N.B. woman with rare disease finds hope in Hollywood

A New Brunswick woman with a rare genetic disease hopes the release of a new Harrison Ford movie on Friday will help draw attention to her plight.

Extraordinary Measures is about the search for a drug to help the symptoms of Pompe disease, which causes glycogen to build up and damage the heart and other muscles until a patient can no longer breathe and dies.

Annette Sebey, 43, of Perth-Andover, believes she is the only person in the province who has Pompe disease and worries her story won't have the same happy ending as the movie, which describes the development of an effective drug treatment.

'They're putting a dollar sign on my life.' Annette Sebey

The drug, Myozyme, could help her live longer. But unlike Alberta and Ontario, New Brunswick doesn't cover the $500,000 annual cost.

"They're putting a dollar sign on my life," said Sebey. "What if it was one of their family members? We all deserve to live a life.

"If there's a treatment available, they should be entitled to get it, just like anybody gets treatment for cancer."

Slows progression

Myozyme isn't a cure, but keeps the disease from doing any more damage, said Sebey, who was diagnosed in May 2005. She has since had to quit her job as a pharmacy technician, can no longerride a bike, and finds it difficult to climb stairs.

"It can't give you back what you've already lost, but it slows the progression of it down," said the mother of two children, ages 15 and 11. "It would vary per patient, but the longer you go without it, you know, the worse you're going to get."

Meanwhile, Sebey takes several other drugs to help ease her symptoms, when she can afford to, including anti-inflammatories, muscle relaxants and anti-depressants.

New Brunswick does cover the cost of Myozyme for infantile-onset Pompe disease, but not adult, which is what Sebey has.

"Myozyme was reviewed by the Common Drug Review and the Canadian Expert Drug Advisory Committee recommended that drug plans list it as a benefit for patients with infantile-onset Pompe disease. There was insufficient evidence to evaluate its effectiveness and safety in other forms of Pompe disease," a Department of Health spokeswoman stated in an email.

"This recommendation has been accepted by the New Brunswick prescription drug program, and is now covered in New Brunswick for treatment of infantile-onset Pompe disease," she said.

Alberta and Ontario, however, have opted to cover the drug, along with several American states and European countries.

The rarity of Pompe disease is one of the main reasons Myozyme is so expensive, said Monty Keast, spokesman for Genzyme, which manufacturesthe drug.

"Those very high development and manufacturing costs really have to be spread across a very, very small patient population not only across Canada but worldwide."

Pompe disease affects about one in every 40,000 births. There are only about 30 people in Canada who suffer from the disease.

Hollywood ending

The movie Extraordinary Measures is based on a Wall Street Journal article and book, The Cure: How a Father Raised $100 Million and Bucked the Medical Establishment in a Quest to Save His Children, by Pulitzer Prize-winning reporter Geeta Anand.

It is the true story of John Crowley, who, in the late 1990s, discovered two of his three children had the debilitating disease.

Crowley quit his management consulting job to take work with a pharmaceutical giant in order to learn more about possible cures. The Crowleys moved from San Francisco to New Jersey to be closer to specialists who knew more about Pompe disease.

In 2000, Crowley left his job at the bigger company to head up Novazyme Pharmaceuticals Inc., a tiny biotech firm that had a promising therapeutic approach for the disorder.

Harrison Ford plays the maverick scientist whodevelops a potential cure.

In the end, Novazyme created Myozyme.