Pompe disease occurs in 1/40k births, affecting both men and women equally. Like many rare diseases, it is genetic. Pompe causes a reduced level of a specific enzyme, whose job it is to convert glycogen to usable energy. The glycogen builds up in cells to the point where it causes irreparable damage. Untreated infantile patients are very sick and usually, succumb to the disease by about one year of birth. Adults can have an onset of symptoms at any age. For all patients this is a progressive and debilitating disease.
CAP’s mission is to help persons everywhere be familiar with Pompe disease and to support persons with the disease. We are members of the International Association of Pompe and the Canadian Organization for Rare Disorders. CAP is the most active Pompe organization globally on social media.