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? - Ali 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 birthda