Behind the Mystery: Pompe Disease
February 28, 2019
Solving the Diagnosis Challenge
Approximately one in 10 Americans suffer from a rare disease. In the U.S., a disease is considered rare if it affects fewer than 200,000 people. If you’re struggling, know you are not alone.
That’s why we’re learning about Pompe disease, a rare neuromuscular disorder affecting the hips, thighs, and shoulders, as well as muscles in the lungs. Currently, it impacts one in 40,000 births. As a result, one’s ability to move and breathe is impacted.
On The Balancing Act’s Rare Disease Day Special, we are joined by Dr. Barry Byrne, a clinician scientist whose research is focused on Pompe Disease, and a patient who lives with the disorder. We’re also joined by Sarah Gonzalez, head of medical diagnostics at Sanofi Genzyme, who discusses how genetic testing plays an important role in obtaining a diagnosis.
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