Today is International Pompe Day, a day to raise awareness about Pompe disease. Pompe is a rare genetic neuromuscular disease, and most of us who have it can share frustrating stories of misdiagnosis, including being told that nothing is wrong with us (when we clearly know there is). My diagnostic journey took me through just about every specialty department in medicine. Quite a few years and dollars were involved. By raising awareness, we might be able to help other Pompe patients and medical professionals reduce the time from onset of symptoms to diagnosis. This is important because, as I learned at the Duke Adult Onset Pompe Conference last week, “time is muscle.” While there is no cure, a treatment is available that slows the progression of muscle damage. The sooner treatment begins, the better.
To learn more about Pompe disease, please visit Pompe Community.