You Can Help Provide Bright Futures for Children Like Kaiden

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 should say an eventful two years), this November marks our son Kaiden’s second birthday, the second year of his journey with nephrotic syndrome, and a life-changing kidney transplant.

Choosing the Clinic for Special Children (CSC) team to help us through this has been the decision that most positively impacted the care that Kaiden has received. The Clinic has provided him with outstanding medical treatment and we are truly grateful to each doctor, nurse, therapist, and transplant team member that has been with us along the way. We believe our Lord God provided a healing touch through their hands…

Continue reading Kaiden’s story HERE

 

How Can You Give?

Make a donation online: Give Here

Mail your gift or make a credit card payment: Click Here

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 to honor individuals and organizations that make a positive impact on rural lives. We are proud to announce that our very own Medical Director, Dr. Kevin A. Strauss, was one of these national community stars, and one of 4 from Pennsylvania.

Read more on this at Penn State News HERE

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 essential for various cellular processes including muscle contraction, secretion regulation, cell proliferation, and gene transcription. In this study, detailed clinical characterization and functional studies were performed on four unrelated individuals with a complex multisystem disorder characterized by woolly hair, liver dysfunction, itchy skin, unusual facial features, low muscle tone, and global developmental delay.

Read the full press release here

Read the paper here

Over $62,000 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 day of online giving. This year over $10.2 million total was raised for over 500 local non-profit organizations.

 

Visit the link here to view more photos from this Extraordinary day!

 

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 Amish children who were homozygous for the variant. The children all exhibited poor growth, developmental delay, abnormal brain white matter, hearing loss, involuntary eye movements, progressive cholestatic liver disease, pancreatic insufficiency, hypoglycemia, anemia, intermittent excess of protein in urine, recurrent bloodstream infections, and chronic pulmonary disease.

 

Read the full press release here

Read the paper here

THANK YOU for making our first Clinic for Special Children 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 visit our Google Photos link here.

And a BIG thank you to our sponsors and volunteers who made this event happen!

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 represents the leading genetic cause of infant death worldwide, with an incidence of approximately 1 per 10,000 newborns worldwide and as many as 1 per 2,800 babies of Mennonite descent. The observations were conducted within a population-specific framework to elucidate subtle differences in disease expression and the subsequent impact of disease-modifying therapies administered early in life. Forty-two Mennonite and fourteen Amish patients with SMA were included in the study by practitioners and researchers at the Clinic for Special Children in Strasburg, PA. The study is published online today in PLOS ONE.

 

Read the full press release here

Read the paper here

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, swallowing, and breathing. It is the leading genetic cause of infant death worldwide. Nusinersen is the first FDA approved therapy for SMA but must be administered into the cerebrospinal fluid by repeat lumbar puncture every 4 months for life. Unfortunately, the majority of surviving SMA patients have skeletal deformities or spinal hardware that make it difficult to safely and reliably access the cerebrospinal fluid. The study, by clinicians and researchers at the Clinic for Special Children in Strasburg,PA and the Nemours/A.I. duPont Hospital for Children in Wilmington DE, appears in the Journal of Pediatric Orthopaedics.

 

Read the full press release here

Read the paper here

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 medical home for children living with rare genetic disease.

If you can’t make the race and you’d like to support us, please SHARE our 5K event with your friends and family or Click Here for event sponsorship opportunities

Click on Flyer below for Online Registration           Click on Form below for Paper Registration

(Online registration closes Weds. Sept. 19th)                        (Paper registration available including day-of race)

                  

Runners, joggers, and walkers are invited to join us for a 3.1 mile easy course starting and ending at the Clinic for Special Children in Strasburg Township along scenic country roads, winding through Lancaster County farmland. Participants will have full use of the closed road as they venture past vineyards, see an Amish schoolhouse, and pass by acres of picturesque Amish farms.

WHERE: The race begins and ends at the Clinic for Special Children, 535 Bunker Hill Road, Strasburg, PA 17579.

TIMES: 5K Run/Jog/Walk starts at 8:00 a.m. with awards ceremony following the race.
Registration and packet pick-up will be open on race day from 6 a.m. – 7:30 a.m.

ENTRY FEES:
$25 if registered by Sept 1, includes goody bag and t-shirt (Entry and payment must be received no later than
September 1)
$30 after September 1 (including race day), includes goody bag and t-shirt while supplies last
FREE for children age 3 and under
Optional online registration available here (nominal service fee applies, closes at midnight, Wednesday, September 19)

PRE-PACKET PICK-UP: available Friday, September 21 between 4-7 p.m. at Clinic for Special Children

AWARDS: Medals will be awarded to: 1st overall male and female and top 3 male and female in the following
categories: 14 & under, 15-19, 20-29, 30-39, 40-49, 50-59, 60+

QUESTIONS: Contact Keturah Beiler at kbeiler@comcast.net or 717-687-9407

CLICK HERE to follow our Clinic for Special Children 5K Facebook event for information updates and newest event details.

 

 

Thank You to our 5k Sponsors

Event Sponsor

 

Platinum Sponsors

 

 

 

 

Gold Sponsor

 

Silver Sponsors

 

 

 

 

 

 

 

Enjoy CSC’s 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 staff announcements, carrier testing FAQ, our collaborators from Children’s Hospital of Pittsburgh, a embroidery company from Oklahoma supporting the Clinic stitch by stitch, and our 2018 Fall Family Fun Day!

 

Read the 2018 CSC Newsletter HERE

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 molecular reports of one hundred and six ANM patients born between 1923 and 2017 and was led by researchers from the Clinic for Special Children in Strasburg, PA. It appeared this month in the journal Human Molecular Genetics.

 

Read the full press release here

‘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 in a different way. The Hornings sought advice and care from Clinic of Special Children.

“The clinic is always available to us,” Jeanette said. “It’s hard to explain with words. … On our first visit, Dr. Strauss had so much compassion. We felt like he was caring for our hearts. It felt like family.”

Read the full article here

 

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 she’s served, her contributions to original scientific research and her passion for community education.

During her time with CSC, Dr. Williams collaborated with Dr. Devyani Chowdhury from Cardiology Care for Children to design and implement a globally recognized newborn wellness screening protocol. A speaker at Penn State University and PA Office of Rural Health’s 2018 Community and Public Health Conference, she was able to present this project and research to an audience of medical practitioners, professors, government and state representatives, non-profit executives, and students. She has contributed original research to two articles published in peer reviewed journals with three others in progress. Her work and interviews have been featured locally in Lancaster Newspaper, Ephrata Review, and Advertiser, nationally in Genome Magazine, and internationally through Gulf News Magazine out of Dubai.

Dr. Williams passionately involved herself in the education and empowerment of midwives across Pennsylvania. She worked with CSC’s Christine Hendrickson to organize three pulse-oximetry workshops for local midwives and hosted CME accredited midwife conferences at the Clinic. Through her care for Amish and Mennonite children living with rare genetic disease in Lancaster, Dr.Williams created lasting relationships with many families in the community and developed a deep respect and devotion to those she has served. She hopes to continue her care of children from the Plain community in her home state of Wisconsin. We wish her all of the best in her next endeavours.

 

 

 

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 online here
Download our paper application here

Runners, joggers, and walkers are invited to join us for a 3.1 mile easy course starting and ending at the Clinic for Special Children in Strasburg Township along scenic country roads, winding through Lancaster County farmland. Participants will have full use of the closed road as they venture past vineyards, see an Amish schoolhouse, and pass by acres of picturesque Amish farms.

WHERE: The race begins and ends at the Clinic for Special Children, 535 Bunker Hill Road, Strasburg, PA 17579.

TIMES: 5K Run/Jog/Walk starts at 8:00 a.m. with awards ceremony following the race.
Registration and packet pick-up will be open on race day from 6 a.m. – 7:30 a.m.

ENTRY FEES:
$25 if registered by Sept 1, includes goody bag and t-shirt (Entry and payment must be received no later than
September 1)
$30 after September 1 (including race day), includes goody bag and t-shirt while supplies last
FREE for children age 3 and under
Optional online registration available here (nominal service fee applies, closes at midnight, Wednesday, September 19)

PRE-PACKET PICK-UP: available Friday, September 21 between 4-7 p.m. at Clinic for Special Children

AWARDS: Medals will be awarded to: 1st overall male and female and top 3 male and female in the following
categories: 14 & under, 15-19, 20-29, 30-39, 40-49, 50-59, 60+

QUESTIONS: Contact Keturah Beiler at kbeiler@comcast.net or 717-687-9407

CLICK HERE to follow our Clinic for Special Children 5K Facebook event for information updates and newest event details.

If you can’t make the race and you’d like to support us, please SHARE our 5K event with your friends and family or Click Here for event sponsorship opportunities.

 

 

CSC featured in Boston Globe Media’s 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 communities at large.

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. The number one genetic cause of infant death, SMA affects motor nerve cells in the spinal cord and leads to the loss of muscle function. Diagnosed early, some of the debilitating effects of this disorder may be avoided with appropriate treatment. 

Volunteer Dominika Korulczyk worked alongside laboratory director Dr. Erik Puffenberger and CSC’s laboratory team, leading a project to devise two new genetic tests: a carrier test for Spinal Muscular Atrophy (SMA) and a test to distinguish the type of SMA a person is affected with. In the Amish and Mennonite populations, SMA is caused by a homozygous deletion of the SMN1 gene. Affected children inherit one deleted copy from each parent (and thus have no functional SMN1). The new test uses competitive polymerase chain reaction (cPCR) to assess the number of copies of the SMN1 gene (versus a non-deleted gene, ALB) that an individual carries. SMA carriers harbor only one copy of the SMN1 gene.

Thanks to the team’s work, we are now able to offer this customized genetic testing for SMA in our on-site laboratory at a very low cost. The new carrier test will be offered for the same price as our other carrier tests ($50). CSC’s laboratory team and clinical team are able to work together to make a fast and accurate SMA diagnosis, beginning treatment almost quickly and preventing the progression of symptoms for this rare genetic disease. 

Please enjoy CSC’s 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 events, and progress updates on some of our ongoing research projects. We highlight two inspiring stories of outreach including CSC’s first international mission trip to Mexico and a collaborative newborn wellness screen project that saved a local life.

Read CSC’s spring 2018 newsletter here

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’s 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 we serve. We are also presenting the story about the incredible impact one beautiful woman, Esther Davies, made on the Clinic for Special Children and the Plain communities through a lifetime of passion and advocacy. We are now sharing her story with a heavy heart as we learned of Esther’s passing last evening. We invite you to help us celebrate her through our thank you to Esther and her friend, John Thackrah found on page 13. On behalf of the board and staff of CSC and the countless children who have benefitted from her kindness, we wish to express our sincere gratitude and condolences to Esther’s friends and family.

Read CSC’s 2017 Annual Report Here

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 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 for certified nurse midwives, lay nurse midwives, and others interested in the care of newborns.

 

View the full conference brochure and agenda HERE

Register below with your credit card
or print and mail your registration form and check:

Checks written to: Clinic for Special Children
Mail to: 535 Bunker Hill Road
Strasburg, PA 17579

For additional questions about our conference, please contact:

Christine Hendrickson, RNC
E-mail: chendrickson@clinicforspecialchildren.org
Phone: 717-687-9407

 

 

 

 

 

 

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 with the Newkirk family to host a “Swing FORE the Kids” Topgolf tournament through the Crain Family Foundation. The money that was raised from the event will be used to help subsidize the cost of travel to CSC for children living with rare genetic conditions, helping them access the specialized care they need.

The Crain Family Foundation generously hosted this event in partnership with Kris and Maureen Newkirk, parents of a child cared for by our Clinic, Charlie Newkirk. Seeking the best care for their son living with a rare genetic disease called Glutaric Acidemia Type 1, Kris and Maureen traveled from Arizona to the Clinic for Special Children. Visiting CSC was a “game-changer” for Kris.

“Dr. Strauss met with us for three hours to examine Charlie and make adjustments to his treatment.  As the world’s foremost expert in GA1, he gave us a level of comfort that no other provider could possibly give to us,” Kris told the Crain Family Foundation.

 

The whole Newkirk family (Kris, Maureen, Henry, Paul and Charlie) graciously hosted Dr. Strauss and Teresa for a family style dinner on Sunday night before the Topgolf event. Kris and Maureen introduced Dr. Strauss and Teresa to several other families and children affected by a rare genetic disease, creating meaningful memories and lasting relationships. Read the rest of the Newkirk’s story here.

 

The Crain Family Foundation’s “Swing FORE the Kids” event on Monday evening, February 26th, drew a diverse crowd of at least 40 professional atheletes and coaches, community members, family and friends, and others who share a passion for raising awareness about rare disease. Attendees were offered the opportunity to play golf with celebrity athletes, bid on a variety of items through a silent auction, and enjoy great food, drink, and camaraderie in support of the Clinic’s cause.

Celebrity appearances included, but are not limited to, Jon Lester, Trevor Plouffe, Drew Butera, Brian Duensing, Mark Teahen, Paul Konerko, TJ McFarland, Jonny Gomes, Evan Longoria, Mark Melancon, Brandon Webb, Mike Sweeney, Chris Snyder, George Brett, Ron Villone, Mike Madano, Brendan Perlini, Gordon Beckham, Nate Jones, Matt Albers, Alex Cobb, and Hector Santiago!

See coverage of the event by “Good Morning, Arizona” here.

 

On behalf of the whole team at Clinic for Special Children, we would like to extend a heartfelt THANK YOU to everyone who helped to make this day possible and for welcoming us. It is truly inspirational to witness the manifestation of CSC’s mission come alive through the altruism of others both at home and halfway across the country. We couldn’t do what we do without you. Thank you!

The Ephrata Review highlights CSC’s 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 newborn’s oxygen levels to detect heart defects, lung disease, and infections. Mallory Sensenig of Denver, PA, realized first hand the importance of the screening when, within hours of delivering her daughter, Josephine, her nurse midwife, Danielle Malik, found the newborn’s oxygen levels below normal.

The little girl was immediately seen by Pediatric cardiologist Dr. Devyani Chowdhury of Cardiology Care for Children. Dr. Chowdhury did not detect any heart problems and recommended the baby to Heart of Lancaster. Baby Josephine was admitted to the Neonatal Intensive Care Unit where she was treated for fluid in her lungs. After two days, her parents were able to take her home to her four brothers and sisters.

On January 25, Josephine celebrated her one-year birthday and is a normal, healthy toddler. “Initially I was worried because this had not happened to my other children,” Mallory recalled. “But my mind was put at ease after we got to the hospital and she received the care she needed.”

The at-home wellness screening program was developed in 2015 by Clinic for Special Children Pediatrician Dr. Katie Williams and Dr. Devyani Chowdhury after Pennsylvania state law mandated, in 2014, that pulse oximetry screenings be performed at 24 to 48 hours of age as part of every newborn’s physical examination regardless of their place of birth.

Dr. Chowdhury’s protocol, based on models used in Europe and the Netherlands where there are many home births, requires screenings be performed before the midwife leaves the mother and the baby, typically when the baby is 3 to 5 hours old, and a second screening per the state requirement from 24 to 48 hours after birth.

While pulse oximetry screenings were readily available to babies born in hospitals, how were babies born in birthing centers or at home to be screened? The test is only reliable if performed using the right equipment and by trained personnel.

“Many midwives wanted to provide pulse oximetry screenings to the newborns but did not have the equipment or training,” said Dr. Williams. “Dr. Chowdhury developed the screening protocol and worked with the clinic to find initial funding to purchase the pulse oximeters. We held our first workshop to train midwives on using the equipment in September 2015.”

Since then, nearly 2,000 newborns have received wellness screenings by midwives. As a result of the in-home screenings, seven newborns have been identified with heart or lung problems and received care before potentially becoming critically ill.

The simple, noninvasive screening involves placing a soft band on the baby’s hand and foot to measure blood oxygen levels. It detects cyanosis, or blueness, that can be a sign of serious heart defects, lung disease, and infections in newborns that frequently cannot be seen by the naked eye, even by experienced midwives or obstetricians.

The doctors realized another benefit to the pulse oximetry screenings – in addition to identifying heart defects, the screenings also detected lung infections before children became symptomatic.

“There can be multiple reasons why there is low oxygen saturation in a baby’s blood level beyond congenital heart disease,” explained Dr. Chowdhury. “The pulse oximeter has empowered the midwives and helped them screen for conditions in addition to heart problems so that babies identified at risk can receive further medical attention and care.”

Currently, 33 midwives and Birth Care in Georgetown, PA, use 51 pulse oximeters while attending deliveries in Pennsylvania, Delaware and Maryland through donations from McDonald House Charities, Abby’s Foundation and Hershey Rotary.

Dr. Chowdhury noted the program is gaining global appeal, especially in countries where a large number of births are out of hospital and there is very high neonatal mortality. She first presented on the program in 2015 at the Global Health Forum in Geneva, Switzerland, and most recently in July at the World Congress of Pediatric Cardiology and Cardiac Surgery in Barcelona, Spain.

 

Article written by Frieda Schmidt and published by The Ephrata Review on February 14, 2018

Photography by Preston Groff Photography

 

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 for Special Children’s role in this piece of medical history.

Read the article here

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 organize ongoing and future research.  Karlla Brigatti, MS, LCGC has been appointed the Research Operations Director and will lead the team.  Karlla will also join the leadership team of the Clinic.  Millie Young, RN has been appointed the Research Nurse and will work with Karlla and the rest of the CSC team to achieve research goals.  Keturah Beiler, RN has moved from a part-time nurse to a full-time nurse and will be providing clinical support to Dr. Strauss.  We hope these changes will further advance our mission of serving children and adults who suffer from genetic and other complex disorders!

Dr. Erik Puffenberger’s 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 of those living with rare genetic conditions. For about eight years, he performed all functions of our laboratory by himself including genetic testing, scientific research, and laboratory analytics. He has contributed original research and findings to many peer-reviewed publications, sharing knowledge that has been translated into effective medical care. Because of his expertise and dedication, CSC is now able to offer affordable world-class laboratory services with unparalleled efficiency. Thank you for your service!

 

 

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, Teresa is responsible for providing opportunities for support, stewarding philanthropic relationships, and serving on CSC’s leadership team. Prior to joining the Clinic, Teresa was the Associate Director of Development for a continuing care retirement community where she significantly increased revenues for special events and exceeded fundraising goals for the organization. She says of her service in development, “It is rewarding knowing that my work helps provide underserved individuals with state of the art care and essential services that they need and deserve.”

“I am honored to be a part of the Clinic Team and feel grateful to be able to share my passion for helping others, along with my professional experience and education in a way that will support the Clinic’s mission and help the patients at CSC. I look forward to building lasting relationships with donors, patients and their family members, as well as the Clinic’s staff and Board.”

Welcome, Teresa!