Ian MacPherson was not expected to make it past his third decade.

But now he is 29, and dreams of a future where every Canadian with Pompe disease has access to the treatment he or she needs.

Pompe is a rare and often fatal genetic disease caused by an enzyme deficiency that creates muscle weakness throughout the body. Treatment for Pompe, is the subject of Extraordinary Measures, a new movie starring Harrison Ford, Brendan Fraser and Keri Russell. The film, which opens today, tells a fictionalized account of the true story of John Crowley, a New Jersey father of two young children expected to die of the disease. He teams up with a scientist played by Ford to develop a lifesaving drug.

MacPherson, who attended the premiere in Toronto last week, saw himself in the children grappling with the early symptoms of the disease. “At one point Patrick, (Crowley’s) son, loses the ability to throw breadcrumbs to geese, which is how they spent their time,” MacPherson says. “And that’s how the disease happens. One day you can do something, and then the next day you can’t.”

MacPherson was diagnosed when he was 28 months old. “I just wasn’t a regular baby,” he says. “I wasn’t sitting on time. I was happy but my motor skills weren’t there.”

MacPherson’s parents, who unknowingly both carried the Pompe gene, were told to enjoy the time they had with their son. The doctor did not expect a treatment to be developed in MacPherson’s lifetime.

But that doctor was wrong. MacPherson uses a wheelchair and a respirator, but thanks to the drug Myozyme, he has grown stronger.

MacPherson, president of the small but determined Canadian Association of Pompe, started treatment in 2006. Now the Hamilton native is studying political science at McMaster University, and plans to become a politician to fix this frustrating problem. Although he has been receiving Myozyme on compassionate grounds from the drug’s manufacturer, Genzyme, since 2006, MacPherson lives in one of only two provinces that, as of last year, fund treatment, which costs $500,000 to $700,000 a year. (Alberta also covers it.)

But MacPherson estimates there are 27 to 30 Canadians living with the disease, which particularly weakens the heart, skeletal muscles, liver and nervous system.

Annette Sebey, 43, is one of them. She lives in Perth-Andover, N.B. Because she cannot afford treatment, the mother of two is taking nothing but antidepressants, anxiety medication and muscle relaxers.

“It’s pretty discouraging,” Sebey says. “Everybody talks about the great health care of Canada … yet there are only two provinces that are funding (Myozyme).”

Source: Nicole Baute Toronto Star

Tagged: Awareness, Extraordinary Measures