Clinic for Special Children Podcast
Publication date: 5 Feb 2022
Located in Central Pennsylvania, the Clinic for Special Children has over the past 30 years engaged with the local Amish and Mennonite population in providing innovative solutions to specific health needs. Having originated from relatively small numbers of founder families going back hundreds of years, these communities do not display the broad degree of genetic diversity as the general population at large. Consequently, some heritable conditions are virtually non-existent, whereas some rare disorders are more prevalent. The latter circumstance has allowed the clinic to rise to the forefront in providing practical, but advanced care in the prevention and treatment of certain rare diseases.
Through the utilization of carrier, prenatal and newborn screening along with other diagnostic tools, patients and families have benefitted from therapeutic interventions that have managed the severe consequences of metabolic disorders such as Maple Syrup Urine Disease (MSUD). This heritable disease stems from the inability to break down certain amino acid components of proteins, resulting in elevated levels that can potentially lead to neurodegeneration. With early diagnosis, defined dietary regimens can be administered to patients that can largely prevent severe disease. The clinic has successfully treated nearly 200 cases of MSUD.
This success has fueled the development of broader genetic screening tools at the clinic that can target many more rare conditions. One such tool is known as the Plain Insight Panel (PIP) that detects over 1,300 rare disease associated genetic variants in a single test. The test can be used to detect carriers and diagnose potential disease states at birth, enabling a proactive approach to medicine, where therapeutic interventions can be done before symptomatic disease appears. Conventional medicine tends to follow a reactive model, where diagnosis and treatment doesn’t start until a patient becomes ill. For rare disorders, early detection and treatment can be life changing, with MSUD being a textbook example.
Through respectful community engagement, the clinic has established itself as a trusted partner in its quest towards positive outcomes in the battle against rare genetic conditions. Serving a mostly uninsured and underserved population, the clinic has managed to obtain financial support from donations as well as events such as quilt sales.
In this RareShare podcast, hear directly from the clinic’s Medical Diirector, Dr. Kevin Strauss, Laboratory Director, Dr. Erik Puffenberger, and Research Operations Director, Karlla Brigatti, as they describe the clinic’s history, mission, key accomplishments and challenges. Their in- depth discussion provides a fascinating glimpse of how a dedicated clinic and supportive community can work together to make groundbreaking inroads in the treatment of rare diseases.