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.
Cats, the record-breaking musical spectacular by Andrew Lloyd Webber that has captivated audiences in over 30 countries and 15 languages, is now on tour across North America!
From Broadway to cooking and health, stay tuned for another jam-packed episode of The Balancing Act.
Last month, we sat down with Laura Kronen, who shared her experience with managing diabetes. She's back to give us an update on life with Eversense.