New Clinical Educational Series | Caring for the Plain Community

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 first meeting is scheduled on Friday, December 3rd from noon – 1 p.m and can be accessed through the Zoom details below.

Talks from our inaugural Cultural Considerations for Clinicians: Caring for the Plain Community are available to access for your own education HERE or you can register to view the talks to be eligible for CME credits HERE.

The second educational talk session is currently scheduled for Friday, March 4th (postponed a month due to COVID). For more information on this series, please contact Stephen Ratcliffe, MD, MSPH at or


Zoom Meeting Details

Join Zoom Meeting
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Meeting ID: 955 6490 1257
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A Birthday of Hope | Oakley Zimmerman’s 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 Family’s Story

Read the full letter: Click Here

How Can You Give?

Make a donation online with credit card: Give Here

Mail your gift with cash or check (made to Clinic for Special Children) to:

Clinic for Special Children
PO Box 128
Strasburg, PA 17579

A Letter from our board chairman, Herman Bontrager

Read the full letter: Click Here

Thank you for cherishing the lives of children and adults facing rare genetic disorders.

Over $106,000 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 giving. This year over $15 million was raised for over 515 local non-profit organizations.


Thank you for your support!

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 your gift go further this year by donating to the Clinic during the ExtraGive.

Every dollar you donate on November 19th during the ExtraGive will also be stretched by a pool of more than $500,000 from local sponsors.

Donating is simple – below are four ways you can support the Clinic during the 2020 Extraordinary Give.

  1.  On Friday, November 19th (from midnight to 11:59 p.m.) visit the website and select ‘Clinic for Special Children’ to give online during the 24-hour period.
  2. Call the Clinic at 717-687-9407 between 9:00 a.m. – 5:00 p.m. to donate via credit card over the phone. Won’t have access to internet on the day of ExtraGive? Call us before or on November 19th, and we’ll help process your ExtraGive donation for you on the day of ExtraGive.
  3. Set up your own fundraising page! On the day of ExtraGive, share your page with family and friends to raise money in support of the Clinic for Special Children! Visit, search for ‘Clinic for Special Children’, and click the orange ‘Fundraise’ button to create your own page before November 19th!
  4. On Friday, November 19th, visit our info table at the New Holland Coffee Co. at their downtown Lancaster location from 4pm – 9pm! We will have free coasters and a cup of coffee for the first 100 visitors!

For additional information, please contact Kelly Cullen at 717-687-9407 or

Dr. Erik G. 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. In his article he details how the Clinic grew from treating a handful of biochemical disorders in 1989 to diagnosing and treating over 400 different diseases in 2021.

To read the full article, please visit HERE.

To learn more about Dr. Erik G. Puffenberger, please visit HERE.

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 an intrathecal catheter that’s connected to an implantable infusion port. The SIC system was created to address the complications of nusinersen delivery derived from significant spinal deformities or fusions commonly found in SMA patients.

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 develop our Plain Insight Panel™ test.

CLICK HERE to read the latest issue now!


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. Dr. Strauss contributed to the paper as the Clinic for Special Children served as a clinical site for the phase 3 SPR1NT study of the gene therapy. SMA is the most common genetic cause of infant death worldwide and causes progressive degeneration of motor nerve cells in the spinal cord and brainstem.

To read the full paper, please visit the link HERE.

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 the University of Maryland.

Click here for the conference flyer.

Click here for the agenda.

Register for the conference HERE. 

Over $33,000 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 the 2021 CSC 5k HERE



We’re so grateful to our 2021 Clinic for Special Children 5k sponsors!

Presented by:


Kid’s Color Fun Run Presented by:


Thank you to our sponsors!



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 the concepts of genetics and genomics.

The textbook is published by Academic Press and available for purchase.  The editors for the book are Claudia Gonzaga-Jauregui and James R. Lupski.

To purchase the textbook, please visit HERE.

To read a press release about the book, please visit HERE.

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

Alexis joined the Clinic for Special Children in 2021 as a Nurse. In this role, Alexis works within our clinical team to provideexceptional patient care. She organizes and administers immunizations, assists with general patient care, and supports the specialists who volunteer their time to the Clinic.

Learn more about Alexis on her staff page HERE.

Skye Gawn
Development Associate – Operations

Skye joined the Clinic for Special Children in August 2021 as a Development Operations Associate. As the Development Operations 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.

Learn more about Skye on her staff page HERE. 

Register today for the 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, venturing past a vineyard, an Amish schoolhouse, and acres of picturesque farms. Strollers and wheelchairs are welcome!

Click on the links below to register online or via a paper application.

   Online Registration           Paper Registration







WHERE The course starts and ends at the Clinic for Special Children, 535 Bunker Hill Road, Strasburg, PA 17579.

TIMES 9:00 a.m. start for 5k race. Kid’s color fun run following the main 5k race. Race day registration for the 5k race & kid’s color fun run will open at 7:45 a.m. and close promptly at 8:45 a.m.

PACKET PICK-UP Friday, September 17 between 9 a.m. – 5 p.m. and race day from 7:45 a.m. – 8:45 a.m. at the Clinic for Special Children.

$30 by August 20, includes goody bag and t-shirt (entry & payment must be received by Aug. 20).
$35 after August 20 (including race day), goody bag and t-shirt while supplies last.
$10 Kid’s color fun run for ages 10 & under. Kid’s color run to start after conclusion of main 5k race.

1. You can register online HERE at Pretzel City Sports. Online registration has a nominal service fee & closes at midnight, Wednesday, Sept. 15.
2. Mail registration form & payment toClinic for Special Children, Attn: 5k Registration, PO Box 128, Strasburg, PA 17579. If paying via check, make payable to: Clinic for Special Children.
3. Register in-person on race day. Race day registration will be open at 7:45 a.m. and close promptly at 8:45 a.m.

5k AWARDS Medals will be awarded to the 1st overall male and female finishers. Awards will be given to the top three male and female finishers in the following categories: 14 & under, 15-19, 20-29, 30-39, 40-49, 50-59, 60-69, 70+.

QUESTIONS Contact us at or call 717-687-9407.

Event will be held rain or shine. No refunds, mailed awards or t-shirts. Results posted on & photos posted Mon., Sept. 20 on COVID-19 Statement: We will be compliant with current regulations.
Visit this website for updates.


Presented by:

Kid’s Color Fun Run Presented by:


Thank you to our sponsors!






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 book are Lucking, S.E., Maffei, F.A., Tamburro, R.F., Zaritsky, A.

To purchase the textbook, please visit HERE.

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 on the project.  Our hope is that the project results in a safer, more effective precision therapy to treat MSUD.

Press Release

MILPITAS, Calif.–(BUSINESS WIRE)–ASC Therapeutics, a privately-held biopharmaceutical company pioneering the development of transformative in-vivo gene replacement, gene editing and allogeneic cell therapies, today announced a partnership with the University of Massachusetts Medical School (UMMS) to co-develop a gene therapy for Maple Syrup Urine Disease (MSUD).

To read the full press release, please visit HERE.

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 for Special newsletter HERE


Welcome Emilienne & 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 supporting a number of CSC’s research endeavors, including work on the Phenylketonuria (PKU) and TNNT1 myopathy projects. These projects will provide insights into the rare genetic conditions as she will be involved with prospective natural history studies, clinical trials of gene replacement therapies, and the analysis of vital data.

Learn more about Emi on her staff page HERE.

Amy Albright, MS
Genetic Counselor

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.

Amy received her Master’s of Science degree in Human Genetics and Genetic Counseling from Thomas Jefferson University. She completed her undergraduate studies in biology and psychology at West Chester University. Before joining the Clinic staff full-time, Amy interned at the Clinic in her second year of graduate school. Her graduate thesis project was on Plain community perceptions of the Plain Insight Panel™.

Learn more about Amy on her staff page HERE. 


Enjoy CSC’s 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 CSC newsletter HERE

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 for the majority of rare diseases and many go undiagnosed. Rare Disease Day improves knowledge amongst the general public of rare diseases while encouraging researchers and decision makers to address the needs of those living with rare diseases (from


View a short video below from staff at the Clinic explaining why Rare Disease Day is important to us!




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 | Glutaric aciduria type 1 (GA-1)

A motivational speaker and entrepreneur, Michael is an inspiring young adult. He was diagnosed with Glutaric Acidemia type 1 (GA-1) at eight months old by a doctor who hadn’t previously seen children with GA-1 survive past age three. Michael’s family did their own research and found the Clinic. Michael now visits the Clinic about once a year where we monitor his condition. He has even participated in ongoing research for GA-1. In his free time, Michael is busy running his motivational speaking business called ‘Beyond the Chair’.


Kyreece Martin | 1.5 years old | Maple Syrup Urine Disease (MSUD)

Kyreece is an adorable and outgoing toddler who loves to give smiles to everyone he meets! He was diagnosed on his first day of life with Maple Syrup Urine Disease (MSUD). He recently underwent liver transplantation at the UPMC Children’s Hospital of Pittsburgh and is doing well. Kyreece visits the Clinic about every month or so for ongoing management of his MSUD. Our entire team enjoys seeing Kyreece and his family when they visit us! 




Eric Rodriguez | 2 years old | Glutaric aciduria type 1 (GA-1)

Eric is a “force of nature” as described by his parents. Born premature at 31 weeks, Eric received his diagnosis of GA-1 within days after his birth. After researching about GA-1, his family learned of the Clinic and had their first consultation when he was six months old. The rest is history! The Rodriguez family visits the Clinic now every three months to monitor Eric’s progress. Eric recently started day care where “he is learning to share (in theory).”

A New Year of Compassionate Care & Cutting-Edge Research | Message from our Executive Director

A New Year
of Compassionate Care and Cutting-Edge Research

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.

We look forward to providing compassionate care informed by cutting-edge research for those we serve in 2021. Whatever challenges and opportunities lie ahead of us, we are heartened by your continued support of the Clinic for Special Children’s vital work. We are stronger than ever because of you.


Adam D. Heaps, MS, MBA
Executive Director