Russell’s Jonathan Pitre drew upon his own painful experience with Epidermolysis bullosa to make an appeal Monday on behalf of the three million Canadians who suffer from rare diseases.
“We’re here today to try to make everyone understand just how tough it is out there for people with rare conditions,” Pitre, 15, told an Economic Club of Canada forum designed to highlight the need for a national rare disease strategy.
Pitre suffers from one of the most challenging conditions known to medicine: a rare genetic disease that causes his skin to blister and shear from the slightest contact.
People with EB are missing key structural proteins that connect the upper layer of skin (epidermis) with those below it. The result is that their skin can simply fall apart. Young people with the disease are sometimes called “butterfly children” because of their fragility; they often die from skin cancer in their 20s.
Pitre told Monday’s Economic Club audience that he has no treatment options in Canada, although an experimental therapy — it involves chemotherapy followed by a blood and marrow transplant — has shown some success in the United States. He’s been told the same treatment might become available here in five years, but Pitre’s worried he might not live that long.
“That’s a long time,” he said. “If we wait for our five years, when I’m 20, we’re not even sure if I’ll make it to that time … I want to keep going. I want to fight for EB. I want that cure.”
In September, Pitre underwent skin graft surgery in an attempt to close some of the open wounds on his body. But the grafts didn’t hold and he has since cancelled a second round of skin grafts. Earlier this month, he had a gastric feeding tube inserted in an effort to strengthen him for more surgery. Blisters in his throat sometimes make it difficult for him to eat.
“It (the G-tube) is to help me get stronger, get bigger and fatter, just so I can heal better,” he says. “We’re hoping that if my body gets that push, we’re hoping my skin will be able to heal much quicker if I get that second skin graft.”
Durhane Wong-Rieger, president of the Canadian Organization for Rare Disorders (CORD), told Monday’s event that Pitre’s experience speaks to the need for a rare disease strategy in Canada. Many people with rare conditions face barriers to diagnosis and treatment, she said, and don’t receive the same kind of quality health care as patients with common diseases.
She urged Canadians to write to Health Minister Jane Philpott to press the Liberal government to create a strategy that improves the detection and treatment of rare diseases, while providing patients better access to innovative therapies and new clinical trials. CORD has developed such astrategy that it wants politicians to consider.
“The strategy is designed to make sure the money we spend on rare diseases produces a good outcome,” Wong-Rieger said.
Pitre said only those with EB, and his mother, Tina Boileau, really know what it’s like to face the daily challenges imposed by his disease.
“Living with a disease that no one really knows about is tough because you can feel very isolated and lonely because as much as you can try to explain it to everyone — why it hurts and when it hurts — many people still don’t understand.”