The drug for an extremely rare genetic disease which affects Quebecers at a higher rate is not available to everyone under government health insurance.

Morquio A is severely debilitating and impacts major organ systems in the body. A form of Mucopolysaccharidosis, it is a significant bone and joint disease that comes with a host of other symptoms.

The disease causes a buildup of chemicals that progressively affects every organ in the body, explains Dr. John Mitchell, director of Pediatric Endocrinology at the Montreal Children’s Hospital.

“They have respiratory problems, they have problems with their hearing, problems with their vision, they can get problems with their spinal cord as well,” he said.

Out of 100 people who have been diagnosed with Morquio A in Canada, about 40 of them are from Quebec.

“When we look back at the people who arrived in Quebec, there were probably a few of them that carried this gene and because of the way the population grew, we had slightly more people in Quebec with this disorder than other places around Canada,” said Mitchell.

Doctors say the first signs of Morquio A often occur when children are very small. They may have considerable pain or difficulty walking. There is no known cure, but there is a drug that slows the progression of the disease.

Vimizim is a synthetic version of the enzyme Morquio A patients lack in their blood.  The enzyme replacement therapy was fast-tracked through the approval process in Canada due to the tremendous unmet need the treatment provided patients.

“Generally these drugs are very expensive; we're talking $400,000 to $500,000 a year per patient,” said Mitchell.

Melissa Bilodeau, who has Morquio A, has been able to get a weekly IV treatment that takes several hours. Within the last two years, her private insurance started paying for Vimizim, which she said changed her life.

“I got my driver’s licence. I do my groceries by myself, I do so much stuff by myself that I didn't before, and that's really helped me be more active in society as well,” she said.

Diagnosed when she was four years old, Bilodeau underwent four surgeries before completing elementary school.

She started using a wheelchair after that.

“When people look at me in the streets, for example, you don't notice it until you're in a wheelchair, but people look at you a lot, and for me it's just about understanding why they're sometimes uncomfortable with my disease but telling them about it, not being in my bubble because of that,” she said.

Armed with confidence and candour, Bilodeau’s goal is to make the drug accessible through provincial healthcare, not only private insurers.

“If you give this to a two-year-old, it's kind of a cure for him. He's not going to get worse and it's really big. It's a big deal because it's less suffering, more dignity, quality of life for the child but also for the parent,” she explained.

“Quebec has evaluated the drug and has decided not to put it on their list of medications, but there are ways of going around that and trying to get the patients on the treatment,” explained Mitchell.

Doctors apply for patients on a case-by-case basis.

“It's a lot of money, but from another point of view, we don't have a lot of other options for these patients and it's not their fault that they have a disease that's rare,” he said.

The treatment has given Bilodeau a new lease on life, something she is grateful for.

“I feel the need to give back, to help people as well, because I know I'm lucky to be in the world that I live,” she said.