Let's start at the beginning

When she was just 6 weeks old, Mia Hanley's parents, high school sweethearts Dawn and Sean, knew there was something wrong with their only child when she began having difficulty feeding. At 4.5 months, her pediatrician detected a heart murmur and sent Mia to a cardiologist. After several tests were performed, the heart doctor learned Mia's heart was enlarged, bigger than a grown adult's, and the child was in cardiac failure.

The prognosis was grim. Doctors told Dawn and Sean to expect the worst as testing began to find out what was causing Mia's heart to fail.

After several weeks, they had an answer: POMPE DISEASE. A rare form of Muscular Dystrophy in which a missing gene causes the body to fail to produce an important enzyme that breaks down glyocgen. A natural substance created by sugar and used by the body for energy, glycogen, when not used, is reabsorbed by the body. When it is not, due to the missing enzyme, the glycogen builds up in the body, negatively affecting all muscles, primarily the skeletal muscles and heart.

Nine days after this diagnosis, on the day she turned 6 months old, Mia was at the Duke University Medical Center receiving her first infusion known as enzyme relacement therapy. This is where a synthetic copy of the missing enzyme is infused via IV, offering the baby girl a chance at life.

To Dawn and Sean's delight, Mia began to show signs that the treatment was working! Mia lived past her first birthday, something the doctors warned would not happen. Soon she turned 2, then 3 and 4! At 5, Mia is preparing to enter Kindergarten in the fall! Though she walks and talks with difficulty, she is cognitively developing at an age-appropriate pace.

But this treatment, which must be repeated once every other week and takes up most of Mia's day, is NOT a cure. A cure would be replacing the missing GENE, and, according to Mia's mom, doctors are close to being able to do just that!

The friends and family of Mia Hanley want to speed this process up. By raising money for research, it is our hope that we can learn more about the long term affects of Pompe Disease, the long term affects of treatment, and eventually a CURE!

Please support Mia as she continues to fight this disease, and the researchers at Duke as they work toward finding a cure!