"I was devastated by the diagnosis," says Deb Assink of her daughter Megan's diagnosis with Pompe disease. "My husband took it so much better than I did. He was proactive where I was just completely overwhelmed."

She had reason to be. Her oldest daughter Kelsey had suffered with the disease for almost nine years before dying a year later from it. Her two other children have no symptoms of this genetic metabolic disorder, but Megan was born with the tell-tale signs.

Pompe disease is caused by a deficiency of the enzyme acid alpha-glucosidase, also known as acid maltase. This enzyme deficiency causes excess amounts of glycogen (stored glucose) to accumulate in muscle cells.

Glucose is used by our bodies to give us energy. Unneeded glucose is stored in muscles in the form of glycogen. It takes a complicated mix of enzymes to convert that glycogen into energy. If any one of those enzymes is missing, the glycogen cannot be converted and is left to do untold cell damage in the muscles. The result of this damage to the cells causes muscle weakness and respiratory difficulty.

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