Month: February 2020

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