Signs & Symptoms
I have never been able to do a sit-up, and now I know that it was because of core weakness from a young age. I was misdiagnosed with asthma, which we now know was also due to weakened breathing muscles from Pompe disease. However, my diagnostic odyssey started because of unusual blood test results, not muscle weakness.
Symptoms started at 40
Diagnosed at 44
I grew up water skiing, paddling and playing tennis. My first career of 15 years was in forest product research. The physical part of the job was sometimes demanding, but I seemed to cope just fine.
I’m fortunate to live in a city located between two beautiful lakes, five minutes from one of them, in a place where other people visit for vacation. I’ve enjoyed dragon boating and being around positive people.
I also have Pompe disease. I’ve chosen to make patient advocacy my profession and am currently the executive director for the Canadian Association of Pompe. I’ve met many wonderful people, some affected by Pompe and some not. Rare disease is an odd phrase when it affects so many families.
“I look forward to when precision medicine no longer sees a difference between common and rare diseases.”