09/16/2013 02:52 EDT | Updated 11/16/2013 05:12 EST

Woman with rare disease says New Brunswick won't help with treatment

FREDERICTON - A New Brunswick woman says she is being denied treatment for a rare disease because the provincial government refuses to cover it, and she believes it is purely a financial decision.

Annette Sebey of Perth-Andover suffers from Pompe disease, an inherited disorder that creates an accumulation of a complex sugar called glycogen, which impairs the function of organs and muscles.

Sebey, 46, said Monday the enzyme replacement therapy Myozyme was approved by Health Canada in 2006 and without it she could end up in a wheelchair and on a ventilator.

The government has refused to cover the drug, she said, because it has yet to gain approval of the common drug review, which approves new drugs and therapies for coverage in Canada.

Sebey said Myozyme is a proven therapy and New Brunswick stands alone in refusing to cover it.

"My government is sentencing me to not only a premature death, but a steady downhill slide until I am in a wheelchair and most likely on a ventilator," she told a news conference.

Sebey is the only Pompe patient in New Brunswick and treatment is estimated to cost more than $100,000 a year.

"I don't doubt the cost is the simple reason I am being refused the drug that could very well stop the progression of this terrible disease," she said.

Health Minister Hugh Flemming said Myozyme was reviewed by the Canadian Expert Drug Advisory Committee and recommended for provincial drug coverage for infantile-onset Pompe disease, which the province has done, but there was insufficient evidence to evaluate the drug's effectiveness in late-onset Pompe disease.

"Significant challenges are posed by the effectiveness data and cost of rare diseases therapies such as Myozyme and we will continue to work with other provinces and territories to develop a national drug evaluation process for these drugs," Flemming said in a statement issued by his department.

"Certainly rare diseases can present unspeakable hardships for the families affected by them and our hearts go out to anyone in this situation. While prescription drugs can be beneficial, their use must be evidence-based."

But Sebey said Myozyme has proven to be effective in other adults across Canada and instead of waiting years for the review to approve the drug, other provinces are reviewing patients on a case-by-case basis to ensure the therapy is beneficial. She wants New Brunswick to approve coverage, monitor her, and if it doesn't work it can cancel the coverage.

New Brunswick is the only province without a catastrophic drug plan to help people cope with expensive drugs, but has promised a plan before the next election in September 2014.

However, Durhane Wong-Rieger, president of the Canadian Association for Rare Disorders, said a catastrophic drug plan won't help Sebey until the drug is approved for coverage in the province.

"I'm falling through the cracks because I have a rare disease," Sebey said.

As a way to get treatment for her disease, Sebey now travels to Florida every two weeks to take part in a clinical trial for an unproven therapy.