Year: 2020

The Blank family graciously shared the story of their daughter, Linda Rose Blank,  for our Annual Giving Appeal.

You can watch their story below, read a letter from our leadership, and give to the Clinic to help support those with rare genetic disorders, like Linda Rose. 

How Can You Give?

Make a donation online with 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 Leadership

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 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.

1.  On Friday, November 20th (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. 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 20th, 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 20th!

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.

Read the full press release HERE

Read the full paper HERE

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.

Read the full press release HERE

Read the full paper HERE

Thank You, Results, & Photos!

Thank you to our 2020 Clinic for Special Children Virtual 5k participants for raising over $10,000! Over 130 registrants ran, jogged, biked, and walked all over the world in support of the Clinic. Your support this year allows us to continue to provide vital services to children and adults with rare genetic disorders.

View the 2020 CSC 5k RESULTS HERE

2020 Virtual 5k Race Gallery

[Best_Wordpress_Gallery id=”5″ gal_title=”2020 Virtual 5k”]

Thank you for participating in the 2020 CSC Virtual 5k!

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.

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.

Read the open letter here

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.

Read Adam’s letter here

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.

Read the open letter here

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?

• For the foreseeable future, CSC will postpone all non-essential gatherings and events, including the Kumme Essa dinner
• CSC will convert non-urgent appointments to scheduled phone calls; CSC will remain open for our patients who are sick or have urgent needs.
• For urgent office appointments, CSC will employ special precautions to minimize the risk of contagion.
• Objects of common contact (e.g. toys, books) will be removed from waiting areas.
• CSC will frequently sanitize common surfaces, use masks and gloves for patients who might be contagious, and limit all non-essential physical contact (e.g. handshakes).

What Can You Do to Help?

• Wash your hands often with soap and water for at least 20 seconds, especially after visiting with people outside the home, shaking hands, using the bathroom, or before preparing food.
• Avoid touching your eyes, nose, or mouth with unwashed hands. Avoid sharing hand towels.
• Limit shaking hands; ‘elbow bumps’ or ‘fist bumps’ are much safer.
• Unless necessary, avoid close contact with people who are sick.
• If you or a family member is sick, stay home unless you need a doctor’s attention.
• Cover all coughs and sneezes. If you use a tissue, throw it away. If you use your hand, wash it.
• Frequently disinfect common objects and surfaces in your home.
• Avoid large, non-essential gatherings, even if everyone appears healthy.
• Respect government recommendations to cancel unnecessary gatherings and limit contact with other people. Countries that abide by such restrictions have fewer infections and fewer deaths.

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.

Read the full press release HERE

Read the full paper HERE

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.

Read the full press release HERE

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

Read the full paper HERE