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Canadians living with rare disorders say doctors lack knowledge, survey finds

Four out of five Canadians do not think family doctors are aware and informed about rare diseases and more than half say the same about pediatricians.
Less than six out of 10 feel they have access to all of the appropriate information they need.

Feb. 28 marks Rare Disease Day, a globally coordinated movement on rare diseases created in 2008.

Despite positive international perceptions of Canada's universal health-care system, a new Ipsos survey found that many Canadian patients and caregivers have seen an average of 5.9 different health-care professionals, while also receiving 3.2 wrong diagnoses during the process.

Rare disease affects one in 12 Canadians, according to the Canadian Organization for Rare Diseases (CORD). This means three million Canadians experience a debilitating disease. And yet, many of them are diagnosed too late or lack specialist care.

Ipsos surveyed over 500 Canadian patients and their caregivers. A strong majority of surveyed Canadians support having specialized centres that will connect local health-care professionals to any patient across the country.

“We know what has to be done, health leaders are ready to move, and we even have the funding allocated but while governments procrastinate, patients and families continue to suffer,” said Durhane Wong-Rieger, president and CEO of CORD, in a press release.

“These new survey results confirm that rare disease patients and families are being left behind, even as governments and health systems prepare to recover from the devastation of COVID.”

Challenges and barriers

Canada's universal health-care system might be internationally known, but among the wealthy countries, it is the only one without a comprehensive rare disease strategy to aid patients.

In 2019, the federal government announced funding to create a national plan for drugs for rare disorders. But little has been done, says CORD, to finalize the commitment, including providing funding to improve health-care services and patient support.

According to the Ipsos survey, 47 per cent of Canadians don't believe specialists have updated knowledge about rare disorders. 

If patients receive health-care services that allow them to move forward and undergo treatment, accessing drug therapies remains a barrier for many Canadians.

In fact, 68 per cent of Canadians with rare diseases know about federally approved medicines, but 45 per cent of them cannot access them.

For those who have access to their medicines, 63 per cent pay out of pocket.

“These survey results provide important guidance for Canadian policy makers in shaping Canada’s rare diseases strategy which is so urgently needed,” said Stephen Parrott, board chair of Canadian VHL Alliance. The organization advocates for Canadians with VHL, a rare inherited disease that causes cysts and tumours which can be cancerous. 

"Canadians with rare diseases and their families have waited far too long and with severe consequences that in many cases could be prevented. We need this strategy implemented without further delay.”'