Perspectives of The Pompe World

Pompe Disease is far from a simple disease. It is complex, involves multiple body systems, and can present in varying ways. This makes it incredibly difficult to understand. People affected or parents of affected children devote much time and energy into understanding it better. A way to spread awareness for this is to tell and teach others about it—but what’s the best way to explain something that is so complex? It must be considered that not everyone can understand it to the same depths so, a simplified approach is typically best when telling others about this disease.

To put it simply, it is a disease that causes the slow breakdown of muscles.

In a healthy person, when we eat sugar, some of that gets stored in the form of glycogen. An enzyme called GAA breaks this glycogen down to use as an energy source. A person with pompe lacks GAA, so instead of this breakdown occurring, it is accumulating. Some people lack this enzyme completely and some experience a range of deficient levels. This is the reason it can vary in severity of symptoms. A great analogy someone shared with me to consider for this mechanism is to think of a garbage truck. A person without Pompe never accumulates their garbage because their truck comes regularly. For someone with Pompe, their garbage truck either only comes around sometimes, or never comes at all, meanwhile the garbage is accumulating and affecting their health.

As this progresses, the symptoms will become worse. These symptoms can include heart issues, respiratory problems, muscle weakness, feeding issues, sleep issues, speech problems, and a slew of elevated lab work. Some people progress very slowly and don’t experience debilitating symptoms until adulthood, some people progress rapidly and experience severe symptoms at birth or soon after. Some people fall somewhere in between.

There are treatment options which include a weekly-biweekly infusion to replace some of the enzyme that is lacking. This slows the progression of the disease but is not a cure. This infusion is lifelong until a better treatment option or cure is available. People with pompe disease do not start this treatment until they have reached a certain level of severity of symptoms and clinical presentation, so everyone is at different spots in their treatment journey.

This disease is genetic, and has to be passed on from both parents. Each child born of those parents has a 25% chance of having the disease. The children who do not have the disease have a 50% chance of being a carrier.

I hope that this simplified explanation can be passed along to family and friends in an attempt to help them understand it without having to comb through complex and outdated explanations that Google has to offer. For anyone attempting to learn more and spread awareness, we extend a huge thank you for your efforts.