Living with Pompe disease

Sean was diagnosed first. He shares how he learned of this diagnosis and then delivered the news to his family. With Sean’s encouragement, Cheryl also sought testing and was diagnosed with Pompe disease. They share their perspectives on the support they provide for each other and the importance of having family tested.

This is their story.

I have a little saying. I have Pompe; 
Pompe does not have me.

Siblings Sean and Cheryl’s 
Pompe disease journey

Family members talking
Ready for a family health history conversation?

Talk with your closest relatives (parents, siblings, and children) first before you move on to grandparents, aunts and uncles, and nieces and nephews. Next, reach out to third-degree relatives, including cousins and the “greats,” such as a great-grandparent, and ask them about their health history.

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There are several thousand rare, genetic diseases.

Talk to your relatives to find out if any conditions run in your family.

NEXT: INHERITED DISEASES