NATIONAL HARBOR, Maryland—With global attention currently riveted on the COVID-19 pandemic, Canada’s Durhane Wong-Rieger, PhD, wants to make sure the world’s 300 million or so people living with rare diseases aren’t forgotten.
Wong-Rieger, a psychologist by profession, is president and CEO of the Toronto-based Canadian Organization for Rare Disorders (CORD). She also chairs Rare Diseases International (RDI), a global alliance of more than 80 rare disease organizations active in 100 countries.
When it comes to diagnosis and treatment of rare disease in Canada, the prognosis isn’t very encouraging.
“Obviously, Canada’s healthcare system is universally funded. Everybody gets access to public healthcare, and the system is available to everybody, including immigrants. That makes it much more equitable in terms of people being able to get a diagnosis and having access,” she said.
The trade-off is that while Canadians with diabetes, hypertension, heart disease, or breast cancer get excellent care, those with spinal muscular atrophy, Alagille syndrome, or cholangiocarcinoma probably will not.
“We don’t do anywhere near a good job as the US in terms of specialized diagnosis and care,” Dr. Wong-Rieger said. “If you have normal health issues, you get extraordinary care in Canada. But if you need specialized care, you’re not going to have the sophistication you’d get in the United States.”
She added: “You’ll also have a much longer delay to access to some of those specialized services, and even not-so-specialized services like a CAT scan or an MRI. A lot of our genomic sequencing gets sent to the US, and in fact, many Canadian patients will go to the US to get testing or diagnosis, even surgeries.”
Canada has the third-highest costs for medicines in the developed world after the United States and Switzerland, and unlike hospital and physician care, coverage for therapies is not universal; about 2% of Canada’s 37.8 million people have no coverage at all.
At present, only 60% of treatments for rare disorders make it to Canada, and some get approved up to 6 years after approval by the US Food and Drug Administration (FDA) and the European Medicines Agency (EMA).
“People with rare disorders in Canada are missing out on treatments that could save or significantly improve their lives,” CORD says in its mission statement. “This needs to change.”
Established in 1998, CORD represents 102 patient advocacy groups ranging from the Association de Patients Immunodéficients du Québec in Montreal to the Vancouver-based Sickle Cell Association of British Columbia.
“We consider ourselves to be the little sister of NORD,” she said, referring to the National Organization for Rare Disorders, based in Danbury, Connecticut. “We do all the things that NORD does, only with about 1/30th of the staffing.”
Among other things, Dr. Wong-Rieger said, “we work on national policy and we try to advance awareness of rare diseases, and access to everything from diagnosis, to centers of excellence, to therapies and other kinds of support for patients who are living with rare disorders.”
While Canada’s rare disease profile is generally similar to that of its southern neighbor, there are some marked differences. French-speaking Québec has an unusually high prevalence of Charcot-Marie-Tooth disease, while perinatal hypophosphatasia occurs with particular frequency among Mennonites in the prairie province of Manitoba.
Canada has one of the world’s highest rates of multiple sclerosis. One in 400 Canadians (about 90,000 people) has MS, a disease that’s even more common in the prairies and Nova Scotia, though nobody’s sure why that is.
In 2019, CORD achieved a victory when Canada’s federal government committed $1 billion to setting up a national rare disease strategy, beginning in 2022, and then a $500 million annual commitment to keep it going.
“Even $500 million a year doesn’t go very far,” she said. “But this, for us, is very exciting, and could give us a whole new approach to how we assess and fund therapies for rare diseases.”
Dr. Wong-Rieger has helped compile a list of 204 essential drugs for rare diseases, not including rare cancers—based on similar lists compiled by the FDA, the EMA, and the World Health Organization. She’s also lobbying the United Nations to adopt a resolution requiring that rare diseases be identified and included in any country’s universal health coverage.
“Only 5% of diseases have a therapy. Of those, fewer than 10% of people in developed countries —including the US and Canada—have access to medicines. Around the world, probably less than one-tenth of 1% of patients are getting access,” she said. “This declaration will recognize rare diseases not just as a health issue, but as a social, an economic, and a women’s rights issue.”