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# Clinic for Special Children

Fighting Genetic Illnesses with Cutting-Edge Research and Compassion

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## Posts

- [2026 Translational Medicine Conference in Lancaster](https://clinicforspecialchildren.org/register-today-2026-translational-medicine-conference-in-lancaster/) - 2026 Plain Community Health Consortium Conference July 20 - 21, 2026 Holiday Inn/Imperial Event Center Lancaster, PA ___________________________________________________ Registration is now closed. View the agenda here To view event details, please visit the PCHC website HERE. The Clinic for Special Children is hosting the 12th Annual Plain Community Health Consortium conference at the Holiday
- [Summer 2026 Newsletter | All About CAH!](https://clinicforspecialchildren.org/summer-2026-newsletter-all-about-cah/) - Our Summer 2026 newsletter shares the inspiring story of the Blank family and their journey navigating Congenital Adrenal Hyperplasia (CAH), along with insights from our Medical Director about this rare genetic condition. You'll also learn about two new specialty services coming to the Clinic, meet new members of our team, catch up on recent milestones,
- [Over $60,000 raised during our 2026 5k, family walk, & kids color fun run!](https://clinicforspecialchildren.org/over-60000-raised-during-our-2026-5k-family-walk-kids-color-fun-run/) - Over 710 participants joined us on Saturday, May 16th, at the Leola Produce Auction for our 8th annual Clinic for Special Children 5k! This year, we added a new event, our 1.5-mile family walk, which was a hit and helped us break our previous attendance record by the hundreds! Thanks to all of the participants,
- [Registration is open! | 2026 Clinic for Special Children 5k](https://clinicforspecialchildren.org/registration-is-open-2026-clinic-for-special-children-5k/) - Join us on May 16, 2026! Runners, joggers, and walkers – join us for the Clinic for Special Children 5k, a chip-timed, 3.1-mile race along rolling scenic roads through Lancaster County farmland. The course winds past Amish schoolhouses and acres of picturesque farms. Strollers & mobility devices are welcome! The race is presented by Nemours Children's
- [Spring 2026 Newsletter | Taking Our Care on the Road](https://clinicforspecialchildren.org/spring-2026-newsletter-taking-our-care-on-the-road/) - Our first newsletter of the year highlights how our outreach clinics are expanding across different regions to bring expert care directly to families where they live. We also share our 2026-2029 Strategic Plan, a roadmap that will guide the Clinic’s mission through expanded service offerings, groundbreaking research, and the sharing of our specialized knowledge. Plus,
- [Reaching New Heights: Our 2025 Annual Report is Here!](https://clinicforspecialchildren.org/reaching-new-heights-our-2025-annual-report-is-here/) - Our 2025 Annual Report, themed Reaching New Heights, highlights a year of meaningful progress and bold planning for the future. Guided by a comprehensive strategic planning process, the Clinic established an ambitious course through 2029 centered on three core pillars: Expanding Accessible Care, Engaging in Impactful Research, and Sharing Knowledge. This report showcases the impactful
- [Our 2026 Event Calendar](https://clinicforspecialchildren.org/our-2026-event-calendar/) - From hitting the pavement for our 5K race to bidding at our benefit auctions or sharing a meal at a community dinner, there are so many ways to support the Clinic for Special Children this year! Every Moment Matters Whether you’re joining us in person or participating in an online fundraiser, every event directly supports
- [How the Comeaux family found hope at the Clinic](https://clinicforspecialchildren.org/give-today-to-help-families-like-the-comeauxs-find-hope/) - We invite you to consider donating to the Clinic for Special Children and support families, like the Comeaux family. When the Comeaux family reached out to the Clinic for Special Children for a second opinion for their son, Kado’s rare genetic disorder, they were overwhelmed by fear and uncertainty. That changed the very same evening
- [CSC publishes new research on metformin therapy for weight loss in adults with maple syrup urine disease](https://clinicforspecialchildren.org/csc-publishes-new-research-on-metformin-therapy-for-weight-loss-in-adults-with-maple-syrup-urine-disease/) - A new study, led by clinicians and researchers at the Clinic, has been published in this month's issue of Molecular Genetics and Metabolism. Managing weight with Maple Syrup Urine Disease (MSUD) is a delicate balancing act, as traditional dieting can often trigger a dangerous metabolic crisis. This landmark 52-week study followed nine adults with MSUD
- [Our 2026-2029 Strategic Plan](https://clinicforspecialchildren.org/our-2026-2029-strategic-plan/) - The Vision for 2026 & Beyond Throughout 2025, we worked diligently on a comprehensive strategic planning process to set an ambitious course for the Clinic through 2029. Our vision is built on three essential pillars: Expanding Accessible Care Engaging in Impactful Research Sharing Knowledge We are excited to share the details of this plan and
- [Over $40,000 raised for the Clinic during the 2025 ExtraGive](https://clinicforspecialchildren.org/over-40000-raised-for-the-clinic-during-the-2025-extragive/) - On Friday, November 21, 2025, 140 Extraordinary people donated to the Clinic for Special Children and raised over $40,000 for children and adults with rare genetic disorders in just 24 hours during the Extraordinary Give! We couldn’t do our work without the support of many people, like those who gave during this annual online giving marathon. This year,
- [Collaborative research study brings clarity & hope for families affected by rare inherited neuropathy](https://clinicforspecialchildren.org/collaborative-research-study-brings-clarity-hope-for-families-with-rare-inherited-neuropathy/) - A recent collaborative research study, in partnership with the Mayo Clinic and the University of Rochester, resulted in a breakthrough for families affected by a rare inherited neuropathy. The study will be published in the December 9, 2025, issue of the journal Neurology®. In partnership with the Mayo Clinic and the University of Rochester, we
- [Give the gift of hope this holiday season](https://clinicforspecialchildren.org/give-the-gift-of-hope-this-holiday-season/) - This holiday season, consider donating to the Clinic for Special Children and support families, like the Troyers, who are facing rare genetic disorders and complex medical needs. Their family moved across the country in search of specialized care for their child, Isaiah, who was living with a rare genetic disease, and to be closer to
- [Countdown to the ExtraGive | Support the Clinic on Fri., Nov. 21st!](https://clinicforspecialchildren.org/countdown-to-the-extragive-support-the-clinic-on-fri-nov-21st/) - The Extra Give - Lancaster County’s largest day of online giving - is on Friday, November 21st! Help the Clinic raise $75,000 in 24 hours for our mission. You don’t need to be located in Lancaster County - we have donors from all over the country who support us through the ExtraGive. Every dollar you
- [2025 Fall newsletter | Hearing Health at the Clinic](https://clinicforspecialchildren.org/2025-fall-newsletter-hearing-health-at-the-clinic/) - In this fall issue of our Clinic newsletter, we share a young woman’s story of rediscovering sound, explore the various causes of hearing loss, and highlight a collaborative project with the Pennsylvania Department of Health and Nemours Children’s Health to close the gap in newborn hearing screening for Plain families. CLICK HERE to read the
- [2025 Fall STABLE Program Training Class | Registration Open!](https://clinicforspecialchildren.org/stable/) - We are pleased to offer another S.T.A.B.L.E. training class, a neonatal education program that focuses on post-resuscitation/ pre-transport stabilization care of sick infants. S.T.A.B.L.E. is based on a mnemonic to optimize learning and retention. It stands for the six assessment and care modules in the program: Sugar, Temperature, Airway, Blood pressure, Lab work, and Emotional support. This training class will be
- [CHOP & CSC collaborative study featured in the Philadelphia Inquirer](https://clinicforspecialchildren.org/chop-csc-collaborative-study-featured-in-the-philadelphia-inquirer/) - Our collaboration with the Children’s Hospital of Philadelphia is featured in today’s Philadelphia Inquirer! The article highlights how our teams worked together to study complement factor I deficiency—an ultra-rare genetic disorder found at much higher rates in the Amish community—and its connection to life-threatening conditions such as brain swelling. Read the article Read the published
- [CSC & CHOP clinicians publish new research on ultra rare form of neuroinflammatory disease](https://clinicforspecialchildren.org/csc-chop-clinicians-publish-new-research-on-ultra-rare-form-of-neuroinflammatory-disease/) - Researchers from Children’s Hospital of Philadelphia (CHOP) and the Clinic for Special Children found that complement factor I (CFI) deficiency, an ultra-rare genetic disorder that can cause debilitating neuroinflammation, is more than 4500 times more likely to be found in individuals of Old Order Amish ancestry than the rest of the global population. These findings could
- [2025 Summer newsletter | All about genetic counseling](https://clinicforspecialchildren.org/all-about-genetic-counseling-2025-summer-newsletter/) - At the heart of our work lies a cornerstone service—genetic counseling. But what exactly is genetic counseling, and why is it important? In this summer issue of our Clinic newsletter, we explore how genetic counseling empowers families with information, support, and clarity when it comes to inherited health conditions. CLICK HERE to read the latest issue now!
- [Over $70,000 raised during our 2025 5k!](https://clinicforspecialchildren.org/over-70000-raised-during-our-2025-5k/) - Over 445 participants joined us on Saturday, May 17th, at the Leola Produce Auction for our 7th annual Clinic for Special Children 5k! It was a record-breaking year on all accounts - 80 more participants and over $20,000 more raised than our previous records! We also had a record-breaking kids' color fun run with 80
- [Register for our 2025 Midwives Conference!](https://clinicforspecialchildren.org/register-for-our-2025-midwives-conference/) - Birth & Beyond: Tools & Advances in Maternal & Newborn Care Conference Clinic for Special Children’s 2025 Midwife Conference Wednesday, May 7, 2025 | 9:00 a.m. to 4:00 p.m. at the Clinic for Special Children in Gordonville, PA Join us for a full-day, CME-eligible conference, which will bring together midwives who work with families at
- [Register today for the 2025 Clinic for Special Children 5k!](https://clinicforspecialchildren.org/registration-is-open-for-the-2025-clinic-for-special-children-5k/) - Join us on May 17, 2025! Runners, joggers, and walkers are invited to participate in the Clinic for Special Children 5k presented by Nemours Children’s Health – a 3.1-mile course along rolling scenic roads, winding through Lancaster County farmland, venturing past Amish schoolhouses and acres of picturesque farms. Strollers and wheelchairs are welcome! The chip-timed 5k race
- [Clinic researchers and collaborators tie genetic variant to risk of major depressive disorder](https://clinicforspecialchildren.org/clinic-researchers-and-collaborators-tie-genetic-variant-to-risk-of-major-depressive-disorder/) - In a published paper released today in Proceedings of the National Academy of Sciences, Clinic for Special Children researchers and collaborators from Columbia University and Regeneron Genetics Center discover a rare mutation in a gene that increases the risk of major depressive disorder. "Major depressive disorder is a leading cause of disability worldwide and can affect
- [Insight to Diagnosis: Enjoy our Spring Newsletter!](https://clinicforspecialchildren.org/insight-to-diagnosis-enjoy-our-spring-newsletter/) - Our first newsletter of 2025 is here! This spring edition of the Clinic’s newsletter focuses on intellectual disabilities. We share the story of a patient who has a genetic condition that causes developmental delays, explain what intellectual disability is, and provide a preview of our benefit auction season and Clinic events for this year. CLICK
- [Downloadable 2025 Events Calendar](https://clinicforspecialchildren.org/downloadable-2025-events-calendar/) - From auctions to online fundraisers to a community dinner, we hope that you can join us for a 2025 Clinic for Special Children event! All events benefit the Clinic’s mission of providing accessible, affordable, and compassionate care to children and adults with rare genetic disorders. Click HERE or on the image below to download our 2025
- [Gene Therapy for Classic Maple Syrup Urine Disease Shows Promise in Mice & Cow Models](https://clinicforspecialchildren.org/gene-therapy-for-classic-maple-syrup-urine-disease-shows-promise-in-mice-cow-models/) - In a published paper released today in Science Translational Medicine, Clinic for Special Children researchers and scientists from the University of Massachusetts Chan Medical School developed a dual-function gene replacement therapy that demonstrated restored metabolic activity in mice and a cow model of the two common genetic forms of maple syrup urine disease. Read
- [Putting Down New Roots | Our 2024 Annual Report](https://clinicforspecialchildren.org/putting-down-new-roots-our-2024-annual-report/) - Our 2024 Annual Report is here! This year's report is all about our year of moving to our new facility and how we've 'replanted' in our new space in Gordonville, PA. Learn more about our year of change, what's on the horizon for our work, and how the building enables us to provide even better
- [Rare Disease Day 2025](https://clinicforspecialchildren.org/rare-disease-day-2025/) - Our staff at the Clinic for Special Children shares why they support Rare Disease Day and why others should advocate for families facing rare genetic disorders. Join us in recognizing Rare Disease Day on February 28th!
- [Tours of the Clinic for Special Children](https://clinicforspecialchildren.org/tours-of-the-clinic-for-special-children/) - Interested in touring the Clinic for Special Children and seeing our behind-the-scenes work? Join us for a tour! We will be offering these tours throughout the year. Space is limited for each tour time, so sign up today! You are welcome to bring guests with you and include them in your party when you sign
- [A New Year's Letter from our Executive Director](https://clinicforspecialchildren.org/a-new-years-letter-from-our-executive-director-2/) - Friends, Looking back on 2024, it was a year of great change for the Clinic as we 'put down new roots' in our new neighborhood of Gordonville, PA. Amid the changes, our dedicated staff continued the Clinic's daily work without disruption or delay. As we look ahead, we continue to see increased, patient-driven demand in
- [Facing a Rare Immune Disease | The Martin Family's Story](https://clinicforspecialchildren.org/8951-2/) - The Martin family shared their inspirational story of facing a rare genetic immune disease and the hope they found through the Clinic for Special Children for our annual giving appeal. You can read their story below, a letter from our Executive Director, and give to the Clinic so families like the Martins can continue receiving affordable,
- [Over $51,000 raised for the Clinic! | 2024 ExtraGive](https://clinicforspecialchildren.org/over-xxxxx-raised-for-the-clinic-2024-extragive/) - On Friday, November 22, 2024, 196 Extraordinary people donated to the Clinic for Special Children and raised over $51,000 for children and adults with rare genetic disorders in just 24 hours during the Extraordinary Give! We couldn’t do our work without the support of many people, like those who gave during this annual online giving marathon. This
- [Enjoy our Fall 2024 Newsletter!](https://clinicforspecialchildren.org/enjoy-our-fall-2024-newsletter/) - Our last newsletter of the year is here! This fall 2024 edition of the Clinic’s newsletter focuses focuses on our work in partnership with local neonatal intensive care units (NICUs). Learn more about how the Clinic works with local NICU providers to ensure the best start for babies with rare disorders and the outcomes we've
- [2024 ExtraGive | Support the Clinic on Friday, November 22nd!](https://clinicforspecialchildren.org/2024-extragive-support-the-clinic-on-friday-november-22nd/) - Help us make an EXTRAORDINARY difference! It’s almost that time of year again! The Extraordinary Give - Lancaster County’s largest day of online giving - is on Friday, November 22nd! Help the Clinic raise $75,000 in 24 hours for our mission. You don’t need to be located in Lancaster County - we have donors from
- [CSC & Nemours researchers work together to provide high-tech care to Amish families facing Ellis-van Creveld syndrome](https://clinicforspecialchildren.org/8820-2/) - A recent research article details our collaborative relationship with Nemours Children's Health and how we work together to get care to Amish patients who need it most - no matter the challenges. Read the letter and learn about how we provide high-tech tools to Amish families and help achieve better outcomes for children facing Ellis-van
- [Enjoy our Summer 2024 Newsletter!](https://clinicforspecialchildren.org/enjoy-our-summer-2024-newsletter/) - Our Summer 2024 newsletter is hot off the press! This edition of the Clinic's newsletter focuses on movement disorders - what they are, how we work with The Seating and Mobility Clinic at Nemours Children's Health System, and share a family's story walking a journey with pontocerebellar hypoplasia. CLICK HERE to read the latest issue now!
- [CSC Researchers Evaluate the Benefit of Dual Therapy for Children At Risk for Spinal Muscular Atrophy](https://clinicforspecialchildren.org/csc-researchers-evaluate-the-benefit-of-dual-therapy-for-children-at-risk-for-spinal-muscular-atrophy/) - LANCASTER COUNTY, PA – In a first-of-its-kind study, researchers compared the efficacy of preventative therapy for spinal muscular atrophy (SMA) between two well-matched study groups, using either gene therapy (onasemnogene abeparvovec) alone or in combination with risdiplam (oral medication) or nusinersen (intrathecal injection) administered before apparent signs of disease emerged. The study included presymptomatic infants
- [We're Moving on April 1, 2024!](https://clinicforspecialchildren.org/were-moving-april-1-2024/) - We're excited to share that the Clinic for Special Children is moving to our new, expanded facility in Gordonville, PA on Monday, April 1, 2024! We're grateful to the many donors, businesses, patient families, and community members who provided essential support to build the new facility - a place of comfort, friendship, and hope for
- [Downloadable 2024 CSC Events Calendar](https://clinicforspecialchildren.org/downloadable-2024-csc-events-calendar/) - This year is packed with fundraising events to support the Clinic! From auctions to a community dinner, there’s plenty of fun to be had at our upcoming 2024 CSC events! All events benefit the Clinic’s mission of providing accessible, affordable, and compassionate care to children and adults with rare genetic disorders. Click HERE or on the
- [Enjoy our Spring 2024 newsletter!](https://clinicforspecialchildren.org/enjoy-our-spring-2024-newsletter/) - The special edition of our Spring 2024 newsletter is here! Our big move to our new, expanded facility in Gordonville is the focus of this special edition. Learn about how our new building will allow us to better care for families, read updates on our fundraising for our capital campaign, and view the photos of
- [New Building Project Construction Updates](https://clinicforspecialchildren.org/new-building-project-construction-updates/) - Welcome to the Clinic for Special Children's new building project updates page! We will be posting construction updates frequently and feature drone site videos and time-lapse videos. For more information on the new building project or to donate, please visit www.clinicforspecialchildren.org/campaign. February 29, 2024 Just one month until our move on April 1st! Each floor
- [2023 Annual Report | Read it here!](https://clinicforspecialchildren.org/2023-annual-report-read-it-here/) - The Clinic’s 2023 Annual Report is here! Learn about how we're working every day to create brighter futures for children and adults facing rare genetic disorders. From gene therapy trials to our new facility capital campaign, our priority is to serve our mission for generations to come. You can read the report in full HERE. Thank
- [Keturah Beiler, BSN, RN, CHPPN co-authors chapter about bereavement rituals across U.S. cultural groups](https://clinicforspecialchildren.org/keturah-beiler-bsn-rn-chppn-co-authors-chapter-in-new-textbook-about-bereavement-rituals-across-u-s-cultural-groups/) - Nurse & Cherished Lives Program Manager at the Clinic, Keturah Beiler, BSN, RN, CHPPN, co-authored a chapter in a recently published textbook, Perinatal Bereavement Rituals and Practices Among U.S. Cultural Groups. In chapter three, Keturah shares how families in the Amish and Mennonite communities approach bereavement rituals and how she coordinates our Cherished Lives program
- [Hope Realized | Kirklyn's story](https://clinicforspecialchildren.org/feels-like-nothing-short-of-a-miracle-kirklyns-story/) - The Sensenig family shared their story of never losing hope and the lifesaving treatment their son, Kirklyn, received at the Clinic for Special Children for our Annual Giving Appeal. You can read their story below, a letter from our board chair, and give to the Clinic to help support those with rare genetic disorders, like
- [Over $70,000 raised during 2023 ExtraGive!](https://clinicforspecialchildren.org/over-70000-raised-during-2023-extragive/) - On Friday, November 17, 2023, 293 Extraordinary people donated to the Clinic for Special Children and raised over $70,000 for children and adults with rare genetic disorders in just 24 hours during the Extraordinary Give! We couldn't do our work without the support of many people, like those who gave during this annual online giving marathon. This
- [2023 ExtraGive | Support the Clinic on Friday, November 17th!](https://clinicforspecialchildren.org/2023-extragive-support-the-clinic-on-friday-november-17th/) - You can help make an EXTRAORDINARY difference! It’s almost that time of year again! The Extraordinary Give - Lancaster County’s largest day of online giving - is on Friday, November 17th! Help the Clinic raise $75,000 in 24 hours for our mission. You don’t need to be located in Lancaster County - we have donors
- [Enjoy our Fall 2023 newsletter!](https://clinicforspecialchildren.org/enjoy-our-fall-2023-newsletter/) - Our Fall 2023 newsletter is out now! This edition of the Clinic's newsletter focuses on our Plain Insight Panel™ (PIP) test and how it's used to inform and influence patient care. Read a family's story about how the PIP helped them prepare for their baby, learn about how the PIP has been used since its
- [2023 CSC 5k | Over $47,000 raised!](https://clinicforspecialchildren.org/2023-csc-5k-over-47000-raised/) - Thank you to over 370 runners, joggers, and walkers who joined us on Saturday, September 16, 2023, for our 6th annual Clinic for Special Children 5k. Over $47,000 was raised in support of the Clinic's mission! We couldn't do this work without the support of many like the event sponsors, volunteers, participants, staff, and more!
- [International Study of TNNT1 Myopathy Establishes Operational Framework for Future Clinical Trials](https://clinicforspecialchildren.org/international-history-study-of-tnnt1-myopathy-establishes-operational-framework-for-future-clinical-trials/) - STRASBURG, PA – A new study summarizes WiTNNess – a hybrid prospective/cross-sectional observational study of TNNT1 myopathy, a rare and lethal neuromuscular disease that causes progressive muscle weakness and stiffness, while cognitive and social development remain normal. The study aimed to identify clinically meaningful endpoints for future therapeutic trials following recent guidelines on natural history
- [Register today! | Clinic for Special Children 5k](https://clinicforspecialchildren.org/register-today-clinic-for-special-children-5k/) - REGISTER TODAY! Join us for the 6th annual Clinic for Special Children 5k on Saturday, September 16th from 9:00 a.m. – 11:00 a.m presented by Nemours Children’s Health. Runners, joggers, and walkers are invited to participate in the Clinic for Special Children 5k – a 3.1-mile course along scenic country roads, winding through Lancaster County farmland,
- [Enjoy our Summer 2023 Newsletter!](https://clinicforspecialchildren.org/enjoy-our-summer-2023-newsletter/) - Our Summer 2023 newsletter is out now! This edition of the Clinic's newsletter focuses on rare genetic disorders that cause immune deficiencies in the community. Read a family's story, learn about our new Be a Child's Cure: Plain Marrow Donor Registry, read about how collaborating research teams are searching for cures, and see updates on
- [Enjoy our 2023 Spring Newsletter!](https://clinicforspecialchildren.org/enjoy-our-2023-spring-newsletter/) - The special edition of our Spring 2023 newsletter is here! Our Keeping the Promise: Building Hope capital campaign to raise funds for our new building project is the focus of this special edition. Read the issue to learn more about the design of the new building, what we're looking forward to the in future, and
- [Announcing the Clinic's New Building Project!](https://clinicforspecialchildren.org/announcing-the-clinics-new-building-project/) - We have exciting news to share about a transformational project! We have officially launched the Keeping the Promise: Building Hope capital campaign to build a new facility for the Clinic. For more than 34 years, the Clinic for Special Children has provided services at our current facility in Strasburg, PA. Today, the Clinic treats more
- [2023 Clinic Informational Brochure](https://clinicforspecialchildren.org/2023-clinic-informational-brochure/) - Our informational brochure for 2023 is here! Learn more about our services, key stats, what makes us unique, and how we offer affordable and accessible care. To view the updated brochure, visit HERE.
- [Downloadable 2023 CSC Events Calendar](https://clinicforspecialchildren.org/downloadable-2023-csc-events-calendar/) - This year is packed with fundraising events to support the Clinic! From auctions to a 5k race, there’s plenty of fun to be had at our upcoming 2023 CSC events! All events benefit the Clinic’s mission of providing accessible, affordable, and compassionate care to children and adults with rare genetic disorders. Click HERE or on the
- [2022 Annual Report Available](https://clinicforspecialchildren.org/2022-annual-report-available/) - The Clinic's 2022 Annual Report is now available! This year's report features our work with seizure disorders, an interview with our community liaison, our financial performance in 2022, how the benefit auctions support our work, and a new building campaign for the Clinic. You can read the report in full HERE. Thank you to everyone
- [CSC receives grant from Jeffrey Modell Foundation as part of RAG1 international research team](https://clinicforspecialchildren.org/csc-receives-grant-from-jeffrey-modell-foundation-as-part-of-rag1-international-research-team/) - In commemoration of Rare Disease Day on February 28th, we are excited to share that our international research team is the recipient of the prestigious global Jeffrey Modell Foundation Translational Research Program Award (Cycle 10). The study entitled, “From clinical and molecular characterization to CRISPR genome-editing therapy of RAG1 combined immunodeficiency”, is a close collaboration between
- [A New Year's Letter from our Executive Director](https://clinicforspecialchildren.org/a-new-years-letter-from-our-executive-director/) - Friends, The Clinic for Special Children serves as a beacon of hope for the hundreds of families that walk through our doors each year. From providing answers to complicated medical questions to conducting groundbreaking research on rare genetic disorders, our interdisciplinary team works every day in service of the Clinic's mission. It's only because of
- [Watch Dr. Vincent Carson's TEDx Lancaster Talk "The Power of a Genetic Diagnosis"](https://clinicforspecialchildren.org/dr-vincent-carson-tedx-lancaster-talk-published/) - In 2021, Dr. Vincent Carson delivered a TEDx Lancaster talk about "The Power of a Genetic Diagnosis". You can now view his full talk on YouTube HERE. About Dr. Carson Dr. Vincent Carson, Managing Physician at the Clinic for Special Children, uses examples from his practice to illustrate how genetic testing is changing the landscape
- [Over $40,000 raised during the 2022 Clinic for Special Children 5k!](https://clinicforspecialchildren.org/over-40000-raised-during-the-2022-clinic-for-special-children-5k/) - Thank you for raising over $40,000 for the Clinic for Special Children during the 2022 5k! It was a great fall morning with over 292 registrants, a bake sale, kid’s color fun run, and more! We'd also like to thank our generous sponsors for their support! 2022 Clinic for Special Children 5k Results &
- [Register today for the 2022 Clinic for Special Children 5k!](https://clinicforspecialchildren.org/register-today-for-the-2022-clinic-for-special-children-5k/) - REGISTER TODAY! Join us for the 5th annual Clinic for Special Children 5k on Saturday, September 17th from 9:00 a.m. – 11:00 a.m presented by Nemours Children's Health. Runners, joggers, and walkers are invited to participate in the Clinic for Special Children 5k – a 3.1-mile course along scenic country roads, winding through Lancaster County
- [Enjoy our Fall 2022 Newsletter!](https://clinicforspecialchildren.org/enjoy-our-fall-2022-newsletter/) - Our Fall 2022 newsletter is here! Our last newsletter issue for 2022 focuses on rare genetic disorders that cause dwarfism in the community. Read a patient's story, learn about living with Ellis-van Creveld syndrome, and how patients are helped through orthopaedic specialists that visit the Clinic. CLICK HERE to read the latest issue now!
- [2022 ExtraGive | Support the Clinic on Friday, November 18th!](https://clinicforspecialchildren.org/2022-extragive-support-the-clinic-on-friday-november-18th/) - You can help make an EXTRAORDINARY difference! We’re counting down the days until the Extraordinary Give on Friday, November 18th – Lancaster County’s largest day of online giving! Last year Clinic for Special Children supporters helped raise over $110,000! Help us unlock matching dollars and make your gift go further this year by donating to the Clinic during the ExtraGive.
- [Brothers bonded by CODAS syndrome | The King Family's Story](https://clinicforspecialchildren.org/brothers-bonded-by-codas-syndrome-the-king-familys-story/) - The King family shared their story about how their sons, Jevon and Josiah, are cared for with compassion at the Clinic for Special Children for our Annual Giving Appeal. You can read their story below, a letter from our board chairman, and give to the Clinic to help support those with rare genetic disorders, like
- [Dr. Kevin Strauss lead author on recently published papers demonstrating the safety & efficacy of SMA gene therapy](https://clinicforspecialchildren.org/dr-kevin-strauss-lead-author-on-newly-published-papers-demonstrating-the-safety-efficacy-of-sma-gene-therapy/) - Recently published companion papers detail the safety and efficacy of onasemnogene abeparvovec, a gene replacement therapy for spinal muscular atrophy (SMA), for presymptomatic infants with two or three copies of SMN2 at risk for developing SMA type 1 or 2, respectively. “Two decades following completion of the human genome project, onasemnogene abeparvovec delivers on the
- [Enjoy our Summer 2022 Newsletter!](https://clinicforspecialchildren.org/enjoy-our-summer-2022-newsletter/) - Our summer newsletter is hot off the press! This summer's newsletter focuses on seizure disorders that we commonly see at the Clinic. Read about a family's journey with DEPDC5, common seizure disorders we see at the Clinic, and what seizures are and appropriate first aid practices. CLICK HERE to read the latest issue now!
- [Dr. Kevin Strauss delivers talk at 25th ASGCT Meeting on the safety & efficacy of novel MSUD gene therapy in murine and bovine models](https://clinicforspecialchildren.org/dr-kevin-strauss-delivers-talk-at-25th-asgct-meeting-on-the-safety-efficacy-of-novel-msud-gene-therapy/) - Dr. Kevin Strauss delivered a podium presentation on Tuesday, May 17th at the annual ASGCT meeting in Washington D.C. The presentation detailed the safety and efficacy results of a dual-function gene replacement vector therapy in murine and bovine models of classic Maple Syrup Urine Disease (MSUD). To read a full press release on the talk
- [Downloadable 2022 CSC Events Calendar](https://clinicforspecialchildren.org/downloadable-2022-csc-events-calendar/) - From auctions to a 5k race, there's plenty of fun to be had at our upcoming 2022 CSC events! All events benefit the Clinic's mission of providing accessible, affordable, and compassionate care to children and adults with rare genetic disorders. Click HERE or on the image below to download our 2022 events calendar!
- [Enjoy our Spring 2022 Newsletter!](https://clinicforspecialchildren.org/enjoy-our-spring-2022-newsletter/) - Our first newsletter of the year is here! The Spring 2022 newsletter focuses on our palliative care program, Cherished Lives. Learn about palliative care, read an interview with our Cherished Lives Program Manager, and hear a story of the Clinic caring for a neighbor with a terminal rare genetic disease. This newsletter also showcases our
- [The Effects of NPRL3 Loss Described in New Study in Old Order Mennonite Population](https://clinicforspecialchildren.org/the-effects-of-nprl3-loss-described-in-new-study-in-old-order-mennonite-population/) - STRASBURG, PA – A new study published in this month’s issue of Brain details the effects of the loss of gene products from NPRL3 on seizure threshold, cortical lamination, mTOR localization, and neuron structure. This study reports the largest and genealogically oldest known NPRL3 patient pedigree. The 12-generation, Old Order Mennonite pedigree dates back to
- [2022 Press Kit Now Available](https://clinicforspecialchildren.org/2022-press-kit-now-available/) - The newest version of our press kit is now available here! Meet our 2022 ambassador families and learn more about how we practice translational medicine and research here at the Clinic. For media inquiries, please contact press@clinicforspecialchildren.org or call us at 717-687-9407.
- [Clinic featured on RareShare podcast episode!](https://clinicforspecialchildren.org/clinic-featured-on-rareshare-podcast-episode/) - RareShare Podcast Episode | February 2022 Dr. Kevin Strauss, Medical Director, Dr. Erik Puffenberger, Laboratory Director, and Karlla Brigatti, MS, CGC, Research Operations Director, shared about the Clinic's work within the Plain community and beyond in a podcast episode with RareShare, part of the Rare Genomics Institute. The hour-long podcast episode recaps the Clinic's
- [Meet our 2022 Ambassadors!](https://clinicforspecialchildren.org/meet-our-2022-ambassadors/) - We’re excited to introduce our 2022 Clinic for Special Children ambassadors! Our ambassadors and their families will tell their stories and represent the Clinic in a variety of ways this year. We’re thankful to each family for helping us spread the word about the work of the Clinic! Jevon & Josiah King| 2 years
- [New Clinical Educational Series | Caring for the Plain Community](https://clinicforspecialchildren.org/new-plain-community-educational-series/) - A new educational series tailored for physicians serving the Plain community is here! This bimonthly, virtual learning series will occur every other month on the first Friday from noon - 1 p.m. The talk series is organized by a collaboration of WellSpan Health, the Clinic for Special Children, and Penn Medicine Lancaster General Health. The
- [Meaningful Momentum | A New Year Letter from our Executive Director](https://clinicforspecialchildren.org/meaningful-momentum-a-new-year-at-csc/) - Friends, Each year brings the fresh promise of new opportunities and possibilities. As we begin our 33rd year in operation, we are energized by your overwhelming support, especially over the past several years. We continue to make meaningful momentum in all areas of the clinic and we couldn’t do this work without you. Our clinical, laboratory, and research
- [2022 Clinic for Special Children Informational Brochure](https://clinicforspecialchildren.org/2022-clinic-for-special-children-informational-brochure/) - New year, new brochure! We've updated and expanded our Clinic for Special Children informational brochure for 2022. Learn more about our services, key stats, what makes us unique, and how we offer affordable and accessible care. To view the updated brochure, visit HERE.
- [Over $106,000 raised for the Clinic during the 2021 Extraordinary Give!](https://clinicforspecialchildren.org/over-xxxxx-raised-for-the-clinic-during-the-2021-extraordinary-give/) - On Friday, November 19, 2021 over 250 Extraordinary people donated to the Clinic for Special Children and raised over $106,000 for children and adults with rare genetic disorders! Your support this allows our team to provide affordable, compassionate care to the families that we serve. The Extraordinary Give is Lancaster County’s largest day of online
- [A Birthday of Hope | Oakley Zimmerman's Story](https://clinicforspecialchildren.org/a-birthday-of-hope-oakley-zimmermans-story/) - The Zimmerman family shared their story about how they were met with compassion and action at the Clinic for Special Children for our Annual Giving Appeal. You can read their story below, a letter from our board chairman, and give to the Clinic to help support those with rare genetic disorders, like Oakley. The Zimmerman
- [2021 Extraordinary Give | Support the Clinic on Friday, November 19th!](https://clinicforspecialchildren.org/2021-extraordinary-give-support-the-clinic-on-friday-november-19th/) - You can help make an EXTRAORDINARY difference! We’re counting down the days until the Extraordinary Give on Friday, November 19th – Lancaster County’s largest day of online giving! Last year Clinic for Special Children supporters helped raise over $55,000! We will have $25,000 in matching dollars this year thanks to generous sponsors! Help us unlock these matching dollars and make
- [Dr. Erik G. Puffenberger writes article detailing history of genetic investigation and discovery at the Clinic](https://clinicforspecialchildren.org/dr-puffenberger-writes-article-detailing-history-of-genetic-investigation-and-discovery-at-the-clinic/) - Dr. Erik G. Puffenberger, Laboratory Director at the Clinic, recently penned an article, "Mendelian disease research in the Plain populations of Lancaster County, Pennsylvania", for the American Journal of Medical Genetics. Dr. Puffenberger joined the Clinic in 1998 and has witnessed first-hand the evolution of research and translational medicine at the Clinic for Special Children.
- [Safety and efficacy data published for novel nusinersen drug delivery method for spinal muscular atrophy patients](https://clinicforspecialchildren.org/safety-and-efficacy-data-published-for-novel-nusinersen-drug-delivery-method-for-spinal-muscular-atrophy-patients/) - STRASBURG, PA – A recently published paper details the safety and efficacy of nusinersen administration via a subcutaneous intrathecal catheter system (SIC) for SMA patients with advanced disease. SMA is a devastating genetic disease that leads to progressive degeneration of motor neurons that control movement, swallowing, and breathing. The novel SIC system is comprised of
- [Enjoy our Fall 2021 Newsletter!](https://clinicforspecialchildren.org/enjoy-our-fall-2021-newsletter/) - The journey to a rare genetic diagnosis can be a long odyssey for many families. In our latest edition of the Clinic for Special Children newsletter, read a story of a family living with an ultra rare disorder, learn about our genetic testing pipeline at the Clinic, and see how we've worked with collaborators to
- [Dr. Kevin A. Strauss author on largest published safety study for Spinal Muscular Atrophy (SMA) gene therapy](https://clinicforspecialchildren.org/dr-kevin-a-strauss-author-on-largest-published-safety-study-for-spinal-muscular-atrophy-sma-gene-therapy/) - Dr. Kevin A. Strauss, Medical Director at the Clinic for Special Children, was an author on a recently published research paper, Clinical Trial and Postmarketing Safety of Onasemnogene Abeparvovec Therapy. This paper explores safety for onasemonogene abeparvovec therapy (gene therapy for Spinal Muscular Atrophy). The study is the largest international safety study published thus far.
- [Register for all-new conference | Cultural Considerations for Clinicians: Caring for the Plain Community](https://clinicforspecialchildren.org/register-for-all-new-conference-cultural-considerations-for-clinicians-caring-for-the-plain-community/) - Register today for an all-new virtual conference! Join us virtually on Saturday, October 23rd. This CME-eligible conference connects people of all backgrounds to information and evidence-based education to improve access for the Plain community for improved health care and services. The conference speakers include experts from the Clinic for Special Children, Elizabethtown College, Wellspan, and
- [Over $33,000 raised during the 2021 Clinic for Special Children 5k!](https://clinicforspecialchildren.org/over-33000-raised-during-the-2021-clinic-for-special-children-5k/) - Thank you for raising over $33,000 for the Clinic for Special Children during the 2021 5k! It was a great fall morning with over 290 registrants, a bake sale, kid’s color fun run, and more! 2021 Clinic for Special Children 5k Results & Photos View the 2021 CSC 5k Race RESULTS HERE View photos from
- [Dr. Erik G. Puffenberger & Karlla W. Brigatti, MS, CGC pen chapters for new genomics book](https://clinicforspecialchildren.org/dr-erik-g-puffenberger-karlla-w-brigatti-ms-cgc-pen-chapters-for-new-genomics-book/) - The Clinic for Special Children’s Laboratory Director, Dr. Erik G. Puffenberger, and Research Operations Director, Karlla W. Brigatti, MS, CGC, penned chapters in a recently published book, Genomics of Rare Diseases - Understanding Disease Genetics Using Genomic Approaches. Dr. Puffenberger's chapter covered recessive diseases and founder genetics and Karlla Brigatti's chapter detailed an introduction to
- [Welcome Alexis & Skye!](https://clinicforspecialchildren.org/welcome-alexis-skye/) - We recently welcomed two new staff members to our Clinic team! Learn more about Alexis and Skye below and how they will be working with our team at the Clinic. Alexis McVey, RN, CPN Nurse Alexis joined the Clinic for Special Children in 2021 as a Nurse. In this role, Alexis works within our
- [Register today for the 2021 Clinic for Special Children 5k!](https://clinicforspecialchildren.org/register-today-for-the-2021-clinic-for-special-children-5k/) - REGISTER TODAY! Join us for the 4th annual Clinic for Special Children 5k on Saturday, September 18th from 9:00 a.m. - 11:00 a.m. presented by Nemours Children's Health System! Runners, joggers, and walkers are invited to participate in the Clinic for Special Children 5k - a 3.1-mile course along scenic country roads, winding through Lancaster
- [Dr. Kevin A. Strauss pens chapter in Pediatric Critical Care textbook](https://clinicforspecialchildren.org/dr-kevin-a-strauss-pens-chapter-in-pediatric-critical-care-textbook/) - The Clinic for Special Children's Medical Director, Dr. Kevin A. Strauss, penned a chapter in a recently published textbook, Pediatric Critical Care. Dr. Strauss' chapter covered 'Metabolic Crises' and summarized many of his learnings over his 20 years at the Clinic. The textbook is published by Springer and available for purchase. The editors for the
- [Clinic Receives $25,000 Direct Effect Quality of Life Grant from Christopher & Dana Reeve Foundation](https://clinicforspecialchildren.org/clinic-receives-25000-direct-effect-quality-of-life-grant-from-christopher-dana-reeve-foundation/) - The Clinic for Special Children was recently awarded a $25,000 Direct Effect Quality of Life grant from the Christopher & Dana Reeve Foundation. The grant will be used to purchase accessible medical examination tables. To read the full press release, please visit HERE.
- [ASC Therapeutics Announces Partnership to Co-Develop Novel Gene Therapy for Maple Syrup Urine Disease (MSUD)](https://clinicforspecialchildren.org/asc-therapeutics-announces-partnership-to-co-develop-novel-gene-therapy-for-maple-syrup-urine-disease-msud/) - We are excited to collaborate and work with ASC Therapeutics and the University of Massachusetts Medical School to develop a novel treatment for Maple Syrup Urine Disease (MSUD). Our goal is to "create new hope for patients and their families," as stated by Dr. Kevin A. Strauss, Medical Director at CSC and collaborating clinical expert
- [Enjoy Our Summer 2021 Newsletter!](https://clinicforspecialchildren.org/enjoy-our-summer-2021-newsletter/) - Many of the children seen during the early days of the Clinic are now adults who still require specialized care. Read the Summer 2021 edition of our newsletter to learn about why we offer adult services, meet an adult patient of the Clinic, and hear more about recent Clinic happenings. Read the Summer 2021 Clinic
- [Welcome Emilienne & Amy!](https://clinicforspecialchildren.org/welcome-emi-amy/) - We recently welcomed two new staff members to our Clinic team! Learn more about Emi and Amy below and how they will be working with our team at the Clinic. Emilienne Bolettieri Research Associate Emilienne (Emi) joined the Clinic for Special Children in 2021 as a Research Associate. In this role, she will be
- [Enjoy CSC's Spring 2021 Newsletter!](https://clinicforspecialchildren.org/enjoy-cscs-spring-2021-newsletter/) - The 2021 Spring edition of our newsletter features a central theme of TNNT1 myopathy - a devastating rare genetic disorder. Read about the Stoltzfus' story of finding hope with TNNT1 myopathy, our recent research studies for TNNT1 myopathy, and an interview with our Research Operations Director, Karlla W. Brigatti, MS, CGC. Read the 2021 Spring
- [2021 Benefit Auctions Website](https://clinicforspecialchildren.org/2021-benefit-auctions-website/) - To stay up-to-date on 2021 benefit auctions for the Clinic for Special Children, visit the auctions website at www.ClinicAuctions.org. This website will be updated throughout the benefit auction season this year with any event changes, sale bills, flyers, and more.
- [2021 Press Kit Now Available](https://clinicforspecialchildren.org/2021-press-kit-is-now-available/) - The newest version of our press kit is now available here! Meet our 2021 ambassadors and learn more about how we practice translational medicine and research here at the Clinic. For media inquiries, please contact press@clinicforspecialchildren.org or call us at 717-687-9407.
- [2021 Rare Disease Day | Sunday, February 28th](https://clinicforspecialchildren.org/2021-rare-disease-day-sunday-february-28th/) - 2021 Rare Disease Day Each year our team takes part in Rare Disease Day - an international day of awareness for the over 300 million people worldwide that live with rare diseases. About 1 in 20 people will live with a rare disease at some point in their life. Despite this, there is no cure
- [Meet our 2021 CSC Ambassadors!](https://clinicforspecialchildren.org/meet-our-2021-csc-ambassadors/) - We're excited to introduce our 2021 Clinic for Special Children ambassadors! A new program this year, our ambassadors will tell their stories and represent the Clinic in a variety of ways. We're thankful to each family for helping us spread the word about the work of the Clinic! Michael Fondacaro | 23 years old
- [A New Year of Compassionate Care & Cutting-Edge Research | Message from our Executive Director](https://clinicforspecialchildren.org/a-new-year-of-compassionate-care-cutting-edge-research/) - A New Year of Compassionate Care and Cutting-Edge Research Friends, As we reflect on 2020 and the new year ahead, we feel immense gratitude for your overwhelming support in what was a challenging year for many. You allowed us to continue serving the children and adults who rely on our services, and for that we are grateful.
- [A Story of Resiliency | Linda Rose Blank](https://clinicforspecialchildren.org/a-story-of-resiliency-linda-rose-blank/) - The Blank family graciously shared the story of their daughter, Linda Rose Blank, for our Annual Giving Appeal. You can watch their story below, read a letter from our leadership, and give to the Clinic to help support those with rare genetic disorders, like Linda Rose. How Can You Give? Make a donation online with
- [Over $55,000 raised for the Clinic during the 2020 ExtraGive!](https://clinicforspecialchildren.org/over-55000-raised-for-the-clinic-during-the-2020-extragive/) - On Friday, November 22, 2020 over 280 Extraordinary people made a donation to the Clinic for Special Children and raised over $55,000! Your support this year allows us to continue providing vital care to the families that we serve during this difficult time. The ExtraOrdinary Give is Lancaster County’s largest day of online giving. This
- [2020 Extraordinary Give | Support the Clinic on Friday, November 20th!](https://clinicforspecialchildren.org/2020-extraordinary-give-support-the-clinic-on-friday-november-20th/) - You can help make an EXTRAORDINARY difference! We’re counting down the days until the Extraordinary Give on Friday, November 20th - Lancaster County’s largest day of online giving! Last year Clinic for Special Children supporters helped raise over $77,000! Every dollar you donate on November 20th during the ExtraGive will be stretched by a pool
- [CSC reduces glutaric acidemia type 1 (GA1) brain injury risk by 83% with therapies developed over 30 years of clinical experience](https://clinicforspecialchildren.org/csc-reduces-glutaric-acidemia-type-1-ga1-brain-injury-risk-by-83-with-therapies-developed-over-30-years-of-clinical-experience/) - STRASBURG, PA - A new study summarizes over 30 years of clinical experience in the treatment and management of glutaric acidemia type 1 (GA1), a rare and potentially devastating metabolic disorder caused by variants in the GCDH gene. The study followed the clinical course of 168 individuals with GA1 who were born between 1973 and
- [Enjoy CSC's 2020 Fall Newsletter!](https://clinicforspecialchildren.org/enjoy-cscs-2020-fall-newsletter/) - The 2020 Fall edition of our newsletter details how we quickly diagnosed TJP2 in a young patient, the upcoming Extraordinary Give, a groundbreaking 30-year study on maple syrup urine disease, and our 2020 virtual 5k recap! Read the 2020 Fall CSC newsletter HERE
- [Welcome to Dr. Grace Loudon](https://clinicforspecialchildren.org/csc-welcomes-dr-grace-loudon/) - We are excited to officially welcome Dr. Grace Loudon to the Clinic for Special Children! Dr. Loudon, a family practice physician, will join Dr. Strauss, Dr. Carson, Dr. Poskitt, and nurse practitioner Donna Robinson in providing clinical services at the Clinic. Dr. Loudon's training allows her to see patients of any age making her an
- [CSC researchers contribute to novel discovery of de novo and inherited variants in GBF1](https://clinicforspecialchildren.org/csc-researchers-contribute-to-novel-discovery-of-de-novo-and-inherited-variants-in-gbf1/) - STRASBURG, PA- A new study details the identification of pathogenic variants in the gene GBF1 in four unrelated families with individuals affected by Charcot-Marie-Tooth neuropathy (CMT2) or hereditary motor neuropathies (HMNs). The study includes a long-term patient of the Clinic for Special Children (CSC) and details an example of gene discovery work at CSC. The
- [2020 Virtual 5k | Over $10,000 Raised for the Clinic!](https://clinicforspecialchildren.org/2020-virtual-5k-over-10000-raised-for-the-clinic/) - Thank You, Results, & Photos! Thank you to our 2020 Clinic for Special Children Virtual 5k participants for raising over $10,000! Over 130 registrants ran, jogged, biked, and walked all over the world in support of the Clinic. Your support this year allows us to continue to provide vital services to children and adults with
- [Register today! 2020 Clinic for Special Children Virtual 5k](https://clinicforspecialchildren.org/register-today-2020-clinic-for-special-children-virtual-5k/) - 2020 Clinic for Special Children Virtual 5k Runners, joggers, and walkers are invited to participate in the 2020 Clinic for Special Children Virtual 5k! After careful consideration and due to COVID-19 public health safety guidelines, this year’s race has been moved to a virtual format. Between Saturday, September 19th and Saturday, September 26th, runners, joggers,
- [COVID-19 Updates](https://clinicforspecialchildren.org/covid-19-updates/) - May 28, 2020 To meet the challenge of the COVID-19 pandemic, we are continuously striving to provide accessible and high-quality medical care while also ensuring that the Clinic for Special Children (CSC) is a safe place for our patients and their families. Beginning June 8, 2020, we plan to increase the CSC’s capacity for on-site
- [Dr. Vincent Carson named Clinical Operations Director](https://clinicforspecialchildren.org/dr-vincent-carson-named-clinical-operations-director/) - We are excited to announce that Dr. Vincent Carson has been named the first Clinical Operations Director at the Clinic for Special Children! Dr. Carson joined the Clinic's staff in 2016 as a Pediatric Neurologist. In this new role, Dr. Carson will be responsible for the day-to-day clinical operations, logistics, and services at the Clinic.
- [Enjoy CSC's 2020 Summer newsletter!](https://clinicforspecialchildren.org/enjoy-cscs-2020-summer-newsletter/) - The 2020 Summer edition of our newsletter includes COVID-19 updates from the Clinic, how the Clinic helped the Beiler family solve the mystery of Aldosterone Deficiency, updates on 2020 events, and more! Read the 2020 Summer CSC newsletter HERE
- [2020 Union and Lancaster County Benefit Auctions | Cancelled](https://clinicforspecialchildren.org/2020-union-and-lancaster-county-benefit-auctions-cancelled/) - After careful consideration and due to COVID-19 public health safety guidelines, the 2020 Union County and Lancaster County Benefit Auctions for the Clinic for Special Children have been canceled. The Union County auction was originally scheduled for Saturday, June 6, 2020 and the Lancaster County auction was originally scheduled for Saturday, June 20, 2020. While
- [CSC researchers publish landmark 30-year study on Crigler-Najjar syndrome](https://clinicforspecialchildren.org/csc-researchers-publish-landmark-30-year-study-on-crigler-najjar-syndrome/) - STRASBURG, PA- A new study summarizes more than 30 years of clinical experience and describes the clinical course of 28 individuals homozygous for damaging mutations in the UGT1A1 gene who were born between 1984 and 2015 with Crigler-Najjar syndrome. This morbid and life-threatening disorder is characterized by high levels of toxic bilirubin in the blood
- [Spinal Muscular Atrophy (SMA) Plain community carrier screening program yields impactful results](https://clinicforspecialchildren.org/spinal-muscular-atrophy-sma-plain-community-carrier-screening-program-yields-impactful-results/) - The program identified carriers in the Plain community to deliver innovative treatments presymptomatically to affected newborns STRASBURG, PA- The Clinic for Special Children (CSC) has completed its Spinal Muscular Atrophy (SMA) Prevention Readiness program. The program, launched in 2018, offered free carrier testing with the goal of identifying Plain (Amish or Mennonite) individuals and couples
- [Enjoy CSC's 2020 Spring Newsletter](https://clinicforspecialchildren.org/enjoy-cscs-2020-spring-newsletter/) - The Spring 2020 edition of our newsletter includes the Weaver's journey with Phenylketonuria (PKU), our 2020 Benefit Auction schedule and details, a 2019 year in review, local, and regional foundational support of the Clinic, and more! Read the 2020 Spring CSC newsletter HERE
- [CSC honored with national 'Rare Impact Award' from the National Organization of Rare Disorders (NORD®)](https://clinicforspecialchildren.org/clinic-for-special-children-honored-with-national-rare-impact-award-from-the-national-organization-of-rare-disorders-nord/) - STRASBURG, PA- The Clinic for Special Children (CSC) announced today that its Leadership Team has been named as a 2020 Rare Impact Award honoree by the National Organization for Rare Disorders (NORD). NORD is the leading independent advocacy organization dedicated to improving the lives of patients and families impacted by rare diseases. The annual Rare
- [CSC expands Palliative Care Program with support from WellSpan Health Community Partnership Grant](https://clinicforspecialchildren.org/csc-expands-palliative-care-program-with-support-from-wellspan-health-community-partnership-grant/) - LANCASTER COUNTY, PA- The Clinic for Special Children (CSC) is formalizing and expanding its home-based pediatric palliative and hospice care program, Cherished Lives, for Plain patients (Amish and Mennonite) with the support of a $10,000 Community Partnership Grant from WellSpan Health. The expansion of palliative care services is driven by the needs of Plain patients
- [Groundbreaking 30-year study identifies critical need of disease-modifying therapies for Maple Syrup Urine Disease (MSUD)](https://clinicforspecialchildren.org/groundbreaking-30-year-study-identifies-critical-need-of-disease-modifying-therapies-for-maple-syrup-urine-disease-msud/) - STRASBURG, PA- A new study analyzes 30 years of patient data and details the clinical course of 184 individuals with genetically diverse forms of Maple Syrup Urine Disease (MSUD), which is among the most volatile and dangerous inherited metabolic disorders. Researchers collected data on survival, hospitalization rates, metabolic crises, liver transplantation, and cognitive outcome. This
- [Support children with rare genetic disease, like Ian!](https://clinicforspecialchildren.org/help-support-children-with-rare-disease-like-ian/) - The Lapp family graciously wrote about their journey with their son, Ian's, diagnosis of Glutaric Aciduria type 1 (GA1) and the Clinic for Special Children for our Annual Giving Appeal. You can read their handwritten story below, with an opportunity to give children, like Ian, a bright future. Continue reading Ian’s story HERE How Can
- [Over $73,000 raised during 2019 Extraordinary Give!](https://clinicforspecialchildren.org/over-73000-raised-during-2019-extraordinary-give/) - On Friday, November 22, 2019 over 290 Extraordinary people made a donation to the Clinic for Special Children with over $73,000 raised! With the help of all of our donors, we surpassed our goal of $70,000 for this year’s ExtraGive! In 2018, $62,000 was raised for CSC through the ExtraGive. The ExtraOrdinary Give is Lancaster
- [2019 ExtraGive | Support CSC on November 22nd!](https://clinicforspecialchildren.org/2019-extragive-support-csc/) - Support the Clinic on Friday, November 22nd during the 2019 ExtraGive! The countdown to the 2019 Extraordinary Give is on! Will you help us reach our goal of $70,000 raised for the Clinic in 24 hours? On Friday, November 22, 2019 donations will be accepted from 12 midnight – 11:59 PM as part of Lancaster County’s largest day of online giving.
- [CSC adds three new members to Board of Directors](https://clinicforspecialchildren.org/csc-adds-three-new-members-to-board-of-directors/) - The Clinic for Special Children has added three new members to our Board of Directors. Peter B. Crino, MD, PhD, Stephen Tifft, MD, and Glen Zimmerman will be joining the Board of Directors effective October 2019. Peter B. Crino, MD, PhD is an internationally recognized physician-scientist specializing in developmental brain disorders. Stephen Tifft, MD, is
- [Enjoy CSC's Fall Newsletter!](https://clinicforspecialchildren.org/enjoy-cscs-fall-newsletter-2/) - In the 2019 Fall edition of the CSC newsletter, read about natural history studies, the Rosebrook family's one in a million journey, the WeeUsables team's support of CSC, purchase options for our new books, and more! Read the 2019 Fall CSC Newsletter HERE
- [$40,000 raised and over 350 registrants for the 2019 Clinic for Special Children 5k!](https://clinicforspecialchildren.org/40000-raised-and-over-350-registrants-for-the-2019-clinic-for-special-children-5k/) - THANK YOU to everyone who came out on Saturday, September 21st and made our 2nd annual Clinic for Special Children 5k such a success! Because of you and over 350 registrants, a total of $40,000 was raised to benefit the Clinic! The race results are posted on the Pretzel City Sports website here. To view more
- [Register for 2019 Clinic for Special Children 5k today!](https://clinicforspecialchildren.org/registration-now-open-for-2019-clinic-for-special-children-5k/) - Join us for our 2nd annual Clinic for Special Children 5k on Saturday, September 21st, presented by Nemours Children's Health System! There will be a kid's fun run, bake sale, silent auction, and children's crafts planned for the day! Proceeds support the mission of Clinic for Special Children, a medical home for children and adults
- [Dr. Kevin A. Strauss on team studying disease burden of Crigler-Najjar syndrome](https://clinicforspecialchildren.org/dr-kevin-a-strauss-on-team-studying-disease-burden-of-crigler-najjar-syndrome/) - Dr. Kevin A. Strauss, Medical Director at the Clinic for Special Children, was part of a team of researchers examining the disease burden of Crigler-Najjar syndrome. The study was reported in the September 8th edition of the Journal of Gastroenterology and Hepatology. Click here to read more about this study!
- [2019 Clinic for Special Children 5k to feature Whoopie Pie Medals](https://clinicforspecialchildren.org/2019-clinic-for-special-children-5k-to-feature-whoopie-pie-medals/) - (Strasburg, PA August 2019) The Clinic for Special Children, a non-profit medical home for children and adults with rare genetic diseases, is hosting its 2nd annual 5k race on Saturday September 21st at 9a.m. The race will begin and end at the Clinic (535 Bunker Hill Road, Strasburg, PA, 17579). All proceeds from the event
- [Our new book, 30 Stories for 30 Years, is available for purchase!](https://clinicforspecialchildren.org/our-new-book-30-stories-for-30-years-is-available-for-purchase/) - The Clinic for Special Children published a new book entitled 30 Stories for 30 Years. The 30-year history of the Clinic for Special Children is told by first-hand accounts of those who've walked through our doors. Read handwritten, first-hand stories and experiences of those who've bravely faced rare genetic diseases. Learn more about how rare
- [Enjoy CSC's Summer 2019 Newsletter!](https://clinicforspecialchildren.org/enjoy-cscs-summer-2019-newsletter/) - In the 2019 Summer edition of the CSC newsletter, read about our new palliative care program, Cherished Lives, the Newkirk family's cross-country search for a cure, a new physician joining the CSC team, the Crain Family Foundation's support of CSC, and more! Read the 2019 Summer CSC Newsletter HERE
- [Transplant Changes Boy's Life - Clinic for Special Children Guides Family Toward Light & Joy](https://clinicforspecialchildren.org/transplant-changes-boys-life-clinic-for-special-children-guides-family-toward-light-joy/) - Article by Anne Harnish, Food and Family Features Editor at Lancaster Farming NEWMANSTOWN, Pa. — Fourth-grader Shane Musser likes to be on the move, says his mom, Rose Musser. “He’s very determined,” she said. “He falls down a lot, but keeps trying and trying. He doesn’t give up.” Rose is talking about Shane’s persistent desire
- [Dr. Vincent Carson contributes to SMA News Today article on Zolgensma FDA approval](https://clinicforspecialchildren.org/dr-vincent-carson-contributes-to-sma-news-today-article-on-zolgensma-fda-approval/) - Dr. Vincent Carson, Pediatric Neurologist at the Clinic for Special Children, contributed commentary to a recent SMA News Today article on the FDA approval of Zolgensma, a gene therapy treatment for children with Spinal Muscular Atrophy (SMA). Click here to read the full article.
- [Novel Next Generation Sequencing Assay for Carrier Screening in Plain Populations Identified](https://clinicforspecialchildren.org/novel-next-generation-sequencing-assay-for-carrier-screening-in-plain-populations-identified/) - STRASBURG, PA- A new study has identified a novel next generation sequencing assay to carrier test for autosomal recessive disorders found in the Old Order Amish and Old Order Mennonite (Plain) populations. Due to the small number of founders and a phenomenon known as genetic drift, the Plain communities show relatively high carrier rates for
- [CSC's 30th Anniversary featured in Lancaster Newspapers](https://clinicforspecialchildren.org/cscs-30th-anniversary-featured-in-lancaster-newspapers/) - The Clinic for Special Children's 30 year history was featured in Lancaster Newspapers/Lancaster Online! The article includes a timeline of the Clinic's major milestones and achievements, information about our 30th anniversary books, our future goals, and information on genetics. Click HERE to read the article! Photo credit: Suzette Wenger, LNP
- [Enjoy CSC's Spring 2019 Newsletter](https://clinicforspecialchildren.org/enjoy-cscs-spring-2019-newsletter/) - In the 2019 Spring edition of the CSC newsletter, read about our upcoming 2019 Benefit Auction season, the Newswanger family's journey with NPRL3, our new Plain Insight Panel, the SMA Prevention Readiness Program, and the basics of gene replacement therapy. Read the 2019 Spring CSC Newsletter HERE
- [Clinic Volunteers Featured in April Issue of Lancaster County Magazine](https://clinicforspecialchildren.org/clinic-volunteers-featured-in-april-issue-of-lancaster-county-magazine/) - Clinic for Special Children volunteers, Carlyn Darby and John Thackrah, were featured in the April issue of Lancaster County Magazine. They explained "Why I Love to Volunteer" and the various ways that they support the mission of the Clinic. We are so thankful to everything they do to support us! Click the photo below
- [Researchers identify novel mass spectrometric quantification method of plasma GSL's in GM3 ganglioside deficiency](https://clinicforspecialchildren.org/researchers-identify-novel-mass-spectrometric-quantification-method-of-plasma-gsls-in-gm3-ganglioside-deficiency/) - STRASBURG, PA- Researchers from the Clinic for Special Children and University of Georgia have identified a novel mass spectrometric quantification method of plasma glycosphingolipids in human GM3 ganglioside deficiency. Human genetic disorders affecting early steps in glycosphingolipid (GSL) biosynthesis promulgate devastating neurological consequences. The research is published in the recent edition of Clinical Mass Spectrometry.
- [Jesse Crain's (Retired MLB White Sox player) family foundation hosts CSC fundraiser](https://clinicforspecialchildren.org/jesse-crains-retired-mlb-white-sox-player-foundation-hosts-csc-fundraiser/) - Each year the Crain Family Foundation organizes a special philanthropic event at the TopGolf in Scottsdale, AZ called 'Swing Fore the Kids'. The Crain Family Foundation was founded by retired White Sox MLB pitcher Jesse Crain and his wife, Becky Crain. The foundation partnered with Kris and Maureen Newkirk, parents of a child cared for
- [New CSC Auctions Website Launched!](https://clinicforspecialchildren.org/new-csc-auctions-website-launched/) - We now have an exclusive website for our benefit auctions! Visit www.ClinicAuctions.org to view the most up-to-date about our 2019 benefit auction season starting in June!
- [Plain Insight Panel featured on Lancaster Newspapers/LancasterOnline](https://clinicforspecialchildren.org/plain-insight-panel-featured-on-lancaster-newspapers-lancasteronline/) - The Clinic for Special Children's new Next Generation Sequencing technology was featured in an article on Lancaster Newspapers/LancasterOnline. Since 1989, the Clinic for Special Children in Strasburg has been identifying and treating rare genetic diseases among Plain sect people, including the Amish and Old Order Mennonites. Now, leaders of the nonprofit say, a new DNA testing method called
- [Researchers Publish Largest Description of ST3GAL5 (GM3 Synthase) Deficiency](https://clinicforspecialchildren.org/researchers-publish-largest-description-of-st3gal5-gm3-synthase-deficiency/) - STRASBURG, PA- Researchers have combined the largest description of ST3GAL5 (GM3 synthase) deficiency using detailed natural history data from 104 individuals of Amish ancestry born between 1986 and 2017 with a definite or probable diagnosis of ST3GAL5 deficiency. The study examined objective measures of biochemistry, auditory function, brain development, and caregiver burden. GM3 synthase is
- [Clinic Featured on SMA News Today](https://clinicforspecialchildren.org/clinic-featured-on-sma-news-today/) - The SMA News Today team visited our Clinic and wrote a comprehensive piece on what we do at the Clinic, especially with our recent work on Spinal Muscular Atrophy. "Visitors to the Clinic for Special Children (CSC) just outside Strasburg, Pennsylvania, might be forgiven for thinking they’ve made a wrong turn. Hidden at the end of
- [Dr. Kevin A. Strauss Speaks at Israel Society for Metabolic Disease (ISMD) Meeting](https://clinicforspecialchildren.org/dr-kevin-a-strauss-speaker-at-israel-society-for-metabolic-disease-ismd-meeting/) - On Wednesday, January 23, 2019, Dr. Kevin A. Strauss attended the Israel Society for Metabolic Disease (ISMD) Annual Meeting as an invited speaker in Petach Tikvah, Israel. During the meeting, Dr. Strauss delivered talks entitled 'Plain People and Precision Medicine' and 'Challenge and Opportunity: Gene-Based Therapies for Rare Disorders." To learn more about
- [2019 Benefit Auction Dates Announced!](https://clinicforspecialchildren.org/2019-auction-dates-announced/) - Join us for our 2019 Auction Season! Each auction promises a day of fun, fellowship, and good food! 7:00 a.m. Breakfast | 8:30 a.m. Auction Begins | Physician Remarks and Quilts to Follow Union County Auction Saturday, June 1, 2019 Friday, May 31, 2019 | Rib Dinner & Flower Auction | 5-8 p.m. Buffalo
- [Clinic for Special Children's Work Highlighted in USA Today](https://clinicforspecialchildren.org/clinic-for-special-childrens-work-highlighted-in-usa-today/) - The Clinic for Special Children's work was recently highlighted in partnership with Nemours/A.I. duPont Children's Hospital in an article on USA Today & Delaware News Journal. The story is titled "Saving Grace: Amish families are working with doctors and researchers to save a young girl's life " and was written by reporter Meredith Newman with
- [Dr. Kevin A. Strauss Delivers Keynote Address at Hot Topics Conference](https://clinicforspecialchildren.org/dr-kevin-a-strauss-delivers-keynote-address-at-hot-topics-conference/) - On December 3, 2018 Dr. Kevin A. Strauss, Medical Director at the Clinic for Special Children, gave a Keynote Address at the 2018 Hot Topics in Neonatology Conference in Washington D.C. His address was titled "Plain People and Precision Medicine." Click HERE to watch a follow-up interview to his Keynote Address.
- [You Can Help Provide Bright Futures for Children Like Kaiden](https://clinicforspecialchildren.org/a-chance-to-help-children-like-kaiden-hurst/) - The Hurst family graciously wrote their first-hand experience with the Clinic for Special Children for our Annual Giving Appeal. You can read their heart-touching story below, with an opportunity to give children, like Kaiden, a bright future. Greetings from the Hurst Family! As our family says goodbye to an eventful year (or maybe I
- [Dr. Kevin A. Strauss named 2018 Rural Health Community Star](https://clinicforspecialchildren.org/dr-kevin-a-strauss-named-2018-rural-health-community-star/) - Each year the National Organization of State Offices of Rural Health (NOSORH) organizes National Rural Health Day, an annual day of recognition for those who serve the vital health needs of nearly 60 million people residing in America's rural communities, estimated to be 1 in 5 Americans. In 2015, NOSORH launched the "Community Star" recognition
- [Researchers Find Multisystem Disorder Caused by CCDC47 Variants](https://clinicforspecialchildren.org/researchers-find-multisystem-disorder-caused-by-ccdc47-variants/) - STRASBURG, PA & TOPEKA, IN- Researchers and clinicians through a multicenter collaboration have identified a novel multisystem disorder caused by bi-allelic variants in the CCDC47 gene. Their findings are reported in The American Journal of Human Genetics. CCDC47 is responsible for encoding an essential calcium (Ca2+)-binding protein involved in embryogenesis and development. Calcium signaling is
- [Over $62,000 Raised Through 2018 ExtraOrdinary Give!](https://clinicforspecialchildren.org/over-62000-raised-through-2018-extraordinary-give/) - On Friday, November 16, 2018 over 210 Extraordinary people made a donation to the Clinic for Special Children with over $62,000 raised in just 24 hours! The community shattered our goal of $45,000 for this year's ExtraGive! In 2017, $40,000 was raised through the ExtraGive for the Clinic. The ExtraOrdinary Give is Lancaster County's largest
- [Researchers Find Novel Mutation Affecting YARS Causes Multisystem Disease](https://clinicforspecialchildren.org/researchers-find-novel-mutation-affecting-yars-causes-multisystem-disease/) - STRASBURG, PA- Researchers have identified a novel missense mutation in tyrosyl-tRNA synthetase (YARS c.499C>A, p.Pro167Thr) that causes a severe recessive disorder in affected individuals. The study, led by clinicians, researchers and collaborators of the Clinic for Special Children in Strasburg, PA, appears in Human Molecular Genetics. The report includes detailed clinical characterization of seven related
- [Enjoy CSC's Fall Newsletter!](https://clinicforspecialchildren.org/enjoy-cscs-fall-newsletter/) - In this edition of the CSC newsletter, read about the Watson family's journey with GA-1, our partnership with the Strasburg Rail Road, new CSC staff members, recent research study updates, a recap of the 2018 auctions, new SMA carrier testing, the upcoming Extraordinary Give, Lancaster General Health Family Medicine residents at CSC & more! Read
- [THANK YOU for making our first Clinic for Special Children 5k a SUCCESS!](https://clinicforspecialchildren.org/thank-you-for-making-our-first-5k-a-success/) - THANK YOU to everyone who came out on Saturday, September 22nd and made our first Clinic for Special Children 5k such a success! Because of you and over 280 registrants, a total of $24,000 was raised to benefit the Clinic! The race results are posted on the Pretzel City Sports website here. To view more photos, please
- [Register Now! Clinic for Special Children 5k](https://clinicforspecialchildren.org/register-now-clinic-for-special-children-5k/) - Please join us for our FIRST 5K Run/Jog/Walk to benefit Clinic for Special Children! $100 CASH PRIZE for overall top male & female runners! Enjoy a 5K, free refreshments, a silent auction, and crafts for kids among the many family-friendly activities planned for the day! Proceeds support the mission of Clinic for Special Children, a
- [Researchers Correlate Spinal Muscular Atrophy Disease Expression with Haplotypes](https://clinicforspecialchildren.org/researchers-correlate-spinal-muscular-atrophy-disease-expression-with-haplotypes/) - STRASBURG, PA- A natural history study has provided the first comprehensive clinical description of spinal muscular atrophy (SMA) within the Amish and Mennonite communities and correlates ancestral chromosome 5 haplotypes and SMN2 copy number with disease severity. SMA is a devastating genetic disease that affects the motor neurons that control movement, eating, and breathing. It
- [New Nusinersen Drug Delivery Method Identified for Spinal Muscular Atrophy Patients](https://clinicforspecialchildren.org/new-nusinersen-drug-delivery-method-identified-for-spinal-muscular-atrophy-patients/) - STRASBURG, PA- A new report has identified an alternative method to deliver nusinersen to patients with spinal muscular atrophy (SMA) using a subcutaneous intrathecal catheter system (SIC) configured by connecting an intrathecal catheter to an implantable infusion port. SMA is a devastating genetic disease that leads to progressive degeneration of motor neurons that control movement,
- [Enjoy CSC's Summer 2018 Newsletter!](https://clinicforspecialchildren.org/enjoy-cscs-summer-2018-newsletter/) - In this edition of the CSC newsletter, read about the Martin family's inspiring journey with Kleefstra Syndrome. Also in this issue is the story of Margaretha whom the Clinic met while on a medical mission to Mexico and Drs. Matt Demczko and Mike Fox returning to CSC. Additional spotlights include our upcoming events, Clinic
- [Amish Nemaline Myopathy Natural History Study Finds Promise for Gene Therapy Treatment](https://clinicforspecialchildren.org/amish-nemaline-myopathy-natural-history-study-finds-promise-for-gene-therapy-treatment/) - STRASBURG, PA- A new comprehensive natural history study about Amish nemaline myopathy (ANM) in the Old Order Amish population focuses on the promise of gene therapy for this lethal disorder. Amish nemaline myopathy (ANM) is an infantile-onset muscle disease linked to a mutation of the TNNT1 gene. The study summarizes genealogical records, clinical data, and
- [Register here for our FIRST annual Clinic for Special Children 5K Run/Walk/Jog - September 22](https://clinicforspecialchildren.org/register-here-for-our-first-annual-clinic-for-special-children-5k-run-walk-jog-september-22/) - Please join us for our FIRST 5K Run/Jog/Walk to benefit Clinic for Special Children! Enjoy a 5K, free refreshments, a silent auction, and crafts for kids among the many family-friendly activities planned for the day! Proceeds support the mission of Clinic for Special Children, a medical home for children living with rare genetic disease. Register
- ['Clinic Seeks Solutions for Rare Gene Disorder' by Lancaster Farming](https://clinicforspecialchildren.org/clinic-seeks-solutions-for-rare-gene-disorder-by-lancaster-farming/) - Eugene and Jeanette Horning sat down with Lancaster Farming news to talk about their unique journey raising a special child living with a random gene deletion, only found in 15 other people worldwide at the time of her diagnosis. Olivia is missing a gene that facilitates the brain-muscle connection which requires her to process information
- [Thank you to Dr. Katie B. Williams for her service to CSC](https://clinicforspecialchildren.org/thank-you-to-dr-katie-b-williams-for-her-service-to-csc/) - Dr. Katie Williams spent her last day at CSC on June 1st, traveling this week to continue her pediatric practice in her home state of Wisconsin. We would like to express our gratitude to Dr. Williams for her four years of invaluable service to the Clinic for Special Children through her devotion to the patients and families
- [Registration for our 2018 midwife conference is open!](https://clinicforspecialchildren.org/registration-for-our-2018-midwife-conference-is-open/) - Midwifery Pearls: Caring for the Newborn Clinic for Special Children's 2018 Midwife Conference Thursday, May 24th | 8:30 a.m. to 4:30 p.m. at Clinic for Special Children in Strasburg, PA *Please Register by May 18th This event is designed to provide midwives with the most up-to-date information, emphasizing recent developments in midwifery healthcare practice and
- [2018 Auction Dates, Times, and Locations](https://clinicforspecialchildren.org/2018-auction-dates-times-and-locations/) - Auction Time is Near! Join us for our 2018 auction season! Come out for days of fun, food, and fellowship. 7:00 AM Breakfast | 8:30 Auctions Begin | Physician Remarks and Quilts to Follow Handmade quilts, handcrafted furniture, wooden crafts, sporting goods, handmade toys and garden plants will be available for buyers at our auctions. A
- [Please enjoy CSC's spring 2018 newsletter!](https://clinicforspecialchildren.org/please-enjoy-cscs-spring-2018-newsletter/) - In our spring 2018 newsletter, read the intimate story of Ken and Joanna Weaver's journey with rare genetic disease, raising four boys with spinal muscular atrophy (SMA) in a vision of hope, joy, and love. Also in this issue, we reveal new services offered for patients and their families, auction news, details about our upcoming
- [A New Service Available: SMA Carrier Testing](https://clinicforspecialchildren.org/a-new-service-available-sma-carrier-testing/) - After months of development, the CSC laboratory is proud to announce two new tests for spinal muscular atrophy (SMA), tests that have significant implications for the services and care we offer to the patient families we serve. SMA is a devastating genetic disease that is found within the Plain community but also diagnosed world wide.
- [Dr. Strauss special feature published by Lancaster Newspaper and LancasterOnline](https://clinicforspecialchildren.org/dr-strauss-special-feature-published-by-lancaster-newspaper-and-lancasteronline/) - Published this weekend by Lancaster Newspaper and LancasterOnline, read Dr. Kevin Strauss's special feature written about CSC's practical application of genomic medicine to develop innovative therapies for children living with rare genetic disease, 'Case of a Brazilian boy, genomic medicine and a county clinic.' Read the full article here.
- [CSC featured in Boston Globe Media's STAT for role in helping to create pathways for access to specialized care](https://clinicforspecialchildren.org/csc-featured-in-boston-globe-medias-stat-for-role-in-helping-to-create-pathways-for-access-to-specialized-care/) - Published by STAT of Boston Globe Media on May 8, 2018, CSC and Dr. Kevin A. Strauss were featured in a national article highlighting financial barriers the Plain community faces in accessing specialized medical therapies and featuring CSC’s unique role in creating pathways to access for both patients of CSC and the Amish and Mennonite
- [CSC's 2017 Annual Report - Your Impact](https://clinicforspecialchildren.org/cscs-2017-annual-report-your-impact/) - Each year, CSC releases an annual report, expressing gratitude to all of our supporters and relaying the impacts of their generosity through stories. Today we are releasing our 2017 report. In the report we highlight the journey of a family with Spinal Muscular Atrophy, important advances in research, and the ways we have engaged the communities
- [Retired MLB pitcher Jesse Crain and wife host Arizona event for CSC with Newkirk family](https://clinicforspecialchildren.org/retired-mlb-pitcher-jesse-crain-and-wife-host-arizona-event-for-csc-with-newkirk-family/) - Last week, Clinic for Special Children's Dr. Kevin Strauss (Medical Director) and Teresa Rineer (Development Director) traveled to Scottsdale, Arizona to participate in a special philanthropic event organized to help children living with rare disorders and raise awareness about CSC's work with rare genetic disease. Retired White Sox pitcher Jesse Crain and his wife Becky partnered
- [The Ephrata Review highlights CSC's Dr. Williams and the story of a life saved](https://clinicforspecialchildren.org/the-ephrata-review-highlights-cscs-dr-williams-and-the-story-of-a-life-saved/) - Through a partnership between the Clinic for Special Children in Strasburg, PA, Cardiology Care for Children in Lancaster, PA, and midwives throughout the region, babies born at home are receiving vital wellness screenings and, if a problem is detected, get immediate medical care before they become critically ill. The test, called pulse oximetry, measures the
- [CSC a site for first Crigler-Najjar gene therapy clinical trial in the world](https://clinicforspecialchildren.org/csc-a-site-for-first-crigler-najjar-gene-therapy-clinical-trial-in-the-world/) - As we strive to stay at the forefront of medical innovation and revolutionary therapies for complex genetic disorders, Clinic for Special Children becomes an important site for the first gene therapy clinical trial for Crigler-Najjar Syndrome in the world. "From Blue Lights to Gene Therapy: The Intriguing History of Crigler-Najjar Syndrome" talks about the Clinic
- [A New Research Operations Department at the Clinic for Special Children](https://clinicforspecialchildren.org/a-new-research-operations-department-at-the-clinic-for-special-children/) - Patient focused research has always been an important component of CSC’s mission. We strive to translate research and medical knowledge into practical benefit for the patient families we serve. In order to better support our research programs, we have some exciting staff changes to announce. A Research Operations team has been established to manage and
- [Dr. Erik Puffenberger's 20th Anniversary of Service!](https://clinicforspecialchildren.org/dr-erik-puffenbergers-20th-anniversary-of-service/) - This week we celebrate a very important staff milestone: our laboratory director, Dr. Erik Puffenberger's, 20th anniversary of employment at the Clinic for Special Children. Over the last 20 years Dr. Puffenberger, PhD has devoted his service at CSC to determining the genetic causes of disease in order to help improve and save the lives
- [Pittsburgh Post-Gazette Article Featuring CSC's Partnership with Children's Hospital of Pittsburgh](https://clinicforspecialchildren.org/pittsburgh-post-gazette-article-featuring-cscs-partnership-with-childrens-hospital-of-pittsburgh/) - The Clinic for Special Children was featured in Sunday's Pittsburgh Post-Gazette newspaper, the article highlighting CSC's invaluable partnership with the Children's Hospital of Pittsburgh and unique niche within the science and medical communities. Read the Full Article Here
- [Please Join Us in Welcoming Teresa Rineer, Development Director](https://clinicforspecialchildren.org/please-join-us-in-welcoming-teresa-rineer-development-director/) - Please join me in welcoming Teresa Rineer, BS to CSC as our Development Director. Teresa graduated magna cum laude from Millersville University with her Bachelors of Science degree in communications and a concentration in public relations. She is currently a member of the Association of Fundraising Professionals. As the Clinic for Special Children’s Development Director,
- [NEW TEDx business talk by Cindy Bo, MBA, CSC board of directors](https://clinicforspecialchildren.org/new-tedx-business-talk-by-cindy-bo-mba-csc-board-of-directors/) - Cindy Bo, MBA, a member of CSC's board of directors and Chief Strategy & Business Development Officer at A.I. duPont Hospital for Children| Nemours, delivered a compelling TEDx talk with an inspiring message about how some of the greatest business lessons can been learned through life experience in the selfless acts of others. The lessons she
- [Join our 2017 Campaign! The clinic experience through the eyes of a patient family](https://clinicforspecialchildren.org/join-our-2017-campaign-the-clinic-experience-through-the-eyes-of-a-patient-family/) - To make a donation online: Give Here To mail your gift, send your donation to: Clinic for Special Children PO Box 128 Strasburg, PA 17579
- ["In its first medical mission, Strasburg Clinic treats Mennonite children in Mexico": Story by Lancaster Newspaper](https://clinicforspecialchildren.org/in-its-first-medical-mission-strasburg-clinic-treats-mennonite-children-in-mexico-lancaster-newspaper-article/) - Through CSC's first medical missions outreach trip to a remote Mennonite colony in Mexico, our clinicians were able to evaluate 33 patients and help advise treatment for conditions from ear infections to life threatening ailments with potential underlying genetic derivations. “It is the first time an outside entity has ever been permitted to have a
- [CSC Featured in Lancaster Physician Magazine for Partnership with WellSpan Philhaven](https://clinicforspecialchildren.org/csc-featured-in-lancaster-physician-magazine-for-partnership-with-wellspan-philhaven/) - Clinic for Special Children was featured in the Fall 2017 issue of Lancaster Physician Magazine for our partnership with WellSpan Philhaven in providing therapies for children who suffer from behavioral health challenges, many times coinciding with an underlying genetic condition. We partner with Dr. John Dolena and psychologist Jennifer Hailey, both pictured above in a photograph
- ["Sweet Odyssey": The Santos family's inspiring journey from a rare disease diagnosis to the cure](https://clinicforspecialchildren.org/sweet-odyssey-the-santos-familys-inspiring-journey-from-a-rare-disease-diagnosis-to-the-cure/) - A CSC patient family, Idario Santos and son Vinicius were recently interviewed by KDKA out of Pittsburgh, Pennsylvania about their inspiring book, Sweet Odyssey, in which they tell the story of Artur Santos's (son to Idario and brother to Vinicius) incredible journey living with Maple Syrup Urine Disease (MSUD). Their book walks the reader through
- [NPR Special: Science and Religion (featuring the Clinic for Special Children)](https://clinicforspecialchildren.org/npr-feature-science-and-religion-featuring-the-clinic-for-special-children/) - National Public Radio (NPR) featured the Clinic for Special Children in a special program that investigates the unique roles science and religion play in modern medicine across different populations, including Amish and Mennonite communities. A Mennonite patient family seen at CSC, the Leinbach family, talks about their emotional journey through their daughter's diagnosis with Maple
- [CSC's Whoopie Pie Toss for Extraordinary Give!](https://clinicforspecialchildren.org/cscs-whoopie-pie-toss-for-extraordinary-give/) - The countdown to the 2017 Extraordinary Give is on! On November 17, 2017 donations will be accepted from 12 midnight - 11:59 PM as part of Lancaster County's largest day on online giving. Every dollar donated at ExtraGive.org on November 17th will be stretch by a pool of at least $300,000 from the Lancaster County
- [CSC Featured on WGAL for International Impact](https://clinicforspecialchildren.org/csc-featured-on-wgal-for-international-impact/) - Here is a video WGAL News Channel 8 Susquehanna Valley, Pa featured on their 6 PM broadcast earlier this month. Although about 90% of CSC patients are from the Old Order Amish or Mennonite communities, around 10% are patients like Lucas and Davi. We strive to increase the quality of life and alleviate suffering for
- [A New Video: Making Healthcare Accessible to the Plain Community, A Talk by CSC Leadership](https://clinicforspecialchildren.org/a-new-video-making-healthcare-accessible-to-the-plain-community-a-talk-by-csc-leadership/) - Watch our newest video to learn about how the Clinic for Special Children helps to make medical care more accessible for the Plain communities. Talk by CSC staff members Dr. Kevin Strauss (Medical Director), Dr. Erik Puffenberger (Laboratory Director), and Adam Heaps (Executive Director) in Ephrata, PA. Click Here to Watch the Video
- [Welcome to Three New Staff Members!](https://clinicforspecialchildren.org/welcome-to-three-new-staff-members/) - Candace Kendig Candace Kendig joined CSC as a Medical Receptionist in 2017. She earned her Associates Degree in Specialized Technology, majoring in Medical Assisting in 2006. Prior to working at CSC, she had 10 years experience working as an Administrative Medical Assistant for a Specialty office located in Lancaster. "I am passionate about working for
- [This Saturday 9/8! Our Last Auction of the Season!](https://clinicforspecialchildren.org/this-saturday-98-our-last-auction-of-the-season/) - Join us for our Blair County Auction, our last auction of the season! Come out for a day of fun, food and fellowship! Blair County Auction | September 9, 2017 Morrison’s Cove Produce 174 Windy Acres Lane|Roaring Spring, PA 16673 7:00 AM Breakfast | 8:30 Auction Begins | Physician Remarks and Quilts to Follow Handmade quilts,
- [Welsh Mt./Garden Spot Run/Walk to Benefit CSC](https://clinicforspecialchildren.org/welsh-mt-garden-spot-runwalk-to-benefit-csc/) - Join us and take a run along the scenic Welsh Mountain on Saturday, October 21! The event is a 5k & 10k Run/Walk event at the Welsh Mountain Park/Community Center just outside New Holland. The run is through country roads with a great autumn view of the valley. Entrants are requested to bring 2 non-perishable
- [Auction Season is Upon Us! Find Dates Here](https://clinicforspecialchildren.org/auction-season-is-upon-us-find-dates-here/) - Auction Time is Near! Join us for our 2017 auction season! Come out for days of fun, food and fellowship at our 2017 auctions! 7:00 AM Breakfast | 8:30 Auction Begins | Physician Remarks and Quilts to Follow Handmade quilts, handcrafted furniture, wooden crafts, sporting goods, handmade toys and garden plants will be available for buyers
- [Our Fall 2017 Newsletter is Here!!](https://clinicforspecialchildren.org/our-fall-2017-newsletter-is-here/) - Twelve-year-old Lewis Martin, living with a previously lethal disease (SMA), became the first child in the world to receive a new, effective medication through a specializing catheter designed by a physician that had been evaluating Lewis at the Clinic for Special Children. His story is one of hope, medical ingenuity, and the love and
- [CSC's Fellow Physicians Featured in 'Plain folk, complex problems: Valley grads doctor Amish families'](https://clinicforspecialchildren.org/cscs-fellow-physicians-featured-in-plain-folk-complex-problems-valley-grads-doctor-amish-families/) - Matt Demczko, MD and Mike Fox, MD, two former fellow pediatricians at CSC, were featured in The Daily Item's 'Plain folk, complex problems: Valley grads doctor Amish families' for their unique work on the cutting edge of care with the Amish community. The Clinic for Special Children enjoyed the privilege of working closely with the two
- [Sept 8th Join Us for a Special Tour and BBQ!](https://clinicforspecialchildren.org/sept-8th-join-us-for-a-special-tour-and-bbq/) - Please join us for a beautiful 2 hour tour of Lancaster County and a BBQ lunch with the added bonus of supporting the Clinic for Special Children!
- [A New Addition to CSC's Board of Directors!](https://clinicforspecialchildren.org/a-new-addition-to-cscs-board-of-directors/) - We are happy to announce Cindy Bo, MBA has joined CSC's Board of Directors! Cindy is the Chief Strategy & Business Development Officer at A.I. duPont Hospital for Children| Nemours. Cindy received her Bachelor's degree from Binghamton University and her MBA from Columbia Business School. She has long been an advocate for the Clinic's mission and we look forward
- [The Daily Item - June 11, 2017 - Union County Auction Article](https://clinicforspecialchildren.org/dailyitemunionco2017/) - The Union County Benefit Auction to support the Clinic for Special Children was held on June 3rd, 2017. The attached article was featured in The Daily Item on June 11 and highlights the Clinic's impact and how there are so many volunteers and supporters that work together to allow CSC to pursue its mission. 2017
- [Join Us Thursday on the National Day of Prayer](https://clinicforspecialchildren.org/join-us-thursday-on-the-national-day-of-prayer/) - National Day of Prayer Community Breakfast Scenic Village Conference Center @ Harvest Drive 3368 Harvest Drive, Gordonville, PA 7am-9am Join us this Thursday for a free Community Prayer Breakfast for the National Day of Prayer in support of the Clinic for Special Children! Breakfast will be served from 7am-8am with a prayer service to follow. Join in
- [CSC's Spring 2017 Newsletter!](https://clinicforspecialchildren.org/cscs-spring-2017-newsletter/) - Read the Clinic for Special Children's Spring 2017 newsletter here! Featured in this issue are auction details including dates and locations, staff changes, exciting updates to CSC's collaborative translational medicine projects, personal patient stories, letters, and testimonies, a local cardiologist's inspiring story of courage, determination, and success, announcements about our upcoming events and meetings,
- [Happy 28th Anniversary, CSC!](https://clinicforspecialchildren.org/happy-28th-anniversary-csc/) - Happy 28th Anniversary, CSC! 28 years ago, the Clinic for Special Children opened its doors for the first time to care for children suffering from rare genetic diseases in Lancaster County. Fast forward to 2017, and the Clinic is now a world leader in personalized genomic medicine. Our staff of 15 dedicated individuals treats more
- [2016 Annual Report](https://clinicforspecialchildren.org/2016-annual-report/) - We are delighted to present to you the Clinic for Special Children's 2016 Annual Report. The past year has been a year of innovation and growth as the Clinic continues lead the world of personalized genomic medicine. Through a focus on providing comprehensive local medical care, integrating science and clinical medicine, and sharing knowledge to improve the health
- [Caring for Special Children in Your Communities](https://clinicforspecialchildren.org/caring-for-special-children-in-your-communities/) - Please join us for a lecture by the Clinic for Special Children on how we can come together to support special children by saving healthcare costs, while improving the quality and effectiveness of medical care in your community. CARING FOR SPECIAL CHILDREN IN YOUR COMMUNITIES A Talk by the Clinic for Special Children (CSC) 2pm-4pm
- [Rare Disease Day | February 28, 2017](https://clinicforspecialchildren.org/rare-disease-day-february-28-2017/) - Please join us in celebrating Rare Disease Day! This specially designated day is devoted to raising awareness amongst the general public, researchers, policy makers, and many others whose lives are impacted by rare disease. We hope that the day's activities and campaigns serve as an inspiration and empower people in our community and beyond to
- [CSC Welcomes a New Nurse, Keturah Beiler!](https://clinicforspecialchildren.org/csc-welcomes-a-new-nurse-keturah-beiler/) - We are excited to introduce to you Keturah Beiler, the newest member of our CSC clinical team! Keturah earned her associates degree and nursing certification through Harrisburg Area Community College. As a part-time registered nurse with the Clinic, she will be organizing and administering immunizations, assisting with general patient care, and will be supporting the
- [Juniata University Students Visit CSC](https://clinicforspecialchildren.org/juniata-university-students-visit-csc/) - Recently CSC hosted students, teachers, and administrators visiting from Juniata College in Huntingdon, PA who were interested in learning about our unique model of healthcare, research, and communications. This group represented a diversity of different health majors and professional backgrounds from the college. We were inspired not only by their passion and engagement, but also
- [Meet Dr. Matt Demczko!](https://clinicforspecialchildren.org/meet-dr-matt-demczko/) - Dr. Matt Demczko recently completed a six month fellowship with the Clinic for Special Children. Dr. Demczko is a 2008 graduate of Franklin and Marshall College where he majored in biology and religious studies with a specific focus in genetics. Through one of his courses, Intro to Genetics, he became very interested in the genetics
- [2016 Annual Campaign!](https://clinicforspecialchildren.org/2016-annual-campaign/) - November 2016 This is the time of year we surround ourselves with the love of family and friends and give thanks for our many blessings. At the Clinic for Special Children, we give thanks for you; your trust and support allow us to alleviate suffering and change lives. We are inspired to share
- [Extraordinary Give 2016 Recap!](https://clinicforspecialchildren.org/join-us-and-give-extra/) - For the 5th year in a row, CSC joined over 400 nonprofits looking for support during Lancaster County's Extraordinary Give. Just 24 hours produced over 138 individual gifts and raised over $35,000 for the Clinic this! Best of all, each gift is stretched by matching funds and bonus awards. One day of extra giving from our global community makes an extraordinary difference for the children
- [A Key Addition to our Board of Directors](https://clinicforspecialchildren.org/richard_fluck/) - We are very pleased to announce the appointment of Richard A. Fluck, PhD to the clinic's Board of Directors! Dr. Fluck has a 41-year career at Franklin & Marshall College, one of the clinic's most important partners in Lancaster County. Dick worked in the biology department for more than 30 years, teaching courses such as
- [The Inspiring Story of Conor by Levi Gershkowitz](https://clinicforspecialchildren.org/the-inspiring-story-of-conor-by-levi-gershkowitz/) - We are grateful to be able to share our patients' inspiring stories with you like the following narrative by Living in the Light's Levi Gershkowitz. Conor is an energetic two year old with a larger than life personality, living with Maple Syrup Urine Disease (MSUD). His mother, Julia, walks the reader through their family's most
- [Karlla Brigatti is Honored in New Book, "Code Talkers"](https://clinicforspecialchildren.org/karlla-brigatti-is-honored-in-new-book-code-talkers/) - We are so excited that our genetic counselor, Karlla Brigatti, was featured in Code Talkers, Genome Magazine's book written to honor genetics experts who profoundly impact healthcare while communicating with extraordinary compassion and care. A patient reflects, "Her dedication, support, and compassion are unparalleled in an age when medicine has become so corporate. She is
- [Dr. Vincent Carson Featured in LNP and LancasterOnline](https://clinicforspecialchildren.org/dr-vincent-carson-featured-in-lnp-and-lancasteronline/) - Dr. Vincent Carson, our first staff pediatric neurologist, was featured in an inspiring interview by LNP and LancasterOnline. As the number of patients under the Clinic’s care grows, it is important to ensure that our clinical staff grows in parallel. We are proud to announce that Dr. Vincent Carson joined CSC’s team in July 2016.
- [F&M Talk: Bringing Advanced Medical Technology to the Plain Community](https://clinicforspecialchildren.org/fm-talk-bringing-advanced-medical-technology-to-the-plain-community/) - We would like to extend a big 'thank you' to Dr. Katie Williams and Dr. Devyani Chowdhury for their F&M talk on Bringing Advanced Medical Technology to the Plain Community. Dr. Williams and Dr. Chowdhury shared their empowering stories detailing how two projects they have been working on for the last few years that started
- [Read our Fall 2016 Newsletter Here!](https://clinicforspecialchildren.org/read-our-fall-2016-newsletter-here/)
- [Dr. Williams Featured in Gulf News Magazine, Dubai](https://clinicforspecialchildren.org/dr-williams-featured-in-gulf-news-magazine-dubai/) - Dr. Katie Williams was interviewed recently for a feature in Gulf News Magazine out of Dubai, highlighting her expertise on Ellis-van Creveld syndrome (EVC), a rare genetic disorder that causes dwarfism. The Clinic for Special Children currently treats the largest number of EVC children in the world. Thank you to Dr. Williams for the international
- [20th Anniversary Blair County Auction! | September 10, 2016](https://clinicforspecialchildren.org/auction-season-lancaster-county-auction-june-18-2016/) - It's Auction Season! Join us on September 10, 2016 in celebrating the 20th anniversay of our Blair County Annual Public Benefit Auction and Bake Sale! Come out for a day of fun, food and fellowship at our last auction of 2016! Handmade quilts, handcrafted furniture, wooden crafts, sporting goods, handmade toys and garden plants will
- [Featured Story: Clinic in a Cornfield](https://clinicforspecialchildren.org/featured-story-clinic-cornfield/) - The Clinic for Special Children is featured in the January 2016 issue of Genome Magazine, detailing how a clinic in a cornfield, nestled among the rural backroads of Strasburg, PA, blends simplicity with cutting-edge science. Highlighted is an inspiring personal account of one family’s difficult journey with Pretzel Syndrome and the clinic’s remarkable impact through their diagnosis,
- [Feature Story: "Genomics for the People"](https://clinicforspecialchildren.org/scientificamerican/) - Friends, Three years ago, the Editor-in-Chief of Scientific American visited the clinic and offered me the opportunity to write a feature article for the magazine. When I was a young boy, Scientific American nurtured my curiosity and growing love of science. It was this magazine more than any other that started me on the
- [A Handbook for Rare Disease](https://clinicforspecialchildren.org/cah-handbook/) - As CSC discovers new disease and uncovers breakthroughs on existing conditions, our clinical team faces a growing challenge: How do we provide parents with the best information available to care for children with complex medical needs? CSC expanded the popular "Family Education Day" series two years ago to cover more diseases and touch more families. We now hold an
- [Parents, Clinic Support Newborn Farm Daughter Through Crisis](https://clinicforspecialchildren.org/parents-clinic-support-newborn-farm-daughter-through-crisis/)
- [DDx3x Family Day](https://clinicforspecialchildren.org/ddx3x-family-day/) - Family from across the country came together last week at CSC, and LNP News did a beautiful job capturing the day with two great articles and accompanying photography! Diagnosis is the most important step to uncovering life-giving treatments, and the clinic is glad that we could be one part in the DDx3x story! Special thanks to Cindy
- [Summer at CSC with Great Students!](https://clinicforspecialchildren.org/2015-summerstudents/) - Our 2015 summer students represent a diversity of interests and talents and exemplify our mission of research and education. We are honored to host the following three students: Michael Setzer (pictured left) is a 2014 graduate of Carnegie Mellon University with a bachelor of science in technical writing and biological sciences. He is also a current student in
- [2015-2016 Avery Fellow: Kendra Poirier](https://clinicforspecialchildren.org/2015-2016_averyfellow/) - We are very pleased to announce our 4th Avery Fellow, Kendra Poirier! Born and raised in Hilltown, PA, Kendra comes to CSC from Franklin & Marshall College with a bachelor’s of arts in Public Health and Biology and a minor in German. She spent three years as a varsity swimmer and now plays rugby for
- [Education, Research, and Children in Need](https://clinicforspecialchildren.org/benkert-laboratory-casestudy/) - A laboratory case study from our 2014 annual report Abby Benkert was no stranger to the Clinic for Special Children. As an undergrad at Franklin & Marshall College, Abby worked with Professor Rob Jinks on cellular studies, helping CSC to uncover fundamental principles of newly discovered genetic disease. Her interest grew in the clinic, and she
- [What is wrong with our child?](https://clinicforspecialchildren.org/what-is-wrong-with-our-child/) - A clinical case study from our 2014 annual report Eight months ago, a family came to our clinic as a referral from a trusted friend and provider at a nearby children’s hospital. Just as we have done for countless families for more than 25 years, the Clinic for Special Children sought to answer a deceptively
- [Lancaster County Benefit Auction!](https://clinicforspecialchildren.org/2015-auctions/) - It's the last auction of the season! The day begins with breakfast at 7:00AM and end when the last item is sold. Don't forget your chicken BBQ! Lancaster County - Saturday, September 19th Leola Produce Auction 135 Brethren Church Road Leola, PA 17540 → Directions → Sale Bill → Auction Reminder The stunning Nautical Star Quilt by Magdalena Stoltzfus - up for
- [CSC's 2014 Annual Report](https://clinicforspecialchildren.org/2014-annual-report/) - This is the first time the clinic has offered a publicly accessible annual report. We want to share our successes, challenges, and opportunities, while making our finances and needs transparent. We recognize trust is the bedrock of the clinic’s future – Trust between patients and staff, trust between supporters and the institution, and trust between those
- [New Hope and Collaborative Support from UGA & WM Keck](https://clinicforspecialchildren.org/gm3-uga-keck/) - PICTURED ABOVE: Joshua Wesalo presents at CSC for a GM3 Family Education Day, 2014 New hope and collaborative support for a devastating neurological disorder Strasburg, PA – Two years ago, Dr. Michael Tiemeyer from the University of Georgia visited CSC for a family meeting about GM3 synthase deficiency, a devastating neurological disorder found in the Old
- [Growth and Progress for Patient Care](https://clinicforspecialchildren.org/growth-progress/) - As 2015 approaches and we conclude our 25th anniversary year, the clinic has added two new positions that reflect steady progress for the care and support of our patients! Karlla Brigatti joined CSC this past October as our first genetic counselor. With Karlla's help, the families we serve will gain a deeper understanding of new
- [Featured Story - Lancaster Physician](https://clinicforspecialchildren.org/lancaster-physician/)
- [3 years of “Hearing” with Nemours](https://clinicforspecialchildren.org/nemours-audiology/) - In November of 2011, a team from Nemours Alfred I. duPont Hospital for Children came to see patients at the clinic suffering from hearing loss. 3 years later, we have worked together to help over 60 families and have published two peer-reviewed scientific papers, including a novel hearing loss gene. “The Clinic for Special Children is a
- [Thank you for a Record Auction Season!](https://clinicforspecialchildren.org/auction-thankyou/) - 30,000 donuts sold, 900 lbs. of whoopie pie filling prepared, chicken BBQ sold out by 1:00PM, over 1,650 bidders and over 7,000 attendees Just a few unbelievable statistics from our Lancaster County benefit auction! We are grateful for the support of so many friends last Saturday - a record year in every way. Our staff
- [The Memory Tree - 25th Anniversary Sculpture](https://clinicforspecialchildren.org/memory-tree/) - We're excited to share "The Memory Tree" with you today, a video tribute to the Clinic's 25th Anniversary and a very special sculpture that will be auctioned at our September 20th Benefit Auction. Mark your calendars, and please share with your friends! https://vimeo.com/102595550
- [A Day in the Lab](https://clinicforspecialchildren.org/day-lab/) - I feel a prick as the needle is quickly inserted. Red trickles out as the sun moves in, beginning my day in the lab at the clinic. My goal is to learn about genetic testing - why that is so important and how the clinic does it in a way that differs from the majority of
- [10 Years of Live Transplants with Children's Hospital of Pittsburgh](https://clinicforspecialchildren.org/10-years-liver-transplants-upmc/) - Over 80 liver transplants and counting for CSC patients and the talented team at the Children's Hospital of Pittsburgh led by Dr. George Mazariegos! 2014 marks the Clinic's 25th Anniversary, but it also marks 10 years of hope for patients with Maple Syrup Urine Disease and Crigler-Najjar Syndrome. Like many great scientific discoveries, this story begins
- [From Lancaster County to Georgetown University](https://clinicforspecialchildren.org/lanccounty-georgetown/) - Editors Note: Elizabeth was accepted into Georgetown University, and starts her freshman year this fall. She chose to write her college essay on her experience at the Clinic, and we wanted to share this with you as part of her wonderful Rumspringa blog. Congratulations, Elizabeth! As I hold the test tube to the light, I
- [Three Top Female Scientists from Franklin & Marshall College](https://clinicforspecialchildren.org/topfemalescientists-franklin-marshall/) - Franklin & Marshall College is one of the Clinic's closest friends and collaborative institutions. Since 2006, Drs. Puffenberger, Strauss, and Morton have co-taught a capstone course in biology at the college called, "Plain People & Modern Medicine." The Clinic is also integrally involved in F&M's second Howard Hughes Medical Institute grant (HHMI), which helps to fund
- [The Summer Newsletter is Here](https://clinicforspecialchildren.org/summernewsletter/) - Hot off the presses, it's our summer newsletter! If you didn't receive a copy via snail mail, you can download the PDF here. We have included 25th Anniversary highlights, personal stories from our research fellows, a welcome to our new pediatrician, and many other great updates on research and collaborative efforts. The newsletter has kept our
- [A New Voice in the Front Office](https://clinicforspecialchildren.org/new-voice-front-office/) - We are pleased to introduce Yalonda Kosek as the Clinic's new Medical Receptionist. Yalonda started this April and brings over 5 years of experience to the Clinic's front office. You will hear her friendly voice whenever you call the Clinic, and she'll be happy to help with scheduling a visit or connecting you to the
- [We're Hiring!](https://clinicforspecialchildren.org/hiring/) - Calling all Genetic Counselors & Laboratory Technicians! Please see the details below, and send a cover letter and resume to Adam Heaps: aheaps@clinicforspecialchildren.org. Position: Part-time Genetic Counselor / Project Coordinator. The position is part-time (3 days a week), Monday – Friday, 9:00 AM to 5:00 PM. The Clinic for Special Children is a non-profit
- [Please Welcome our 2015 Avery Fellow, Aarti Rao!](https://clinicforspecialchildren.org/2015averyfellow/) - We're happy to announce our 3rd Avery Fellow, Aarti Rao! Aarti comes to the Clinic from Swarthmore College with a Bachelor's of Arts in Honors Sociology, Anthropology, and Biology. We were impressed by Aarti's public health research within fifteen villages of Chura, Rajastan, a desert region in northern India. Aarti assessed the utilization of maternal and newborn health
- [The Clinic's Celebration Garden Grows!](https://clinicforspecialchildren.org/celebrationgarden/) - It is often said that the Plain people of Lancaster County have something very important to teach us about community. We are fortunate at the Clinic for Special Children to be reminded of this each time a family comes to our office seeking care for a special child. It starts with our building, which was
- [CSC Participates in the 2014 Designathon with PCAD](https://clinicforspecialchildren.org/designathon/) - The Clinic is participating in the 2014 Designathon with the Pennsylvania College of Art & Design! For 24 hours starting this Friday, February 21st, students will work through the night to help the Clinic with several graphic and web design projects. We're grateful for the opportunity to work with PCAD and look forward to sharing
- [An English Girl's Rumspringa - New Blog at CSC](https://clinicforspecialchildren.org/english-girls-rumspringa-new-blog-csc/) - Last summer, we were delighted to host Elizabeth Gura Gavin at the Clinic. A rising senior in high school, Elizabeth set out to write a personal account of the Clinic that would capture our work and mission for a younger readership. We're excited to share her blog with you, and we think readers of all
- [A special doctor at a special clinic](https://clinicforspecialchildren.org/special-doctor-special-clinic/) - Dr. Williams was featured on the front page Lancaster Newspapers' Sunday edition! The article expresses our excitement for Dr. Williams' arrival and the steady development achieved as we begin our 25th year. Read more here: http://lancasteronline.com/news/local/a-new-doctor-is-in-at-clinic-for-special-children/article_fc1776d8-a62f-11e3-a40e-001a4bcf6878.html
- [Avery Fellowship - Applications due by Feb 28th](https://clinicforspecialchildren.org/avery-fellowship-applications-due-feb-28th/) - Don't miss the opportunity to apply for the 2014-2015 Mary Ellen Avery Fellowship for the advancement of clinician-scientists! Applications are due by February 28th. To download the application or for more information, please visit our research page: https://clinicforspecialchildren.org/research.
- [CSC Featured in Caring Voice Coalition](https://clinicforspecialchildren.org/csc-featured-caring-voice-coalition/) - Dr. Strauss was interviewed by the Caring Voice Coalition, a nonprofit dedicated to the unmet needs among the orphan disease population. Their winter issue focuses on the growing importance of genetic medicine and its growing role in family medicine. Read more here: http://www.caringvoice.org/2013/12/family-medicine Special thanks to Eva Leonard for her excellent coverage!
- [An Exciting Addition to our Team!](https://clinicforspecialchildren.org/exciting-addition-team/) - We're eager to announce that Dr. Katie B. Williams has joined the clinical team at CSC as our third pediatrician! Dr. Williams finished her medical degree and PhD in nutrition at the University of Wisconsin-Madison and has moved to Strasburg with her husband and two small boys. Be sure to welcome Dr. Williams on your
- [CSC Welcomes two Research Fellows for 2013-2014](https://clinicforspecialchildren.org/two-brilliant-students-join-csc-2013-2014/) - We're very happy to welcome Abby Benkert and Joshua Wesalo to the CSC team, both 2013 graduates of Franklin & Marshall College. Abby and Josh are exceptional young scientists and will spend one year working on independent research. Abby Benkert is the 2013-2014 Avery Fellow. She honed her talents working in the lab of Dr. Robert
- [Please Welcome Millie Young to our Clinical Staff!](https://clinicforspecialchildren.org/please-welcome-millie-young-clinical-staff/) - We're excited to announce Millie Young, RN as the newest addition to our talented clinical staff! Millie joins CSC after many years on Lancaster General Hospital's pediatric floor, and she is very familiar with the communities we serve. Not only is Millie a talented nurse, she brings a depth of knowledge and experience to our
- [We're featured on WNYC, FM New York!](https://clinicforspecialchildren.org/featured-wnyc-fm-new-york/) - Two months ago, Dr. Strauss and Rebecca Smoker were interviewed by WNYC radio, one of the largest NPR affiliates in the country. We're grateful to their team of reporters from "New Tech City" for exceptional coverage of our work! During a time of great strife over healthcare, we are very glad to present a story
- [Thank You for an Amazing Auction Season!](https://clinicforspecialchildren.org/auction-season-thank-you/) - Five auctions, spread throughout Pennsylvania and Ohio, each one exceeding our expectations! We cannot thank the Plain Communities enough for their generous support and to all our friends who traveled great distances to celebrate the Clinic's mission. The auctions represent one third of the Clinic's operating budget, a crucial component to our success, but it
- [Genomics Conference Highlights](https://clinicforspecialchildren.org/genomics-conference-highlights/) - Genomic Medicine and the Plain Populations of North America Lancaster, Pa. – July 17 - 18, 2013- In collaboration with Franklin & Marshall College and the Howard Hughes Medical Institute, the Clinic for Special Children hosted a two-day conference on Genomic Medicine and the Plain Populations of North America. In its 24 year history, the
- [Liver Transplant Day with CHP!](https://clinicforspecialchildren.org/transplant-day/) - Drs. Mazariegos, Soltys, and Venkat from Children's Hospital of Pittsburgh spent the day at CSC, providing check-ups for many MSUD and Crigler-Najjar liver transplant patients. What a great day of fellowship for our patients, staff, and collaborators! Special thanks to Dr. George Mazariegos and his team for the wonderful care our patients receive. The Clinic
- [One community's effort to control genetic disease](https://clinicforspecialchildren.org/one-communitys-effort-to-control-genetic-disease/) - A field action report published by the Clinic in the American Journal of Public Health (AJPH) Drs. Strauss, Puffenberger, and Morton were recently published in the American Journal of Public Health, outlining the Clinic's unique model of care and the financial outcomes for the communities we serve. Dr. Strauss surmises, "Systems of medical care that
- [From bedside to bench and back again](https://clinicforspecialchildren.org/from-bedside-to-bench-and-back-again/) - In collaboration with Dr. Peter Crino of the University of Pennsylvania and graduate students like Whitney Parker, the Clinic continues to make progress on devastating diseases like Pretzel Syndrome. Below, Whitney highlights her unique research experience, a great example of moving from the clinical bedside to the laboratory bench. We all hope that these collaborative
- [2012 Summer Students at CSC](https://clinicforspecialchildren.org/2012-summer-students-at-csc/) - As part of our ongoing effort to train future scientists and clinicians, the Clinic is hosting a full house of summer students! From Dr. Puffenberger: "We are grateful to have so many talented, young minds at the Clinic this summer, and we all feel that the investment in such talent is vital to our mission

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- [Translational Medicine](https://clinicforspecialchildren.org/what-we-do/translational-medicine/) - Text in this field does not appear on page.
- [Press Room](https://clinicforspecialchildren.org/news/press-room/) - Welcome to the Clinic for Special Children press room! Stay informed on the latest news and press releases related to the Clinic and access information, downloads, and contact information.
- [Thank you for registering for our 2025 Midwives Conference!](https://clinicforspecialchildren.org/thank-you-for-registering-for-our-2025-midwives-conference/) - We look forwarding to seeing you (or hosting you virtually) on Wednesday, May 7th at the Clinic for Special Children for our 2025 Midwives Conference. You should receive an email shortly with your registration confirmation. If you have any questions before the conference, please contact Kelly Woodson, Event Manager, at 717-687-9407 or rsvp@clinicforspecialchildren.org. Thank you!
- [Store](https://clinicforspecialchildren.org/contact/store/)
- [Thank You](https://clinicforspecialchildren.org/thank-you/) - Your gift to the Clinic for Special Children is an investment in the health of the Plain community and people around the world facing rare genetic diseases – now and in the future. We will be sending you a gift acknowledgment letter in the mail shortly. Generous supporters like you help us to provide care
- [CSC 5k](https://clinicforspecialchildren.org/events/5k/)
- [A New Building for the Clinic for Special Children](https://clinicforspecialchildren.org/campaign/)
- [News](https://clinicforspecialchildren.org/news/) - Maecenas sed diam eget risus varius blandit sit amet non magna. Cras mattis consectetur purus sit amet fermentum. Nullam quis risus eget urna mollis ornare vel eu leo. Aenean eu leo quam. Pellentesque ornare sem lacinia quam venenatis vestibulum. Lorem ipsum dolor sit amet, consectetur adipiscing elit. Donec ullamcorper nulla non metus auctor fringilla.
- [Thank You for Supporting the Campaign](https://clinicforspecialchildren.org/make-a-donation/thank-you/) - Your gift to the Clinic’s Keeping the Promise: Building Hope capital campaign is an investment in the health of the Plain community and people around the world facing rare genetic disease – now and in the future. We will be sending you a gift acknowledgement letter in the mail shortly. Thank you for your support
- [Make a Donation](https://clinicforspecialchildren.org/make-a-donation/) - Text in this field does not appear on page.
- [Events](https://clinicforspecialchildren.org/events/)

## Staff

- [Brenda Yachasz, MSN, RN, CBC](https://clinicforspecialchildren.org/staff/brenda-yachasz-msn-rn-cbc/) - Brenda joined the Clinic for Special Children in 2026 as a Nurse. In this role, Brenda will room and assess patients, perform EHR documentation, phlebotomy, telephone triage, and care coordination. Before joining the Clinic, Brenda worked as a Postpartum Nurse at UPMC and also worked on the pediatric unit. Brenda has four adult children and
- [Justin Hersh](https://clinicforspecialchildren.org/staff/10078/) - Justin joined the Clinic for Special Children in 2026 as a Research Associate. As the Research Associate, he will be supporting many of CSC’s research endeavors. These projects will provide insights into rare genetic conditions, and he will be involved with prospective natural history studies, clinical trials of gene replacement therapies, and the analysis of
- [Erin Sweigert](https://clinicforspecialchildren.org/staff/erin-sweigert/) - Erin joined the Clinic for Special Children in 2023 as a Research Associate, and in 2026, joined our Nursing team as a Medical Assistant while she pursues her education in nursing. As a Medical Assistant, Erin will assist in providing day-to-day clinical and administrative services, including rooming patients, phlebotomy, cleaning and preparing exam rooms, answering
- [Jessica Townsend, LPN](https://clinicforspecialchildren.org/staff/jessica-townsend-lpn/) - Jessica joined the Clinic for Special Children in 2026 as a Licensed Practical Nurse. In this role, Jess will assist in providing day-to-day clinical and administrative services, including rooming patients, phlebotomy, cleaning and preparing exam rooms, answering phone calls, and scheduling appointments. Before joining the Clinic, Jessica worked as a Licensed Practical Nurse and in
- [Samuel Miller, MS, CGC](https://clinicforspecialchildren.org/staff/samuel-miller-ms-cgc/) - Samuel joined the Clinic for Special Children in 2026 as a Genetic Counselor. In this role, he will assist in new patient triage and intake, provide genetic counseling services, and manage the logistics of the molecular diagnostics service. Samuel will also assist physicians with genetic testing decisions and patient evaluations. He brings experience in genetic
- [Jessica Snyder, PHR, SHRM-CP](https://clinicforspecialchildren.org/staff/jessica-snyder/) - Jessica Snyder joined the Clinic for Special Children as its first part-time Human Resources Generalist in 2023, and in December 2025, began the role of full-time Human Resources Manager. As the Human Resources Manager, Jessica coordinates all human resources (HR) functions of the Clinic. She manages recruitment, onboarding, and training, performance review, implementing and enforcing
- [Donna L. Robinson, MSN, CRNP](https://clinicforspecialchildren.org/staff/donna-l-robinson-crnp/) - Donna L. Robinson, MSN, CRNP, PPCNP-BC, earned her BSN from Eastern Mennonite University in 1984 and her MSN/CRNP certificate from the University of Pennsylvania in 1995 in pediatric critical care. She earned her certification as a Primary Care Pediatric Nurse Practitioner from the American Nurses Credentialing Center in 1995. She worked as a staff/charge nurse
- [Christine Hendrickson, RN, BSN, PED-BC](https://clinicforspecialchildren.org/staff/christine-hendrickson-rnc/) - Christine joined the Clinic for Special Children in 2002 after working with many of the patients at Lancaster General Hospital. Christine holds an associate’s degree in nursing from Delaware Technical and Community College and is certified in pediatrics. In 2024, she graduated from Chamberlain University with her Bachelor of Science degree in Nursing. Christine is
- [Candace Kendig, RMA](https://clinicforspecialchildren.org/staff/candace-kendig/) - Candace joined CSC as a Medical Receptionist in 2017 and was promoted to Practice Manager in 2020. She earned her Bachelor's Degree in Healthcare Management at Central Penn College in 2021 and also earned her Registered Medical Assistant (RMA) certification in 2021. She also earned her Associates Degree in Specialized Technology, majoring in Medical Assisting
- [Julia A. Goroff, DO](https://clinicforspecialchildren.org/staff/julia-a-goroff-do/) - Dr. Julia A. Goroff, a Pediatrician, joined the Clinic for Special Children in July 2024. During her residency, she spent time at the Clinic and shared the Clinic's values in the advancement of health care for children and research. As a Pediatrician, Dr. Goroff works as a member of our clinical team to evaluate, diagnose,
- [Jennifer Giacoio, CMAA](https://clinicforspecialchildren.org/staff/jennifer-giacoio/) - Jennifer joined the Clinic in 2020 as a Medical Receptionist and was promoted to the Clinic's first Patient Navigator in 2025. As the Clinic's Patient Navigator, Jennifer provides administrative support for the Clinic's staff, patients, and visitors. She assists in complex appointment scheduling, provides resources for social, financial, and legal support, and actively looks for
- [Dawn Sheets, GCA, CMAA](https://clinicforspecialchildren.org/staff/dawn-sheets/) - Dawn joined the Clinic in 2020 as a Medical Receptionist and was promoted to the Clinic's first Genetic Counseling Assistant in 2025. In 2024, Dawn became a Certified Medical Administrative Assistant and also obtained her Genetic Counseling Assistant certificate from Johns Hopkins School of Medicine. As the Clinic's Genetic Counseling Assistant, Dawn supports the clinical
- [Peggy Riehl](https://clinicforspecialchildren.org/staff/peggy-riehl/) - Peggy joined CSC as a Medical Receptionist in 2024. As the Clinic's Medical Receptionist, Peggy is responsible for providing administrative support for staff, patients, and visitors. She also provides a warm and welcoming environment to patient families and visitors of the Clinic. Prior to working at CSC, she worked in customer service in healthcare for
- [Kimberly Broadbent](https://clinicforspecialchildren.org/staff/kimberly-broadbent/) - Kim joined the Clinic for Special Children in 2024 as our first Accounts Payable Clerk. In this role, Kim supports the Clinic's financial operations and helps with managing transactions such as bank deposits and accounts payable. Prior to joining the Clinic, Kim worked in healthcare for years, including as a surgical technologist, administrative assistant, and
- [Cara Forry](https://clinicforspecialchildren.org/staff/cara-forry/) - Cara joined the Clinic for Special Children in 2024 as a Laboratory Scientist I. In this role, she is responsible for running several clinical assays including amino acid quantification by HPLC and DNA isolation from whole blood. Cara also performs targeted mutation detection through Sanger sequencing and high-resolution melting curve analysis. Before joining the Clinic,
- [Renny Magill, CFRE](https://clinicforspecialchildren.org/staff/renny-magill-cfre/) - Renny joined the Clinic for Special Children in 2024 as the Development Director. In this role, he is responsible for connecting generous individuals, companies, and foundations with meaningful giving opportunities that support the Clinic’s mission. He is also a member of the Clinic’s leadership team, helping to develop and implement the organization’s mission-driven strategic goals
- [Kelly Cullen](https://clinicforspecialchildren.org/staff/kelly-cullen/) - Kelly joined the Clinic for Special Children in 2018 as the Marketing and Communications Manager. In this role, Kelly manages the Clinic's communications and marketing through public relations, community outreach, social media, advertising, and supporting the development team's fundraising efforts. Prior to joining the Clinic, Kelly was the Global Creative Brand Manager for a baby
- [Keturah Beiler, BSN, RN, CHPPN](https://clinicforspecialchildren.org/staff/keturah-beiler-rn/) - Keturah joined the Clinic for Special Children in 2017. As the Cherished Lives Program Manager, she is passionate about our palliative care program, Cherished Lives, for children or adults who have life-limiting or terminal diagnoses and leads the effort to bring home individualized care for these patients. She has led the implementation and planning of
- [Skye Gawn](https://clinicforspecialchildren.org/staff/skye-gawn/) - Skye joined the Clinic for Special Children in August 2021. As a Development Associate, Skye works with the Development Director and development team to execute the strategic goals and objectives for the Clinic's fundraising program, focusing specifically on donor and institutional data management. She champions all aspects of the donor database, leverages technology throughout the
- [Laura Poskitt, DO](https://clinicforspecialchildren.org/staff/laura-poskitt-do/) - Dr. Laura Poskitt, a board-certified Pediatrician, joined the Clinic for Special Children in July 2019. She was promoted as the Clinic's Medical Director in 2024. Her training as a DO (Doctor of Osteopathy) makes her passionate about healing the whole person, focusing on specific medical needs, but also exploring the social, mental, and emotional aspects
- [Susan Walther, MS, CGC](https://clinicforspecialchildren.org/staff/susan-walther-ms-cgc/) - Susan joined the Clinic for Special Children in 2022 as a Genetic Counselor. In this role, she will assist in new patient triage and intake, provide genetic counseling services, and manage logistics of the molecular diagnostics service. As a member of the clinical team, Susan will also assist physicians with genetic testing decisions and the
- [Amy Albright, MS, CGC](https://clinicforspecialchildren.org/staff/amy-albright-ms/) - Amy joined the Clinic for Special Children in 2021 as a Genetic Counselor. In this role, she will assist in new patient triage and intake, provide genetic counseling services, and manage logistics of the molecular diagnostics service. Before joining the Clinic staff full-time, Amy interned at the Clinic in her second year of graduate school.
- [Karlla W. Brigatti, MS, CGC](https://clinicforspecialchildren.org/staff/karlla-brigatti/) - Karlla W. Brigatti, MS, CGC, joined the Clinic for Special Children as its first genetic counselor in 2014, bringing extensive experience in clinical genetics and research from across the lifespan. In 2018, she was promoted to Research Operations Director and in 2024 she was promoted to Research Director. As the Research Director, Karlla is responsible
- [Adam D. Heaps, MS, MBA](https://clinicforspecialchildren.org/staff/adam-d-heaps/) - Adam has been the Executive Director of the Clinic since 2014. He originally joined the Clinic in 2010 as a Laboratory Technician. In 2012, he was promoted to Laboratory Scientist and in 2014 he was appointed Administrative Director. As Executive Director, Adam is the chief executive of the organization and is responsible for all aspects
- [Vincent J. Carson, MD](https://clinicforspecialchildren.org/staff/vince-carson-md/) - Dr. Vincent Carson earned a Bachelor of Science degree in Biochemistry and Molecular Biology from Penn State University in 2004 and a Medical Degree from Drexel University in 2011. He completed his pediatric and child neurology training at the Children’s Hospital of Pittsburgh. He has affiliations with the American Academy of Neurology and the Child
- [Kelly Woodson](https://clinicforspecialchildren.org/staff/kelly-milligan/) - Kelly joined the Clinic for Special Children in June 2022 as the organization's first Event Manager. As the Event Manager, Kelly works in the Administrative team with a focus on building and stewarding an organization-wide volunteer program and serving as the primary manager of CSC-sponsored events. While she's primarily responsible for all aspects of fundraising
- [Bill Van Ess, MS, CFE](https://clinicforspecialchildren.org/staff/bill-van-ess-ms-cfe/) - Bill joined the Clinic for Special Children in April 2019 as an Accountant and was promoted to Accounting Manager in October 2020. In his role, Bill manages invoicing, bank reconciliations, maintaining the general ledger, and all facets of accounting for the organization. Bill earned his bachelor's degree in Accounting from Albright College in Reading, PA
- [Alanna Koehler, PhD](https://clinicforspecialchildren.org/staff/alanna-koehler-phd/) - Alanna Koehler, PhD, joined the Clinic for Special Children as its first Assistant Laboratory Director in 2022, bringing extensive training in biomedical sciences and genetics. As the Assistant Laboratory Director, Dr. Koehler is responsible for assisting the Laboratory Director, Dr. Erik Puffenberger, in managing the biochemical and genetics laboratory at the Clinic. Dr. Koehler works
- [Sean Schreckengast](https://clinicforspecialchildren.org/staff/sean-schreckengast/) - Sean joined the Clinic for Special Children in 2024 as a Laboratory Scientist I. He is responsible for running several clinical assays including amino acid quantification by HPLC and DNA isolation from whole blood. He also performs targeted mutation detection through Sanger sequencing and high resolution melting curve analysis. Before joining the Clinic, he worked
- [KaLynn Loeven](https://clinicforspecialchildren.org/staff/kalynn-loeven/) - KaLynn joined the Clinic for Special Children in 2017 as a Laboratory Technician and in 2019 she was promoted to a Laboratory Scientist II. She is responsible for performing genetic research through microarrays and development of new testing assays. KaLynn earned both a Bachelor of Science degree in chemistry in 2009 and a Bachelor of
- [Erik G. Puffenberger, PhD](https://clinicforspecialchildren.org/staff/erik-g-puffenburger-phd/) - Dr. Puffenberger received a B.A. in biology from Swarthmore College in 1987, and a Ph.D. in human genetics from Case Western Reserve University in 1996. He worked as an editorial assistant for Dr. Victor McKusick’s Mendelian Inheritance in Man (1987-1991), as a senior laboratory techician for Dr. Clair Francomano (1988-1991), and received his Ph.D. under the
- [Ashlin Rodrigues, MS](https://clinicforspecialchildren.org/staff/ashlin-rodrigues/) - Ashlin joined the Clinic for Special Children in 2017 as a Laboratory Technician and was promoted to Laboratory Scientist in 2019. In 2024, she moved to a newly created role in our research team as a Clinical Research Analyst. She is actively involved in all facets of research protocols and plays a vital role in
- [Joelle Williamson Clark, MPH](https://clinicforspecialchildren.org/staff/joelle-williamson-clark-mph/) - Joelle Williamson Clark, MPH, joined the Clinic for Special Children in June 2023 as the Clinical Research Manager. As the Clinical Research Manager, Joelle is responsible for leading a variety of tasks within research including regulatory submissions and compliance, and study coordination. Joelle also aids in the communication and outreach with patients and families involved
- [Sarah Thomas, RMA](https://clinicforspecialchildren.org/staff/sarah-thomas-rma/) - Sarah joined the Clinic for Special Children in 2023 as a Medical Assistant. In this role, Sarah will assist in providing day-to-day clinical and administrative services including rooming patients, phlebotomy, cleaning and preparing exam rooms, answering phone calls, and scheduling appointments. Prior to joining the Clinic, Sarah worked as a Medical Assistant in family medicine
- [Julia Martin](https://clinicforspecialchildren.org/staff/julia-martin/) - Julia Martin is the mother of a child living with Maple Syrup Urine Disease (MSUD), cared for by the Clinic for Special Children. Over the past year, Julia and her husband, Daryl have been instrumental in helping to establish CSC’s Patient Family Advisory Council (PFAC). In collaboration with the PFAC families, Julia helped to coordinate
- [Grace L. Meier, MD](https://clinicforspecialchildren.org/staff/grace-meier-md/) - Dr. Grace Meier, a Family Medicine Physician, joined the Clinic for Special Children in August 2020. Her training in Family Practice allows her to see patients of any age; making her an ideal addition to our staff. Dr. Meier will lead efforts in formalizing an adult services program at the Clinic. Dr. Meier earned a

## News Articles

- [Top Physicians Under 40](https://clinicforspecialchildren.org/national_news/4795/)
- [Researchers Identify Ultra-Rare Genetic Disorder in Amish Communities](https://clinicforspecialchildren.org/national_news/researchers-identify-ultra-rare-genetic-disorder-in-amish-communities/)
- [An Amish patient came to CHOP with brain swelling. It turns out she had an ultra-rare genetic disorder more common in her community](https://clinicforspecialchildren.org/national_news/an-amish-patient-came-to-chop-with-brain-swelling-it-turns-out-she-had-an-ultra-rare-genetic-disorder-more-common-in-her-community/)
- [Clinic Meets Goal Early in SMA Carrier Screening Among Amish, Mennonites](https://clinicforspecialchildren.org/national_news/clinic-meets-goal-early-in-sma-carrier-screening-among-amish-mennonites/)
- [Rural Pennsylvania Clinic Treats Amish, Mennonite Children Who Have SMA](https://clinicforspecialchildren.org/national_news/rural-pennsylvania-clinic-treats-amish-mennonite-children-who-have-sma/)
- [Saving Grace: Amish Families are working with doctors and researchers to save a young girl's life](https://clinicforspecialchildren.org/national_news/saving-grace-amish-families-are-working-with-doctors-and-researchers-to-save-a-young-girls-life/)
- [This is why doctors consider precision medicine to be the future of healthcare](https://clinicforspecialchildren.org/national_news/this-is-why-doctors-consider-precision-medicine-to-be-the-future-of-healthcare/)
- [Anything but plain](https://clinicforspecialchildren.org/national_news/anything-plain/)
- [Clinic a lifeline to children](https://clinicforspecialchildren.org/national_news/clinic-a-lifeline-to-children/)
- [At gene therapy's frontier, the Amish build a clinic](https://clinicforspecialchildren.org/national_news/at-gene-therapys-frontier-the-amish-build-a-clinic/)
- [Plain people, exotic illnesses](https://clinicforspecialchildren.org/national_news/plain-people-exotic-illnesses/)
- [Blue light aids ill Mennonite children](https://clinicforspecialchildren.org/national_news/blue-light-aids-ill-mennonite-children/)
- [How Nemours took care of Mexican Mennonite teen who speaks only a 'dead language'](https://clinicforspecialchildren.org/national_news/how-nemours-took-care-of-mexican-mennonite-teen-who-speaks-only-a-dead-language/)
- [Country doctor: how a physician solved riddle of rare disease in children of Amish](https://clinicforspecialchildren.org/national_news/country-doctor-how-a-physician-solved-riddle-of-rare-disease-in-children-of-amish/)
- [Amish and Mennonite families spend a Saturday raising a clinic](https://clinicforspecialchildren.org/national_news/amish-and-mennonite-families-spend-a-saturday-raising-a-clinic/)
- [Hopkins doctor fights genetic disorders in Amish country 'How good it is that he's here'](https://clinicforspecialchildren.org/national_news/hopkins-doctor-fights-genetic-disorders-in-amish-country-how-good-it-is-that-hes-here/)
- [A Doctor for the Future](https://clinicforspecialchildren.org/national_news/a-doctor-for-the-future/)
- [As U.S. struggles with health reform, the Amish go their own way](https://clinicforspecialchildren.org/national_news/u-s-struggles-health-reform-amish-go-way/)
- [Pennsylvania clinic treats genetic disorders in Amish and Mennonite people](https://clinicforspecialchildren.org/national_news/pennsylvania-clinic-treats-genetic-disorders-amish-mennonite-people/)

## Magazine Feature Stories

- [35th Annual Auction Benefits Children With Rare Conditions](https://clinicforspecialchildren.org/magazine_features/35th-annual-auction-benefits-children-with-rare-conditions/)
- [Leola Auction to Support Clinic for Special Children Slated for June 21](https://clinicforspecialchildren.org/magazine_features/leola-auction-to-support-clinic-for-special-children-slated-for-june-21/)
- [Saving Gracie: Annual Auction Raises Funds for Children with Special Needs](https://clinicforspecialchildren.org/magazine_features/saving-gracie-annual-auction-raises-funds-for-children-with-special-needs/)
- [East Cocalico Township boy with new liver 'relieved' to be home on Christmas after transplant](https://clinicforspecialchildren.org/magazine_features/east-cocalico-township-boy-with-new-liver-relieved-to-be-home-on-christmas-after-transplant/)
- [Clinic for Special Children unveils designs for a bigger, new center in Leacock Township](https://clinicforspecialchildren.org/magazine_features/7785/)
- [Girl receives treatment from special clinic](https://clinicforspecialchildren.org/magazine_features/girl-receives-treatment-from-special-clinic/)
- [Clinic for Special Children to hold benefit auction](https://clinicforspecialchildren.org/magazine_features/clinic-for-special-children-to-hold-benefit-auction/)
- [Putting the community and its values first](https://clinicforspecialchildren.org/magazine_features/putting-the-community-and-its-values-first/)
- [Innovation and Impact at the Clinic for Special Children](https://clinicforspecialchildren.org/magazine_features/innovation-and-impact-at-the-clinic-for-special-children/)
- [A Pioneering Approach to Healing](https://clinicforspecialchildren.org/magazine_features/a-pioneering-approach-to-healing/)
- [Mask makers serving the community](https://clinicforspecialchildren.org/magazine_features/mask-makers-serving-the-community/)
- [Lancaster County clinic expands at-home services for pediatric patients in Plain communities](https://clinicforspecialchildren.org/magazine_features/lancaster-county-clinic-expands-at-home-services-for-pediatric-patients-in-plain-communities/)
- [A special place: Strasburg's Clinic for Special Children celebrates 30 years of pioneering work on treating genetic mutations](https://clinicforspecialchildren.org/magazine_features/a-special-place-strasburgs-clinic-for-special-children-celebrates-30-years-of-pioneering-work-on-treating-genetic-mutations/)
- [Why I Volunteer](https://clinicforspecialchildren.org/magazine_features/why-i-volunteer/)
- [Strasburg nonprofit treating rare diseases in Plain sect people sees promise in new DNA testing method](https://clinicforspecialchildren.org/magazine_features/strasburg-nonprofit-treating-rare-diseases-in-plain-sect-people-sees-promise-in-new-dna-testing-method/)
- [A Doctor Who Makes Barn Calls](https://clinicforspecialchildren.org/magazine_features/a-doctor-whos-brought-hope-to-the-plain-people-of-lancaster-pennsylvania/)
- [Can Gene Therapy Cure This Child?](https://clinicforspecialchildren.org/magazine_features/can-gene-therapy-cure-this-child/)
- [Medical Sleuth](https://clinicforspecialchildren.org/magazine_features/medical-sleuth/)
- [Field of Genes](https://clinicforspecialchildren.org/magazine_features/field-of-genes/)
- [Teaching Genomics, Plainly](https://clinicforspecialchildren.org/magazine_features/teaching-genomics-plainly/)
- [25 Years of Personalized, Genomic Medicine in Lancaster County](https://clinicforspecialchildren.org/magazine_features/25-years-personalized-genomic-medicine-lancaster-county/)
- [Genomics, Plain and Simple](https://clinicforspecialchildren.org/magazine_features/genomics-plain-and-simple/)
- [At the Cross Roads](https://clinicforspecialchildren.org/magazine_features/cross-roads/)
- [25 Years of Saving Childrens' Lives](https://clinicforspecialchildren.org/magazine_features/25-years-saving-childrens-lives/)
- [Tracking a killer](https://clinicforspecialchildren.org/magazine_features/tracking-a-killer/)
- [The Doctor Who Conquered a Killer](https://clinicforspecialchildren.org/magazine_features/the-doctor-who-conquered-a-killer/)
- [Keeping the Faith](https://clinicforspecialchildren.org/magazine_features/keeping-the-faith/)
- [Secrets of the gene](https://clinicforspecialchildren.org/magazine_features/secrets-of-the-gene/)

## Research

- [Systemic dual-gene therapy reverses biochemical intoxication in the central metabolic compartment of Bckdha−/− mice](https://clinicforspecialchildren.org/research/systemic-dual-gene-therapy-reverses-biochemical-intoxication-in-the-central-metabolic-compartment-of-bckdha−-−-mice/) - Branched-chain 2-ketoacid dehydrogenase (BCKDH) deficiency (maple syrup urine disease; MSUD) causes lethal encephalopathy by disrupting cerebral metabolism, a process imperfectly reflected by circulating biomarkers. Diet and liver transplantation stabilize peripheral metabolites but fail to restore brain neurochemistry, demarcating the central nervous system as the decisive therapeutic compartment. To define the pathogenesis of intoxication and its
- [Trial-ready external controls for gene therapy: The MATCH cohort in maple syrup urine disease](https://clinicforspecialchildren.org/research/trial-ready-external-controls-for-gene-therapy-the-match-cohort-in-maple-syrup-urine-disease/) - Maple syrup urine disease (MSUD) is a life-threatening metabolic disorder for which randomized trials are infeasible. We present the MSUD Age-matched Standard Treatment Cohort (MATCH), a prospective natural history study of 11 infants with classic MSUD followed from neonatal diagnosis to liver transplantation. Aligned with Food and Drug Administration (FDA) guidance and International Council for
- [Antenatal diagnosis and maternal sirolimus treatment of polyhydramnios, megalencephaly, and symptomatic epilepsy (PMSE) syndrome](https://clinicforspecialchildren.org/research/antenatal-diagnosis-and-maternal-sirolimus-treatment-of-polyhydramnios-megalencephaly-and-symptomatic-epilepsy-pmse-syndrome/) - Polyhydramnios, megalencephaly, and symptomatic epilepsy (PMSE) syndrome is a rare autosomal recessive mTORopathy caused by biallelic STE20-related kinase adaptor alpha (STRADA) loss-of-function variants. Animal models demonstrate that in utero mechanistic target of rapamycin (mTOR) inhibition can prevent cortical dyslamination, suggesting a prenatal therapeutic window.
- [Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking](https://clinicforspecialchildren.org/research/bi-allelic-loss-of-function-variants-in-jkamp-cause-a-neurodevelopmental-syndrome-associated-with-dysregulation-of-gpr37-trafficking/) - The endoplasmic reticulum (ER) serves as a key hub for protein homeostasis, maintaining a strict quality-control system that ensures only properly folded proteins reach their destinations, while misfolded proteins are degraded via ER-associated degradation (ERAD) or selective ER-phagy. JKAMP, which encodes an ER-resident transmembrane protein involved in ERAD, has not previously been associated with human
- [Metformin therapy to facilitate weight loss in adults with classic maple syrup urine disease](https://clinicforspecialchildren.org/research/metformin-therapy-to-facilitate-weight-loss-in-adults-with-classic-maple-syrup-urine-disease/) - Surplus calories are used to prevent protein catabolism in patients with maple syrup urine disease (MSUD) but can also lead to obesity and its related complications. At present, there are no evidence-based guidelines to inform weight loss strategies for patients with inborn errors of metabolism. Obese MSUD patients often resist weight loss due to the
- [Urine Sorbitol and Xylitol for the Diagnosis of Sorbitol Dehydrogenase Deficiency–Related Neuropathy](https://clinicforspecialchildren.org/research/urine-sorbitol-and-xylitol-for-the-diagnosis-of-sorbitol-dehydrogenase-deficiency-related-neuropathy/) - Sorbitol dehydrogenase (SORD) deficiency, due to biallelic loss-of-function variants in the SORD gene, is a recently recognized cause of autosomal recessive hereditary neuropathy. Specific diagnosis is difficult on clinical grounds alone, and molecular genetic testing of SORD is complicated by the presence of a pseudogene. Biochemical testing of serum sorbitol is suggested as a potential biomarker. We report a
- [Characterization of a PNLIP Variant Identified in Amish Pediatric Patients with Congenital Pancreatic Lipase Deficiency](https://clinicforspecialchildren.org/research/characterization-of-a-pnlip-variant-identified-in-amish-pediatric-patients-with-congenital-pancreatic-lipase-deficiency/) - Congenital pancreatic lipase deficiency (CPLD, OMIM #614338) is a rare exocrine pancreatic disorder presenting in late infancy with steatorrhea, fat-soluble vitamin deficiency, and low pancreatic lipase activity. Variants of the pancreatic triglyceride lipase (PNLIP) gene have been linked to CPLD. Six children from four Amish families exhibited CPLD symptoms and two had decreased fecal elastase
- [Exonic Variation and Its Clinical Impact in 7221 Old Order Amish](https://clinicforspecialchildren.org/research/exonic-variation-and-its-clinical-impact-in-7221-old-order-amish/) - The Amish of Lancaster County, PA has been the focus of genetic studies for many years due to its demographic history and unique genetic makeup that includes a historical bottleneck event and subsequent genetic drift, resulting in a marked decrease in genetic diversity and increased frequency of some variants that have substantially shaped the health
- [Complement Factor I Deficiency-Associated Neuroinflammatory Disease Among Old Order Amish](https://clinicforspecialchildren.org/research/complement-factor-i-deficiency-associated-neuroinflammatory-disease-among-old-order-amish/) - Complement factor I (CFI) deficiency is an ultra-rare inborn disorder of complement regulation that manifests with protean infectious, vasculitic, and neuroinflammatory symptoms. To functionally validate a previously unrecognized, disease-associated CFI variant (Y459S) and determine variant enrichment in the Old Order Amish population.
- [Immunopathological and microbial signatures of inflammatory bowel disease in partial RAG deficiency](https://clinicforspecialchildren.org/research/immunopathological-and-microbial-signatures-of-inflammatory-bowel-disease-in-partial-rag-deficiency/) - Partial RAG deficiency (pRD) can manifest with systemic and tissue-specific immune dysregulation, with inflammatory bowel disease (IBD) in 15% of the patients. We aimed at identifying the immunopathological and microbial signatures associated with IBD in patients with pRD and in a mouse model of pRD (Rag1w/w) with spontaneous development of colitis. pRD patients with IBD
- [A rare variant in GPR156 associated with depression in a Mennonite pedigree causes habenula hyperactivity and stress sensitivity in mice](https://clinicforspecialchildren.org/research/a-rare-variant-in-gpr156-associated-with-depression-in-a-mennonite-pedigree-causes-habenula-hyperactivity-and-stress-sensitivity-in-mice/) - Major depressive disorder (MDD) is a leading cause of disability worldwide. Risk for MDD is heritable, and the genetic structure of founder populations enables investigation of rare susceptibility alleles with large effect. In an extended Old Order Mennonite family cohort, we identified a rare missense variant in GPR156 (c.1599G>T, p.Glu533Asp) associated with a two-fold increase in the
- [BCKDHA-BCKDHB digenic gene therapy restores metabolic homeostasis in two mouse models and a calf with classic maple syrup urine disease](https://clinicforspecialchildren.org/research/bckdha-bckdhb-digenic-gene-therapy-restores-metabolic-homeostasis-in-two-mouse-models-and-a-calf-with-classic-maple-syrup-urine-disease/) - Classic maple syrup urine disease (MSUD) results from biallelic mutations in genes that encode the branched-chain α-ketoacid dehydrogenase E1α (BCKDHA), E1β (BCKDHB), or dihydrolipoamide branched-chain transacylase (DBT) subunits, which interact to form the mitochondrial BCKDH complex that decarboxylates ketoacid derivatives of leucine, isoleucine, and valine. MSUD is an inborn error of metabolism characterized by recurrent life-threatening neurologic crises and
- [High-tech care in the Amish: Chronic respiratory failure in Ellis-van Creveld syndrome](https://clinicforspecialchildren.org/research/high-tech-care-in-the-amish-chronic-respiratory-failure-in-ellis-van-creveld-syndrome/)
- [Preemptive dual therapy for children at risk for infantile-onset spinal muscular atrophy](https://clinicforspecialchildren.org/research/preemptive-dual-therapy-for-children-at-risk-for-infantile-onset-spinal-muscular-atrophy/) - Compare efficacy of gene therapy alone (monotherapy) or in combination with an SMN2 augmentation agent (dual therapy) for treatment of children at risk for spinal muscular atrophy type 1.
- [Hypotonia and Failure to Thrive in an 8-month-old Infant](https://clinicforspecialchildren.org/research/hypotonia-and-failure-to-thrive-in-an-8-month-old-infant/) - An 8-month-old unimmunized boy presents to the emergency department with 10 days of progressive weakness. He has become limp and too weak to roll over or hold his bottle, and he is disinterested in feeding and has lost weight. His parents have been administering him sips of a reconstituted sports drink. On review of systems,
- [Neural-specific alterations in glycosphingolipid biosynthesis and cell signaling associated with two human ganglioside GM3 synthase deficiency variants](https://clinicforspecialchildren.org/research/neural-specific-alterations-in-glycosphingolipid-biosynthesis-and-cell-signaling-associated-with-two-human-ganglioside-gm3-synthase-deficiency-variants/) - GM3 Synthase Deficiency (GM3SD) is a neurodevelopmental disorder resulting from pathogenic variants in the ST3GAL5 gene, which encodes GM3 synthase, a glycosphingolipid (GSL)-specific sialyltransferase. This enzyme adds a sialic acid to the terminal galactose of lactosylceramide (LacCer) to produce the monosialylated ganglioside GM3. In turn, GM3 is extended by other glycosyltransferases to generate nearly all
- [WiTNNess: An international natural history study of infantile-onset TNNT1 myopathy](https://clinicforspecialchildren.org/research/witnness-an-international-natural-history-study-of-infantile-onset-tnnt1-myopathy/) - We created WiTNNess as a hybrid prospective/cross-sectional observational study to simulate a clinical trial for infantile-onset TNNT1 myopathy. Our aims were to identify populations for future trial enrollment, rehearse outcome assessments, specify endpoints, and refine trial logistics.
- [Crigler-Najjar Syndrome Type 1: Pathophysiology, Natural History, and Therapeutic Frontier](https://clinicforspecialchildren.org/research/natural-history-therapeutic-development-liver-neurogenetic/) - We describe the pathophysiology, treatment, and outcome of Crigler-Najjar type 1 syndrome (CN1) in 28 UGT1A1 c.222C>A homozygotes followed for 520 aggregate patient-years.
- [Orthopaedic manifestations of glutaric acidemia Type 1](https://clinicforspecialchildren.org/research/orthopaedic-manifestations-of-glutaric-acidemia-type-1/) - Glutaric acidemia type 1 (GA1), a rare hereditary metabolic disease caused by biallelic mutations of GCDH, can result in acute or insidious striatal degeneration within the first few years of life. We reviewed the orthopaedic sequelae and management of 114 neurologically injured patients with a confirmed molecular diagnosis of GA1.
- [Rescue of GM3 synthase deficiency by spatially controlled, rAAV-mediated ST3GAL5 delivery](https://clinicforspecialchildren.org/research/rescue-of-gm3-synthase-deficiency-by-spatially-controlled-raav-mediated-st3gal5-delivery/) - GM3 synthase deficiency (GM3SD) is an infantile-onset epileptic encephalopathy syndrome caused by biallelic loss-of-function mutations in ST3GAL5. Loss of ST3GAL5 activity in humans results in systemic ganglioside deficiency and severe neurological impairment. No disease-modifying treatment is currently available. Certain recombinant adeno-associated viruses (rAAVs) can cross the blood-brain barrier to induce widespread, long-term gene expression in
- [Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy](https://clinicforspecialchildren.org/research/pathogenic-variants-in-slf2-and-smc5-cause-segmented-chromosomes-and-mosaic-variegated-hyperploidy/) - Embryonic development is dictated by tight regulation of DNA replication, cell division and differentiation. Mutations in DNA repair and replication genes disrupt this equilibrium, giving rise to neurodevelopmental disease characterized by microcephaly, short stature and chromosomal breakage. Here, we identify biallelic variants in two components of the RAD18-SLF1/2-SMC5/6 genome stability pathway, SLF2 and SMC5, in
- [Domino liver transplant from a donor with maple syrup urine disease into a recipient with phenylketonuria](https://clinicforspecialchildren.org/research/domino-liver-transplant-from-a-donor-with-maple-syrup-urine-disease-into-a-recipient-with-phenylketonuria/) - Classical phenylketonuria (PKU) presents a unique challenge for women of child-bearing age. In the context of pregnancy, poorly controlled hyperphenylalaninemia can result in a devastating constellation of outcomes for the baby referred to as the maternal PKU Syndrome. We present the case of a woman with classical PKU unable to maintain a restricted diet and
- [Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial](https://clinicforspecialchildren.org/research/onasemnogene-abeparvovec-for-presymptomatic-infants-with-three-copies-of-smn2-at-risk-for-spinal-muscular-atrophy-the-phase-iii-spr1nt-trial/) - Most children with biallelic SMN1 deletions and three SMN2 copies develop spinal muscular atrophy (SMA) type 2. SPR1NT (NCT03505099), a Phase III, multicenter, single-arm trial, investigated the efficacy and safety of onasemnogene abeparvovec for presymptomatic children with biallelic SMN1 mutations treated within six postnatal weeks. Of 15 children with three SMN2 copies treated before symptom
- [Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial](https://clinicforspecialchildren.org/research/onasemnogene-abeparvovec-for-presymptomatic-infants-with-two-copies-of-smn2-at-risk-for-spinal-muscular-atrophy-type-1-the-phase-iii-spr1nt-trial/) - SPR1NT (NCT03505099) was a Phase III, multicenter, single-arm study to investigate the efficacy and safety of onasemnogene abeparvovec for presymptomatic children with biallelic SMN1 mutations treated at ≤6 weeks of life. Here, we report final results for 14 children with two copies of SMN2, expected to develop spinal muscular atrophy (SMA) type 1. Efficacy was
- [Impact of parental relatedness on reproductive outcomes among the Old Order Amish of Lancaster County](https://clinicforspecialchildren.org/research/impact-of-parental-relatedness-on-reproductive-outcomes-among-the-old-order-amish-of-lancaster-county/) - Genetically isolated populations that arise due to recent bottleneck events have reduced genetic variation reflecting the common set of founders. Increased genetic relatedness among members of isolated populations puts them at increased risk for some recessive disorders that are rare in outbred populations. To assess the burden on reproductive health, we compared frequencies of adverse
- [Nusinersen by subcutaneous intrathecal catheter for symptomatic spinal muscular atrophy patients with complex spine anatomy](https://clinicforspecialchildren.org/research/nusinersen-by-subcutaneous-intrathecal-catheter-for-symptomatic-spinal-muscular-atrophy-patients-with-complex-spine-anatomy-2/) - Intrathecal administration of nusinersen is challenging in patients with spinal muscular atrophy (SMA) who have spine deformities or fusions. We prospectively studied the safety and efficacy of nusinersen administration via an indwelling subcutaneous intrathecal catheter (SIC) for SMA patients with advanced disease.
- [Clinical characterization of familial hypercholesterolemia due to an amish founder mutation in Apolipoprotein B](https://clinicforspecialchildren.org/research/clinical-characterization-of-familial-hypercholesterolemia-due-to-an-amish-founder-mutation-in-apolipoprotein-b/) - Familial hypercholesterolemia (FH) due to a founder variant in Apolipoprotein B (ApoBR3500Q) is reported in 12% of the Pennsylvania Amish community. By studying a cohort of ApoBR3500Q heterozygotes and homozygotes, we aimed to characterize the biochemical and cardiac imaging features in children and young adults with a common genetic background and similar lifestyle.
- [Disease burden and management of Crigler-Najjar syndrome: Report of a world registry](https://clinicforspecialchildren.org/research/disease-burden-and-management-of-crigler-najjar-syndrome-report-of-a-world-registry/)
- [NPRL3 loss alters neuronal morphology, mTOR localization, cortical lamination, and seizure threshold](https://clinicforspecialchildren.org/research/nprl3-loss-alters-neuronal-morphology-mtor-localization-cortical-lamination-and-seizure-threshold/) - Mutations in nitrogen permease regulator-like 3 (NPRL3), a component of the GATOR1 complex within the mechanistic target of rapamycin (mTOR) pathway, are associated with epilepsy and malformations of cortical development.
- [Mendelian disease research in the Plain populations of Lancaster County, Pennsylvania](https://clinicforspecialchildren.org/research/mendelian-disease-research-in-the-plain-populations-of-lancaster-county-pennsylvania/) - Founder populations have long contributed to our knowledge of rare disease genes and phenotypes. From the pioneering work of Dr. Victor McKusick to today, research in these groups has shed light on rare recessive phenotypes, expanded the clinical spectrum of disease, and facilitated disease gene identification. Current clinical and research studies in these special groups
- [APC7 mediates ubiquitin signaling in constitutive heterochromatin in the developing mammalian brain](https://clinicforspecialchildren.org/research/apc7-mediates-ubiquitin-signaling-in-constitutive-heterochromatin-in-the-developing-mammalian-brain/) - Neurodevelopmental cognitive disorders provide insights into mechanisms of human brain development. Here, we report an intellectual disability syndrome caused by the loss of APC7, a core component of the E3 ubiquitin ligase anaphase promoting complex (APC). In mechanistic studies, we uncover a critical role for APC7 during the recruitment and ubiquitination of APC substrates. In
- [A biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorder](https://clinicforspecialchildren.org/research/a-biallelic-snip1-amish-founder-variant-causes-a-recognizable-neurodevelopmental-disorder/) - SNIP1 (Smad nuclear interacting protein 1) is a widely expressed transcriptional suppressor of the TGF-β signal-transduction pathway which plays a key role in human spliceosome function. Here, we describe extensive genetic studies and clinical findings of a complex inherited neurodevelopmental disorder in 35 individuals associated with a SNIP1 NM_024700.4:c.1097A>G, p.(Glu366Gly) variant, present at high frequency
- [Long-term liver transplant outcomes for progressive familial intrahepatic cholestasis type 1: The Pittsburgh experience](https://clinicforspecialchildren.org/research/long-term-liver-transplant-outcomes-for-progressive-familial-intrahepatic-cholestasis-type-1-the-pittsburgh-experience/) - Background: Progressive familial intrahepatic cholestasis type 1 (PFIC1) arises from biallelic variants in the ATP8B1 gene that annul FIC1 activity, resulting in progressive liver disease. Liver transplant (LT) is indicated in refractory disease; however, post-LT complications including worsening diarrhea and steatohepatitis progressing to fibrosis with graft loss have been reported. We aim to describe long-term outcomes
- [Cortical overgrowth in a preclinical forebrain organoid model of CNTNAP2-associated autism spectrum disorder](https://clinicforspecialchildren.org/research/cortical-overgrowth-in-a-preclinical-forebrain-organoid-model-of-cntnap2-associated-autism-spectrum-disorder/) - We utilized forebrain organoids generated from induced pluripotent stem cells of patients with a syndromic form of Autism Spectrum Disorder (ASD) with a homozygous protein-truncating mutation in CNTNAP2, to study its effects on embryonic cortical development. Patients with this mutation present with clinical characteristics of brain overgrowth. Patient-derived forebrain organoids displayed an increase in volume
- [Nusinersen by subcutaneous intrathecal catheter for symptomatic spinal muscular atrophy patients with complex spine anatomy](https://clinicforspecialchildren.org/research/nusinersen-by-subcutaneous-intrathecal-catheter-for-symptomatic-spinal-muscular-atrophy-patients-with-complex-spine-anatomy/) - Introduction/Aims: Intrathecal administration of nusinersen is challenging in patients with spinal muscular atrophy (SMA) who have spine deformities or fusions. We prospectively studied the safety and efficacy of nusinersen administration via an indwelling subcutaneous intrathecal catheter (SIC) for SMA patients with advanced disease. Methods: Seventeen participants commenced nusinersen therapy between 2.7 and 31.5 years of
- [Metabolic Control and "Ideal" Outcomes in Liver Transplantation for Maple Syrup Urine Disease](https://clinicforspecialchildren.org/research/metabolic-control-and-ideal-outcomes-in-liver-transplantation-for-maple-syrup-urine-disease/) - To assess outcomes following liver transplantation for maple syrup urine disease by determining attainment and sustainability of metabolic control and apply an "ideal" outcome composite in long-term survivors.
- [Clinical Trial and Postmarketing Safety of Onasemnogene Abeparvovec Therapy](https://clinicforspecialchildren.org/research/clinical-trial-and-postmarketing-safety-of-onasemnogene-abeparvovec-therapy/) - This is the first description of safety data for intravenous onasemnogene abeparvovec, the only approved systemically administered gene-replacement therapy for spinal muscular atrophy.
- [Truncation by Glu180 nonsense mutation results in complete loss of slow skeletal muscle troponin T in a lethal nemaline myopathy](https://clinicforspecialchildren.org/research/truncation-by-glu180-nonsense-mutation-results-in-complete-loss-of-slow-skeletal-muscle-troponin-t-in-a-lethal-nemaline-myopathy/) - A lethal form of nemaline myopathy, named “Amish Nemaline Myopathy” (ANM), is linked to a nonsense mutation at codon Glu180 in the slow skeletal muscle troponin T (TnT) gene. We found that neither the intact nor the truncated slow TnT protein was present in the muscle of patients with ANM. The complete loss of slow
- [TNNT1 nemaline myopathy: natural history and therapeutic frontier.](https://clinicforspecialchildren.org/research/tnnt1-nemaline-myopathy-natural-history-and-therapeutic-frontier/) - We describe the natural history of 'Amish' nemaline myopathy (ANM), an infantile-onset, lethal disease linked to a pathogenic c.505G>T nonsense mutation of TNNT1, which encodes the slow fiber isoform of troponin T (TNNT1; a.k.a. TnT). The TNNT1 c.505G>T allele has a carrier frequency of 6.5% within Old Order Amish settlements of North America. We collected
- [Spinal muscular atrophy within Amish and Mennonite populations: Ancestral haplotypes and natural history](https://clinicforspecialchildren.org/research/spinal-muscular-atrophy-within-amish-and-mennonite-populations-ancestral-haplotypes-and-natural-history/) - We correlate chromosome 5 haplotypes and SMN2 copy number with disease expression in 42 Mennonite and 14 Amish patients with spinal muscular atrophy (SMA). A single haplotype (A1) with 1 copy of SMN2 segregated among all Amish patients. SMN1 deletions segregated on four different Mennonite haplotypes that carried 1 (M1a, M1b, M1c) or 2 (M2)
- [Spectrum of KV 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental Disorders](https://clinicforspecialchildren.org/research/spectrum-of-kv-2-1-dysfunction-in-kcnb1-associated-neurodevelopmental-disorders/) - Pathogenic variants in KCNB1, encoding the voltage-gated potassium channel KV 2.1, are associated with developmental and epileptic encephalopathy (DEE). Previous functional studies on a limited number of KCNB1 variants indicated a range of molecular mechanisms by which variants affect channel function, including loss of voltage sensitivity, loss of ion selectivity, and reduced cell-surface expression.
- [Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup](https://clinicforspecialchildren.org/research/severity-of-cardiomyopathy-associated-with-adenine-nucleotide-translocator-1-deficiency-correlates-with-mtdna-haplogroup/) - Mutations of both nuclear and mitochondrial DNA (mtDNA)–encoded mitochondrial proteins can cause cardiomyopathy associated with mitochondrial dysfunction. Hence, the cardiac phenotype of nuclear DNA mitochondrial mutations might be modulated by mtDNA variation. We studied a 13-generation Mennonite pedigree with autosomal recessive myopathy and cardiomyopathy due to an SLC25A4 frameshift null mutation (c.523delC, p.Q175RfsX38), which codes
- [Severe salt-losing 3β-hydroxysteroid dehydrogenase deficiency: treatment and outcomes of HSD3B2 c.35G>A homozygotes](https://clinicforspecialchildren.org/research/severe-salt-losing-3-hydroxysteroid-dehydrogenase-deficiency-treatment-and-outcomes-of-hsd3b2-c-35g-a-homozygotes/) - We review clinical presentation, disease course, treatment, and outcomes of a genetically homogenous population of HSD3B2-deficient patients.
- [Second-tier test for quantification of alloisoleucine and branched-chain amino acids in dried blood spots to improve newborn screening for maple syrup urine disease (MSUD)](https://clinicforspecialchildren.org/research/second-tier-test-for-quantification-of-alloisoleucine-and-branched-chain-amino-acids-in-dried-blood-spots-to-improve-newborn-screening-for-maple-syrup-urine-disease-msud/) - Newborn screening for maple syrup urine disease (MSUD) relies on finding increased concentrations of the branched-chain amino acids (BCAAs) leucine, isoleucine, and valine by tandem mass spectrometry (MS/MS). d-Alloisoleucine (allo-Ile) is the only pathognomonic marker of MSUD, but it cannot be identified by existing screening methods because it is not differentiated from isobaric amino acids.
- [RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability](https://clinicforspecialchildren.org/research/rsrc1-loss-of-function-variants-cause-mild-to-moderate-autosomal-recessive-intellectual-disability/)
- [Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia](https://clinicforspecialchildren.org/research/reduced-thymic-output-cell-cycle-abnormalities-and-increased-apoptosis-of-t-lymphocytes-in-patients-with-cartilage-hair-hypoplasia/) - Cartilage-hair hypoplasia (CHH) is characterized by metaphyseal dysplasia, bone marrow failure, increased risk of malignancies, and a variable degree of immunodeficiency. CHH is caused by mutations in the RNA component of the mitochondrial RNA processing (RMRP) endoribonuclease gene, which is involved in ribosomal assembly, telomere function, and cell cycle control.
- [Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2](https://clinicforspecialchildren.org/research/recessive-symptomatic-focal-epilepsy-and-mutant-contactin-associated-protein-like-2/) - Contactin-associated protein-like 2 (CASPR2) is encoded by CNTNAP2 and clusters voltage-gated potassium channels (K v 1.1) at the nodes of Ranvier. We report a homozygous mutation of CNTNAP2 in Old Order Amish children with cortical dysplasia, focal epilepsy, relative macrocephaly, and diminished deep-tendon reflexes. Intractable focal seizures began in early childhood, after which language regression,
- [Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73](https://clinicforspecialchildren.org/research/recessive-nephrocerebellar-syndrome-on-the-galloway-mowat-syndrome-spectrum-is-caused-by-homozygous-protein-truncating-mutations-of-wdr73/) - We describe a novel nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum among 30 children (ages 1.0 to 28years) from diverse Amish demes. Children with nephrocerebellar syndrome had progressive microcephaly, visual impairment,stagnant psychomotor development, abnormal extrapyramidal movements and nephrosis. Fourteen died between ages 2.7 and 28years, typically from renal failure. Post-mortem studies revealed (i) micrencephaly without
- [Recessive GM3 synthase deficiency: Natural history, biochemistry, and therapeutic frontier](https://clinicforspecialchildren.org/research/recessive-gm3-synthase-deficiency-natural-history-biochemistry-and-therapeutic-frontier/) - GM3 synthase, encoded by ST3GAL5, initiates synthesis of all downstream cerebral gangliosides. Here, we present biochemical, functional, and natural history data from 50 individuals homozygous for a pathogenic ST3GAL5 c.862C>T founder allele (median age 8.1, range 0.7-30.5 years). GM3 and its derivatives were undetectable in plasma. Weight and head circumference were normal at birth and
- [Rapamycin Prevents Seizures After Depletion of STRADA in a Rare Neurodevelopmental Disorder](https://clinicforspecialchildren.org/research/rapamycin-prevents-seizures-after-depletion-of-strada-in-a-rare-neurodevelopmental-disorder/) - A rare neurodevelopmental disorder in the Old Order Mennonite population called PMSE (polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome; also called Pretzel syndrome) is characterized by infantile-onset epilepsy, neurocognitive delay, craniofacial dysmorphism, and histopathological evidence of heterotopic neurons in subcortical white matter and subependymal regions. PMSE is caused by a homozygous deletion of exons 9 to
- [Preliminary safety and tolerability of a novel subcutaneous intrathecal catheter system for repeated outpatient dosing of nusinersen to children and adults with spinal muscular atrophy](https://clinicforspecialchildren.org/research/preliminary-safety-and-tolerability-of-a-novel-subcutaneous-intrathecal-catheter-system-for-repeated-outpatient-dosing-of-nusinersen-to-children-and-adults-with-spinal-muscular-atrophy/) - Many patients with spinal muscular atrophy (SMA) who might benefit from intrathecal antisense oligonucleotide (nusinersen) therapy have scoliosis or spinal fusion that precludes safe drug delivery. To circumvent spinal pathology, we designed a novel subcutaneous intrathecal catheter (SIC) system by connecting an intrathecal catheter to an implantable infusion port.
- [Posterior column ataxia with retinitis pigmentosa (AXPC1) maps to chromosome 1q31-q32](https://clinicforspecialchildren.org/research/posterior-column-ataxia-with-retinitis-pigmentosa-axpc1-maps-to-chromosome-1q31-q32/) - To establish a genetic linkage between highly polymorphic microsatellite loci and the disease locus responsible for an autosomal recessive neurodegenerative syndrome that causes posterior column ataxia and retinitis pigmentosa.
- [Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5](https://clinicforspecialchildren.org/research/polyhydramnios-megalencephaly-and-symptomatic-epilepsy-caused-by-a-homozygous-7-kilobase-deletion-in-lyk5/) - We used single nucleotide polymorphism (SNP) microarrays to investigate the cause of a symptomatic epilepsy syndrome in a group of seven distantly related Old Order Mennonite children. Autozygosity mapping was inconclusive, but closer inspection of the data followed by formal SNP copy number analyses showed that all affected patients had homozygous deletions of a single
- [One Community’s Effort to Control Genetic Disease](https://clinicforspecialchildren.org/research/one-community-s-effort-to-control-genetic-disease/) - In 1989, we established a small community health clinic to provide care for uninsured Amish and Mennonite children with genetic disorders. Over 20 years, we have used publicly available molecular data and sophisticated technologies to improve diagnostic efficiency, control laboratory costs, reduce hospitalizations, and prevent major neurological impairments within a rural underserved community. These actions
- [Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa](https://clinicforspecialchildren.org/research/mutations-in-flvcr1-cause-posterior-column-ataxia-and-retinitis-pigmentosa/) - The study of inherited retinal diseases has advanced our knowledge of the cellular and molecular mechanisms involved in sensory neural signaling. Dysfunction of two specific sensory modalities, vision and proprioception, characterizes the phenotype of the rare, autosomal-recessive disorder posterior column ataxia and retinitis pigmentosa (PCARP). Using targeted DNA capture and high-throughput sequencing, we analyzed the
- [Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling](https://clinicforspecialchildren.org/research/mutations-in-ddx3x-are-a-common-cause-of-unexplained-intellectual-disability-with-gender-specific-effects-on-wnt-signaling/) - Intellectual disability (ID) affects approximately 1%–3% of humans with a gender bias toward males. Previous studies have identifiedmutations in more than 100 genes on the X chromosome in males with ID, but there is less evidence for de novo mutations on theX chromosome causing ID in females. In this study we present 35 unique deleterious
- [Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant](https://clinicforspecialchildren.org/research/mutations-in-cradd-result-in-reduced-caspase-2-mediated-neuronal-apoptosis-and-cause-megalencephaly-with-a-rare-lissencephaly-variant/) - Lissencephaly is a malformation of cortical development typically caused by deficient neuronal migration resulting in cortical thickening and reduced gyration. Here we describe a "thin" lissencephaly (TLIS) variant characterized by megalencephaly, frontal predominant pachygyria, intellectual disability, and seizures. Trio-based whole-exome sequencing and targeted re-sequencing identified recessive mutations of CRADD in six individuals with TLIS from
- [Mutant deoxynucleotide carrier is associated with congenital microcephaly](https://clinicforspecialchildren.org/research/mutant-deoxynucleotide-carrier-is-associated-with-congenital-microcephaly/) - The disorder Amish microcephaly (MCPHA) is characterized by severe congenital microcephaly, elevated levels of alpha-ketoglutarate in the urine and premature death. The disorder is inherited in an autosomal recessive pattern and has been observed only in Old Order Amish families whose ancestors lived in Lancaster County, Pennsylvania. Here we show, by using a genealogy database
- [Mass spectrometric quantification of plasma glycosphingolipids in human GM3 ganglioside deficiency](https://clinicforspecialchildren.org/research/mass-spectrometric-quantification-of-plasma-glycosphingolipids-in-human-gm3-ganglioside-deficiency/) - Among Amish communities of North America, biallelic mutations of ST3GAL5 (c.694C > T) eliminate synthesis of GM3 and its derivative downstream a- and b-series gangliosides. Systemic ganglioside deficiency is associated with infantile onset psychomotor retardation, slow brain growth, intractable epilepsy, deafness, and cortical visual impairment. We developed a robust quantitative assay to simultaneously characterize glycan and ceramide
- [Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function](https://clinicforspecialchildren.org/research/mapping-of-sudden-infant-death-with-dysgenesis-of-the-testes-syndrome-siddt-by-a-snp-genome-scan-and-identification-of-tspyl-loss-of-function/) - We have identified a lethal phenotype characterized by sudden infant death (from cardiac and respiratory arrest) with dysgenesis of the testes in males [Online Mendelian Inheritance in Man (OMIM) accession no. 608800]. Twenty-one affected individuals with this autosomal recessive syndrome were ascertained in nine separate sibships among the Old Order Amish. High-density single-nucleotide polymorphism (SNP)
- [Management of hyperbilirubinemia and prevention of kernicterus in 20 patients with Crigler-Najjar disease](https://clinicforspecialchildren.org/research/management-of-hyperbilirubinemia-and-prevention-of-kernicterus-in-20-patients-with-crigler-najjar-disease/) - We summarize the treatment of 20 patients with Crigler-Najjar disease (CND) managed at one center from 1989 to 2005 (200 patient-years). Diagnosis was confirmed by sequencing the UGTA1A gene. Nineteen patients had a severe (type 1) phenotype. Major treatment goals were to maintain the bilirubin to albumin concentration ratio at
- [Management of Congenital Health Disease Associated with Ellis-van Creveld Short-rib Thoracic Dysplasia](https://clinicforspecialchildren.org/research/management-of-congenital-health-disease-associated-with-ellis-van-creveld-short-rib-thoracic-dysplasia/) - To evaluate clinical outcome of patients with Ellis-van Creveld syndrome (EVC) in whom congenital heart disease (CHD) repair was delayed intentionally to reduce the risk of postoperative respiratory morbidity and mortality.
- [Investigations of caspr2, an autoantigen of encephalitis and neuromyotonia](https://clinicforspecialchildren.org/research/investigations-of-caspr2-an-autoantigen-of-encephalitis-and-neuromyotonia/) - To report clinical and immunological investigations of contactin-associated proteinlike 2 (Caspr2), an autoantigen of encephalitis and peripheral nerve hyperexcitability (PNH) previously attributed to voltage-gated potassium channels (VGKC).
- [Immunologic and clinical features of 25 Amish patients with RMRP 70 A–>G cartilage hair hypoplasia](https://clinicforspecialchildren.org/research/immunologic-and-clinical-features-of-25-amish-patients-with-rmrp-70-a-g-cartilage-hair-hypoplasia/) - Cartilage-hair hypoplasia is a short limbed skeletal dysplasia associated with impairments in host-defense. To better understand the clinical heterogeneity of this disorder, we studied 25 Amish patients with homozygous mutations in RMRP (RMRP 70 A>G). Despite mutation homogeneity, eight (32%) patients had severe or recurrent infections, two (8%) of these children underwent bone-marrow transplantation for
- [Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy](https://clinicforspecialchildren.org/research/identification-of-c7orf11-ttdn1-gene-mutations-and-genetic-heterogeneity-in-nonphotosensitive-trichothiodystrophy/) - We have identified C7orf11, which localizes to the nucleus and is expressed in fetal hair follicles, as the first disease gene for nonphotosensitive trichothiodystrophy (TTD). C7orf11 maps to chromosome 7p14, and the disease locus has been designated “TTDN1” (TTDnonphotosensitive 1). Mutations were found in patients with Amish brittle-hair syndrome and in other nonphotosensititive TTD cases
- [Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease](https://clinicforspecialchildren.org/research/human-itch-e3-ubiquitin-ligase-deficiency-causes-syndromic-multisystem-autoimmune-disease/) - Ubiquitin ligases play an important role in the regulation of the immune system. Absence of Itch E3 ubiquitin ligase in mice has been shown to cause severe autoimmune disease. Using autozygosity mapping in a large Amish kindred, we identified a linkage region on chromosome 20 and selected candidate genes for screening. We describe, in ten
- [Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke](https://clinicforspecialchildren.org/research/homozygous-mutation-in-samhd1-gene-causes-cerebral-vasculopathy-and-early-onset-stroke/) - We describe an autosomal recessive condition characterized with cerebral vasculopathy and early onset of stroke in 14 individuals in Old Order Amish. The phenotype of the condition was highly heterogeneous, ranging from severe developmental disability to normal schooling. Cerebral vasculopathy was a major hallmark of the condition with a common theme of multifocal stenoses and
- [Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation](https://clinicforspecialchildren.org/research/homozygous-frameshift-mutation-in-tmco1-causes-a-syndrome-with-craniofacial-dysmorphism-skeletal-anomalies-and-mental-retardation/) - We identified an autosomal recessive condition in 11 individuals in the Old Order Amish of northeastern Ohio. The syndrome was characterized by distinctive craniofacial dysmorphism, skeletal anomalies, and mental retardation. The typical craniofacial dysmorphism included brachycephaly, highly arched bushy eyebrows, synophrys, long eyelashes, low-set ears, microdontism of primary teeth, and generalized gingival hyperplasia, whereas Sprengel
- [Heritability of complex white matter diffusion traits assessed in a population isolate](https://clinicforspecialchildren.org/research/heritability-of-complex-white-matter-diffusion-traits-assessed-in-a-population-isolate/) - Diffusion weighted imaging (DWI) methods can noninvasively ascertain cerebral microstructure by examining pattern and directions of water diffusion in the brain. We calculated heritability for DWI parameters in cerebral white (WM) and gray matter (GM) to study the genetic contribution to the diffusion signals across tissue boundaries.
- [Genome-wide SNP arrays as a diagnostic tool: clinical description, genetic mapping, and molecular characterization of Salla disease in an Old Order Mennonite population](https://clinicforspecialchildren.org/research/genome-wide-snp-arrays-as-a-diagnostic-tool-clinical-description-genetic-mapping-and-molecular-characterization-of-salla-disease-in-an-old-order-mennonite-population/) - An Old Order Mennonite child was evaluated for gross motor delay, truncal ataxia, and slow linear growth. The diagnostic evaluation, which included sub-specialty consultations, neuroimaging, and metabolic testing, was long, costly, and did not yield a diagnosis. Recognition of a similarly affected second cousin prompted a genome-wide homozygosity mapping study using high-density single nucleotide polymorphism
- [Genetics, medicine, and the Plain people](https://clinicforspecialchildren.org/research/genetics-medicine-and-the-plain-people/) - The Old Order Amish and Old Order Mennonite populations of Pennsylvania are descended from Swiss Anabaptist immigrants who came to the New World in the early eighteenth century. Today they live in many small endogamous demes across North America. Genetically, these demes have dissimilar allele frequencies and disease spectra owing to unique founders. Biological and
- [Genetic mapping and exome sequencing identify variants associated with five novel diseases](https://clinicforspecialchildren.org/research/genetic-mapping-and-exome-sequencing-identify-variants-associated-with-five-novel-diseases/) - The Clinic for Special Children (CSC) has integrated biochemical and molecular methods into a rural pediatric practice serving Old Order Amish and Mennonite (Plain) children. Among the Plain people, we have used single nucleotide polymorphism (SNP) microarrays to genetically map recessive disorders to large autozygous haplotype blocks (mean = 4.4 Mb) that contain many genes
- [GATORopathies: The role of amino acid regulatory gene mutations in epilepsy and cortical malformations](https://clinicforspecialchildren.org/research/gatoropathies-the-role-of-amino-acid-regulatory-gene-mutations-in-epilepsy-and-cortical-malformations/) - The mechanistic target of rapamycin (mTOR) pathway has been implicated in a growing number of malformations of cortical development (MCD) associated with intractable epilepsy. Mutations in single genes encoding mTOR pathway regulatory proteins have been linked to MCD such as focal cortical dysplasia (FCD) types IIa and IIb, hemimegalencephaly (HME), and megalencephaly. Recent studies have
- [Gangliosides and Hearing](https://clinicforspecialchildren.org/research/gangliosides-and-hearing/) - Severe auditory impairment observed in GM3 synthase-deficient mice and humans indicates that glycosphingolipids, especially sialic-acid containing gangliosides, are indispensable for hearing. Gangliosides associate with glycoproteins to form membrane microdomains, the composition of which plays a special role in maintaining the structural and functional integrity of hair cells. These microdomains, also called lipid rafts, connect with
- [Ganglioside GM3 is essential for the structural integrity and function of cochlear hair cells](https://clinicforspecialchildren.org/research/ganglioside-gm3-is-essential-for-the-structural-integrity-and-function-of-cochlear-hair-cells/) - GM3 synthase (ST3GAL5) is the first biosynthetic enzyme of a- and b-series gangliosides. Patients with GM3 synthase deficiency suffer severe neurological disability and deafness. Eight children (ages 4.1 ± 2.3 years) homozygous for ST3GAL5 c.694C>T had no detectable GM3 (a-series) or GD3 (b-series) in plasma. Their auditory function was characterized by the absence of middle
- [Fractures on bisphosphonates in osteoporosis pseudoglioma syndrome (OPPG): pQCT shows poor bone density and structure.](https://clinicforspecialchildren.org/research/fractures-on-bisphosphonates-in-osteoporosis-pseudoglioma-syndrome-oppg-pqct-shows-poor-bone-density-and-structure/) - Osteoporosis pseudoglioma syndrome (OPPG) is a rare autosomal recessive disorder of childhood osteoporosis and blindness due to inactivating mutations in LDL receptor-like protein 5 (LRP5). We and others have reported improvement in areal bone mineral density (aBMD) by DXA in OPPG on short term bisphosphonates. Long-term data on bisphosphonate use in OPPG and measures of
- [Elevated frequency and allelic heterogeneity of congenital nephrotic syndrome, Finnish type, in the old order Mennonites](https://clinicforspecialchildren.org/research/elevated-frequency-and-allelic-heterogeneity-of-congenital-nephrotic-syndrome-finnish-type-in-the-old-order-mennonites/)
- [Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood](https://clinicforspecialchildren.org/research/dopamine-transporter-deficiency-syndrome-phenotypic-spectrum-from-infancy-to-adulthood/) - Dopamine transporter deficiency syndrome due to SLC6A3 mutations is the first inherited dopamine ‘transportopathy’ to be described, with a classical presentation of early infantile-onset progressive parkinsonism dystonia. In this study we have identified a new cohort of patients with dopamine transporter deficiency syndrome, including, most significantly, atypical presentation later in childhood with a milder disease
- [Disease burden of Crigler-Najjar syndrome: systematic review and future perspectives](https://clinicforspecialchildren.org/research/disease-burden-of-crigler-najjar-syndrome-systematic-review-and-future-perspectives/) - Crigler-Najjar syndrome (CNS) results from biallelic mutations of UGT1A1 causing partial or total loss of uridine 5'-diphosphate glucuronyltransferase activity leading to unconjugated hyperbilirubinemia and its attendant risk for irreversible neurological injury (kernicterus). CNS is exceedingly rare and has been only partially characterized through relatively small studies, each comprising between two and 57 patients.
- [Diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency in the neonatal period by measurement of medium-chain fatty acids in plasma and filter paper blood samples](https://clinicforspecialchildren.org/research/diagnosis-of-medium-chain-acyl-coenzyme-a-dehydrogenase-deficiency-in-the-neonatal-period-by-measurement-of-medium-chain-fatty-acids-in-plasma-and-filter-paper-blood-samples/)
- [Diagnosis and management of glutaric aciduria type I](https://clinicforspecialchildren.org/research/diagnosis-and-management-of-glutaric-aciduria-type-i/) - Glutaric aciduria type I (GA1) is a preventable cause of acute brain damage in early childhood, leading to a severe dystonic-dyskinetic disorder that is similar to cerebral palsy and ranges from extreme hypotonia to choreoathetosis to rigidity with spasticity. Degeneration of the putamen and caudate typically occurs between 6 and 18 months of age and
- [Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania](https://clinicforspecialchildren.org/research/development-of-a-novel-next-generation-sequencing-assay-for-carrier-screening-in-old-order-amish-and-mennonite-populations-of-pennsylvania/) - Genetically isolated populations, such as the Old Order Amish and Old Order Mennonite communities, have an increased incidence of specific autosomal recessive disorders caused by the founder effect. In these populations, robust expanded carrier screening and diagnostic testing have the potential to reduce overall medical costs and improve patient outcomes. A novel next-generation sequencing assay
- [Defects in lymphocyte telomere homeostasis contribute to cellular immune phenotype in patients with cartilage-hair hypoplasia](https://clinicforspecialchildren.org/research/defects-in-lymphocyte-telomere-homeostasis-contribute-to-cellular-immune-phenotype-in-patients-with-cartilage-hair-hypoplasia/) - Mutations in the long noncoding RNA RNase component of the mitochondrial RNA processing endoribonuclease (RMRP) give rise to the autosomal recessive condition cartilage-hair hypoplasia (CHH). The CHH disease phenotype has some overlap with dyskeratosis congenita, a well-known "telomere disorder." RMRP binds the telomerase reverse transcriptase (catalytic subunit) in some cell lines, raising the possibility that
- [De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation](https://clinicforspecialchildren.org/research/de-novo-and-inherited-variants-in-gbf1-are-associated-with-axonal-neuropathy-caused-by-golgi-fragmentation/) - Distal hereditary motor neuropathies (HMNs) and axonal Charcot-Marie-Tooth neuropathy (CMT2) are clinically and genetically heterogeneous diseases characterized primarily by motor neuron degeneration and distal weakness. The genetic cause for about half of the individuals affected by HMN/CMT2 remains unknown. Here, we report the identification of pathogenic variants in GBF1 (Golgi brefeldin A-resistant guanine nucleotide exchange
- [De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy](https://clinicforspecialchildren.org/research/de-novo-and-bi-allelic-variants-in-ap1g1-cause-neurodevelopmental-disorder-with-developmental-delay-intellectual-disability-and-epilepsy/) - Adaptor protein (AP) complexes mediate selective intracellular vesicular trafficking and polarized localization of somatodendritic proteins in neurons. Disease-causing alleles of various subunits of AP complexes have been implicated in several heritable human disorders, including intellectual disabilities (IDs). Here, we report two bi-allelic (c.737C>A [p.Pro246His] and c.1105A>G [p.Met369Val]) and eight de novo heterozygous variants (c.44G>A [p.Arg15Gln],
- [Contemporary management of congenital malformations of the heart in infants with Ellis – van Creveld syndrome: a report of nine cases](https://clinicforspecialchildren.org/research/contemporary-management-of-congenital-malformations-of-the-heart-in-infants-with-ellis-van-creveld-syndrome-a-report-of-nine-cases/) - Ellis - van Creveld syndrome is an autosomal recessive disorder manifest by short-limb dwarfism, thoracic dystrophy, postaxial polydactyly, dysplastic nails and teeth, and an approximately 60% incidence of congenital malformations of the heart. Despite patients with Ellis - van Creveld syndrome being regarded as having a high surgical risk, few data are available regarding their
- [Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT](https://clinicforspecialchildren.org/research/complex-inheritance-of-familial-hypercholanemia-with-associated-mutations-in-tjp2-and-baat/) - Familial hypercholanemia (FHC) is characterized by elevated serum bile acid concentrations, itching, and fat malabsorption. We show here that FHC in Amish individuals is associated with mutations in tight junction protein 2 (encoded by TJP2, also known as ZO-2) and bile acid Coenzyme A: amino acid N-acyltransferase (encoded by BAAT). The mutation of TJP2, which
- [Clinical application of DNA microarrays: molecular diagnosis and HLA matching of an Amish child with severe combined immune deficiency](https://clinicforspecialchildren.org/research/clinical-application-of-dna-microarrays-molecular-diagnosis-and-hla-matching-of-an-amish-child-with-severe-combined-immune-deficiency/) - Amish and Mennonite children with severe combined immune deficiency (SCID) often die without treatment as a result of delayed diagnoses and prohibitive costs of therapy. In this detailed case report, we describe the novel use of DNA microarrays to improve the diagnosis and management of an Amish infant with SCID. Using 10,000 single nucleotide polymorphism
- [Cellular fate of truncated slow skeletal muscle troponin T produced by Glu180 nonsense mutation in amish nemaline myopathy](https://clinicforspecialchildren.org/research/cellular-fate-of-truncated-slow-skeletal-muscle-troponin-t-produced-by-glu180-nonsense-mutation-in-amish-nemaline-myopathy/) - A nonsense mutation at codon Glu180 in exon 11 of slow skeletal muscle troponin T (TnT) gene (TNNT1) causes an autosomal-recessive inherited nemaline myopathy. We previously reported the absence of intact or prematurely terminated slow TnT polypeptide in Amish nemaline myopathy (ANM) patient muscle. The present study further investigates the expression and fate of mutant
- [Cartilage hair hypoplasia: characteristics and orthopaedic manifestations](https://clinicforspecialchildren.org/research/cartilage-hair-hypoplasia-characteristics-and-orthopaedic-manifestations/) - Cartilage hair hypoplasia (CHH) is a rare metaphyseal chondrodysplasia characterized by short stature and short limbs, found primarily in Amish and Finnish populations. Cartilage hair hypoplasia is caused by mutations in the RMRP gene located on chromosome 9p13.3. The disorder has several characteristic orthopaedic manifestations, including joint laxity, limited elbow extension, ankle varus, and genu
- [Branched-chain Ketoacyl Dehydrogenase Deficiency: Maple Syrup Disease](https://clinicforspecialchildren.org/research/branched-chain-ketoacyl-dehydrogenase-deficiency-maple-syrup-disease/) - Classic maple syrup disease can be managed to allow a benign neonatal course, normal growth, and low hospitalization rates. The majority of affected infants that are prospectively managed have good neurodevelopmental outcome; however, acute metabolic intoxication and neurologic deterioration can develop rapidly at any age. Each episode is associated with a risk for cerebral edema,
- [Brain magnetic resonance imaging in suspected extrapyramidal cerebral palsy: observations in distinguishing genetic-metabolic from acquired causes](https://clinicforspecialchildren.org/research/brain-magnetic-resonance-imaging-in-suspected-extrapyramidal-cerebral-palsy-observations-in-distinguishing-genetic-metabolic-from-acquired-causes/) - Experienced clinicians recognize that some children who appear to have static cerebral palsy (CP) actually have underlying genetic-metabolic disorders. We report a series of patients with motor disorders seen in children with extrapyramidal CP in whom brain magnetic resonance imaging abnormalities provided important diagnostic clues in distinguishing genetic-metabolic disorders from other causes. One cause of
- [Biochemical correlates of neuropsychiatric illness in maple syrup urine disease](https://clinicforspecialchildren.org/research/biochemical-correlates-of-neuropsychiatric-illness-in-maple-syrup-urine-disease/) - Maple syrup urine disease (MSUD) is an inherited disorder of branched chain amino acid metabolism presenting with neonatal encephalopathy, episodic metabolic decompensation, and chronic amino acid imbalances. Dietary management enables survival and reduces risk of acute crises. Liver transplantation has emerged as an effective way to eliminate acute decompensation risk. Psychiatric illness is a reported
- [Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay](https://clinicforspecialchildren.org/research/bi-allelic-ccdc47-variants-cause-a-disorder-characterized-by-woolly-hair-liver-dysfunction-dysmorphic-features-and-global-developmental-delay/) - Ca2+ signaling is vital for various cellular processes including synaptic vesicle exocytosis, muscle contraction, regulation of secretion, gene transcription, and cellular proliferation. The endoplasmic reticulum (ER) is the largest intracellular Ca2+ store, and dysregulation of ER Ca2+ signaling and homeostasis contributes to the pathogenesis of various complex disorders and Mendelian disease traits. We describe four
- [Amish lethal microcephaly: a new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria](https://clinicforspecialchildren.org/research/amish-lethal-microcephaly-a-new-metabolic-disorder-with-severe-congenital-microcephaly-and-2-ketoglutaric-aciduria/) - A new metabolic disorder characterized by severe congenital microcephaly, death within the first year, and severe 2-ketoglutaric aciduria has been found among the Old-Order Amish of Lancaster County, Pennsylvania. Amish lethal microcephaly segregates as an autosomal recessive disorder and has an unusually high incidence of at least 1 in 500 births. When the infants are
- [An autosomal recessive disorder with posterior column ataxia and retinitis pigmentosa](https://clinicforspecialchildren.org/research/an-autosomal-recessive-disorder-with-posterior-column-ataxia-and-retinitis-pigmentosa/) - We report an autosomal recessive form of ataxia that is not allelic to Friedreich's disease in six individuals from a large kindred with family origins traced to a common founder of German-Swiss descent. The disorder begins during early childhood with a concentric contraction of the visual fields and proprioceptive loss. Eventually blindness, a severe sensory
- [Abnormal hepatic sinusoidal bile acid transport in an Amish kindred is not linked to FIC1 and is improved by ursodiol](https://clinicforspecialchildren.org/research/abnormal-hepatic-sinusoidal-bile-acid-transport-in-an-amish-kindred-is-not-linked-to-fic1-and-is-improved-by-ursodiol/) - The mechanism for abnormal hepatic bile acid transport was investigated in an 18-month-old Amish boy who presented with pruritus, poor growth, and severe bleeding episodes. Serum bilirubin, gamma-glutamyltranspeptidase, and cholesterol levels were normal, but prothrombin time and partial thromboplastin time were prolonged and bone alkaline phosphatase level was elevated.
- [AAV-Mediated Gene Therapy for Glycosphingolipid Biosynthesis Deficiencies](https://clinicforspecialchildren.org/research/aav-mediated-gene-therapy-for-glycosphingolipid-biosynthesis-deficiencies/) - De novo glycosphingolipid (GSL) biosynthesis defects cause severe neurological diseases, including hereditary sensory and autonomic neuropathy type 1A (HSAN1A), GM3 synthase deficiency, and hereditary spastic paraplegia type 26 (HSPG26), each lacking effective treatment. Recombinant adeno-associated virus (AAV)-mediated gene therapy has emerged as a powerful treatment for monogenic diseases and might be particularly suitable for these
- [A population-based study of KCNH7 p.Arg394His and bipolar spectrum disorder](https://clinicforspecialchildren.org/research/a-population-based-study-of-kcnh7-p-arg394his-and-bipolar-spectrum-disorder/) - We conducted blinded psychiatric assessments of 26 Amish subjects (52+11 years) from four families with prevalent bipolar spectrum disorder, identified 10 potentially pathogenic alleles by exome sequencing, tested association of these alleles with clinical diagnoses in the larger Amish Study of Major Affective Disorder (ASMAD) cohort, and studied mutant potassium channels in neurons. Fourteen of
- [A novel nemaline myopathy in the Amish caused by a mutation in troponin T1](https://clinicforspecialchildren.org/research/a-novel-nemaline-myopathy-in-the-amish-caused-by-a-mutation-in-troponin-t1/) - The nemaline myopathies are characterized by weakness and eosinophilic, rodlike (nemaline) inclusions in muscle fibers. Amish nemaline myopathy is a form of nemaline myopathy common among the Old Order Amish. In the first months of life, affected infants have tremors with hypotonia and mild contractures of the shoulders and hips. Progressive worsening of the proximal
- [A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome. Ophthalmology](https://clinicforspecialchildren.org/research/a-novel-mutation-of-lamb2-in-a-multigenerational-mennonite-family-reveals-a-new-phenotypic-variant-of-pierson-syndrome-ophthalmology/) - To describe a novel laminin beta-2 (LAMB2) mutation associated with nephritic syndrome and severe retinal disease without microcoria in a large, multi-generational family with Pierson syndrome.
- [A novel autosomal recessive malformation syndrome associated with developmental delay and distinctive facies maps to 16ptel in the Hutterite population](https://clinicforspecialchildren.org/research/a-novel-autosomal-recessive-malformation-syndrome-associated-with-developmental-delay-and-distinctive-facies-maps-to-16ptel-in-the-hutterite-population/) - The Hutterites are a genetically isolated Anabaptist group living on the North American prairies; their population numbers over 40,000, the majority of whom are descendants of 89 founders. An autosomal recessive developmental disorder was identified in four patients from two consanguineous Hutterite families. To our knowledge the clinical presentation is unique and undescribed. The patients
- [A multiplex human syndrome implicates a key role for intestinal cell kinase in development of central nervous, skeletal, and endocrine systems](https://clinicforspecialchildren.org/research/a-multiplex-human-syndrome-implicates-a-key-role-for-intestinal-cell-kinase-in-development-of-central-nervous-skeletal-and-endocrine-systems/) - Six infants in an Old Order Amish pedigree were observed to be affected with endocrine-cerebro-osteodysplasia (ECO). ECO is a previously unidentified neonatal lethal recessive disorder with multiple anomalies involving the endocrine, cerebral, and skeletal systems. Autozygosity mapping and sequencing identified a previously unknown missense mutation, R272Q, in ICK, encoding intestinal cell kinase (ICK). Our results
- [A homozygous SLITRK6 nonsense mutation is associated with progressive auditory neuropathy in humans](https://clinicforspecialchildren.org/research/a-homozygous-slitrk6-nonsense-mutation-is-associated-with-progressive-auditory-neuropathy-in-humans/) - SLITRK family proteins control neurite outgrowth and regulate synaptic development. In mice, Slitrk6 plays a role in the survival and innervation of sensory neurons in the inner ear, vestibular apparatus, and retina, and also influences axial eye length. We provide the first detailed description of the auditory phenotype in humans with recessive SLITRK6 deficiency.
- [A founder mutation in BBS2 is responsible for Bardet-Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disorders](https://clinicforspecialchildren.org/research/a-founder-mutation-in-bbs2-is-responsible-for-bardet-biedl-syndrome-in-the-hutterite-population-utility-of-snp-arrays-in-genetically-heterogeneous-disorders/) - Bardet-Biedl syndrome (BBS) is a multisystem genetically heterogeneous disorder, the clinical features of which are largely the consequence of ciliary dysfunction. BBS is typically inherited in an autosomal recessive fashion, and mutations in at least 14 genes have been identified. Here, we report the identification of a founder mutation in the BBS2 gene as the
- [3-Methylcrotonyl-coenzyme A carboxylase deficiency in Amish/Mennonite adults identified by detection of increased acylcarnitines in blood spots of their children](https://clinicforspecialchildren.org/research/3-methylcrotonyl-coenzyme-a-carboxylase-deficiency-in-amish-mennonite-adults-identified-by-detection-of-increased-acylcarnitines-in-blood-spots-of-their-children/) - Isolated 3-methylcrotonyl coenzyme A carboxylase (MCC) deficiency was documented in four adult women from the Amish/Mennonite population of Lancaster County, Pennsylvania. Metabolic and enzymatic investigations in these individuals were instituted after the detection of abnormal acylcarnitine profiles in blood spots obtained from their newborn children, in whom MCC activity was normal.
- [233rd ENMC International Workshop: Clinical Trial Readiness for Calpainopathies, Naarden, The Netherlands, 15-17 September 2017](https://clinicforspecialchildren.org/research/233rd-enmc-international-workshop-clinical-trial-readiness-for-calpainopathies-naarden-the-netherlands-15-17-september-2017/) - Eighteen researchers and clinicians and two representatives of patient organizations (Associazione Italiana Calpaina 3, Italy and Coalition to Cure Calpain3, USA), from 9 countries (France, Germany, Italy, Denmark, Spain, UK, Japan, Brazil and USA), met in Naarden, The Netherlands, from 15–17 September, 2017 to discuss clinical trial readiness for limb-girdle muscular dystrophy type 2A (LGMD2A;
- [Glutaric aciduria type I: a common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania](https://clinicforspecialchildren.org/research/glutaric-aciduria-type-i-a-common-cause-of-episodic-encephalopathy-and-spastic-paralysis-in-the-amish-of-lancaster-county-pennsylvania/) - We have diagnosed type I glutaric aciduria (GA-I) in 14 children from 7 Old Order Amish families in Lancaster County, Pennsylvania. An otherwise rare disorder, GA-I appears to be a common cause of acute encephalopathy and cerebral palsy among the Amish. The natural history of the disease, which was previously unrecognized in this population, is
- [Through my window–remarks at the 125th year celebration of Children’s Hospital of Boston](https://clinicforspecialchildren.org/research/through-my-window-remarks-at-the-125th-year-celebration-of-children-s-hospital-of-boston/)
- [Maintenance treatment of glutaryl-CoA dehydrogenase deficiency](https://clinicforspecialchildren.org/research/maintenance-treatment-of-glutaryl-coa-dehydrogenase-deficiency/) - This paper summarizes the published experience as well as results of the 3rd International Workshop on Glutaryl-CoA Dehydrogenase Deficiency held in October 2003 in Heidelberg, Germany, on the topic treatment of patients with glutaryl-CoA dehydrogenase (GCDH) deficiency. So far no international recommendation for treatment of GCDH deficiency exists. Such an approach is hampered by several
- [Challenges for basic research in glutaryl-CoA dehydrogenase deficiency](https://clinicforspecialchildren.org/research/challenges-for-basic-research-in-glutaryl-coa-dehydrogenase-deficiency/) - During the last decades, efforts have been made to elucidate the complex mechanisms underlying neuronal damage in glutaryl-CoA dehydrogenase deficiency. A combination of in vitro and in vivo investigations have facilitated the development of several hypotheses, including the probable pathogenic role of accumulating glutaric acid and 3-hydroxyglutaric acid. However, there are still many shortcomings that
- [Vascular dysfunction as an additional pathomechanism in glutaric aciduria type I](https://clinicforspecialchildren.org/research/vascular-dysfunction-as-an-additional-pathomechanism-in-glutaric-aciduria-type-i/) - The metabolic hallmark of glutaric aciduria type I (GA I) is the deficiency of glutaryl-CoA dehydrogenase (GCDH) with subsequent accumulation of glutaric acid, 3-hydroxglutaric acid (3-OH-GA) and glutaconic acid. Current concepts regarding pathomechanisms of GA I focus on investigations of excitotoxic effects of 3-OH-GA. To identify pathogenetically relevant genes, microarray analyses were performed using brain
- [Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish](https://clinicforspecialchildren.org/research/gene-structure-and-mutations-of-glutaryl-coenzyme-a-dehydrogenase-impaired-association-of-enzyme-subunits-that-is-due-to-an-a421v-substitution-causes-glutaric-acidemia-type-i-in-the-amish/) - The structure of the human glutaryl coenzyme A dehydrogenase (GCD) gene was determined to contain 11 exons and to span approximately 7 kb. Fibroblast DNA from 64 unrelated glutaric acidemia type I (GA1) patients was screened for mutations by PCR amplification and analysis of SSCP. Fragments with altered electrophoretic mobility were subcloned and sequenced to
- [Allele frequency distributions in pooled DNA samples: applications to mapping complex disease genes](https://clinicforspecialchildren.org/research/allele-frequency-distributions-in-pooled-dna-samples-applications-to-mapping-complex-disease-genes/) - Genetic studies of complex hereditary disorders require for their mapping the determination of genotypes at several hundred polymorphic loci in several hundred families. Because only a minority of markers are expected to show linkage and association in family data, a simple screen of genetic markers to identify those showing linkage in pooled DNA samples can
- [Type I glutaric aciduria, part 1: natural history of 77 patients](https://clinicforspecialchildren.org/research/type-i-glutaric-aciduria-part-1-natural-history-of-77-patients/) - Type I glutaric aciduria (GA1) results from mitochondrial matrix flavoprotein glutaryl-CoA dehydrogenase deficiency and is a cause of acute striatal necrosis in infancy. We present detailed clinical, neuroradiologic, molecular, biochemical, and functional data on 77 patients with GA1 representative of a 14-year clinical experience. Microencephalic macrocephaly at birth is the earliest sign of GA1 and
- [Safety, efficacy and physiological actions of a lysine-free, arginine-rich formula to treat glutaryl-CoA dehydrogenase deficiency: focus on cerebral amino acid influx.](https://clinicforspecialchildren.org/research/safety-efficacy-and-physiological-actions-of-a-lysine-free-arginine-rich-formula-to-treat-glutaryl-coa-dehydrogenase-deficiency-focus-on-cerebral-amino-acid-influx/) - Striatal degeneration from glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type 1, GA1) is associated with cerebral formation and entrapment of glutaryl-CoA and its derivatives that depend on cerebral lysine influx. In 2006 we designed a lysine-free study formula enriched with arginine to selectively block lysine transport across cerebral endothelia and thereby limit glutaryl-CoA production by brain.
- [The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism](https://clinicforspecialchildren.org/research/the-molecular-basis-of-3-methylcrotonylglycinuria-a-disorder-of-leucine-catabolism/) - 3-Methylcrotonylglycinuria is an inborn error of leucine catabolism and has a recessive pattern of inheritance that results from the deficiency of 3-methylcrotonyl-CoA carboxylase (MCC). The introduction of tandem mass spectrometry in newborn screening has revealed an unexpectedly high incidence of this disorder, which, in certain areas, appears to be the most frequent organic aciduria. MCC,
- [Tyrosine supplementation in phenylketonuria: diurnal blood tyrosine levels and presumptive brain influx of tyrosine and other large neutral amino acids](https://clinicforspecialchildren.org/research/tyrosine-supplementation-in-phenylketonuria-diurnal-blood-tyrosine-levels-and-presumptive-brain-influx-of-tyrosine-and-other-large-neutral-amino-acids/) - Tyrosine supplementation has not consistently been found to improve neuropsychologic function in phenylketonuria (PKU), possibly because of failure to achieve adequate levels of tyrosine in the brain.
- [Diagnosis and treatment of maple syrup disease: a study of 36 patients](https://clinicforspecialchildren.org/research/diagnosis-and-treatment-of-maple-syrup-disease-a-study-of-36-patients/) - To evaluate an approach to the diagnosis and treatment of maple syrup disease (MSD).
- [Genetic heritage of the Old Order Mennonites of southeastern Pennsylvania](https://clinicforspecialchildren.org/research/genetic-heritage-of-the-old-order-mennonites-of-southeastern-pennsylvania/) - The Old Order Mennonites of southeastern Pennsylvania are a religious isolate with origins in 16th-century Switzerland. The Swiss Mennonites immigrated to Pennsylvania over a 50-year period in the early 18th century. The history of this population in the United States provides insight into the increased incidence of several genetic diseases, most notably maple syrup urine
- [Type I glutaric aciduria, part 2: a model of acute striatal necrosis](https://clinicforspecialchildren.org/research/type-i-glutaric-aciduria-part-2-a-model-of-acute-striatal-necrosis/) - Type I glutaric aciduria (GA1) is an inborn error of organic acid metabolism that is associated with acute neurological crises, typically precipitated by an infectious illness. The neurological crisis coincides with swelling, metabolic depression, and necrosis of basal ganglia gray matter, especially the putamina and can be visualized as focal, stroke-like, signal hyperintensity on MRI.
- [Pediatric medicine and the genetic disorders of the Amish and Mennonite people of Pennsylvania](https://clinicforspecialchildren.org/research/pediatric-medicine-and-the-genetic-disorders-of-the-amish-and-mennonite-people-of-pennsylvania/) - The Clinic for Special Children in Lancaster County, Pennsylvania, is a community-supported, nonprofit pediatric medical practice for Amish and Mennonite children who have genetic disorders. Over a 14-year period, 1988-2002, we have encountered 39 heritable disorders among the Amish and 23 among the Mennonites. We emphasize early recognition and long-term medical care of children with
- [Glutaric aciduria type 1: a clinician’s view of progress](https://clinicforspecialchildren.org/research/glutaric-aciduria-type-1-a-clinician-s-view-of-progress/)
- [Identification of disease causing loci using an array-based genotyping approach on pooled DNA](https://clinicforspecialchildren.org/research/identification-of-disease-causing-loci-using-an-array-based-genotyping-approach-on-pooled-dna/) - Pooling genomic DNA samples within clinical classes of disease followed by genotyping on whole-genome SNP microarrays, allows for rapid and inexpensive genome-wide association studies. Key to the success of these studies is the accuracy of the allelic frequency calculations, the ability to identify false-positives arising from assay variability and the ability to better resolve association
- [Maple Syrup Urine Disease – GeneReviews](https://clinicforspecialchildren.org/research/maple-syrup-urine-disease-genereviews/)
- [Elective liver transplantation for the treatment of classical maple syrup urine disease](https://clinicforspecialchildren.org/research/elective-liver-transplantation-for-the-treatment-of-classical-maple-syrup-urine-disease/) - An 8.5-year-old girl with classical maple syrup urine disease (MSUD) required liver transplantation for hypervitaminosis A and was effectively cured of MSUD over an 8-year clinical follow-up period. We developed a collaborative multidisciplinary effort to evaluate the effects of elective liver transplantation in 10 additional children (age range 1.9–20.5 years) with classical MSUD. Patients were
- [Novel comparison of capillary electrophoresis versus immunoassay in the measurement of total percent carbohydrate deficient transferrin](https://clinicforspecialchildren.org/research/novel-comparison-of-capillary-electrophoresis-versus-immunoassay-in-the-measurement-of-total-percent-carbohydrate-deficient-transferrin/) - Novel comparison of CDT isoforms as determined by CE with an FDA-approved immunoassay kit.
- [Prevention of brain disease from severe 5,10-methylenetetrahydrofolate reductase deficiency](https://clinicforspecialchildren.org/research/prevention-of-brain-disease-from-severe-5-10-methylenetetrahydrofolate-reductase-deficiency/) - Over a four-year period, we collected clinical and biochemical data from five Amish children who were homozygous for missense mutations in 5,10-methylenetetrahydrofolate reductase (MTHFR c.1129C>T). The four oldest patients had irreversible brain damage prior to diagnosis. The youngest child, diagnosed and started on betaine therapy as a newborn, is healthy at her present age of
- [Mutations in methylenetetrahydrofolate reductase or cystathionine beta-synthase gene, or a high-methionine diet, increase homocysteine thiolactone levels in humans and mice](https://clinicforspecialchildren.org/research/mutations-in-methylenetetrahydrofolate-reductase-or-cystathionine-beta-synthase-gene-or-a-high-methionine-diet-increase-homocysteine-thiolactone-levels-in-humans-and-mice/) - Genetic disorders of homocysteine(Hcy) metabolism or a high-methionine diet lead toelevations of plasma Hcy levels. In humans, severegenetic hyperhomocysteinemia results in prematuredeath from vascular complications whereas dietaryhyperhomocysteinemia is often used to induce athero-sclerosis in animal models. Hcy is mistakenly selectedin place of methionine by methionyl-tRNA synthetaseduring protein biosynthesis, which results in the forma-tion of Hcy-thiolactone
- [Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency](https://clinicforspecialchildren.org/research/multimodal-imaging-of-striatal-degeneration-in-amish-patients-with-glutaryl-coa-dehydrogenase-deficiency/) - Despite early diagnosis, one-third of Amish infants with glutaryl-CoA dehydrogenase deficiency (GA1) develop striatal lesions that leave them permanently disabled. To better understand mechanisms of striatal degeneration, we retrospectively studied imaging results from 25 Amish GA1 patients homozygous for 1296C>T mutations in GCDH. Asymptomatic infants had reduced glucose tracer uptake and increased blood volume throughout
- [Genetic mapping of glutaric aciduria, type 3, to chromosome 7 and identification of mutations in c7orf10](https://clinicforspecialchildren.org/research/genetic-mapping-of-glutaric-aciduria-type-3-to-chromosome-7-and-identification-of-mutations-in-c7orf10/) - While screening Old Order Amish children for glutaric aciduria type 1 (GA1) between 1989 and 1993, we found three healthy children who excreted abnormal quantities of glutaric acid but low 3-hydroxyglutaric acid, a pattern consistent with glutaric aciduria type 3 (GA3). None of these children had the GCDH c.1262C→T mutation that causes GA1 among the
- [Mutations in cystathionine beta-synthase or methylenetetrahydrofolate reductase gene increase N-homocysteinylated protein levels in humans](https://clinicforspecialchildren.org/research/mutations-in-cystathionine-beta-synthase-or-methylenetetrahydrofolate-reductase-gene-increase-n-homocysteinylated-protein-levels-in-humans/) - Severely elevated plasma homocysteine(Hcy) levels observed in genetic disorders of Hcymetabolism are associated with pathologies in multipleorgans and lead to premature death due to vascularcomplications. In addition to elevating plasma Hcy,mutations in cystathionine ␤-synthase (CBS) or methyl-enetetrahydrofolate reductase (MTHFR) gene lead tomarkedly elevated levels of circulating Hcy-thiolactone.The thiooester chemistry of Hcy-thiolactone underliesits ability to form
- [Cerebral haemodynamics in patients with glutaryl-coenzyme A dehydrogenase deficiency](https://clinicforspecialchildren.org/research/cerebral-haemodynamics-in-patients-with-glutaryl-coenzyme-a-dehydrogenase-deficiency/) - In glutaric aciduria type 1, glutaryl-coenzyme A and its derivatives are produced from intracerebral lysine and entrapped at high concentrations within the brain, where they interfere with energy metabolism. Biochemical toxicity is thought to trigger stroke-like striatal degeneration in susceptible children under 2 years of age. Here, we explore vascular derangements that might also contribute
- [Classical maple syrup urine disease and brain development: principles of management and formula design](https://clinicforspecialchildren.org/research/classical-maple-syrup-urine-disease-and-brain-development-principles-of-management-and-formula-design/) - Branched-chain ketoacid dehydrogenase deficiency results in complex and volatile metabolic derangements that threaten brain development. Treatment for classical maple syrup urine disease (MSUD) should address this underlying physiology while also protecting children from nutrient deficiencies. Based on a 20-year experience managing 79 patients, we designed a study formula to (1) optimize transport of seven amino
- [Cognitive and adaptive functioning after liver transplantation for maple syrup urine disease: a case series](https://clinicforspecialchildren.org/research/cognitive-and-adaptive-functioning-after-liver-transplantation-for-maple-syrup-urine-disease-a-case-series/) - MSUD is a complex metabolic disorder that has been associated with central nervous system damage, developmental delays, and neurocognitive deficits. Although liver transplantation provides a metabolic cure for MSUD, changes in cognitive and adaptive functioning following transplantation have not been investigated. In this report we present data from 14 patients who completed cognitive and adaptive
- [Erythrocyte pyruvate kinase deficiency in an old-order Amish cohort: longitudinal risk and disease management](https://clinicforspecialchildren.org/research/erythrocyte-pyruvate-kinase-deficiency-in-an-old-order-amish-cohort-longitudinal-risk-and-disease-management/) - Pyruvate kinase deficiency is a chronic illness with age specific consequences. Newborns suffer life-threatening hemolytic crisis and hyperbilirubinemia. Adults are at risk for infections because of asplenia, pregnancy-related morbidity, and may suffer organ damage because of systemic iron overload. We describe 27 Old Order Amish patients (ages 8 months-52 years) homozygous for c.1436G>A mutations in
- [Liver transplantation for classical maple syrup urine disease: long-term follow-up in 37 patients and comparative United Network for Organ Sharing experience](https://clinicforspecialchildren.org/research/liver-transplantation-for-classical-maple-syrup-urine-disease-long-term-follow-up-in-37-patients-and-comparative-united-network-for-organ-sharing-experience/) - To assess clinical and neurocognitive function in children who have undergone liver transplantation for classical maple syrup urine disease (MSUD).
- [Primary Ciliary Dyskinesia-Causing Mutations in Amish and Mennonite Communities](https://clinicforspecialchildren.org/research/primary-ciliary-dyskinesia-causing-mutations-in-amish-and-mennonite-communities/) - To determine whether individuals with primary ciliary dyskinesia (PCD) from unrelated Amish and Mennonite families harbor a single and unique founder mutation.
- [CODAS Syndrome Is Associated with Mutations of LONP1, Encoding Mitochondrial AAA+ Lon Protease](https://clinicforspecialchildren.org/research/codas-syndrome-is-associated-with-mutations-of-lonp1-encoding-mitochondrial-aaa-lon-protease/) - CODAS syndrome is a multi-system developmental disorder characterized by cerebral, ocular, dental, auricular, and skeletal anomalies. Using whole-exome and Sanger sequencing, we identified four LONP1 mutations inherited as homozygous or compound-heterozygous combinations among ten individuals with CODAS syndrome. The individuals come from three different ancestral backgrounds (AmishSwiss from United States, n ¼ 8; Mennonite-German from
- [Development of DNA Confirmatory and High-Risk Diagnostic Testing for Newborns Using Targeted Next-Generation DNA Sequencing](https://clinicforspecialchildren.org/research/development-of-dna-confirmatory-and-high-risk-diagnostic-testing-for-newborns-using-targeted-next-generation-dna-sequencing/) - Genetic testing is routinely used for second-tier confirmation of newborn sequencing results to rule out false positives and to confirm diagnoses in newborns undergoing inpatient and outpatient care. We developed a targeted next-generation sequencing panel coupled with a variant processing pipeline and demonstrated utility and performance benchmarks across multiple newborn disease presentations in a retrospective
- [Living related transplantation for MSUD–caution, or a new path forward?](https://clinicforspecialchildren.org/research/living-related-transplantation-for-msud-caution-or-a-new-path-forward/)
- [Liver transplantation for treatment of severe S-adenosylhomocysteine hydrolase deficiency](https://clinicforspecialchildren.org/research/liver-transplantation-for-treatment-of-severe-s-adenosylhomocysteine-hydrolase-deficiency/) - A child with severe S-adenosylhomocysteine hydrolase (AHCY) deficiency (AHCY c.428A N G, p.Tyr143Cys; c.982 T N G, p.Tyr328Asp) presented at 8 months of age with growth failure, microcephaly, global developmental delay, myopathy, hepatopathy, and factor VII deficiency. Plasma methionine, S-adenosylmethionine (AdoMet), and S-adenosylhomocysteine (AdoHcy) were markedly elevated and the molar concentration ratio of AdoMet:AdoHcy, believed
- [A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiency](https://clinicforspecialchildren.org/research/a-critical-reappraisal-of-dietary-practices-in-methylmalonic-acidemia-raises-concerns-about-the-safety-of-medical-foods-part-2-cobalamin-c-deficiency/) - Cobalamin C (cblC) deficiency impairs the biosynthesis of 5'-deoxyadenosyl-adenosyl- and methyl-cobalamin, resulting in methylmalonic acidemia combined with hyperhomocysteinemia and hypomethioninemia. However, some patients with cblC deficiency are treated with medical foods, devoid of methionine and high in leucine content, that are formulated for patients with isolated propionate oxidative defects. We examined the effects of imbalanced
- [Living related versus deceased donor liver transplantation for maple syrup urine disease](https://clinicforspecialchildren.org/research/living-related-versus-deceased-donor-liver-transplantation-for-maple-syrup-urine-disease/) - Maple syrup urine disease (MSUD) is an inherited disorder of branched chain ketoacid (BCKA) oxidation associated with episodic and chronic brain disease. Transplantation of liver from an unrelated deceased donor restores 9-13% whole-body BCKA oxidation capacity and stabilizes MSUD. Recent reports document encouraging short-term outcomes for MSUD patients who received a liver segment from mutation
- [Abnormal Hypermethylation at Imprinting Control Regions in Patients with S-Adenosylhomocysteine Hydrolase (AHCY) Deficiency.](https://clinicforspecialchildren.org/research/abnormal-hypermethylation-at-imprinting-control-regions-in-patients-with-s-adenosylhomocysteine-hydrolase-ahcy-deficiency/) - S-adenosylhomocysteine hydrolase (AHCY) deficiency is a rare autosomal recessive disorder in methionine metabolism caused by mutations in the AHCY gene. Main characteristics are psychomotor delay including delayed myelination and myopathy (hypotonia, absent tendon reflexes etc.) from birth, mostly associated with hypermethioninaemia, elevated serum creatine kinase levels and increased genome wide DNA methylation. The prime function
- [Genomic diagnostics within a medically underserved population: efficacy and implications](https://clinicforspecialchildren.org/research/genomic-diagnostics-within-a-medically-underserved-population-efficacy-and-implications/) - We integrated whole-exome sequencing (WES) and chromosomal microarray analysis (CMA) into a clinical workflow to serve an endogamous, uninsured, agrarian community.
- [Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions](https://clinicforspecialchildren.org/research/monoallelic-bmp2-variants-predicted-to-result-in-haploinsufficiency-cause-craniofacial-skeletal-and-cardiac-features-overlapping-those-of-20p12-deletions/) - Bone morphogenetic protein 2 (BMP2) in chromosomal region 20p12 belongs to a gene superfamily encoding TGF-β-signaling proteins involved in bone and cartilage biology. Monoallelic deletions of 20p12 are variably associated with cleft palate, short stature, and developmental delay. Here, we report a cranioskeletal phenotype due to monoallelic truncating and frameshift BMP2 variants and deletions in
- [Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease](https://clinicforspecialchildren.org/research/homozygosity-for-a-mutation-affecting-the-catalytic-domain-of-tyrosyl-trna-synthetase-yars-causes-multisystem-disease/) - Aminoacyl-tRNA synthetases (ARSs) are critical for protein translation. Pathogenic variants of ARSs have been previously associated with peripheral neuropathy and multisystem disease in heterozygotes and homozygotes, respectively. We report seven related children homozygous for a novel mutation in tyrosyl-tRNA synthetase (YARS, c.499C > A, p.Pro167Thr) identified by whole exome sequencing. This variant lies within a
- [Clinical and genetic validity of quantitative bipolarity](https://clinicforspecialchildren.org/research/clinical-and-genetic-validity-of-quantitative-bipolarity/) - Research has yet to provide a comprehensive understanding of the genetic basis of bipolar disorder (BP). In genetic studies, defining the phenotype by diagnosis may miss risk-allele carriers without BP. The authors aimed to test whether quantitatively detected subclinical symptoms of bipolarity identifies a heritable trait that infers risk for BP. The Quantitative Bipolarity Scale
- [Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes](https://clinicforspecialchildren.org/research/branched-chain-ketoacid-dehydrogenase-deficiency-maple-syrup-urine-disease-treatment-biomarkers-and-outcomes/) - Over the past three decades, we studied 184 individuals with 174 different molecular variants of branched-chain α-ketoacid dehydrogenase activity, and here delineate essential clinical and biochemical aspects of the maple syrup urine disease (MSUD) phenotype. We collected data about treatment, survival, hospitalization, metabolic control, and liver transplantation from patients with classic (i.e., severe; n =
- [Chronic Meningitis Due to Prototheca zopfii in an Adolescent Girl](https://clinicforspecialchildren.org/research/chronic-meningitis-due-to-prototheca-zopfii-in-an-adolescent-girl/)
- [Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades](https://clinicforspecialchildren.org/research/glutaric-acidemia-type-1-treatment-and-outcome-of-168-patients-over-three-decades/) - Glutaric acidemia type 1 (GA1) is a disorder of cerebral organic acid metabolism resulting from biallelic mutations of GCDH. Without treatment, GA1 causes striatal degeneration in >80% of affected children before two years of age. We analyzed clinical, biochemical, and developmental outcomes for 168 genotypically diverse GA1 patients managed at a single center over 31
- [Liver transplant for inherited metabolic disease among siblings](https://clinicforspecialchildren.org/research/liver-transplant-for-inherited-metabolic-disease-among-siblings/) - Liver transplantation is a successful option for inherited metabolic disease yet little is published on the outcome among siblings. We report outcomes of siblings who have undergone liver transplantation for metabolic disease in a single program. Seventy-one siblings (35 males) from 33 individual families underwent liver transplantation since 1982. Outcomes were compared over three consecutive
- [Biochemical phenotype and its relationship to treatment in 16 individuals with PCCB c.1606A>G (p.Asn536Asp) variant propionic acidemia](https://clinicforspecialchildren.org/research/biochemical-phenotype-and-its-relationship-to-treatment-in-16-individuals-with-pccb-c-1606a-g-p-asn536asp-variant-propionic-acidemia/) - Propionic acidemia (PA) is caused by inherited deficiency of mitochondrial propionyl-CoA carboxylase (PCC) and results in significant neurodevelopmental and cardiac morbidity. However, relationships among therapeutic intervention, biochemical markers, and disease progression are poorly understood. Sixteen individuals homozygous for PCCB c.1606A > G (p.Asn536Asp) variant PA participated in a two-week suspension of therapy. Standard metabolic markers
- [A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes](https://clinicforspecialchildren.org/research/a-recurring-nfs1-pathogenic-variant-causes-a-mitochondrial-disorder-with-variable-intra-familial-patient-outcomes/) - Iron‑sulfur clusters (FeSCs) are vital components of a variety of essential proteins, most prominently within mitochondrial respiratory chain complexes I-III; Fe-S assembly and distribution is performed via multi-step pathways. Variants affecting several proteins in these pathways have been described in genetic disorders, including severe mitochondrial disease. Here we describe a Christian Arab kindred with two

## Patient Stories

- [Navigating CAH Together](https://clinicforspecialchildren.org/patient-stories/navigating-cah-together/) - As members of the Old Order Amish community, Susie and Aquilla Blank had heard of the Clinic for Special Children, but never imagined they would one day need the Clinic’s services themselves. When their third child, Seth, was born in September 2021, the attending midwife noticed concerning symptoms and encouraged the family to call the
- [Solving the Mystery of Aldosterone Deficiency](https://clinicforspecialchildren.org/patient-stories/solving-the-mystery-of-aldosterone-deficiency/) - Kathy Beiler seemed like a typical newborn baby when she arrived in August 2018, however, the situation quickly changed. When she was two weeks old, her family noticed she was not eating as much and seemed unsatisfied with each feeding. She also began to have trouble sleeping. In the following months, Kathy’s family also noticed
- [Receiving an Ultra Rare Diagnosis](https://clinicforspecialchildren.org/patient-stories/the-denlinger-family-story/) - The Denlingers had their first child, Kari, thirty-five years ago. When she was a few months old the family questioned her ability to see and noticed seizures. At the time, Kari's clinicians informed them that her situation was grave and that she was severely developmentally disabled. They were provided with an average life expectancy of
- [Navigating Seizures and a DEPDC5 Diagnosis](https://clinicforspecialchildren.org/patient-stories/navigating-seizures-and-a-depdc5-diagnosis/) - Jared Zimmerman was a typically active child for the first three years of his life. Shortly before his 4th birthday, he started to mention to his family that he felt "dizzy" when playing with his siblings and friends. When a dizzy episode would hit, he learned to lay down and it would pass in time.
- [Life with Ellis-van Creveld Syndrome](https://clinicforspecialchildren.org/patient-stories/life-with-ellis-van-creveld-syndrome/) - “I knew within 30 seconds of Becky being born that she had EVC (Ellis-van Creveld Syndrome),” remembers Linda Stoltzfus. Just hours after Linda and her husband, Abner, welcomed Becky into the world, they were surprised to find themselves at the Clinic for Special Children. “Our midwife stressed to us that we needed to get Becky’s
- [Caring for a Neighbor Facing Rare Disease](https://clinicforspecialchildren.org/patient-stories/the-esh-family-story/) - Jake and Mary Jane Esh, along with their four children, have lived as neighbors to the Clinic for Special Children in Strasburg for a number of years. They heard about the Clinic’s work in the community and even participated in our annual 5k race, but never thought that they’d need the Clinic’s services for their
- [From Infant to Young Adult](https://clinicforspecialchildren.org/patient-stories/from-infant-to-young-adult/) - Crystal Martin has been coming to the Clinic since she was two days old. That was 24 years ago. Born with Maple Syrup Urine Disease, or MSUD, Crystal benefitted from the Clinic’s groundbreaking discoveries into this devastating condition. Previously, one in three people with MSUD died in childhood. The condition left many others with severe
- [Turning Insight into Action](https://clinicforspecialchildren.org/patient-stories/turning-insight-into-action/) - When Melvin and Malinda Esh were expecting their first child in 2021, their midwife suggested they get carrier testing to see if they could potentially pass on a genetic condition to their baby. She recommended the couple get tested through the Clinic for Special Children’s Plain Insight Panel™ (PIP) – a carrier test that screens
- [MSUD & NICU](https://clinicforspecialchildren.org/patient-stories/msud-nicu/) - When Melissa Zimmerman heard a family member exclaim that her newborn baby girl smelled ‘so sweet’, she immediately knew something was amiss. Her newborn daughter, Kourtney, became fussier with each passing day and was refusing to eat. “After seeing how she was acting and hearing someone say that she smelled sweet, I had a gut
- [Insight to Diagnosis](https://clinicforspecialchildren.org/patient-stories/insight-to-diagnosis/) - “It was a relief that the Clinic for Special Children was able to provide us with a diagnosis and save us from going for more testing,” explains Karen Stauffer. When she and her husband, Glenn, first noticed that their daughter, Veanne, was delayed in starting to walk, they became concerned. “Our family recommended that we
- [Care Closer to Home](https://clinicforspecialchildren.org/patient-stories/care-closer-to-home/) - Leah Yoder has known the Clinic for Special Children for most of her life. As a little girl, she remembers tagging along with her siblings to their appointments at our original Strasburg location. Nearly two decades later, when Leah was expecting her first child, a daughter named Denna, she was grateful to be already familiar
- [Hearing Again](https://clinicforspecialchildren.org/patient-stories/hearing-again/) - At 42 years old, Linda Rose Blank is rediscovering sound. Born with a rare genetic disorder called Usher syndrome type IIIB, caused by changes in the gene HARS1, Linda was able to hear and see in early childhood. Around the age of five, however, she began to experience gradual vision and hearing loss. By the
- [Long-awaited Answers](https://clinicforspecialchildren.org/patient-stories/long-awaited-answers/) - When Carolyn Martin first brought her 25-year-old daughter, Cassandra, to the Clinic for Special Children, she left the appointment feeling amazed. “The doctors, nurses, and genetic counselor asked all sorts of questions about Cassandra. They were interested in every part of her health, and I could tell they cared about her. They shared my concerns
- [Walking a Journey](https://clinicforspecialchildren.org/patient-stories/walking-a-journey/) - When Zach and Rachel Hurst’s first child Abigail (Abby) started to miss developmental milestones, they became concerned. “When Abby was several months old, she began to scream during car rides and had a hard time supporting herself in a sitting position,” explained Rachel. “We started trying to find an answer and visited many doctors who
- [Transplanting Hope](https://clinicforspecialchildren.org/patient-stories/transplanting-hope/) - After four months of illness, hospitalizations, and countless tests, Leon and Linda Hoover finally received a diagnosis for their son, Raylon. The answer – severe combined immunodeficiency (SCID) – is a rare and devastating disorder that renders an infant without a working immune system. The Hoover family heard about the Clinic for Special Children from
- [Beyond the Chair](https://clinicforspecialchildren.org/patient-stories/beyond-the-chair/) - On his website, Michael Fondacaro describes himself as “a young adult with many interests and hobbies: Motivational Speaker, Avid Skier with multiple medals, Competitive Chess player, College Graduate with a 3.8 GPA, Passionate Video Gamer.” “Oh yeah,” he adds, “I also use a wheelchair to get around and a communication device to speak.” Michael has
- [A Living Miracle](https://clinicforspecialchildren.org/patient-stories/a-living-miracle/) - If Alayna Wenger had been born 30 years ago, before the Clinic began, she probably would not have survived beyond her first birthday. But according to her parents, Lucinda and Lydell Wenger, she is now “a very normal, very active toddler.” Alayna was born with the genetic change that can cause Spinal Muscular Atrophy Type
- [A Family's Journey with GA-1](https://clinicforspecialchildren.org/patient-stories/a-familys-journey-with-ga-1/) - “The Clinic for Special Children is a shining star on many people’s journeys and I hope more people can find that star.” Ruth Watson speaks of frustrations, struggles and ultimately peace when describing her family’s journey in diagnosing and treating her son, Chris. Ruth had a routine pregnancy, delivery and first several months with her
- [At the Forefront of NPRL3](https://clinicforspecialchildren.org/patient-stories/at-the-forefront-of-nprl3/) - When Mabel Newswanger initially heard about the Clinic for Special Children, she never thought that her own child would require the Clinic’s services. In November 2016, the Newswanger’s suddenly noticed that their son, Randy, was having irrational fits of laughter a couple of times per day. Unbeknownst to the Newswanger’s at the time, Randy was
- [Searching Cross-Country for a Cure](https://clinicforspecialchildren.org/patient-stories/searching-cross-country-for-a-cure/) - Kris and Maureen Newkirk experienced an easy pregnancy and delivery with their third son, Charlie, in December of 2015. They never expected that several days after Charlie was born his state newborn screen test would come back positive for a disorder they had never heard of - Glutaric Acidemia Type 1 (GA-1). The Newkirk family
- [One in a Million](https://clinicforspecialchildren.org/patient-stories/one-in-a-million/) - Brittany Rosebrook noticed something wasn’t quite right during her pregnancy when she didn’t feel her son Tanner kicking or moving actively. After Tanner was born at the hospital, he was sent for a car seat test and was promised to be returned within an hour. This test places the baby in a properly reclined car
- [Treating Phenylketonuria (PKU) at the Clinic](https://clinicforspecialchildren.org/patient-stories/treating-phenylketonuria-pku-at-the-clinic/) - Estelle Weaver was born a week and a half early in August 2019. Her parents, Kenneth and Eve, were thrilled at the birth of their sixth child and second daughter. Before she left the hospital, Estelle received the state newborn “heel-stick” test. Four days later, they received the call that Estelle’s test was positive for
- [Adult Services at the Clinic](https://clinicforspecialchildren.org/patient-stories/katie-martins-story/) - Katie Martin has experienced seizures for as long as she can remember. “When I was two years old, my family thought I was having nightmares when they would hear me in the middle of the night. It was only when I started having seizures during the day that we realized they were actually seizures.” Throughout
- [Finding Hope with TNNT1 myopathy](https://clinicforspecialchildren.org/patient-stories/6967/) - When Esther and Michael Stoltzfus were expecting their second son, Joseph (Josie), they knew it was a blessing to have a healthy baby as both of their families had a history of rare genetic disorders. When Josie arrived six weeks early in the spring of 2019, he spent his first 11 days in the NICU
- [Quickly Diagnosing TJP2](https://clinicforspecialchildren.org/patient-stories/the-stoltzfus-family/) - “When Amanda was born we had no idea that she would be special or different,” Ada Ruth Stoltzfus explains of her daughter, Amanda. At around four months of age, Ada Ruth noticed that Amanda began to wake up frequently during the night and her quality of sleep declined drastically. In addition to sleep issues, Amanda

## Testimonials

- [Nicholas Rothwein](https://clinicforspecialchildren.org/testimonials/nicholas-rothwein/) - Nick joined the Research Team for a summer internship after graduating with a Bachelor of Science in Chemistry from The George Washington University in Washington, D.C. in 2026. Having grown up not far from the Clinic's current location, he loved the opportunity to get involved and help the Clinic's mission after hearing about our work
- [Molly Sterner](https://clinicforspecialchildren.org/testimonials/molly-sterner/) - As a proud descendant of the Pennsylvania Dutch and a Millersville University alum, the people of Lancaster County and the Plain community have a special place in Molly's heart. During her genetic counseling training program at Thomas Jefferson University, Molly completed a clinical rotation at the Clinic, allowing her to further engage with the community
- [Claire Magill](https://clinicforspecialchildren.org/testimonials/claire-magill/) - Claire interned with the Clinic in the summer of 2023, in between her junior and senior years at Juniata College. At Juniata, she studied biology with a minor in psychology. Her internship interest at the Clinic perfectly aligned with her roots of growing up in Lancaster County and her aspirations to become a genetic counselor.
- [Evelyn Ramirez](https://clinicforspecialchildren.org/testimonials/evelyn-ramirez/) - During her graduate studies in Genetic Counseling at the University of Pennsylvania, Evelyn completed a two-month clinical rotation at the Clinic. While at the Clinic, she participated in clinical visits with new patients and communicated genetic results for their rare disorder.
- [Mariah Everett](https://clinicforspecialchildren.org/testimonials/mariah-everett/) - After graduating from Swarthmore College in 2018, Mariah did a summer internship at the Clinic for Special Children. Mariah’s research was a natural history study of Familial Focal Epilepsy with Variable Foci among the Old Order Mennonites caused by mutations in NPRL3 and DEPDC5. She returned to the Clinic as a full-time Research Assistant in
- [Lauren Bowser](https://clinicforspecialchildren.org/testimonials/lauren-bowser/) - While a student at Franklin & Marshall College in Lancaster, Lauren volunteered at the Clinic as a Student Researcher, helping with natural history studies of Spinal Muscular Atrophy (SMA) and GM3 Synthase Deficiency. Upon her graduation in 2018, Lauren joined the Clinic staff full-time as a Research Fellow. She assisted Clinic researchers, scientists, and physicians

## Events

- [2026 Plain Community Health Consortium Translational Medicine Conference](https://clinicforspecialchildren.org/event/2026-plain-community-health-consortium-translational-medicine-conference/) - 2026 Plain Community Health Consortium Conference July 20 – 21, 2026 Holiday Inn/Imperial Event Center Lancaster, PA ___________________________________________________ Registration is now closed. View the agenda here To view event details and register, please visit the PCHC website HERE. The Clinic for Special Children is hosting the 12th Annual Plain Community Health Consortium conference at the
- [Shippensburg Benefit Auction](https://clinicforspecialchildren.org/event/shippensburg-benefit-auction-7/) - Join us for the annual Shippensburg Benefit Auction on Saturday, June 27th! The Cumberland Valley Produce Auction will host the day of community spirit and exceptional craftsmanship. Whether you're a collector of handmade quilts or looking for the perfect piece of handcrafted furniture, your participation provides life-changing support to families served by the Clinic for
- [Lancaster County Benefit Auction](https://clinicforspecialchildren.org/event/lancaster-county-benefit-auction-7/) - Join us for our annual Lancaster County Benefit Auction on Saturday, June 20, 2026, at the Leola Produce Auction. Whether you are looking for a masterpiece quilt or some delicious food, your presence makes a difference. 100% of proceeds go directly to the Clinic for Special Children, providing critical care for families navigating rare genetic
- [2026 Clinic for Special Children 5k](https://clinicforspecialchildren.org/event/2026-clinic-for-special-children-5k/) - Join us on May 16, 2026! Runners, joggers, and walkers – join us for the Clinic for Special Children 5k, a chip-timed, 3.1-mile race along rolling scenic roads through Lancaster County farmland. The course winds past Amish schoolhouses and acres of picturesque farms. Strollers & mobility devices are welcome! The race is presented by Nemours Children's
- [Union County Benefit Flower/Tool Auction & Rib Dinner | Friday Night Event](https://clinicforspecialchildren.org/event/union-county-benefit-flower-tool-auction-rib-dinner-friday-night-event/) - Don’t miss the Friday Night Kickoff for the annual Union County Benefit Auction! Start the weekend early on Friday, June 6th (4 p.m. till sold out) with our signature rib dinner, plus specialized tool and flower auctions. Events are subject to change due to severe weather conditions, restrictions, or unforeseen circumstances.
- [Union County Benefit Auction](https://clinicforspecialchildren.org/event/union-county-benefit-auction-7/) - Join us for the annual Union County Benefit Auction on Saturday, June 6th! Gather at the Buffalo Valley Produce Auction in Mifflinburg, PA, to browse an incredible selection of handmade quilts, heirloom-quality furniture, garden plants, and unique wooden toys. Every bid helps provide life-changing support to families facing rare genetic disorders through the Clinic for
- [Finger Lakes Benefit Grocery/Craft Auction & Rib Dinner | Friday Night Event](https://clinicforspecialchildren.org/event/finger-lakes-benefit-grocery-craft-auction-rib-dinner-friday-night-event/) - Join us the night before the annual Finger Lakes Benefit Auction for a grocery & craft auction and rib dinner on Friday, October 2nd. The grocery & craft auction and rib dinner will start at 4:30 PM until sold out. We hope that you can join us!
- [Community Benefit Dinner](https://clinicforspecialchildren.org/event/community-benefit-dinner-7/) - Join us for our 2026 Community Benefit Dinner at the Martindale Fellowship Center in Ephrata, PA, on Tuesday, October 20th, from 4:00–7:00 p.m (or sold out). Enjoy a delicious buffet-style meal featuring oysters, shrimp, ham, coleslaw, green beans, fresh fruit cups, rolls, and soft ice cream. Dinner is donation-based, and you’re welcome to stop by anytime from 4:00 – 7:00 PM
- [Finger Lakes Benefit Auction](https://clinicforspecialchildren.org/event/finger-lakes-benefit-auction-4/) - Join us for the annual Finger Lakes Benefit Auction on Saturday, October 3rd, at the Ontario Produce Auction! This special event brings the community together to support families facing rare genetic disorders, with all proceeds directly benefiting the Clinic for Special Children and the Central PA Clinic. Discover Exceptional Goods & Local Flavors: The Auction:
- [Blair County Benefit Auction Preview & Rib Dinner | Friday Night Event](https://clinicforspecialchildren.org/event/blair-county-benefit-auction-preview-rib-dinner-friday-night-event/) - Join us the night before the annual Blair County Benefit Auction for a rib dinner & auction preview! The rib dinner and auction preview will be held on Friday, September 11th starting at 4:30 PM until sold out at Morrison's Cove Produce Auction. We hope that you can join us!
- [Blair County Benefit Auction](https://clinicforspecialchildren.org/event/blair-county-benefit-auction-7/) - Join us for the annual Blair County Benefit Auction on Saturday, September 12th! Gather with us for a day of fellowship and giving, where every bid helps provide life-changing medical care for families through the Clinic for Special Children and the Central PA Clinic. Experience Local Craftsmanship & Flavor: The Auction: Discover an incredible selection
- [Memphis, Missouri/Helping Hands Benefit Auction](https://clinicforspecialchildren.org/event/memphis-missouri-helping-hands-benefit-auction-2/) - You're invited to join us for the Memphis Benefit Auction on Saturday, August 15th, hosted at the Ed Good Family Farm! This annual event brings together the community to support Helping Hands and the Clinic for Special Children, providing vital care and hope for families facing rare genetic disorders. What'll be Featured: The Auction: Browse
- [Missouri Benefit Auction | Food & Children's Auction | Friday Night Event](https://clinicforspecialchildren.org/event/missouri-benefit-auction-food-childrens-auction-friday-night-event/) - Join us the night before the annual Memphis, Missouri/Helping Hands Benefit Auction for food and a children’s auction! A cheesesteak and salad bar dinner is planned along with several acapella groups singing. We hope that you can join us! For details: www.clinicauctions.com/memphis-mo/
- [Blooming Grove (Shiloh, OH) Benefit Auction](https://clinicforspecialchildren.org/event/blooming-grove-shiloh-oh-benefit-auction-4/) - You’re invited to join us on Saturday, July 11th, at the Blooming Grove Produce Auction in Shiloh, Ohio! This special event brings the community together to support families facing rare genetic disorders, with all proceeds benefiting the Clinic for Special Children and the DDC Clinic. What will be Featured: The Auction: Bid on stunning handmade
- [Pinecraft BBQ Fundraiser](https://clinicforspecialchildren.org/event/pinecraft-bbq-fundraiser/) - Join us on Tuesday, February 10th, at Pinecraft Park in Sarasota, FL, for a pulled pork BBQ fundraiser! All proceeds will benefit the Clinic for Special Children. The fundraiser will start at 4 PM and run until sold out! Dinners will be served on a first-come, first-served basis and by donation.
- [New Years Holiday | Office Closed](https://clinicforspecialchildren.org/event/new-years-holiday-office-closed-7/) - The CSC office will be closing early on Thursday, December 31st at 1 p.m. and will be closed all day on Friday, January 1st in observance of the New Year holiday.
- [Christmas Holiday | Office Closed](https://clinicforspecialchildren.org/event/christmas-holiday-office-closed-7/) - The CSC office will be closing early on Thursday, December 24th at 1 p.m. and will be closed all day on Friday, December 25th and Monday, December 28th in observance of the Christmas holiday.
- [Thanksgiving Holiday | Office Closed](https://clinicforspecialchildren.org/event/thanksgiving-holiday-office-closed-5/) - The CSC office will be closed in observance of the Thanksgiving holiday on Thursday, November 26th, and Friday, November 27th.
- [Labor Day | Office Closed](https://clinicforspecialchildren.org/event/labor-day-office-closed-6/) - The CSC office will be closed in observance of Labor Day on Monday, September 7th.
- [Independence Day | Office Closed](https://clinicforspecialchildren.org/event/independence-day-office-closed-3/) - The CSC office will be closed in observance of Independence Day on Friday, July 3rd.
- [Memorial Day | Office Closed](https://clinicforspecialchildren.org/event/memorial-day-office-closed-8/) - The CSC office will be closed in observance of Memorial Day on Monday, May 25th.
- [Good Friday | Office Closed](https://clinicforspecialchildren.org/event/good-friday-office-closed-7/) - The CSC office will be closed in observance of Good Friday on Friday, April 3rd.
- [2025 ExtraGive](https://clinicforspecialchildren.org/event/2025-extragive/) - The Extra Give - Lancaster County’s largest day of online giving - is on Friday, November 21st! Help the Clinic raise $75,000 in 24 hours for our mission. You don’t need to be located in Lancaster County - we have donors from all over the country who support us through the ExtraGive. Every dollar you
- [Finger Lakes Benefit Grocery/Craft Auction & Rib Dinner](https://clinicforspecialchildren.org/event/finger-lakes-benefit-grocery-craft-auction-rib-dinner/) - Join us the night before the annual Finger Lakes Benefit Auction for a grocery & craft auction and rib dinner on Friday, October 3rd. The grocery & craft auction and rib dinner will start at 4:30 pm until sold out. We hope that you can join us!
- [Finger Lakes Benefit Auction](https://clinicforspecialchildren.org/event/finger-lakes-benefit-auction-3/) - You're invited to join us for the annual Finger Lakes Benefit Auction on Saturday, October 4th, at the Ontario Produce Auction! All proceeds benefit families facing rare genetic disorders with help through the Clinic for Special Children and Central PA Clinic. Enjoy a large selection of quilts, furniture, farm supplies, hardware, tools, shrubbery, plants, collectibles,
- [Fall 2025 STABLE Training](https://clinicforspecialchildren.org/event/fall-2025-stable-training/) - We are pleased to offer another S.T.A.B.L.E. training class, a neonatal education program that focuses on post-resuscitation/ pre-transport stabilization care of sick infants. S.T.A.B.L.E. is based on a mnemonic to optimize learning and retention. It stands for the six assessment and care modules in the program: Sugar, Temperature, Airway, Blood pressure, Lab work, and Emotional support. This training class will
- [Community Benefit Dinner](https://clinicforspecialchildren.org/event/community-benefit-dinner-6/) - Join us for our 2025 Community Benefit Dinner at the Martindale Fellowship Center in Ephrata, PA, on Tuesday, October 21st, from 4:00–7:00 p.m. Enjoy a delicious buffet-style meal featuring oysters, shrimp, ham, coleslaw, green beans, fresh fruit cups, rolls, and soft ice cream. Dinner is donation-based, and you’re welcome to stop by anytime from 4:00
- [S.T.A.B.L.E. Program Training](https://clinicforspecialchildren.org/event/s-t-a-b-l-e-program-training-2/) - We are pleased to offer S.T.A.B.L.E., a neonatal education program that focuses on post-resuscitation/ pre-transport stabilization care of sick infants. S.T.A.B.L.E. is based on a mnemonic to optimize learning and retention. It stands for the six assessment and care modules in the program: Sugar, Temperature, Airway, Blood pressure, Lab work, and Emotional support. The training
- [2025 Clinic for Special Children 5k](https://clinicforspecialchildren.org/event/2025-clinic-for-special-children-5k/) - Join us on May 17, 2025! Runners, joggers, and walkers are invited to participate in the Clinic for Special Children 5k presented by Nemours Children's Health - a 3.1-mile course along rolling scenic roads, winding through Lancaster County farmland, venturing past Amish schoolhouses and acres of picturesque farms. Strollers and wheelchairs are welcome! The chip-timed
- [2025 Birth & Beyond: Tools & Advances in Maternal & Newborn Care Conference](https://clinicforspecialchildren.org/event/2025-midwifery-pearls-caring-for-the-newborn-conference/) - Birth & Beyond: Tools & Advances in Maternal & Newborn Care Conference Clinic for Special Children’s 2025 Midwife Conference Wednesday, May 7, 2025 | 9:00 a.m. to 4:00 p.m. at the Clinic for Special Children in Gordonville, PA Join us for a full-day, CME-eligible conference, which will bring together midwives who work with families at
- [Union County Benefit Auction](https://clinicforspecialchildren.org/event/union-county-benefit-auction-6/) - You're invited to join us for the annual Union County Benefit Auction on Saturday, June 7th at the Buffalo Valley Produce Auction! All proceeds benefit families facing rare genetic disorders with help through the Clinic for Special Children. Enjoy a large selection of handmade quilts, handcrafted furniture, wooden crafts, sporting goods, handmade toys, garden plants,
- [Union County Benefit Flower/Tool Auction & Rib Dinner](https://clinicforspecialchildren.org/event/union-county-benefit-flower-tool-auction-rib-dinner-3/) - Join us the night before the annual Union County Benefit Auction for a flower auction and rib dinner on Friday, June 6th! The flower auction and rib dinner will start at 4:00 p.m. and the tool auction will start at 6:00 p.m.
- [Blair County Benefit Auction Preview & Rib Dinner](https://clinicforspecialchildren.org/event/blair-county-benefit-auction-preview-rib-dinner/) - Join us the night before the Blair County Benefit Auction for a rib dinner and auction preview! The rib dinner and auction preview will start at 4:30 pm until sold out. We hope you can join us!
- [Blair County Benefit Auction](https://clinicforspecialchildren.org/event/blair-county-benefit-auction-6/) - You're invited to join us for the annual Blair County Benefit Auction on Saturday, Sept. 13th! All proceeds benefit families facing rare genetic disorders with help through the Clinic for Special Children and Central PA Clinic. Enjoy a large selection of handmade quilts, handcrafted furniture, wooden crafts, sporting goods, handmade toys, garden plants, and much,
- [Memphis, Missouri Auction | Food, Children's Auction & Fellowship Night](https://clinicforspecialchildren.org/event/memphis-missouri-auction-food-childrens-auction-fellowship-night/) - Join us the night before the annual Memphis, Missouri/Helping Hands Benefit Auction for food, fellowship, and a children's auction! A cheesesteak and salad bar dinner is planned along with several acapella groups singing. We hope that you can join us!
- [Memphis, Missouri/Helping Hands Benefit Auction](https://clinicforspecialchildren.org/event/memphis-missouri-helping-hands-benefit-auction/) - You're invited to join us for the Memphis, Missouri Benefit Auction in Memphis on Saturday, August 16th at the Ed Good Family Farm! All proceeds benefit Helping Hands and families facing rare genetic disorders with help through the Clinic for Special Children. Enjoy a large selection of tools, indoor and outdoor furniture, equipment, quilts, crafts,
- [Blooming Grove (Shiloh, Ohio) Benefit Auction](https://clinicforspecialchildren.org/event/blooming-grove-shiloh-ohio-benefit-auction-2/) - You're invited to join us for the annual Blooming Grove Benefit Auction on Saturday, July 12th at the Blooming Grove Produce Auction! All proceeds benefit families facing rare genetic disorders with help through the Clinic for Special Children and DDC Clinic. Enjoy a large selection of handmade quilts, handcrafted furniture, wooden crafts, sporting goods, handmade
- [Shippensburg Benefit Auction](https://clinicforspecialchildren.org/event/shippensburg-benefit-auction-6/) - You're invited to join us for our annual Shippensburg Benefit Auction on Saturday, June 28th at the Cumberland Valley Produce Auction! All proceeds benefit families facing rare genetic disorders with help through the Clinic for Special Children and Central PA Clinic. Enjoy a large selection of handmade quilts, handcrafted furniture, wooden crafts, sporting goods, handmade
- [Lancaster County Benefit Auction](https://clinicforspecialchildren.org/event/lancaster-county-benefit-auction-6/) - You're invited to join us for our annual Lancaster County Benefit Auction on Saturday, June 21, 2025, at the Leola Produce Auction! All proceeds benefit families facing rare genetic disorders with help through the Clinic for Special Children. Enjoy a large selection of handmade quilts, handcrafted furniture, wooden crafts, sporting goods, handmade toys, garden plants,
- [New Years Holiday | Office Closed](https://clinicforspecialchildren.org/event/new-years-holiday-office-closed-6/) - The CSC office will be closing early on Wednesday, December 31st at 1 p.m. and will be closed all day on Thursday, January 1st in observance of the New Year holiday.
- [Christmas Holiday | Office Closed](https://clinicforspecialchildren.org/event/christmas-holiday-office-closed-6/) - The CSC office will be closing early on Wednesday, December 24th at 1 p.m. and will be closed all day on Thursday, December 25th and Friday, December 26th in observance of the Christmas holiday.
- [Thanksgiving Holiday | Office Closed](https://clinicforspecialchildren.org/event/thanksgiving-holiday-office-closed-4/) - The CSC office will be closed in observance of the Thanksgiving holiday on Thursday, November 27th and Friday, November 28th.
- [Labor Day | Office Closed](https://clinicforspecialchildren.org/event/labor-day-office-closed-5/) - The CSC office will be closed in observance of Labor Day on Monday, September 1st.
- [Independence Day | Office Closed](https://clinicforspecialchildren.org/event/independence-day-office-closed-2/) - The CSC office will be closed in observance of Independence Day on Friday, July 4th.
- [Memorial Day | Office Closed](https://clinicforspecialchildren.org/event/memorial-day-office-closed-7/) - The CSC office will be closed in observance of Memorial Day on Monday, May 26th.
- [Good Friday | Office Closed](https://clinicforspecialchildren.org/event/good-friday-office-closed-6/) - The CSC office will be closed in observance of Good Friday on Friday, April 18th.
- [New Holland Food Truck Festival](https://clinicforspecialchildren.org/event/new-holland-food-truck-festival/) - We are excited to be a part of the New Holland Food Truck Festival on Friday, October 4th (11:00 AM - 7:00 PM) and Saturday, October 5th (9:00 AM - 3:00 PM) at Country Lane Gazebos (540 Hollander Road, New Holland, PA)! Several activities will benefit the Clinic, and we will have an informational table
- [2024 ExtraGive](https://clinicforspecialchildren.org/event/2024-extragive/) - You can help make an EXTRAORDINARY difference! We’re counting down the days until the Extraordinary Give on Friday, November 22 – Lancaster County’s largest day of online giving! Last year Clinic for Special Children supporters helped raise over $70,000! Every dollar you donate on November 22nd during the ExtraGive will also be stretched by a pool of more than $500,000 from
- [Community Benefit Dinner](https://clinicforspecialchildren.org/event/community-benefit-dinner-5/) - You’re invited to join us for our 2024 Community Benefit Dinner at the Martindale Fellowship Center in Ephrata, PA on Tuesday, October 1st from 4:00 p.m. until 7:00 p.m.! The buffet-style menu will feature oysters, shrimp, ham, coleslaw, green beans, fresh fruit cups, rolls, and soft ice cream. Cost is by donations only and you
- [Finger Lakes Benefit Auction](https://clinicforspecialchildren.org/event/finger-lakes-benefit-auction-2/) - Join us for the Finger Lakes Benefit Auction on Saturday, October 5th in Stanley, NY! There will be a country breakfast at 6:30 a.m. and the auction will begin at 8:00 a.m. The auction will be held at the Ontario Produce Auction (4860 Yautzy Rd, Stanley, NY 14561). Quilts, furniture, farm supplies, hardware, tools, shrubbery,
- [BaconFest sponsored by Stoltzfus Meats](https://clinicforspecialchildren.org/event/baconfest-sponsored-by-stoltzfus-meats/) - We’re elated to be a part of the first BaconFest to be held on Saturday, August 10th from 10 AM - 6 PM at the Intercourse Community Park (3730 Old Philadelphia Pike, Gordonville, PA 17529)! The park is just minutes down the street from our new location in Gordonville. The event will feature local food
- [Blooming Grove (Shiloh, OH) Benefit Auction](https://clinicforspecialchildren.org/event/blooming-grove-shiloh-oh-benefit-auction-3/) - Join us for the Shiloh, Ohio Benefit Auction on Saturday, July 13th! Indoor and outdoor furniture, plants, gift baskets, quilts, produce, equipment, tools, carriages, and more will be available for bid through live and silent auctions. Grilled chicken, noodles, fries, baked goods, fruit cups, pork sandwiches, burgers, fries, and more will be available for purchase.
- [Missouri Auction Food & Fellowship Night](https://clinicforspecialchildren.org/event/missouri-auction-food-fellowship-night-2/) - Join us the night before the annual Missouri Benefit Auction for food & fellowship! The timing of the food and fellowship event will be announced at a later date. There will be a cheesesteak and salad bar dinner and several acapella groups singing. Events are subject to change due to severe weather conditions,
- [Missouri Benefit Auction](https://clinicforspecialchildren.org/event/missouri-benefit-auction-5/) - Join us for the Missouri Benefit Auction in Memphis on Saturday, August 17th! The airplane candy drop will start at 9:30 a.m. and the auction will start at 10:15 a.m. Tools, indoor and outdoor furniture, equipment, quilts, crafts, trees, flowers, theme baskets, gift certificates, toys, and much more will be up for bid through live
- [Blair County Rib Dinner & Auction Preview](https://clinicforspecialchildren.org/event/blair-county-rib-dinner-auction-preview-3/) - Join us the night before the annual Blair County Benefit Auction for a rib dinner and auction preview! The rib dinner and auction preview will start at 4:30 p.m. and will end when sold out. Events are subject to change due to severe weather conditions, restrictions, or unforeseen circumstances.
- [Blair County Benefit Auction](https://clinicforspecialchildren.org/event/blair-county-benefit-auction-5/) - Join us for the Blair County Benefit Auction on Saturday, September 14th! Handmade quilts, handcrafted furniture, toys, equipment, flowers, carriages, produce, baskets, and more will be up for bid in both live and silent auctions. Sandwiches, pretzels, french fries, hot dogs, household items, ice cream, and more fresh food will be available for purchase.
- [Finger Lakes Benefit Tool/Craft Auction & Rib Dinner](https://clinicforspecialchildren.org/event/finger-lakes-benefit-tool-craft-auction-rib-dinner/) - Join us the night before the annual Finger Lakes Benefit Auction for a tool & craft auction and rib dinner on Friday, October 4th! The tool/craft auction and rib dinner will start at 4:30 p.m. We hope to see you there!
- [Shippensburg Dinner](https://clinicforspecialchildren.org/event/shippensburg-dinner/) - Join us for a dinner on Friday, January 26, 2024, from 6:00–8:00 p.m. at the Slate Ridge Mennonite School in Newville, PA (950 Greenspring Rd, Newville, PA 17241). The evening will include a buffet-style BBQ dinner, talks by Clinic for Special Children physicians and staff, updates on the Clinic’s new building project, and opportunities for
- [Pinecraft Community Dinner](https://clinicforspecialchildren.org/event/pinecraft-community-dinner/) - You're invited to join us for a community dinner on Tuesday, February 13, 2024, at Pinecraft Park in Sarasota, FL (1420 Gilbert Ave, Sarasota, FL 34239). The evening will feature a picnic-style pulled pork BBQ dinner starting at 4:30 pm and will be served until sold out. Meals will be available by donation via cash
- [Shippensburg Benefit Auction](https://clinicforspecialchildren.org/event/shippensburg-benefit-auction-5/) - Join us for the 2024 Shippensburg Benefit Auction on Saturday, June 22nd! A breakfast buffet begins at 7:00 a.m., the auction at 8:30 a.m., and quilts will be auctioned around noon. Nursery stock, handmade quilts, furniture, commemorative items, equipment, tools, and more will be up for bid through live and silent auctions. Freshly made
- [Lancaster County Benefit Auction](https://clinicforspecialchildren.org/event/lancaster-county-benefit-auction-5/) - Join us at the 2024 Lancaster County Benefit Auction on Saturday, June 15th! Breakfast starts at 6:30 a.m., the auction begins at 8:30 a.m., remarks by Clinic staff around 11:00 a.m., and quilts will be auctioned at approximately noon. Carriages & carts, quilts, household furniture and items, farm supplies, hardware, tools, outdoor furniture, shrubbery,
- [Union County Benefit Auction](https://clinicforspecialchildren.org/event/union-county-benefit-auction-5/) - Join us at the 2024 Union County Benefit Auction on Saturday, June 1st! Breakfast to start at 7:00 a.m. and the auction will begin at 8:15 a.m. Many items will be up for live and silent auction including quilts, furniture, plants, gift baskets, tools, toys, gift cards, lawn furniture, household items, farm-related items, & more!
- [Union County Benefit Flower/Tool Auction & Rib Dinner](https://clinicforspecialchildren.org/event/union-county-benefit-flower-tool-auction-rib-dinner-2/) - Join us the night before the annual Union County Benefit Auction for a flower auction and rib dinner on Friday, May 31! The flower auction and rib dinner will start at 4:00 p.m. and the tool auction will start at 6:00 p.m. Further details to be released closer to the event date.
- [Office Closed | New Years Holiday](https://clinicforspecialchildren.org/event/office-closed-new-years-holiday/) - The CSC office will be closing early on Tuesday, December 31st at 1 p.m. and will be closed all day on Wednesday, January 1st in observance of the New Year holiday.
- [Office Closed | Christmas Holiday](https://clinicforspecialchildren.org/event/office-closed-christmas-holiday/) - The CSC office will be closing early on Tuesday, December 24th at 1 p.m. and will be closed all day on Wednesday, December 25th and Thursday, December 26th in observance of the Christmas holiday.
- [Office Closed | Thanksgiving Holiday](https://clinicforspecialchildren.org/event/office-closed-thanksgiving-holiday/) - The CSC office will be closed in observance of the Thanksgiving holiday on Thursday, November 28th and Friday, November 29th.
- [Office Closed | Labor Day](https://clinicforspecialchildren.org/event/office-closed-labor-day/) - The CSC office will be closed in observance of Labor Day on Monday, September 2nd.
- [Office Closed | 4th of July](https://clinicforspecialchildren.org/event/office-closed-4th-of-july/) - The CSC office will be closed in observance of Independence Day on Thursday, July 4th.
- [Memorial Day | Office Closed](https://clinicforspecialchildren.org/event/memorial-day-office-closed-6/) - The CSC office will be closed in observance of the Memorial Day holiday on Monday, May 27th.
- [Good Friday | Office Closed](https://clinicforspecialchildren.org/event/good-friday-office-closed-5/) - The CSC office will be closed in observance of Good Friday on Friday, March 29th.
- [2023 Extraordinary Give](https://clinicforspecialchildren.org/event/7801/) - You can help make an EXTRAORDINARY difference! We’re counting down the days until the Extraordinary Give on Friday, November 17 – Lancaster County’s largest day of online giving! Last year Clinic for Special Children supporters helped raise over $53,000! Every dollar you donate on November 17th during the ExtraGive will also be stretched by a pool of more than $500,000 from
- [Finger Lakes Benefit Auction](https://clinicforspecialchildren.org/event/finger-lakes-benefit-auction/) - Join us for the Finger Lakes Benefit Auction on Saturday, October 7th in Stanley, NY! The auction will be held at the Ontario Produce Auction (4860 Yautzy Rd, Stanley, NY 14561). Quilts, furniture, farm supplies, hardware, tools, shrubbery, plants, collectibles, toys, and more will be up for bid. Delicious food including pizza, french fries, ice
- [Clinic for Special Children 5k](https://clinicforspecialchildren.org/event/clinic-for-special-children-5k-2/) - REGISTER TODAY! Join us for the 6th annual Clinic for Special Children 5k on Saturday, September 16th from 9:00 a.m. – 11:00 a.m presented by Nemours Children’s Health. Runners, joggers, and walkers are invited to participate in the Clinic for Special Children 5k – a 3.1-mile course along scenic country roads, winding through Lancaster County farmland,
- [Community Benefit Dinner](https://clinicforspecialchildren.org/event/community-benefit-dinner-4/) - You’re invited to join us for our 2023 Community Benefit Dinner at the Martindale Fellowship Center in Ephrata, PA on Tuesday, September 26th from 4:00 p.m. until 7:30 p.m.! The buffet-style menu will feature oysters, shrimp, ham, coleslaw, green beans, fresh fruit cups, rolls, and soft ice cream. Cost is by donations only and you
- [Union County Benefit Auction](https://clinicforspecialchildren.org/event/union-county-benefit-auction-4/) - Join us at the 2023 Union County Benefit Auction on Saturday, June 3rd! Breakfast to start at 7:00 a.m. and the auction will begin at 8:15 a.m. Many items will be up for live and silent auction including quilts, furniture, plants, gift baskets, tools, toys, gift cards, lawn furniture, household items, farm-related items, & more!
- [2023 Midwifery Pearls: Caring for the Newborn Conference](https://clinicforspecialchildren.org/event/2023-midwifery-pearls-caring-for-the-newborn-conference/) - Midwifery Pearls: Caring for the Newborn Clinic for Special Children's 2023 Midwife Conference Wednesday, May 31, 2023 | 8:00 a.m. to 4:00 p.m. at Strasburg Mennonite Church in Strasburg, PA *Advance registration deadline is Wednesday, May 24* This event is designed to provide midwives with the most up-to-date information, emphasizing recent developments in midwifery healthcare
- [Missouri Benefit Auction](https://clinicforspecialchildren.org/event/missouri-benefit-auction-4/) - Join us for the Missouri Benefit Auction in Memphis on Saturday, August 19th! The airplane candy drop will start at 9:30 a.m. and the auction will start at 10:15 a.m. Tools, indoor and outdoor furniture, equipment, quilts, crafts, trees, flowers, theme baskets, gift certificates, toys, and much more will be up for bid through live
- [Union County Benefit Flower/Tool Auction & Rib Dinner](https://clinicforspecialchildren.org/event/union-county-benefit-flower-tool-auction-rib-dinner/) - Join us the night before the annual Union County Benefit Auction for a flower auction and rib dinner on Friday, June 2nd! The flower auction and rib dinner will start at 4:00 p.m. and the tool auction will start at 6:00 p.m. Further details to be released closer to the event date.
- [Missouri Auction Food & Fellowship Night](https://clinicforspecialchildren.org/event/missouri-food-fellowship-night/) - Join us the night before the annual Missouri Benefit Auction for food & fellowship! The timing of the food and fellowship event will be announced at a later date. There will be a cheesesteak and salad bar dinner and several acapella groups singing. Events are subject to change due to severe weather conditions,
- [Blair County Benefit Auction](https://clinicforspecialchildren.org/event/blair-county-benefit-auction-4/) - Join us for the Blair County Benefit Auction on Saturday, September 9th! Handmade quilts, handcrafted furniture, toys, equipment, flowers, carriages, produce, baskets, and more will be up for bid in both live and silent auctions. Sandwiches, pretzels, french fries, hot dogs, household items, ice cream, and more fresh food will be available for purchase. There
- [Blair County Rib Dinner & Auction Preview](https://clinicforspecialchildren.org/event/blair-county-rib-dinner-auction-preview-2/) - Join us the night before the annual Blair County Benefit Auction for a rib dinner and auction preview! The rib dinner and auction preview will start at 4:30 p.m and will end when sold out. Events are subject to change due to severe weather conditions, restrictions, or unforeseen circumstances.
- [Blooming Grove (Shiloh, OH) Benefit Auction](https://clinicforspecialchildren.org/event/blooming-grove-shiloh-oh-benefit-auction-2/) - Join us for the Shiloh, Ohio Benefit Auction on Saturday, July 8th! Indoor and outdoor furniture, plants, gift baskets, quilts, produce, equipment, tools, carriages, and more will be available for bid through live and silent auctions. Grilled chicken, noodles, fries, baked goods, fruit cups, pork sandwiches, burgers, fries, and more will be available for purchase.
- [Shippensburg Benefit Auction](https://clinicforspecialchildren.org/event/shippensburg-benefit-auction-4/) - Join us for the Shippensburg Benefit Auction on Saturday, June 24th! A breakfast buffet begins at 7:00 a.m., the auction at 8:30 a.m., and quilts auctioned around noon. Nursery stock, handmade quilts, furniture, commemorative items, equipment, tools, and more will be up for bid through live and silent auctions. Freshly made food including donuts, fruit
- [Lancaster County Benefit Auction](https://clinicforspecialchildren.org/event/lancaster-county-benefit-auction-4/) - Join us at the 2023 Lancaster County Benefit Auction on Saturday, June 17th! Breakfast starts at 6:30 a.m., the auction begins at 8:30 a.m., remarks by Clinic staff around 11:00 a.m. and quilts auctioned at approximately noon. Carriages & carts, quilts, household furniture and items, farm supplies, hardware, tools, outdoor furniture, shrubbery, plants, collectibles, toys,
- [MSUD Family Day](https://clinicforspecialchildren.org/event/msud-family-day/) - The Clinic for Special Children is hosting a family day for families with Maple Syrup Urine Disease (MSUD) on November 3rd at the Strasburg Mennonite Church. Experts will share updates related to research and clinical care. To attend, please RSVP with the Clinic by calling (717) 687-9407. RSVP is required to attend. There is no
- [Plain Community Clinical Education Collaboration Conference](https://clinicforspecialchildren.org/event/plain-community-clinical-education-collaboration-conference/) - Join us for the 2nd annual Plain Community Clinical Education Collaboration Conference! This conference is organized by members of the Clinic for Special Children, Penn Medicine Lancaster General Health, and WellSpan Health. The half-day conference will be held on Saturday, October 22nd from 8:00 am - 12:15pm. The conference is in-person or virtual, does not
- [Amish Research Clinic Conference | Genetics in the Plain Community  and  the Facts about Lyme Disease](https://clinicforspecialchildren.org/event/amish-research-clinic-conference-genetics-in-the-plain-community-and-the-facts-about-lyme-disease/) - You are cordially invited to a one-day conference about genetics and its effects on health and healing among the Amish and Mennonite communities, as well as Lyme Disease—facts, myths, and treatment options. Registration is required by September 16th. This educational program is free and will include the science about genes, the molecules that help make
- [Plain Community Clinical Educational Series | Join Us Virtually!](https://clinicforspecialchildren.org/event/plain-community-clinical-educational-series-join-us-virtually-6/) - A new educational series tailored for physicians serving the Plain community is here! This bimonthly, virtual learning series will occur every other month on the first Friday from noon – 1 p.m. The talk series is organized by a collaboration of WellSpan Health, the Clinic for Special Children, and Penn Medicine Lancaster General Health. Talks
- [Plain Community Clinical Educational Series | Join Us Virtually!](https://clinicforspecialchildren.org/event/plain-community-clinical-educational-series-join-us-virtually-5/) - A new educational series tailored for physicians serving the Plain community is here! This bimonthly, virtual learning series will occur every other month on the first Friday from noon – 1 p.m. The talk series is organized by a collaboration of WellSpan Health, the Clinic for Special Children, and Penn Medicine Lancaster General Health. September
- [2022 Clinic for Special Children 5k](https://clinicforspecialchildren.org/event/2022-clinic-for-special-children-5k/) - REGISTER TODAY! Join us for the 5th annual Clinic for Special Children 5k on Saturday, September 17th from 9:00 a.m. – 11:00 a.m presented by Nemours Children's Health. Runners, joggers, and walkers are invited to participate in the Clinic for Special Children 5k – a 3.1-mile course along scenic country roads, winding through Lancaster County
- [2022 Extraordinary Give](https://clinicforspecialchildren.org/event/2022-extraordinary-give/) - You can help make an EXTRAORDINARY difference! We’re counting down the days until the Extraordinary Give on Friday, November 18 – Lancaster County’s largest day of online giving! Last year Clinic for Special Children supporters helped raise over $110,000! Every dollar you donate on November 18th during the ExtraGive will also be stretched by a pool of more than $500,000 from
- [Community Benefit Dinner](https://clinicforspecialchildren.org/event/community-benefit-dinner-3/) - You’re invited to join us for our 2022 Community Benefit Dinner at the Martindale Fellowship Center in Ephrata, PA on Wednesday, October 12th from 4:00 p.m. until 7:30 p.m.! The buffet-style menu will feature oysters, shrimp, ham, coleslaw, green beans, fresh fruit cups, rolls and soft ice cream. Cost is by donations only and you
- [Plain Community Clinical Educational Series | Join Us Virtually!](https://clinicforspecialchildren.org/event/plain-community-clinical-educational-series-join-us-virtually-4/) - A new educational series tailored for physicians serving the Plain community is here! This bimonthly, virtual learning series will occur every other month on the first Friday from noon – 1 p.m. The talk series is organized by a collaboration of WellSpan Health, the Clinic for Special Children, and Penn Medicine Lancaster General Health. The
- [SCID Family Day](https://clinicforspecialchildren.org/event/scid-family-day/) - Clinic families with a history of SCID are invited to join us for the SCID Family Day on Thursday, July 7th at the Strasburg Mennonite Church in Strasburg, PA. Below is the agenda for the day. If interested in attending or if you need more information, please contact us at queries@clinicforspecialchildren.org or call 717-687-9407. This
- [New Years Holiday | Office Closed](https://clinicforspecialchildren.org/event/new-years-holiday-office-closed-5/) - The CSC office will be closing early on Friday, December 29th at 1 p.m. and will be closed all day on Monday, January 1st in observance of the New Years holiday.
- [Christmas Holiday | Office Closed](https://clinicforspecialchildren.org/event/christmas-holiday-office-closed-5/) - The CSC office will be closing early on Friday, December 22nd at 1 p.m. and will be closed all day on Monday, December 25th and Tuesday, December 26th in observance of the Christmas holiday.
- [Thanksgiving Holiday | Office Closed](https://clinicforspecialchildren.org/event/thanksgiving-holiday-office-closed-3/) - The CSC office will be closed in observance of the Thanksgiving holiday on Thursday, November 23rd and Friday, November 24th.
- [Labor Day | Office Closed](https://clinicforspecialchildren.org/event/labor-day-office-closed-4/) - The CSC office will be closed in observance of Labor Day on Monday, September 4th.
- [4th of July Holiday | Office Closed](https://clinicforspecialchildren.org/event/4th-of-july-holiday-office-closed/) - The CSC office will be closed in observance of Independence Day on Tuesday, July 4th.
- [Memorial Day | Office Closed](https://clinicforspecialchildren.org/event/memorial-day-office-closed-5/) - The CSC office will be closed in observance of Memorial Day on Monday, May 29th.
- [Good Friday | Office Closed](https://clinicforspecialchildren.org/event/good-friday-office-closed-4/) - The CSC office will be closed in observance of Good Friday on Friday, April 7th.
- [Finger Lakes Benefit Auction *NEW*](https://clinicforspecialchildren.org/event/new-york-benefit-auction-new/) - Join us for the first Finger Lakes Benefit Auction on Saturday, October 1st in Stanley, NY! The auction will be held at the Ontario Produce Auction (4860 Yautzy Rd, Stanley, NY 14561). More details to be released when available. For more information, visit www.ClinicAuctions.org. Events are subject to change due to severe weather conditions, restrictions,
- [Plain Community Clinical Educational Series | Join Us Virtually!](https://clinicforspecialchildren.org/event/plain-community-clinical-educational-series-join-us-virtually-3/) - A new educational series tailored for physicians serving the Plain community is here! This bimonthly, virtual learning series will occur every other month on the first Friday from noon – 1 p.m. The talk series is organized by a collaboration of WellSpan Health, the Clinic for Special Children, and Penn Medicine Lancaster General Health. The
- [Lancaster County Benefit Auction](https://clinicforspecialchildren.org/event/lancaster-county-benefit-auction-3/) - Join us at the 2022 Lancaster County Benefit Auction on Saturday, June 18th! Breakfast starts at 6:30 a.m., the auction begins at 8:30 a.m., remarks by Clinic staff around 11:00 a.m. and quilts auctioned at approximately noon. Carriages & carts, quilts, household furniture and items, farm supplies, hardware, tools, outdoor furniture, shrubbery, plants, collectibles, toys,
- [Union County Benefit Flower/Tool Auction & Rib Dinner](https://clinicforspecialchildren.org/event/union-county-benefit-flower-auction-rib-dinner/) - Join us the night before the annual Union County Benefit Auction for a flower auction and rib dinner! The flower auction and rib dinner will start at 4:00 p.m. and the tool auction will start at 6:00 p.m. Further details to be released closer to the event date. Events are subject to change due
- [New Years Holiday | Office Closed](https://clinicforspecialchildren.org/event/new-years-holiday-office-closed-4/) - The CSC office will be closing early on Friday, December 30th at 1 p.m. and will be closed all day on Monday, January 2nd in observance of the New Years holiday.
- [Christmas Holiday | Office Closed](https://clinicforspecialchildren.org/event/christmas-holiday-office-closed-4/) - The CSC office will be closing early on Friday, December 23rd at 1 p.m. and will be closed all day on Monday, December 26th and Tuesday, December 27th in observance of the Christmas holiday.
- [Blair County Rib Dinner & Auction Preview](https://clinicforspecialchildren.org/event/blair-county-rib-dinner-auction-preview/) - Join us the night before the annual Blair County Benefit Auction for a rib dinner and auction preview! The rib dinner and auction preview will start at 4:30 p.m. Events are subject to change due to severe weather conditions, restrictions, or unforeseen circumstances.
- [Missouri Auction Food & Fellowship Night](https://clinicforspecialchildren.org/event/missouri-auction-food-fellowship-night/) - Join us the night before the annual Missouri Benefit Auction for food & fellowship! The night of food and fellowship will start at 5:00 p.m. and will end around 8:00 p.m. There will be a cheesesteak and salad bar dinner and several acapella groups singing. Events are subject to change due to severe
- [Plain Community Clinical Educational Series | Join Us Virtually!](https://clinicforspecialchildren.org/event/plain-community-clinical-educational-series-join-us-virtually-2/) - A educational series tailored for physicians serving the Plain community is here! This bimonthly, virtual learning series will occur every other month on the first Friday from noon – 1 p.m. The talk series is organized by a collaboration of WellSpan Health, the Clinic for Special Children, and Penn Medicine Lancaster General Health. The talk
- [Blair County Benefit Auction](https://clinicforspecialchildren.org/event/blair-county-benefit-auction-3/) - Join us for the Blair County Benefit Auction on Saturday, September 10th! Handmade quilts, handcrafted furniture, toys, equipment, flowers, carriages, produce, baskets, and more will be up for bid in both live and silent auctions. Sandwiches, pretzels, french fries, hot dogs, household items, ice cream, and more fresh food will be available for purchase. To
- [Missouri Benefit Auction](https://clinicforspecialchildren.org/event/missouri-benefit-auction-3/) - Join us for the Missouri Benefit Auction in Memphis on Saturday, August 20th! A candy drop by airplane will begin around 9:30 a.m., auction around 10:15 a.m. and food serving to start around 10:30 a.m. Tools, indoor and outdoor furniture, equipment, quilts, crafts, trees, flowers, theme baskets, gift certificates, toys, and much more will be
- [Blooming Grove (Shiloh, Ohio) Benefit Auction](https://clinicforspecialchildren.org/event/blooming-grove-shiloh-ohio-benefit-auction/) - Join us for the Shiloh, Ohio Benefit Auction on Saturday, July 9th! Indoor and outdoor furniture, plants, gift baskets, quilts, produce, equipment, tools, carriages, and more will be available for bid through live and silent auctions. Grilled chicken, noodles, fries, baked goods, fruit cups, pork sandwiches, burgers, fries, and more will be available for purchase.
- [Shippensburg Benefit Auction](https://clinicforspecialchildren.org/event/shippensburg-benefit-auction-3/) - Join us for the Shippensburg Benefit Auction on Saturday, June 25th! A breakfast buffet begins at 7:00 a.m., the auction at 8:30 a.m., and quilts auctioned around noon. Nursery stock, handmade quilts, furniture, commemorative items, equipment, tools, and more will be up for bid through live and silent auctions. Freshly made food including donuts, fruit
- [Union County Benefit Auction](https://clinicforspecialchildren.org/event/union-county-benefit-auction-3/) - Join us at the 2022 Union County Benefit Auction on Saturday, June 4th! Breakfast buffet starts at 7:00 a.m., auction begins at 8:30 a.m. and quilts will be sold at approximately noon. Many items will be up for live and silent auction including quilts, furniture, plants, gift baskets, tools, toys, gift cards, lawn furniture, household
- [Christmas Holiday | Office Closed](https://clinicforspecialchildren.org/event/christmas-holiday-office-closed-3/) - The CSC office will be closing early on Thursday, December 23rd at 1 p.m. and will be closed all day on Friday, December 24th (Christmas Eve) and Monday, December 27th (Christmas Day) in observance of the Christmas holiday.
- [Thanksgiving Holiday | Office Closed](https://clinicforspecialchildren.org/event/thanksgiving-holiday-office-closed-2/) - The CSC office will be closed in observance of the Thanksgiving holiday on Thursday, November 24th and Friday, November 25th.
- [Labor Day | Office Closed](https://clinicforspecialchildren.org/event/labor-day-office-closed-3/) - The CSC office will be closed in observance of Labor Day on Monday, September 5th.
- [Independence Day | Office Closed](https://clinicforspecialchildren.org/event/independence-day-office-closed/) - The CSC office will be closed in observance of Independence Day on Monday, July 4th.
- [Memorial Day | Office Closed](https://clinicforspecialchildren.org/event/memorial-day-office-closed-4/) - The CSC office will be closed in observance of Memorial Day on Monday, May 30th
- [Good Friday | Office Closed](https://clinicforspecialchildren.org/event/good-friday-office-closed-3/) - The CSC office will be closed in observance of Good Friday on Friday, April 15th.
- [New Years Holiday | Office Closed](https://clinicforspecialchildren.org/event/new-years-holiday-office-closed-3/) - The CSC office will be closing early on Friday, December 31st at 1 p.m. and will be closed all day on Monday, January 3rd in observance of the New Years holiday.
- [Plain Community Clinical Educational Series | Join Us Virtually!](https://clinicforspecialchildren.org/event/plain-community-clinical-educational-series-join-us-virtually/) - A new educational series tailored for physicians serving the Plain community is here! This bimonthly, virtual learning series will occur every other month on the first Friday from noon – 1 p.m. The talk series is organized by a collaboration of WellSpan Health, the Clinic for Special Children, and Penn Medicine Lancaster General Health. The
- [2021 Extraordinary Give](https://clinicforspecialchildren.org/event/2021-extraordinary-give/) - You can help make an EXTRAORDINARY difference! We’re counting down the days until the Extraordinary Give on Friday, November 19th – Lancaster County’s largest day of online giving! Last year Clinic for Special Children supporters helped raise over $55,000! We will have $25,000 in matching dollars this year thanks to generous sponsors! Help us unlock these matching dollars and make
- [2021 Clinic for Special Children 5k](https://clinicforspecialchildren.org/event/2021-clinic-for-special-children-5k/) - Join us for the 4th annual Clinic for Special Children 5k on Saturday, September 18th from 9:00 a.m. - 11:00 a.m. presented by Nemours Children's Health System! Runners, joggers, and walkers are invited to participate in the Clinic for Special Children 5k - a 3.1-mile course along scenic country roads, winding through Lancaster County farmland,
- [Memorial Day Holiday | Office Closed](https://clinicforspecialchildren.org/event/memorial-day-holiday-office-closed/) - The CSC office will be closed in observance of Memorial Day on Monday, May 31st.
- [Labor Day Holiday | Office Closed](https://clinicforspecialchildren.org/event/labor-day-holiday-office-closed/) - The CSC office will be closed in observance of Labor Day on Monday, September 6th.
- [Thanksgiving Holiday | Office Closed](https://clinicforspecialchildren.org/event/thanksgiving-holiday-office-closed/) - The CSC office will be closed in observance of the Thanksgiving holiday on Thursday, November 25th and Friday, November 26th.
- [Independence Day Holiday | Office Closed](https://clinicforspecialchildren.org/event/independence-day-holiday-office-closed/) - The CSC office will be closed in observance of Independence Day on Monday, July 5th.
- [Memorial Day | Office Closed](https://clinicforspecialchildren.org/event/memorial-day-office-closed-3/) - The CSC office will be closed in observance of Memorial Day on Monday, May 30th.
- [Good Friday | Office Closed](https://clinicforspecialchildren.org/event/good-friday-office-closed-2/) - The CSC office will be closed in observance of Good Friday on Friday, April 2nd.
- [Thanksgiving | Office Closed](https://clinicforspecialchildren.org/event/thanksgiving-office-closed-2/) - The CSC office will be closed in observance of the Thanksgiving holiday on Thursday, November 26th and Friday, November 27th.
- [2020 Extraordinary Give](https://clinicforspecialchildren.org/event/2020-extraordinary-give/) - The countdown to the 2020 Extraordinary Give is on! Will you help us reach our goal of $70,000 raised for the Clinic in 24 hours? On Friday, November 20, 2020 donations will be accepted from 12 midnight - 11:59 PM as part of Lancaster County's largest day of online giving. Donating is simple. On Friday, November
- [Community Benefit Take-Out Dinner](https://clinicforspecialchildren.org/event/community-benefit-dinner-2/) - You're invited to join us for our 2020 Community Benefit Take-Out Dinner at the Martindale Fellowship Center in Ephrata, PA! Join us to support the Clinic for Special Children, a medical home for children and adults with rare genetic disorders. The buffet-style menu will feature oysters, shrimp, ham, coleslaw, green beans, fresh fruit cups, rolls
- [New Years Holiday | Office Closed](https://clinicforspecialchildren.org/event/new-years-holiday-office-closed-2/) - The CSC office will be closing early on Thursday, December 31st and all day on Friday, January 1st in observance of the New Years holiday.
- [Christmas Holiday | Office Closed](https://clinicforspecialchildren.org/event/christmas-holiday-office-closed-2/) - The CSC office will be closing early on Thursday, December 24th (Christmas Eve) from 1 p.m. - 5 p.m and will be closed all day on Friday, December 25th (Christmas Day) and Monday, December 28th in observance of the Christmas holiday.
- [Swing Fore the Kids | Crain Family Foundation](https://clinicforspecialchildren.org/event/swing-fore-the-kids/) - The Crain Family Foundation is hosting their fourth annual Swing Fore the Kids fundraising event at Topgolf! Meet and play with major league baseball players, past and present, fans, family and friends already here for Spring Training, enjoy great food, drinks, and company, AND support an amazing cause! The event will be held on Thursday,
- [2019 Extraordinary Give | CSC Whoopie Pie Toss!](https://clinicforspecialchildren.org/event/2019-extraordinary-give-csc-whoopie-pie-toss/) - Come join us in Lancaster City's Penn Square (right by Central Market) to talk with our staff and take home a FREE whoopie pie! The countdown to the 2019 Extraordinary Give is on! Will you help us reach our goal of $70,000 raised for the Clinic in 24 hours? On Friday, November 22, 2019 donations
- [The Night Before Christmas | Strasburg Rail Road](https://clinicforspecialchildren.org/event/the-night-before-christmas-strasburg-rail-road/) - A Christmas Classic Train Benefiting the Clinic! All aboard for Strasburg Rail Road’s Night Before Christmas Train! Passengers aboard this train enjoy the childlike anticipation of Christmas Eve, recall the old-fashioned nostalgia of Christmas past, and delight in the magic of an authentic steam train during the holidays. Returning again this year, the popular Night Before Christmas
- [Memorial Day | Office Closed](https://clinicforspecialchildren.org/event/memorial-day-office-closed-2/) - The CSC office will be closed in observance of Memorial Day on Monday, May 25th..
- [Labor Day | Office Closed](https://clinicforspecialchildren.org/event/labor-day-office-closed-2/) - The CSC office will be closed in observance of Labor Day on Monday, September 7th.
- [Good Friday](https://clinicforspecialchildren.org/event/good-friday/) - The CSC office will be closed in observance of Good Friday on Friday, April 10th.
- [Community Benefit Dinner](https://clinicforspecialchildren.org/event/community-benefit-dinner/) - You're invited to join us for our 2019 Community Benefit Dinner at the Martindale Fellowship Center in Ephrata, PA! Join us to support and learn about the Clinic for Special Children, a medical home for children and adults with rare genetic disorders. Throughout the evening, there will be talks by CSC staff members on cost
- [2019 Clinic for Special Children 5k](https://clinicforspecialchildren.org/event/2019-clinic-for-special-children-5k/) - Our 2nd annual Clinic for Special Children 5k is on Saturday, September 21st at the Clinic for Special Children! There will be a kid's fun run, bake sale, silent auction, and children's crafts planned for the day! There will also be egg breakfast sandwiches available for sale! Proceeds support the mission of Clinic for Special
- [2019 Lancaster Fall/Winter WeeUsables Event](https://clinicforspecialchildren.org/event/2019-lancaster-fall-winter-weeusables-event/) - We're excited to be the benefiting charity for the 2019 Lancaster Fall/Winter WeeUsables Event! Join us on Saturday, September 7th from 5:30-6:30pm for the Stuff-A-Bag event, where all proceeds will benefit CSC! Please see below for the full schedule: Wed., September 4th * 3pm-8pm First-Time Parents, Grandparents & Foster Parents* Pre-Sale. Must be pre-registered to
- [Missouri Benefit Auction](https://clinicforspecialchildren.org/event/missouri-benefit-auction-2/) - *New Venue this Year* Delicious food, baked goods, and bidding- there will be many eye-catching items available for purchase!
- [4th of July Holiday | Office Closed 7/4 & 7/5](https://clinicforspecialchildren.org/event/4th-of-july-office-closed/) - The CSC office will be closed in observance of the 4th of July on Thursday, July 4th.
- [CSC Goat Yoga Fundraiser](https://clinicforspecialchildren.org/event/csc-goat-yoga-fundraiser/) - Do you love yoga (and goats)? We are having a Goat Yoga class fundraiser for the Clinic on Tuesday, June 25th at 7pm at the Goat Yoga at the Amish Farm and House. Tickets are going fast, click below to reserve yours today! ? https://www.amishfarmandhouse.com/on-the-farm/goat-yoga/
- [Union County Benefit Auction Flower Auction & Rib Dinner](https://clinicforspecialchildren.org/event/union-county-benefit-auction-flower-auction-rib-dinner/) - Enjoy a rib dinner and flower sale the night before the Union County benefit auction!
- [The Great Train Robbery | Strasburg Rail Road](https://clinicforspecialchildren.org/event/the-great-train-robbery-strasburg-rail-road-2/) - A Bonnie & Clyde Adventure Benefiting the Clinic! Travel back in time with the Strasburg Railroad to 1934 for an adventurous 45-minute ride on the rails through scenic Amish Country. An A-list celebrity is planning to travel in style at the railroad complete with high fashion, sparkling jewels and bountiful riches. However, there have been
- [The Great Train Robbery | Strasburg Rail Road](https://clinicforspecialchildren.org/event/the-great-train-robbery-strasburg-rail-road-3/) - A Bonnie & Clyde Adventure Benefiting the Clinic! Travel back in time with the Strasburg Railroad to 1934 for an adventurous 45-minute ride on the rails through scenic Amish Country. An A-list celebrity is planning to travel in style at the railroad complete with high fashion, sparkling jewels and bountiful riches. However, there have been
- [The Great Train Robbery | Strasburg Rail Road](https://clinicforspecialchildren.org/event/the-great-train-robbery-strasburg-rail-road/) - A Bonnie & Clyde Adventure Benefiting the Clinic! Travel back in time with the Strasburg Railroad to 1934 for an adventurous 45-minute ride on the rails through scenic Amish Country. An A-list celebrity is planning to travel in style at the railroad complete with high fashion, sparkling jewels and bountiful riches. However, there have been
- [Swing Fore the Kids | Crain Family Foundation](https://clinicforspecialchildren.org/event/swing-fore-the-kids-crain-family-foundation/) - The Crain Family Foundation is hosting their third annual Swing fore the Kids Fundraising event at Topgolf! Meet and play with major league baseball players, past and present, fans, family and friends already here for Spring Training, enjoy great food, drinks, and company, AND support an amazing cause! The event will be held on Thursday, February 28,
- [30th Anniversary Celebration Event](https://clinicforspecialchildren.org/event/30th-anniversary-celebration-event/) - Join us for a FREE drop-in event at the Clinic commemorating our 30th Anniversary! All patient families, and collaborators of the Clinic are invited to attend. Walk through the Clinic and experience how the Clinic was established, what we are working on, and where our future is headed. We will have free food and refreshments,
- [New Years Holiday | Office Closed](https://clinicforspecialchildren.org/event/new-years-holiday-office-closed/) - The CSC office will be closing early on Tuesday, December 31st and all day on Wednesday, January 1st in observance of the New Years holiday.
- [Christmas Holiday | Office Closed](https://clinicforspecialchildren.org/event/christmas-holiday-office-closed/) - The CSC office will be closing early on Tuesday, December 24th (Christmas Eve) from 1 p.m. - 5 p.m and will be closed all day on Wednesday, December 25th (Christmas Day) and Thursday, December 26th in observance of the Christmas holiday.
- [Thanksgiving | Office Closed](https://clinicforspecialchildren.org/event/thanksgiving-office-closed/) - The CSC office will be closed in observance of the Thanksgiving holiday on Thursday, November 28th and Friday, November 29th.
- [Labor Day | Office Closed](https://clinicforspecialchildren.org/event/labor-day-office-closed/) - The CSC office will be closed in observance of Labor Day on Monday, September 2nd.
- [Memorial Day | Office Closed](https://clinicforspecialchildren.org/event/memorial-day-office-closed/) - The CSC office will be closed in observance of Memorial Day on Monday, May 27th.
- [Good Friday | Office Closed](https://clinicforspecialchildren.org/event/good-friday-office-closed/) - The CSC office will be closed in observance of Good Friday on Friday, April 19th.
- [Blair County Benefit Auction](https://clinicforspecialchildren.org/event/blair-county-benefit-auction/) - Handmade quilts, handcrafted furniture, wooden crafts, sporting goods, handmade toys, & garden plants will be up for auction!
- [Blooming Grove (Shiloh, OH) Benefit Auction](https://clinicforspecialchildren.org/event/blooming-grove-shiloh-oh-benefit-auction/) - The annual Shiloh, OH benefit auction is a day full of unique auction items including handmade quilts, beautiful furniture, plants, & more!
- [Shippensburg Benefit Auction](https://clinicforspecialchildren.org/event/shippensburg-benefit-auction/) - The annual Shippensburg auction is a fantastic day full of chicken BBQ, pies, donuts & plenty of unique, handmade auction items.
- [Lancaster County Benefit Auction](https://clinicforspecialchildren.org/event/lancaster-county-benefit-auction/) - Our annual Lancaster County auction is always a great day full of exciting auction items like handmade quilts, carriages, carts, & farm sheds.
- [Union County Benefit Auction](https://clinicforspecialchildren.org/event/union-county-benefit-auction/) - Join us for the annual Union County Auction! There will be plenty of furniture, quilts, toys, sporting goods, & specialty items up for bid!
- [Our 30th Anniversary!](https://clinicforspecialchildren.org/event/our-30th-anniversary/) - 30 years & counting! On this day in 1989, the Clinic for Special Children was established - providing life-saving care for decades to come.
- [2018 Extraordinary Give | CSC Whoopie Pie Toss!](https://clinicforspecialchildren.org/event/2018-extraordinary-give-csc-whoopie-pie-toss/) - Come join us in Lancaster City's Penn Square to talk with our staff and take home a FREE whoopie pie! The countdown to the 2018 Extraordinary Give is on! On Friday November 16, 2018 donations will be accepted from 12 midnight – 11:59 PM as part of Lancaster County’s largest day of online giving. Every dollar donated at
- [Clinic for Special Children 5K](https://clinicforspecialchildren.org/event/clinic-for-special-children-5k/) - Join us for our FIRST 5K Run/Jog/Walk to benefit Clinic for Special Children! $100 CASH PRIZE for the top overall male & female runners! Enjoy a 5K, free refreshments, a silent auction, and crafts for kids among the many family-friendly activities planned for the day! Proceeds support the mission of Clinic for Special Children, a
- [The Night Before Christmas Train | Strasburg Rail Road](https://clinicforspecialchildren.org/event/the-night-before-christmas-train-strasburg-rail-road/) - Sparkling skies, warmth from a potbelly stove, the aroma of freshly baked cookies, and magic in the air. Returning again this year, the popular Night Before Christmas Train runs on select Wednesday, Thursday, and Friday evenings during the holiday season. A portion of proceeds collected from the sale of Night Before Christmas Train tickets is donated annually to the Clinic for Special Children.
- [Happy New Year!](https://clinicforspecialchildren.org/event/happy-new-year/) - The CSC office will be closing early on Monday, December 31st (New Years Eve) from 1 p.m. – 5 p.m and will be closed all day Tuesday, January 1st (New Years Day) in observance of the New Year holiday.
- [Happy Holidays!](https://clinicforspecialchildren.org/event/happy-holidays/) - The CSC office will be closing early on Monday, December 24th (Christmas Eve) from 1 p.m. - 5 p.m and will be closed all day on Tuesday, December 25th (Christmas Day) and Wednesday, December 26th in observance of the Christmas holiday.
- [Happy Thanksgiving!](https://clinicforspecialchildren.org/event/happy-thanksgiving/) - The CSC office will be closed on Thursday, November 22nd and Friday, November 23rd in observance of the Thanksgiving holiday.
- [The Great Train Robbery | Strasburg Railroad](https://clinicforspecialchildren.org/event/the-great-train-robbery-strasburg-railroad/) - Travel back in time with the Strasburg Railroad to 1934 for an adventurous 45-minute ride on the rails through scenic Amish Country.
- [Missouri Benefit Auction](https://clinicforspecialchildren.org/event/missouri-benefit-auction/) - A benefit auction and lunch will be held on Saturday August 18th in support of the Clinic for Special Children on the west edge of Memphis at Ed's Machinery. A candy drop will kick-off the event at 9:30am, followed by the auction starting at 10:15am and then food at 11am. The auction will feature indoor
- [Union County Benefit Auction](https://clinicforspecialchildren.org/event/union-county-benefit-auction-2/) - Please join us for a flower auction and rib dinner on the night before the full auction Flower Auction and Rib Dinner Friday, June 1st | 5:00pm - 8:00pm Buffalo Valley Produce Auction 22 Violet Road Mifflinburg, PA 17844
- [2018 Midwife Conference](https://clinicforspecialchildren.org/event/2018-midwife-conference/) - This event is designed to provide midwives with the most up-to-date information, emphasizing recent developments in midwifery healthcare practice and to provide key solutions to the latest challenges faced by midwives. We also present a comprehensive review of disease screening and management for commonly encountered diseases in Amish and Mennonite communities. This course is intended
- [2018 Community and Public Health Conference by PSU's Department of Rural Health and College of Medicine](https://clinicforspecialchildren.org/event/2018-community-and-public-health-conference-by-penn-states-department-of-rural-health-and-college-of-medicine-2/) - CSC's Dr. Katie Williams will be presenting an internationally recognized program developed by herself and Dr. Devyani Chowdhury that has helped to deliver technologically advanced medical care to rural, underserved communities in Lancaster County and abroad at Penn State's Department of Rural Health's 2018 Community and Public Health Conference. Since 2015, pediatrician Dr. Katie Williams and
- [Blair County Benefit Auction](https://clinicforspecialchildren.org/event/blair-county-benefit-auction-2/)
- [Blooming Grove Benefit Auction](https://clinicforspecialchildren.org/event/blooming-grove-benefit-auction-2/)
- [Shippensburg Benefit Auction](https://clinicforspecialchildren.org/event/shippensburg-benefit-auction-2/)
- [Lancaster County Benefit Auction](https://clinicforspecialchildren.org/event/lancaster-county-benefit-auction-2/)
- [CSC's ExtraGive Whoopie Pie Toss!](https://clinicforspecialchildren.org/event/cscs-extragive-whoopie-pie-toss-2/) - Come join us in Lancaster City to talk with our staff and take home a FREE whoopie pie! The countdown to the 2016 Extraordinary Give is on! On November 17, 2017 donations will be accepted from 12 midnight - 11:59 PM as part of Lancaster County’s largest day of online giving. Every dollar donated at ExtraGive.org
- [Happy Thanksgiving!](https://clinicforspecialchildren.org/event/happy-thanksgiving-2/) - CSC will be closed November 23–26th

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## Topics

- [Therapy](https://clinicforspecialchildren.org/topic/therapy/)
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- [Metabolic](https://clinicforspecialchildren.org/topic/metabolic/)
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- [Genomic Testing](https://clinicforspecialchildren.org/topic/genomic-testing/)
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- [Endocrine System](https://clinicforspecialchildren.org/topic/endocrine-system/)
- [Hearing](https://clinicforspecialchildren.org/topic/hearing/)
- [Renal System](https://clinicforspecialchildren.org/topic/renal-system/)
- [Ocular System](https://clinicforspecialchildren.org/topic/ocular-system/)
- [Hepatic System](https://clinicforspecialchildren.org/topic/hepatic-system/)
- [Skeletal System](https://clinicforspecialchildren.org/topic/skeletal-system/)
- [Immune System](https://clinicforspecialchildren.org/topic/immune-system/)
- [Cardiac System](https://clinicforspecialchildren.org/topic/cardiac-system/)
- [Pulmonology](https://clinicforspecialchildren.org/topic/pulmonology/)

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