What Is Pompe Disease?

Pompe disease is a genetic condition that can be very debilitating, affecting many systems in the body. It occurs when there is too much of a certain type of sugar, called glycogen, in the body's cells. This buildup of glycogen stops the cells — especially those in the body's muscles, including heart muscle — from functioning normally.

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 who are diagnosed with Pompe disease develop life-threatening problems from an enlarged heart and liver, 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 Myozyme® was found to extend the lives of babies with infant-onset Pompe disease.

Fortunately for older kids like your friend's daughter, the odds of survival are even greater. With close monitoring and treatment from a cardiologist, neurologist, and respiratory therapist, many children with the disease live well into adulthood.

Learning that a child has been diagnosed with this complex condition is a devastating 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. Start by offering 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. And of course, lend a sympathetic ear when she needs it most.

Reviewed by: Steven Dowshen, MD
Date reviewed: January 2010

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