Priya Kishnani, MD, Chief, Division of Medical Genetics and Professor of Pediatrics at the Duke University School of Medicine, discusses the need for a team approach to care for Pompe disease.
Pompe disease is a rare inherited lysosomal storage disorder due to an inadequate level of the enzyme acid alpha-glucosidase (GAA) that results in the accumulation of glycogen in the body and causing damage – particularly to muscle tissue. Treatment is available for this condition that can dramatically attenuate disease progression. Since early signs and symptoms of Pompe disease can be misleading, getting an early diagnosis can be difficult until some irreversible damage has occurred. Another advantage to newborn screening is that the diagnosis of late-onset Pompe disease, which can often take years or decades to diagnose, can now be monitored early in the course of the disease to allow better access to early, non-invasive therapies as well as a better understanding of the natural history of this complex disease.
As Dr. Kishnani explains, a team of specialists are needed to care for all symptoms of Pompe disease. This team could include a physical-, speech-, and/or occupational therapist, dietician, anesthesiologist, gastroenterologist, dentist, pulmonologist, sleep specialist, neurologist, and many others. These specialists are not only crucial to the management of individual Pompe disease patients, but may become involved on the research side which benefits the larger Pompe disease community.
To learn more about Pompe disease and other rare lysosomal storage disorders, visit checkrare.com/diseases/lysosomal-storage-disorders/