Medical Stories - Pompe Disease: Sandra's Story

Medical Stories
Medical Stories
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Published 2024-07-24
The National Library of Medicine identifies Pompe disease as a genetic disorder that severely weakens a person’s muscles, but because of its rarity, it can be difficult for individuals to receive a correct diagnosis early on.

That was the case for Sandra, 60, who lived with the symptoms of Pompe disease for decades without knowing what her condition was. Medical Stories sits down with Sandra, who tells us about her journey to answer the medical questions she’s had for years.

Featuring renowned expert:
Barbara K. Burton, medical geneticist at Ann & Robert H. Lurie Children's Hospital of Chicago.

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All Comments (5)
  • @kepckatherinec805
    Pompe disease is new to me. I’m glad of this opportunity to learn about it. Sandra is a true joy, a ray of light. I’m glad to know a little about her, too. She is so much more than a woman dealing with disease.
  • @penelopesheehan5927
    What grace and courage. I’m glad to be aware of Pompe disease, and also to have had the chance to witness Sandra’s heroic life in progress.
  • @normasapp1815
    Sandra, thank you for sharing. You are an amazing and awesome woman. It is amazing what you can do once you set your mind to it. Keep the faith, I believe in the science of the treatment and cure is sure to follow.