Year: 2022

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 of medicine, leading to a better understanding of disease and novel treatment strategies, such as gene therapy.

He is fortunate to work with an amazing team of physicians, nurses, genetic counselors, and laboratory scientists at the Clinic, which enables him to integrate clinical medicine with patient-centered research on a daily basis. His research is focused on neurogenetics, ranging from neuromuscular disorders and metabolic disorders to epilepsy. He earned his B.S. in Biochemistry and Molecular Biology at the Pennsylvania State University, his M.D. at the Drexel University College of Medicine, and completed residency in both Pediatrics and Pediatric Neurology at the UPMC Children’s Hospital of Pittsburgh. This talk was given at a TEDx event using the TED conference format but independently organized by a local community.

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 Jevon & Josiah.

The King 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

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.

Every dollar you donate on November 18th 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 2022 Extraordinary Give.

1.  On Friday, November 18th (from midnight to 11:59 p.m.) visit the website ExtraGive.org 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. on November 18th 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 18th, 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 ExtraGive.org, search for ‘Clinic for Special Children’, and click the orange ‘Fundraise’ button to create your own page before November 18th!
4. On Friday, November 18th, visit our info table at the Speckled Hen in Strasburg from 10:00 am – 2:00 pm! We will have goodies for our friends that visit us!

For additional information, please contact the Clinic’s Development team at 717-687-9407 or giving@clinicforspecialchildren.org.

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!

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 & Photos

View the 2022 CSC 5k Race RESULTS HERE

View photos from the 2022 CSC 5k HERE

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 promise of that great undertaking, demonstrating the transformative potential of gene-based therapies for previously intractable hereditary disorders in children. SPR1NT provides an example of what can be achieved when newborn screening is combined with safe and effective disease-modifying therapy. It represents remarkable evolution in the SMA standard of care, from a reactive to a proactive stance; from a focus on patients who survive to children who thrive. At the Clinic for Special Children, we are committed to applying this preemptive model to other life-threatening conditions enriched in the populations we serve, and deeply value the community’s partnership in that endeavor,” according to Dr. Strauss, lead author on both papers.

Together, these papers summarize the final results of SPR1NT, a Phase III study focusing on newborns administered one-time intravenous SMN gene replacement therapy before six weeks of age. SMA is a devastating genetic disorder that leads to progressive degeneration of spinal motor neurons that control movement, swallowing, and breathing. Untreated infants with SMA Type 1 do not achieve independent sitting or other advanced motor milestones and 100% die or require permanent ventilation by two years of age. Infants with untreated SMA Type 2 sit independently but do not walk, and develop debilitating musculoskeletal and respiratory complications with advancing age. The companion papers, divided into SMN2 two-copy (n=14) and three-copy (n=15) cohorts, were recently published in the journal Nature Medicine. Dr. Kevin A. Strauss, Medical Director at the Clinic for Special Children, served as first author.

To read the SMN2 two-copy paper, click HERE. 

To read the SMN2 three-copy paper, click HERE. 

To read the full press release, click HERE. 

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 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 and the results, please visit here.

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!

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 2022 Benefit Auction schedule – join us at one of our auctions this year!

CLICK HERE to read the latest issue now!

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 a founder NPRL3 variant originating in a couple from 1727. The study was a collaborative effort led by clinicians and researchers from the Clinic for Special Children and the University of Maryland School of Medicine.

Read the full press release HERE

Read the paper HERE

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.

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 history working with the community, studying population and rare genetics, and how we infuse patient-centered research directly into our care. The episode also dives into the Clinic’s history with Maple Syrup Urine Disease (MSUD) and how innovations in the past, present, and future can provide better outcomes for patients and their families.

To listen to the episode, please visit here: https://rareshare.org/articles/clinic-for-special-children-podcast

To learn more about RareShare and their work within the rare disease community, please visit here: https://rareshare.org/

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 old & 1 year old | CODAS Syndrome

Jevon and Josiah King are adorable and cheerful brothers that have a special bond as they both were diagnosed with CODAS Syndrome. The King family visits the Clinic for monthly check-ins and CSC serves as their primary care physician by providing and coordinating compassionate care. Jevon loves books and music and communicates by signing. Last year he “sang” a song at his church’s Christmas service. Josiah loves to play peek-a-boo and is almost ready to crawl! 

Rose Snyder | 5 years old | Down Syndrome

Rose is a joyful little girl whose special qualities endear her to all that come to know her. Shortly after birth, Rose was diagnosed with Down Syndrome. From her first visits as a newborn to undergoing cardiac, hearing, and eye examinations with visiting specialists, Rose has been comprehensively cared for by the Clinic. She is an enthusiastic lover of music, and especially enjoys playing her little guitar or her sister’s violin. She greets everyone that she sees in church or school with equal joy, which reminds us all to do the same. 

Estelle Weaver | 2 years old | Phenylketonuria (PKU)

Estelle is a cheerful and happy go lucky toddler who loves playing in the snow! Shortly after her birth, Estelle was diagnosed with the rare metabolic disorder Phenylketonuria (PKU) via the state newborn “heel stick” test. Estelle visits the Clinic regularly for check-in appointments and ongoing management of her PKU levels. Some of Estelle’s favorite things are when her brothers read stories to her and sitting beside her big sister when she plays the piano! 

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 departments are busier than ever in delivering compassionate, comprehensive, and cutting-edge care. We feel humbled that we are able to continue to build on strong ground and reach new heights with your support.

We look forward to keeping our promise in this new year – to provide care to the most vulnerable, to continue searching for vital treatments, and to serve the community that entrusts us with their care.

Sincerely,

Adam D. Heaps, MS, MBA
Executive Director