Rare diseases focus of awareness on feb 29

February 28, 2008

Rare diseases focus of awareness on Feb. 29
www.canoe.ca

By LINDSAY O’REILLY, Sun Media

Trevor Pare will graduate from high school this spring but is not sure if he’ll be heading to university in the fall — because he’s not sure if he’ll be alive.
Trevor is one of 10% of Canadians who live with rare illnesses, and one of those taking part in the first International Rare Disease Day tomorrow.
Organized by the Canadian Organization for Rare Disorders (CORD), the day is meant to raise awareness of the more than 6,000 rare illnesses many live with, and the need to provide sufferers with "fair and equal access to treatment."
Trevor has lived with Pompe disease, a genetic muscle-wasting illness, all his life.
He is one of only four people in Alberta with the disease.
Trevor’s doctor, Robin Casey of Alberta’s Children’s Hospital in Calgary says he expects Trevor "would have been dead several years ago without Myozyme treatment."
On May 29, however, trial funding will run out, leaving Trevor’s parents to wonder how they will afford the $500,000-a-year treatments that keep their son alive.
The family has no private health insurance and, like many pricey rare disease treatments, the drug is not covered under Alberta Health and Wellness.
If Trevor stops the treatments now, doctors estimate he’ll be dead in three months.
When he was diagnosed at four months of age, doctors told his mom Linda to "take him home and love him," since he probably wouldn’t survive past age two.
Linda refused to give up on him and put him in the jolly jumper each day for exercise.
He eventually walked and went to school — even played T-ball.
But in seventh grade his condition worsened quickly, confining him to a wheelchair.
Shortly after, his doctors and parents learned of a new treatment called Myozyme and got him into a trial.
Since then — thanks to eight-hour infusions every two weeks — he’s regained control of his head movement and says his legs and arms feel "much stronger."
Linda says she hopes International Rare Disease Day will create "enough awareness of all rare diseases, that the government will step up and say, ‘This is something we should be looking at; these people need help.’ "
"It’s not their fault they have this disease, it’s just the luck of the draw — and they weren’t very lucky," she says.