Kim Templeton
Sponsor: Hard Rock

Rhode Island
Mia (Age 4)
Neuromuscular Disorder

Since birth, Mia of Cranston, R.I., had trouble eating and gaining weight. She underwent extensive testing that eventually led to a diagnosis of Pompe disease, a rare, genetic neuromuscular disorder. The disease results in an enlarged heart, breathing difficulty and muscle weakness. Before enzyme replacement therapy was introduced, most children with this disease did not live beyond their first birthday. But Mia, with the help of her talented doctors at Hasbro Children’s Hospital, has consistently beaten the odds.

Mia, now 4 years old, receives enzyme replacement therapy intravenously every two weeks at the hospital. To keep Mia and her family close to home, her doctors obtained special permission from the Institutional Review Board to administer the new enzyme medicine that today is keeping Mia alive and healthy.

“If this [Mia’s diagnosis] happened just a few years ago, we would most likely not have Mia with us today,” said Dawn, Mia’s mom. “Back then we would have been told she would not live and to just make her comfortable. Now there is hope.”

Mia—who loves to joke, play with dolls and blow bubbles—and her family consider every day a miracle.