VANCOUVER -- Three months ago, Dr. Lorne Clarke gave 10-year-old Nicklas Harkins a heart-wrenching ultimatum about his future in hockey.
After careful analysis, the University of sa国际传媒 geneticist told Nicklas and his father Todd that the boy's rare genetic disorder put his spine at risk if he continued to play hockey.
"I had a tear in my eye," recalls Todd, a former NHL player, of the day they met Clarke at sa国际传媒 Children's Hospital.
Instead of walking away from the game he loved and his dream of one day playing professionally like his father had, Nicklas eventually convinced Clarke, an internationally renowned expert in biochemical genetics, that he could still participate in the game he'd played for more than half his young life.
"I told the doctor I wanted to play goal," Nicklas said.
The transition from forward to goal has gone so well that Nicklas was recently chosen as backup goalie for the '95 Vipers, an all-star spring team comprised of the best 10-year-olds in sa国际传媒's Lower Mainland.
During the winter, Nicklas plays on a team with some of the best players in the province.
Nicklas shows mild symptoms of his disease. Because of the enzyme imbalance first diagnosed at age five, he has delayed physical development, corneal clouding, hearing impairment, mild cardiac and respiratory irregularities and joint stiffness. His hands are slightly curled, making his strong on-ice performance all the more amazing.
Children who suffer from the enzyme problems generally have a shortened life expectancy as well.
"Nicklas is a perfect example of how these new therapies can impact these devastating diseases," Clarke notes. "There is hope."
The thought of Nicklas playing a high level of competitive hockey was about the last thing on his parents' minds when they were told their young child had Mucopolysaccharidoses Type 1 (MPS1). Worldwide, there are 3,000 to 4,000 cases of MPS1.
Nicklas, who has a moderate form of MPS1, spends every Wednesday in hospital getting an expensive but crucial enzyme treatment.
The treatments, which take about five hours, cost about $400,000 annually. In sa国际传媒, the cost is fully covered by the provincial government.
Canadian Organization for Rare Disorders Durhane president Wong Rieger argues there must be a national policy on rare diseases and orphan drugs.
"sa国际传媒 is the worst country in the world to live in if you have a rare disorder," she said.
"Our health-care system wasn't designed to take care of people with rare disorders. If you need anything other than what is standard, good luck."
When sa国际传媒's health ministers meet shortly in Newfoundland, a report on the expensive and often life-saving drugs for rare diseases will be tabled, marking the first time both levels of government have tried to deal with the issue of rare diseases and orphan drugs.