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Late-onset Pompe Disease - An 18- Month Diagnostic Odyssey

Rachel Foster is a patient with Pompe disease. As Rachel describes in this interview, her diagnosis took 18 months of doctors appointments before finally being referred to Duke University where Dr Priya Kishnani diagnosed her with late-onset Pompe disease. We talked to Rachel at Duke University's late-onset Pompe disease patient meeting held April 9, 2017. About Pompe Disease Pompe disease is a rare lysosomal disease that may present in childhood (early-onset) or in adulthood (late-onset). In both cases, the disease is due to a deficiency in the enzyme alpha-glucosidase (GAA). Symptoms vary greatly in this population but can be severe and ultimately deadly in the early-onset type.