Extraordinary Measures details father’s work to develop drug to fight Pompe disease

Canadians living with a rare genetic disease are counting on a new Hollywood film opening today to draw attention to their debilitating and often deadly condition.

Extraordinary Measures, starring Harrison Ford and Brendan Fraser, is based on the true story of a determined American father named John Crowley who set out to develop a drug to treat Pompe disease after two of his children were diagnosed with it.

People with Pompe disease are missing the enzyme that helps the body break down sugar. Without that enzyme, glycogen accumulates in the muscles, damaging them until they no longer work and eventually the person can’t move or breathe on their own.

When Ian MacPherson, a Hamilton, Ont., resident was diagnosed with Pompe disease at 2½ years old, his family was told to enjoy their time with him because he likely wouldn’t live to see his 30th birthday. He’s 29.

Every other week MacPherson, who uses an electric wheelchair and breathes with a tracheotomy tube, receives a drug called Myozyme through an intravenous line. It truly is a lifeline for him, MacPherson said.

“If it was not for Myozyme I would not be here. That is the plain truth,” he said in an interview. “Before Myozyme I was pretty much waiting to die.”

Myozyme is made by a company called Genzyme, which acquired the company formed by Crowley and a scientist named William Canfield, played by Ford in the film.

Crowley and Canfield developed an experimental drug for Pompe disease, but Genzyme ended up manufacturing a different one that its own researchers developed in collaboration with other scientists.

MacPherson has been on Myozyme for five years and while it’s not a cure for the disease, it helps stop the progression, and in some cases it can reverse some of the damage.

MacPherson and his family attended the Toronto premiere of Extraordinary Measures last week.

“It’s a very uplifting movie and it depicts Pompe very well,” he said.

“I hope the movie will raise a lot of awareness about Pompe and rare diseases in general and help our fight to get the governments to fund the treatment for everyone in Canada,” said MacPherson, who heads the Canadian Association of Pompe.

His treatment, costing $700,000 a year, is still covered by Genzyme, but others with Pompe have had to fight, or are still fighting, with their provincial governments to get on the drug.

All provinces fund the drug for babies under 12 months old who are diagnosed with Pompe disease but only Ontario and Alberta cover it for all other patients. There are estimated to be about 30 people in Canada with the disease.

Others may have a diagnosis of muscular dystrophy and don’t know they actually have Pompe disease.

MacPherson hopes the film will help improve diagnoses.

Guy Ashford-Smith, 52, thought he was just burnt out and “suffering from middle age” when symptoms showed up eight years ago, but then a near-fatal case of pneumonia triggered the diagnosis.

The father of three from Mississauga, Ont., who was forced to leave a job he loved and is now on long-term disability, just started on Myozyme two weeks ago. The price tag for his treatment is estimated at $1 million per year.

He knows the Extraordinary Measures story well and even met Crowley years ago at a conference, long before a book was written and a movie was made about his quest to save his children.

Ashford-Smith, who plans to hand out flyers on Pompe disease along with MacPherson at theatres showing the movie, hopes Canadians learn from the film.

“I hope they learn about the struggle that people have with rare diseases,” he said. “Pompe disease is one disease of many.”

Tagged: Awareness, Extraordinary Measures