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!
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 Creveld syndrome (EVC), a rare skeletal dysplasia disorder.
The letter is published in the June issue of Pediatric Pulmonology.
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 with two or three copies of SMN2 at risk for developing SMA type 1 or 2, respectively. SMA is a devastating rare genetic disorder that leads to progressive degeneration of spinal motor neurons that control movement, swallowing, and breathing. The paper was recently published by researchers from the Clinic for Special Children and Children’s Hospital of Philadelphia in the Annals of Clinical and Translational Neurology.
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 how our building came to life over the past year!
CLICK HERE to read the latest issue now!
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 generations to come.
To allow staff time to move all equipment, furniture, and other items to the new location, the Clinic will only see urgent patients and conduct urgent lab testing from March 18 – April 7, 2024. We will still be available by phone for urgent needs during this period.
Starting April 1, 2024, all Clinic for Special Children services, including office visits for patients and laboratory testing, will be provided at our new location (20 Community Lane, Gordonville, PA 17529). Please ensure that you use the updated contact information below for mailing, shipping, and navigation for our new facility. Our relocation will be permanent and our Strasburg location will no longer offer patient care or laboratory testing after March 29, 2024.
| Street Address | 20 Community Lane, Gordonville, PA 17529 | Use for GPS and mail through FedEx & UPS | Changed |
| Mailing Address | P.O. Box 500, Intercourse, PA 17534 | Use for mail through USPS | Changed |
| Phone Number | 717-687-9407 | No Change | |
| Fax Number | 717-687-9237 | No Change | |
| queries@ClinicforSpecialChildren.org | No Change | ||
| Website | www.ClinicforSpecialChildren.org | No Change | |
| Office Hours | Monday – Friday, 9:00 AM – 5:00 PM | No Change |
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 you to everyone who supported our work in 2023!
Just one month until our move on April 1st! Each floor is now in the final stages before inspection and last-minute items are being wrapped up. Today, the mural in the kid’s area of the waiting room was being painted. We can’t wait to see our families enjoy this new space designed around their needs.
In just two weeks, we will start packing our Strasburg location and plan to fully open in Gordonville, PA on April 8th.
For more details on our move, please visit our post here.
The playground is now installed! To the delight of many children who will visit our new Clinic, our fully accessible playground has been placed in front of our building.
The top floor is now complete and the main floor is finishing up the final details and will be complete in the next week or so.
The basement is in the final stages with cabinetry & baseboard installation and plumbing finishes scheduled over the next several weeks.
Key construction dates coming up:
We’re approaching the finish line!
The top floor is now complete and the main floor is finishing up in the next week or so.
The basement is in the final stages with cabinetry & baseboard installation and plumbing finishes scheduled over the next several weeks.
Key construction dates coming up:
Other than some odds and ends, the top floor of the new Clinic is now complete!
The main floor is in the final stages of door, cabinetry, and baseboard installation and plumbing finishes. If everything stays on track, this floor should be largely complete in the next week or so.
Flooring installation is in full swing in the basement with cabinetry and plumbing finishes to follow over the next several weeks.
Key construction dates coming up:
The final details are coming together! The top floor is largely complete, with only finishing painting, lighting, and trim details remaining.
The main floor has been transformed with the installation of flooring this week! Door, cabinet, and baseboard installation are on the schedule for this floor in the coming weeks.
The basement is being prepared for flooring and above ceiling work is being finalized.
Key construction dates coming up:
The countdown is on! In about two months, construction should be wrapping up on our new facility.
Flooring has now been installed on the top floor and cabinetry installation started this week. The top floor is only a few weeks away from being completed!
On the main floor, stonework and beams have been installed in our waiting room area. Finishing touches on painting and final above-ceiling work are in progress before the flooring installation begins in a few weeks.
In the basement, the final ceiling work and painting are being completed before the flooring installation begins in February.
Key construction dates coming up:
Crews have been very busy this week! Trees and shrubs have been delivered to be planted, the fencing for the playground area is now installed, most of the sidewalks are done, and the final window in the front of the building is now in place!
On the inside, heavy timbers in the waiting room area are now installed! The first coat of paint on the main floor is done and most exterior doors have been installed.
In the basement specialist area, the audiology booth is being installed this week. Crews are also painting and finishing drywall in the basement area to keep everything on schedule.
On the top floor, doors have been hung and tiles for drop ceilings are being installed. Flooring install starts tomorrow, followed by cabinetry and baseboards!
Key construction dates coming up:
The final exterior details are coming together!
Yesterday there was a flurry of activity outside of the building. Fencing installation for the playground area, line/parking sign painting, bike rack installation, and buggy shed construction were all taking place!
On the top floor, final preparations are being made for flooring installation to begin next week! Painting has recently wrapped up on the main floor, and ceiling/above-ceiling work has begun. In the basement, painting continues this week.
Key construction dates coming up:
Our new building site is starting to feel less like an active construction zone! We now have a nice paved lane to our new building and trees are starting to be planted around the site.
On the inside, each floor is in a different phase of construction. On the top floor, paneling is wrapping up in the atrium space, and flooring installation will begin shortly. On the main floor, painting is wrapping up and trim installation is going in. In the basement, the drywall has been installed and is being prepped for paint.
Enjoy the walkthrough videos below of each of the floors. The main floor includes our waiting room, exam rooms, storage areas, discussion rooms, office spaces and more. The top floor includes conference room spaces, the atrium, and offices. On the bottom floor, we have space for specialists (including an audiology booth), a physical therapy room, a break room, the laboratory, offices, and a conference room.
Key construction dates coming up:
Progress continues on all floors of the building during this holiday week! We’re looking forward to tomorrow when the base coat paving for the site will begin! The base coat paving should conclude next week. In addition to paving, trees and landscaping will be placed next week – we can’t wait to see the final exterior details come together!
In the interior, progress continues on each floor. Drywall installation is finishing up in the basement. On the main floor, prepping for painting is well underway. On the top floor, painting is progressing.
Key construction dates coming up:
In the front of the Clinic building this week, more sidewalks, curbing, and stone have taken shape! Construction on the shed for buggy parking also started. Preparations are being made for painting to start in the coming days on the top floor. Drywall installation has been completed on the main floor and started in the basement. Insulation is being blown in the basement and final drywall installation will follow soon after.
Key construction dates coming up:
On the top floor, finishing details are beginning to take shape! Window trim has started to be installed, wood paneling installation in the atrium area continues, and more! Check out the time-lapse video below of the work in the top floor atrium over the past several weeks.
On the main floor, drywall installation is pretty much complete. In the basement, HVAC/plumbing/electrical rough-ins are in the final stages and drywall installation is next.
On the exterior, stone was laid in the parking area and driveway in preparation for base coat paving. The grass is starting to peek through the dirt where hydroseed was spread, which is making things nice and green! It’s exciting to see all of the details coming together! As of now, we are still on track to move in Spring 2024.
Key construction dates coming up:
On the main floor this week, insulation was completed and drywall installation is nearing its final stages. In the basement, HVAC/plumbing/electrical rough-ins are finishing up and drywall will be hung for insulation. In the next several weeks, trim will start to be installed on the upper level and doors will be installed.
On the exterior, stamped concrete for the front porch area is beginning and a grass-pave to create a fire lane for access behind the building has started.
Key construction dates coming up:
Thank you to all of the crews that came together to hydroseed the site this week! You can see in the video below that the construction site is now quite green!
We’re looking forward to seeing grass growth over the next several weeks. Near the building, curbing and site lighting installation has progressed and continues next week. On the interior side, drywall installation continues as well as final installation of mechanicals.
Key construction dates coming up:
For the past several weeks, the focus has been the interior of the building. Mechanicals, including electrical, plumbing, and HVAC have continued starting at the top floor and working downwards. Drywall is being installed on one side of each wall in preparation for blown insulation which started in the last few weeks.
The grading for the site has also been taking shape and the bases for site lighting were installed in preparation for curbing work. Curbing at the entrance to Route 340 is complete and the curbing near the building is scheduled for mid-October. Final grading has been established and stone has been installed in preparation for poured concrete.
The next few weeks look to be busy with gutter installation, insulation work continues, mechanicals continue, and trim and other interior installation will begin shortly.
Key construction dates coming up:
While work on the exterior of the building is approaching its final stages, work on the inside of the building is rolling along! Drywall installation has begun on the top floor and HVAC, plumbing, and electrical continues.
As shown in the video below, curbing has begun at the entrance to the site at Route 340.
Key construction dates coming up:
The building’s stone installation wrapped up this week! Thank you to all of the crews who put in many dedicated hours to install the stone throughout the building – it looks amazing! The roof for the car drop-off area has been completely installed and a small cupola is currently being installed. All exterior work should be completed by the end of September! Next up for exterior installation are gutters, site lighting, and underground propane tank. The excavator continues to establish final grades around the building and prepare for curb installation.
HVAC, plumbing, and electrical continues on the top floor inside the building. Insulation will begin next week!
Key construction dates coming up:
It’s been a hot start to the week! Exterior stone and roofing installation continued and will be wrapping up shortly. By the end of September, we’re on track to have all exterior work complete. We also had our entrance established off of Route 340 (Old Philadelphia Pike) this week, which will be the new primary construction entrance to the site.
On the interior side of things, a lot of ductwork has been delivered and is being installed in the upper level. Both HVAC and plumbing are starting at the top of the building and working down to the basement and rough-in continues.
Key construction dates coming up:
Crews have continued to install vertical metal siding on the building and working on stonework installation on the exterior and interior areas. Trusses were also installed on top of the heavy timbers for the covered drop-off and subroofing was installed on top. Soon a standing seam roof will be installed and roofing for the project should be largely complete.
In all, most exterior work should be complete by the end of September and interior work will ramp up even more in the Fall!
Key construction dates coming up:
Since last week’s update, the exterior stonework, roof trim, and siding installation have continued! On the inside, rough-in of HVAC and sprinkler systems continues. Our main entrance to 340 (Old Philadelphia Pike) should be established shortly and will be used as the main construction entrance. The next week or so will include the final stages to finish the exterior stonework, roof trim and siding installation.
Key construction dates coming up:
The exterior of the building is changing daily! This week the crew has worked diligently on installing siding and prepping for/starting stonework installation. The entrance drop-off area is taking shape with the installation of heavy timbers earlier this week! The roof is almost complete – just the finishing touches are being completed. On the inside, the installation of drywall for upper-level ceilings continued. Electrical rough-ins are complete and rough-ins for HVAC and sprinklers continue.
Key construction dates coming up:
Almost all of the windows are installed! The building is being prepared for siding installation this week. Roof trim, electrical/HVAC/sprinkler rough-ins, and drywall installation for upper-level ceilings will continue this week. Here’s to another busy week! Thank you to all of the contractors that are working diligently at the site – we couldn’t do this without your support.
Key construction dates coming up:
The building is starting to look polished with the installation of many windows and the roof over the past several days! On the interior side, rough-ins have begun for electrical/HVAC/sprinkler systems and framing is coming to an end. Drywall installation will begin shortly as well as the installation of siding on the exterior.
We’re excited to see how the building takes shape over the next several weeks!
Key construction dates coming up:
Another week, more progress! As you can see in the video, the standing seam roof installation has begun and will continue this week. Framing and ZIP panel installation is planned to wrap up in the coming days. HVAC, electrical, and sprinkler rough-ins are ongoing and crews are making great progress on all fronts.
We’re so grateful to everyone working on the site – especially in the extreme heat this week!
Key construction dates coming up:
In just one week, almost all of the trusses have been set, zip panels installed, and OSB and waterproofing installed on the roof! This week, framing and zip panel installation will continue and should be largely wrapped up by Friday. Next week, we’re looking forward to the start of the standing seam roof installation.
Thank you to everyone that has pitched in to make this amazing progress a reality!
Key construction dates coming up:
Framing is in full swing on all floors of the new building! We’re starting to see the various rooms and offices defined as framing progresses. Trusses were set yesterday and exterior sheeting should begin soon. It’s amazing to see how quickly everything is coming together!
Key construction dates coming up:
In just a couple of days, the heavy timbers have been set on the top floor, concrete was poured for the main floor, and framing has begun! Over the next few weeks, the building will start to look a lot different! We’re looking forward to seeing the progress as framing and exterior sheeting continues next week.
Key construction dates coming up:
Heavy timbers were set today! It was an impressive sight to see the crews lifting the heavy timbers in the air and setting them on the top floor. Thankfully the forecasted thunderstorms held off for a productive day. The plans for the rest of this week include pouring concrete on the second floor, finishing setting the timbers, and starting to frame the basement and first floors.
Key construction dates coming up:
The weather hasn’t cooperated as much this week, but the crews have still been working diligently! As of today, concrete has been poured on the top floor and the second floor is planned for early next week. The plans for next week also include setting heavy timbers on the second floor and starting to frame the basement and first floors. We are crossing our fingers for cooperating weather!
Key construction dates coming up:
We had a muddy visit to the site today! Since our last update two days ago, footers have been poured for the front portico/covered drop-off area and patio areas around the building. Weather permitting, concrete for the 2nd floor and 1st floor are planned to be poured tomorrow and Thursday, respectively.
Key construction dates coming up:
We are so thankful to the crews and companies that worked on the site the past several weeks! Thanks to their diligent work (and cooperating weather), we are a bit ahead of schedule at this time. The crews finished erecting the steel and the decking for each floor was installed. This week, the main focus is completing the final trenching for electrical service and preparing to pour concrete next week.
Key construction dates coming up:
It was a windy & dusty day at the site! The crews were finalizing the steel placement and laying the decking. The crew will also focus on preparation for framing this week.
Key construction dates coming up:
What a difference two weeks has made! Today on the site crews were setting the structural steel for the main floor of the building and installing decking on the main floor. All steel should be completed by the end of this week! The crew will also focus on preparation for framing this week. Weather permitting, next week should consist of installing all decking on each floor, preparations to pour concrete on top of the decking, backfilling dirt to the poured wall foundation, and trenching for electrical service.
Key construction dates coming up:
The basement concrete floor has been poured and set! An area that was just dirt a few weeks ago now holds a solid foundation. We’re looking forward to seeing the steel erected in the next few weeks. We have installed a new time-lapse video in the front of the building to capture the progress that will now be visible from the front.
Enjoy the time-lapse videos below from May 16 – May 23 (both the front and back of the building) and a site footage drone video from today.
Key construction date coming up:
The past week has seen a lot of progress – most notably, the finishing of the back wall and the laying of stone in the basement. Enjoy a time-lapse video below from May 9 – May 16 and a site footage drone video from today.
Key construction dates coming up:
So much progress has been made in the past several weeks! The back cinder block wall is almost complete and pipes have been laid throughout the building footprint. Enjoy a time-lapse video below from April 25 – May 9 and a site footage drone video from today.
Some key construction dates coming up:
If you happen to pass by the construction site, you’ll notice that you can now see large towers from a distance! In the past two weeks, both stairwells and the elevator shaft have taken shape. It’s exciting to see recognizable elements of the building being constructed – crossing our fingers for great weather this Spring and optimal conditions for construction.
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 image below to download our 2024 events calendar!
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 to support families along their bereavement journeys.
The textbook is published by Springer and is available for purchase. The editor for the book is Dr. Erin M. Denney-Koelsch.
To purchase the textbook or learn more, please visit HERE.
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 Kirklyn.
Read the full letter: Click Here
Read the full letter: Click Here
Make a donation online with a 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
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 year, in total, the ExtraGive raised $8.9 million was raised for over 453 local non-profit organizations.
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 from all over the United States who support the Clinic through the ExtraGive.
Every dollar you donate on November 17th during the ExtraGive will be stretched by a pool of more than $500,000 from local sponsors.
Donating is simple – here are three ways you can support:
For additional information, please contact the Clinic’s Development team at 717-687-9407 or giving@clinicforspecialchildren.org.
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 launch over three years ago, and read about how we collaborate with another local nonprofit that conducts research in the Amish community.
CLICK HERE to read the latest issue now!
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! THANK YOU!
Stay tuned for details about our 2024 race.
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 studies to support clinical trial readiness. The study was a broad collaborative effort led by clinicians and researchers at the Clinic for Special Children that included participants from around the globe and appears in the current issue of Annals of Clinical and Translational Neurology.
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, 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.
WHERE | The manually-timed 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 15 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.
5K ENTRY FEES
$30 | by August 21, includes t-shirt (entry & payment must be received by Aug. 21).
$35 | after August 21 (including race day) t-shirt while supplies last.
$10 | Kid’s color fun run for ages 10 & under. Kid’s color fun run to start after conclusion of main 5k race.
HOW TO REGISTER
1. You can register online HERE at Pretzel City Sports. Online registration has a nominal service fee and closes at midnight Weds. 9/13.
2. Mail registration form & payment to: Clinic 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 queries@clinicforspecialchildren.org or call 717-687-9407.
Event will be held rain or shine. No refunds, mailed awards or t-shirts. Results posted on PretzelCitySports.com & photos posted Mon., Sept. 18 on ClinicforSpecialChildren.org. Events are subject to change due to severe weather conditions, restrictions, or unforeseen circumstances.
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 our new building project.
CLICK HERE to read the latest issue now!
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 how the new building will allow us to care for families facing rare genetic disease for generations to come.
CLICK HERE to read the latest issue now!
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 than 1,500 active patients and conducts world-class research, while charging minimal fees for these services thanks to the generosity of the community.
However, as each year passes, the operations at our Strasburg location become more challenging. By growing to meet the needs of the community, we’ve outgrown our space. The Clinic is surrounded by preserved farm land so we cannot expand the current facility. On a normal day, the waiting room is full, exam rooms are at capacity, and the parking lot overflows.
In order to solve this problem and provide ongoing essential medical services to the community, the Clinic purchased a 10-acre property in Lancaster County near Intercourse, PA, to build a new building. Excavation at the site began in November 2022. Building construction started in March 2023 and will run through Spring 2024.
The new Clinic facility will include more exam rooms, conference rooms for educational events, waiting areas designed for families, and dedicated space for specialists like cardiology, ophthalmology, and audiology doctors.
We’re excited to finally share the news of this monumental project with you. Now, we need your help to get us across the finish line and reach our $12.5 million goal.
You can learn more about our current fundraising total and the project’s details on our “New Building” webpage by clicking the red button below.
We look forward to keeping you updated on our progress as we move closer to opening the new Clinic – a place of comfort, friendship, and hope for generations to come.
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.
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 image below to download our 2023 events calendar!
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 that supported our work in 2022!
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 the teams of Dr. Ayal Hendel at Bar-Ilan University and Dr. Raz Somech at Edmond and Lily Safra Children’s Hospital in Israel, and Dr. Jolan Walter University of South Florida at Johns Hopkins All Children’s Hospital and Dr. Kevin Strauss at Clinic for Special Children in the United States.
Our research concerns developing a gene editing technique in the laboratory for patients inheriting a combined immune deficiency due to a defective recombination activating gene 1 (RAG1). This gene functions in the normal development of T and B cells of the immune system. Patients with RAG1 deficiency may have prolonged or recurrent infections, and/or immune dysregulation appearing as autoimmune or inflammatory disorders, which could be fatal if not treated. Restoring the function of this gene in the laboratory could eventually lead to marked improvement or even a cure in patients with this serious genetic immune deficiency.
At the University of South Florida, Joseph Dasso, MD, PhD, has spearheaded the grant writing process with Jolan Walter, MD, PhD, and Krisztian Csomos, PhD, will lead B cell receptor repertoire investigations. The team of Ayal Hendel, PhD, will perform genome editing of RAG1 combined immunodeficiency, whereas that of Raz Somech, MD, PhD, including Yu Nee Lee, PhD, will investigate T cell receptor repertoires. The clinical team of Kevin Strauss, MD at the Clinic for Special Children will work with patients from the Mennonite and Amish communities in the United States. Collaborators at other national and international institutions may also contribute patients to our study, which could not be possible without many clinicians and scientists working together around the globe. We thank the families, our research and clinical team members, and the Jeffrey Modell Foundation.
See the latest publication of Drs. Hendel and Somech related to the technical approach in our study.
https://www.sciencedirect.com/science/article/pii/S2162253122003237?via%3Dihub
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 your unwavering support that we’re able to build hope for families facing rare genetic disorders. As we enter our 34th year of operation, we are reminded of the promises of our mission – to provide care to the most vulnerable, to continue searching for affordable and accessible treatments, and to serve the community of families that seek our care.
Sincerely,
Adam D. Heaps, MS, MBA
Executive Director
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.
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.
Read the full letter: Click Here
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
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.
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!
View the 2022 CSC 5k Race RESULTS HERE
View photos from the 2022 CSC 5k HERE
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 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.
WHERE | The manually-timed 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 16 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.
5K ENTRY FEES
$30 | by August 19, includes t-shirt (entry & payment must be received by Aug. 19).
$35 | after August 19 (including race day) t-shirt while supplies last.
$10 | Kid’s color fun run for ages 10 & under. Kid’s color fun run to start after conclusion of main 5k race.
HOW TO REGISTER
1. You can register online HERE at Pretzel City Sports. Online registration has a nominal service fee and closes at midnight Weds. 9/14.
2. Mail registration form & payment to: Clinic 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 queries@clinicforspecialchildren.org or call 717-687-9407.
Event will be held rain or shine. No refunds, mailed awards or t-shirts. Results posted on PretzelCitySports.com & photos posted Mon., Sept. 19 on ClinicforSpecialChildren.org. Events are subject to change due to severe weather conditions, restrictions, or unforeseen circumstances. Visit www.ClinicforSpecialChildren.org/events/5k for updates.
Dienner Home Improvement
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.
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 2022Dr. 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/
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
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.
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 sratcliffe@clinicforspecialchildren.org or queries@clinicforspecialchildren.org.
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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.
Read the full letter: Click Here
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
Read the full letter: Click Here
Thank you for cherishing the lives of children and adults facing rare genetic disorders.
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.
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.
For additional information, please contact Kelly Cullen at 717-687-9407 or kcullen@clinicforspecialchildren.org.
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.
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.
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, 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 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.
2021 Clinic for Special Children 5k Results & PhotosView the 2021 CSC 5k Race RESULTS HERE
View photos from the 2021 CSC 5k HERE
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.
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.
NurseAlexis 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 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.
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.
5K ENTRY FEES
$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.
HOW TO REGISTER
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 to: Clinic 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 queries@clinicforspecialchildren.org or call 717-687-9407.
Event will be held rain or shine. No refunds, mailed awards or t-shirts. Results posted on PretzelCitySports.com & photos posted Mon., Sept. 20 on ClinicforSpecialChildren.org. COVID-19 Statement: We will be compliant with current regulations.
Visit this website for updates.
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.
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.
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.
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.
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 (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 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.
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
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.
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 DayEach 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 RareDiseaseDay.org).
View a short video below from staff at the Clinic explaining why Rare Disease Day is important to us!
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).”
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.
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.
Sincerely,
Adam D. Heaps, MS, MBA
Executive Director
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.
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
Read the full letter: Click Here
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 year over $13 million was raised for over 520 local non-profit organizations.
Thank you for your support!
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 of more than $500,000 from local sponsors. We also have our own matching dollars for Clinic donors thanks to Hoover’s Bernina Sew, Nemours/A.I. duPont Hospital for Children and Earl R. Martin, Inc.! Donating is simple – below are three ways you can support the Clinic during the 2020 Extraordinary Give.
For additional information, please contact Kelly Cullen at 717-687-9407 or kcullen@clinicforspecialchildren.org.
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 2019 and originated from 26 states and 6 countries. Participants were divided into three cohorts based on timing of diagnosis and method of treatment. The study was a broad collaborative effort led by clinicians and researchers at the Clinic for Special Children (CSC) and will appear in Molecular Genetics and Metabolism. It establishes a safe and highly effective standard-of-care for the treatment of GA1, and should serve as a rich and valuable resource for dieticians, physicians, and GA1 families throughout the world for years to come.
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
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 project was a broad, international collaborative effort with contributions from clinicians and researchers at CSC and appears in The American Journal of Human Genetics in September 2020.
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 rare genetic disorders.
View the 2020 CSC 5k RESULTS HERE
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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 ideal addition to our staff. Her experience in working with adult patients will allow her to lead efforts in formalizing an adult services program at the Clinic. Dr. Loudon earned a bachelor’s degree in biology from Bryn Mawr College in 2012 and a medical degree from Sidney Kimmel Medical College at Thomas Jefferson University in 2017. She completed her family medicine residency at Penn Medicine Lancaster General Health (LGH).
Dr. Loudon is already a familiar face at the Clinic, as she has been visiting and seeing patients periodically for the past two years as part of a special program between the Clinic and LGH called the Clinical Genomics area of concentration. When the Clinic partnered with the Family Medicine Residency Program at LGH to create this genetic medicine training program, Dr. Loudon was one of the first to sign up.
Dr. Loudon will begin to see patients at the Clinic in August 2020. In her free time, Dr. Loudon enjoys spending time with her family and her two cats, visiting the beach, working on home improvement projects, biking, and running with her dog, Remi.
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, and walkers can complete a 5k route of their choice in support of the Clinic for Special Children. Your participation in our virtual 5k race this year will help us bring in vital fundraising to support our mission during this unprecedented time.
Online Registration HERE Paper application HERE
Download a Race Bib HERE Fundraise for the Clinic HERE
VIRTUALLY ANYWHERE | Make your own course! Run, jog, or walk a 3.1-mile course of your making to participate in our virtual 5k.
WHEN | Complete your 5k between Saturday, September 19th and Saturday, September 26th – you can run, jog, or walk at any time that week to participate. Registration will close on Saturday, September 26th.
VIRTUAL 5k DONATION | This year’s virtual 5k has a suggested donation of $25. Feel free to donate more or less, we’re grateful for your support this year! A note: this year’s registration will not include a t-shirt or goody bag due to the virtual nature of this race.
SUBMISSION OF TIME AND PHOTOS | Send us your time and/or photos of you participating in the #2020CSCVirtual5k! You can post your time and/or photos using the hashtag on social, email us at queries@clinicforspecialchildren.org, mail them to us (535 Bunker Hill Rd, Strasburg, PA 17579), or submit them via the online form on our website. We will be posting submitted photos and times on our website (ClinicforSpecialChildren.org) and on our social pages.
FUNDRAISING FOR CSC | Fundraise with family & friends in support of the Clinic for Special Children! Awards will be given to top fundraising individuals and teams!
You can sign up to create your own fundraising page HERE – click the orange “Start fundraising” button to create your page and start fundraising!
PRIZES | We will be giving out prizes to top fundraisers, random prizes to registered participants, and more! Details to follow.
QUESTIONS: Contact Kelly Cullen at kcullen@clinicforspecialchildren.org 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 2020 sponsors!
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. He will also join the Clinic’s Leadership Team.
To read more about Dr. Carson, you can visit his staff page HERE.
Congratulations, Dr. Carson!
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 visits, home visits for the Cherished Lives program, research studies, and immunization clinics.
To view the full letter from our Medical Director, Dr. Kevin A. Strauss, please click HERE.
May 14, 2020
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.
Click HERE to read more information, including a letter from the Union and Lancaster Auction committees and CSC leadership.
April 14, 2020
Our Medical Director, Dr. Kevin A. Strauss, has released an updated open letter to provide the Plain community with timely, critical information regarding COVID.
April 7, 2020
Our Executive Director, Adam D. Heaps, MS, MBA has released a letter sharing words of hope and gratitude during this challenging time.
March 20, 2020
Our Medical Director, Dr. Kevin A. Strauss, has released an open letter to provide the Plain Community critical information about COVID-19, what it means for them, and how we can work together to protect our loved ones.
March 17, 2020
Ensuring safety and well-being is at the heart of our mission. In that spirit, The Clinic for Special Children (CSC) is taking steps to protect our patients and their families from COVID-19.
How Can We Control COVID-19?
Although there is no treatment for COVID-19, protective measures can limit its impact in communities (Figure from CDC). 
In the absence of protective measures, the number of people infected (red shaded area) quickly overwhelms total hospital capacity (gray dashed line). Implementing protective measures early in the course of the pandemic (gray shaded area) has two effects: (1) The peak of the outbreak is delayed, giving medical systems more time to respond; and (2) Fewer people become infected.
What is the CSC Doing to Help?
What Can You Do to Help?
Protective measures save lives. This is our time to work together to protect the people we care about. Until COVID-19 runs its course, we encourage you to stay calm, stay safe, stay clean, and stay home.
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
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 we are saddened to cancel these 2020 auctions, the health of our patients, supporters, and community is our top priority.
If you’d like to support the Clinic during this time, please click HERE for a letter and opportunity to give from the Union and Lancaster auction committees and Clinic leadership.
Stay safe, stay home, and stay well,
The Clinic for Special Children
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 which can lead to irreversible brain damage or death. The study yields novel insights about the pathophysiology of bilirubin encephalopathy, demonstrates principles of effective phototherapy, and provides a framework to judge emerging molecular therapies. The project was a broad collaborative effort led by clinicians and researchers at the Clinic for Special Children (CSC) and appears in the journal Hepatology.
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 who are SMA carriers. 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. Historically the only treatment for SMA was care of the symptoms. However, recently approved targeted therapies have been shown to be effective in treating the disease. They are best administered before a patient shows significant symptoms of the disease so genetic diagnosis is key. One of the effective ways to identify families with a risk for the disease is to identify adult carriers.
Read the full press release HERE
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
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 Impact Awards honor ‘exceptional individuals, organizations, and industry innovators for their outstanding work for the rare disease community’. The CSC team will be accepting their award at the 2020 Rare Impact Awards program on Friday, May 15, 2020 at the Rock and Roll Hall of Fame in Cleveland, OH.
Read the full press release HERE
Learn more about the Rare Impact Awards HERE
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 with rare genetic disorders served by CSC. The WellSpan Health grant allows CSC to increase patient access to free, culturally sensitive, and well-coordinated comfort and end-of-life care that includes treatment from a specially trained palliative care nurse, primary care physicians, and specialists (if required) in the patient’s home.
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 represents the largest systematic study of MSUD, with regard to both cohort size and the duration of clinical follow up. The study was a broad collaborative effort led by clinicians and researchers at the Clinic for Special Children (CSC) and will appear in Molecular Genetics and Metabolism.
Read the full press release HERE
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.
Make a donation online with credit card: Give Here
Mail your gift with cash or check: Click Here
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 County’s largest day of online giving. This year over $10.9 million was raised for over 500 local non-profit organizations.
Thank you for your support!
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.
Donating is simple. On Friday, November 22, 2019 visit ExtraGive.org and select ‘Clinic for Special Children’ as your non-profit of choice.
If you would prefer to donate over the phone, please call us at 717-687-9407 between 9am-5pm and we would be happy to receive your gift over the phone.
Visit us on Friday, November 22 from 11am-3pm in Lancaster City at Penn Square by Central Market for our annual Whoopie Pie Toss!
For additional information, please contact Kelly Cullen at 717-687-9407 or kcullen@clinicforspecialchildren.org.
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 the Managing Physician and a Pediatrician at Roseville Pediatrics, Lancaster General Health Physicians, and Glen Zimmerman is Owner/Operator at Raytec, LLC.
To read more about each of the new members, visit our Fall newsletter (pg. 2) HERE.
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!
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 photos, please visit our Google Photos link here.
And a BIG thank you to our sponsors and volunteers who made this event happen!
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 living with rare genetic disease.
Online application HERE Paper application HERE
Runners, joggers, and walkers are invited to join us for 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 Amish farms.
WHERE: The race begins and ends at the Clinic for Special Children, 535 Bunker Hill Road, Strasburg, PA 17579.
TIMES: 9:00 a.m. start for 5k race. Awards ceremony, kid’s fun run, silent auction, and bake sale following the race.
Race day registration will be open from 7:45 – 8:50 a.m. Packet pick-up will be available Friday evening from 5-7 p.m. and race day morning at the Clinic.
ENTRY FEES:
$25 if registered by Sept 2, includes goody bag and t-shirt (Entry and payment must be received no later than
September 2)
$30 after September 2 (including race day), includes goody bag and t-shirt while supplies last
FREE Kid’s fun run for ages 7 & under. Fun run dash starting immediately after the 5k awards ceremony.
Online registration available at www.ClinicforSpecialChildren.org/events/5k (nominal service fee, closes at midnight, Wednesday, Sept. 18).
If paying via check, make payable to Clinic for Special Children.
Mail registration form & payment to: Clinic for Special Children, Attn: Kelly Cullen, PO Box 128, Strasburg, PA 17579
PRE-PACKET PICK-UP: available Friday, September 20 between 5-7 p.m. and race day from 7:30-8:30 a.m. at Clinic for Special Children.
AWARDS: Medals will be awarded to: 1st overall male and female and top 3 males and females in the following categories: 14 & under, 15-19, 20-29, 30-39, 40-49, 50-59, 60-69, 70+.
QUESTIONS: Contact Kelly Cullen at kcullen@clinicforspecialchildren.org or 717-687-9407
CLICK HERE to follow our Clinic for Special Children 5K Facebook event for information updates and newest event details.
Presenting Sponsor
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!
(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 will support the mission of the 
Clinic. Whoopie pie medals will be awarded to the first, second, and third female and male runners in the following age groups: 14 & under, 15-19, 20-29, 30-39, 40- 49, 50-59, 60-69, and 70+.
Read the full press release HERE!
For all the details on the 5k and to register, visit our 5k site HERE.
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 genetic diseases aren’t so rare for those who have them.
And most of all, share compassion for those who aren’t so different from yourself.
Order your copy of 30 Stories for 30 Years online HERE or call the Clinic at 717-687-9407.
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!
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 to walk better, bicycle, swim and do many other activities. He attends a local elementary school with the help of a mobility chair and a personal caregiver, but copes with some brain damage caused by a rare genetic condition. The condition, called Crigler-Najjar Syndrome, or CNS, affected him as a baby up until 4 years old when he had liver transplant surgery at the Children’s Hospital of Pittsburgh.
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.
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 a small subset of genetic diseases.
Read the full press release here
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!
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.
