International Pompe Day is April 15. It’s a day that patients and families affected by Pompe disease can celebrate. Not because they’re affected, but because they know they are. The vast majority of the people with Pompe disease remain undiagnosed. Some may not have symptoms while others have some minor symptoms that have not been recognized as being part of Pompe disease, or part of any disease for that matter.  Others may be misdiagnosed with another condition.  The tragedy of so many people likely not knowing they have Pompe disease is that there is a treatment available for this rare condition.

Pompe disease is one of about 7,000 rare diseases. It’s not surprising that most doctors haven’t seen it. It’s not an excuse, but it’s a reality for many families affected by rare diseases.

A search on ClinicalTrials.gov shows that there are 36 active or recruiting trials listed for Pompe disease That’s a lot of effort going into something that affects so few patients. How few? Brad Crittenden, Executive Director for the Canadian Association of Pompe says, “We have less than 60 Pompe patients diagnosed across Canada when statistically we should have a thousand.”

That’s a lot of undiagnosed patients. “Some of those might go through their whole life without symptoms, but many of them are un- or misdiagnosed. We need to do better,” added Crittenden.

About Pompe disease

Pompe disease is a genetic disease that causes a lower than normal level of the GAA enzyme. Without that enzyme, glycogen builds up in the cells causing irreparable damage. It primarily affects skeletal muscles although in the infantile version there is organ involvement as well. Untreated, patients experience progressive decline in muscle strength that even affects their ability to breathe. This is a life-shortening or fatal disease, especially in infants who usually succumb to the disease in their first year of life. However, the availability of alglucosidase alfa has transformed infantile onset Pompe disease into a ‘treatable disease of infancy’ if the condition is diagnosed within the first months of life (Kishnani et al., Mol Genet Metab., 2010). At the other spectrum of the disease, patients with late-onset Pompe disease can go years, if not decades, with the disease and they may not know it.

Hopefully, awareness on April 15th can help bring attention to this treatable condition that is too often gone undiagnosed.