Air Canada Centre, May 8, 2014 – Game four of the first-round playoff tilt between Original Six rivals the Toronto Maple Leafs and the Boston Bruins.
London teen and Leafs super-fan Stefan Gacic was thrilled to be there, in box seats no less, a bonus pick-me-up from Sick Kids Hospital.
For more than two years Gacic and his mom Verica had travelled from London to Toronto every week to take part in a clinical trial for a new treatment for an “ultra-rare” genetic disease — only about 50-100 Canadians are afflicted — with no cure.
So after all that Stefan finally gets to the arena and what do the boys in blue do? “They choked” in overtime, he recalls wryly.
It was frustrating, but a Stanley Cup for Toronto isn’t the only thing the Gacics are waiting for. Like the other 20 or so Ontarians afflicted with Morquio A syndrome, one of several types of the debilitating and progressive disease called Mucopolysaccharidosis, they’re waiting for a cure.
Stefan is missing an enzyme that breaks up a certain type of protein that accumulates in every cell in his body like plaque, impairing growth and organ function and ultimately causing death. In his case, his spine started to curve by age two but more noticeable signs like laboured breathing and an enlarged chest didn’t present until he was about seven.
By age nine, he couldn’t play soccer anymore and needed help walking. Ear and throat infections became the norm but luckily he met the criteria for the clinical trial.
Now preparing to start Grade 9 at Laurier Secondary School with hopes of working somewhere in the sports industry when he grows up, Stefan has seen the enzyme treatment slow the progression of his Morquio A syndrome.
He’s gone from needing his mom to be within arm’s length to swimming the length of the pool on his own, and still walks on his own where most kids with the disorder are in a wheelchair by the time they’re his age.
His mom credits the treatment, approved on July 7 by Health Canada, but months or years away from being covered by the province, for his improvement.
“The systems in Europe are much faster (to approve new drugs),” she said. “Switzerland, Austria, even Italy fund this therapy but it’s so slow here. These kids, because it’s progressive, they don’t have any time (to wait).”
As a trial participant, Stefan will continue to receive the enzymes for free, but dozens of other families are on tinterhooks as each provincial government has its own debate over whether to fund the therapy, according to Kirsten Harkins of the British Columbia-based Canadian MPS Society.
The cost of Stefan’s treatment hasn’t been hammered out yet, but other enzyme replacement therapies run $150,000 to $300,000 per patient per year or even more depending on how rare the disease is.
Eight patients in Ontario took part in the trial. There were two trials in Quebec; Harkins said a relatively large number of cases occurred in rural areas in that province.
Her own son suffers from MPS I (Stefan has MPS IV-A), one of the handful of MPS types that has been treatable for more than a decade. After 11 years of enzyme replacement therapy, he shows “virtually no” progression and some aspects of the disease have been reversed. In fact he plays on the varsity golf team at his college.
“The coverage depends on where you live so it’s very stressful for the families,” she said. “(The therapies) have been a game-changer, they’ve completely changed the outlook for patients all around the world.”
Started by a mom in Flin Flon, Manitoba, the Canadian MPS Society is celebrating its 30th anniversary this month. They started focusing on research in addition to family support about 10 years ago, and just surpassed $1 million in scientific funding.
“There are several types of MPS but parents can still feel very isolated,” she said. “It’s important to find a cure, but families need help in the meantime.”
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