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What Is Pompe Disease?

My friend's 9-year-old daughter was just diagnosed with Pompe disease. I'd like to reach out to her and offer my support, but I'm not sure how. Can you tell me a little about this disease and what to expect?

Pompe (pom-PAY) disease is a rare genetic condition that makes muscles get weaker over time. It can be very severe, affecting many systems in the body.

It happens when there is too much of a type of sugar, called glycogen, in the body's cells. This glycogen buildup stops the cells — especially those in the body's muscles, including the heart— from working as they should.

Children with Pompe disease may have heart problems, muscle weakness (which can make walking very difficult), and breathing problems. The younger a child is at diagnosis, the more severe these symptoms can be. For example, infants with Pompe disease are at risk for life-threatening problems from an enlarged heart, and can have trouble breathing, eating, and gaining weight.

In the past, many infants with Pompe disease died before their first birthday, but today those odds are improving. In 2006, a treatment approved by the U.S. Food and Drug Administration (FDA) called "enzyme replacement therapy" was found to extend the lives of babies with infant-onset Pompe disease, and to also help people with later onset of disease.

Care from a team of medical specialists — including a cardiologist , neurologist , dietitian, and respiratory therapist — helps many children with Pompe disease live well into adulthood. This is especially true when the disease is diagnosed in older kids, like your friend's daughter. Physical therapy and occupational therapy can help. Researchers are working on gene therapy treatment that they hope will enhance or even replace current treatment.

A Pompe disease diagnosis can be a blow to any family. Your friend is probably dealing with some difficult emotions right now. Even though she may not ask for help, she needs it. Offer to help with practical things, like running errands, getting dinner on the table, or babysitting any other kids while she's at a doctor's appointment with her daughter. Helping out with everyday tasks can make managing this new reality a little easier for your friend.

Reviewed by: Elana Pearl Ben-Joseph, MD
Date Reviewed: 28-05-2018