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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Chapters:
0:00 Sandra’s Story
1:23 What Is Pompe Disease?
2:32 Receiving a Late-Onset Pompe Diagnosis
3:27 How Pompe Disease Affects doordash Muscles
4:20 Worsening Symptoms d.c. united vs nashville and a Turning Point
5:07 Challenges of Misdiagnosis and Progression
7:29 Choosing Not to Be Defined by Disease
8:52 Treatment Options and Enzyme Replacement Therapy
9:37 Living Fully With Pompe Disease and Hope for the Future
