Cracking The Code: Pompe Disease

FRESNO, Calif.

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," Monique Griffin, suffers from Pompe disease, told Ivanhoe.

She 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," Griffin recalled.

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

The University of Florida's Dr. 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 Griffin'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," Dr. Byrne added.

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

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," Griffin concluded.

A small, but major victory over a debilitating disease.

Griffin now writes a nationally recognized blog about Pompe disease. Experts say occurrences are so low because Pompe disease mimics the symptoms of other forms of muscular dystrophy. Therefore, the disease is difficult to diagnose.

If this story or any other Ivanhoe story has impacted your life or prompted you or someone you know to seek or change treatments, please let us know by contacting Marsha Hitchcock at mhitchcock@ivanhoe.com

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