Medical Minute 1-31: Cracking the Code: Pompe Disease

By: Vanessa Welch Email
By: Vanessa Welch Email

Physical therapy is still a grind for Monique Griffin. Just two years ago, she was busy marketing casinos in Las Vegas. But in 2009, she hit a wall, she couldn't breathe, or move.

"Nobody seemed to know what was wrong with me. They knew something was wrong at that point ... I wasn't crazy," she said.

Griffin was diagnosed with pompe disease, a form of muscular dystrophy. Her body stores too much sugar -- which destroys her muscles.

"How much worse is it going to get? I'm having these problems breathing, I'm in unbearable pain," said Monique Griffin.

"We need to combine strategies of different approaches to treating this muscle disease," said Barry Byrne, M.D., Ph.D., Pediatric Cardiologist at the University of Florida in Gainesville, FL.

The University of Florida's Doctor Barry Byrne was part of a team that developed the first and only clinical trial in the world to find a cure.

Harrison Ford portrayed him in a film 'extraordinary measures' documenting that process. The result: These "lumi-zyme" infusions, which allow Monique's body to process sugar. It was approved by the FDA in the past year. The two plus hour process is still tough on patients.

"They have to be committed to it and that's certainly the case in all the patients I've encountered," said Barry Byrne, M.D., Ph.D.

"Some people just call it stubborn. And finally that personality trait is coming in handy," said Griffin.

If anybody's committed, it's Monique.

After daily workouts doctors say she's starting to re-gain strength -- unheard of for her condition.

"These diseases just make you weaker and weaker and weaker ... and it's very much a miracle to take some of that back," she said.

A small, but major victory over a debilitating disease.

FOR MORE INFORMATION, PLEASE CONTACT: Lee Ann Lawson University of Florida(352) 273-7762


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