Laurie Patry is a 19-year-old esthetician and electrologist who has Morquio syndrome, a genetic disorder that affects approximately 50 people in Quebec.
People with Morquio syndrome often have spinal deformities, are affected by dwarfism and have major difficulty with walking, among a host of other problems.
Patry has already undergone two hip operations.
However, she says, it's a drug she received during a clinical trial that has changed her life.
She says Vimizim has allowed her to stand for hours at rock concerts and go snowshoeing with her dog.
The quality of life the drug has afforded her is priceless, she says.
However, the drug is not covered by Quebec's public health insurance plan and may cost Patry upwards of $200,000 a year.
Clinical trial inconclusive
Stéphane Ahern, the chairman of the scientific committee that approves drugs for Quebec's public insurance plan, says Vimizim's tests were inconclusive.
"There were high-responders within the treated groups — so people who were receiving Vimizim — but there were also high-responders with the group who were receiving nothing," Ahern says.
Gale Ouellet is the director of the Quebec coalition for orphan diseases (another term used to describe rare diseases with limited treatment options).
The geneticist says since it is so difficult to find drugs to treat rare diseases, they shouldn't be written off quite so easily.
"We say that the patients who are willing to try it, they should be able to try it and we can see whether it is efficient or not," Ouellet says. "It's done in other countries."
Ahern says Patry can also appeal to Quebec's health insurance board and ask that an exception be made in her case.