TORONTO – Stefan Gacic, 14, was diagnosed with Morquio A Syndrome and said it was hard for him to get out of bed.
But a few years ago he began taking part in clinical trials for a drug called Vimizim which breaks down the complex sugars, helps reverse some changes to his body, and stops the disease from progressing.
“Overall patients have reported improved endurance, energy levels, well-being, maybe less symptoms of pain or stiffness and generally feeling better,” said Dr. Raiman.
Stefan goes to SickKids for treatments every week.
“I have more energy. I can breathe better. I’m not getting as sick as I used to,” he said. “I can go with my friends farther and do stuff they want to do.”
Vimizim has recently been approved by Health Canada but is not funded by the provincial health insurance. Annual treatment can cost upwards of $100,000.
Right now, Gacic’s treatment is paid for as part of the clinical trial.
In a statement, a spokesperson with the ministry of health and long-term care explains a drug is reviewed by two different committees, which provide recommendations. After that a final decision is made. But the entire process could take years.
Morquio A Syndrome is a rare genetic condition that affects 50 to 100 people across Canada.
“The body is missing a chemical enzyme responsible for breaking down complex sugars,” said Dr. Julian Raiman at The Hospital for Sick Children. “Without that missing enzyme these sugars build up and cause changes throughout the body affecting many systems, primarily the skeleton, affecting growth, the shape and positioning of bones.”
It is a debilitating and progressive disorder which can lead to stunted growth, curvature of the legs, difficulty walking or breathing.
Life expectancy for people with disease is shortened as well with some passing away in their teens to mid-30s.