Canadians with rare diseases report challenges accessing care: study

Many Canadians living with rare diseases have struggled for years to be diagnosed and treated, according to the results of a new national survey conducted by market research firm Ipsos Canada.

Ipsos, on behalf of the Rare Diseases of Canada, conducted a survey of 528 Canadian rare disease patients and their immediate caregivers between 26 October and 28 November 2022 .

They are critical for Canadian patients and their families in all critical areas: long delays in diagnosis, gaps in information about disease and knowledge, lack of access to medicines, and lack of coordinated and accessible care. I have found that there are significant delays and failures. The results were announced on Tuesday, just in time for Global Rare Disease Day.

In a media release released on Tuesday, Stephen Parrott, President of the VHL Alliance of Canada, said: “These findings will help Canadian policy makers in shaping an urgently needed rare disease strategy for Canada. VHL, or von Hippel-Lindau disease, is a rare genetic disorder that causes cysts and tumors that can become cancerous.

“Canadians with rare diseases and their families have been waiting too long, often with serious preventable consequences.”

Diagnosis challenges

Research has found that patients and caregivers felt their access to diagnosis and professional treatment was delayed due to a lack of knowledge about rare diseases by medical professionals.

Four out of five, or 80%, said they thought their family doctor was unaware or uninformed about rare diseases, and 62% said the same about their pediatrician. Nearly half, or 47%, say they don’t believe experts have up-to-date knowledge about rare diseases.

Respondents said they waited an average of 3.7 years for an accurate diagnosis. Along the way, they reported seeing an average of 5.9 different medical professionals and making an average of 3.2 incorrect diagnoses.

Information and knowledge gap

Respondents affected by rare diseases often reported feeling ‘overwhelmed’. They said they felt the need to connect with others with rare diseases, but faced obstacles in doing so.

Nearly two-thirds, or 63%, say they do not have access to a care coordinator.

The survey also revealed a widespread lack of counseling support for patients with rare diseases, with almost 3 out of 4, or 74%, not receiving counseling support at the time of diagnosis. Another 70% say they do not receive adequate emotional and psychosocial support.

Fewer than 58% of respondents felt they had adequate access to all the information they needed, and only 43% said they had a trusted contact person assigned for additional information.

Less than 1 in 10 agreed that education, disability and employment services were well aware and informed about rare diseases.

Access to treatments

Respondents with rare diseases often said it was difficult to access appropriate medications for their condition.

Only 6 out of 10 said they had access to the right medication for their condition.

A majority of respondents, 63%, said they had out-of-pocket costs, and 36% said they were unable to access their prescribed medicines because the cost sharing was too high.

Statistics from the Ipsos survey of Canadians with rare diseases for Rare Disease Day 2023 (CNW Group/Canadian Organization for Rare Disorders/Ipsos Canada)

While 68% of Canadians with rare diseases are aware of treatments approved by Health Canada, 43% say they do not have easy access to prescribed treatments. Another 32% of her said she knew of off-label medications that might “help her condition,” but almost 63% said they didn’t have access to them.

Rare Disease Center Promise

The Ipsos survey asked respondents to vote for their favorite from two alternative solutions proposed as key features of a federally funded national rare disease strategy.

One solution is to create a new national list of medicines to treat rare diseases. Another is the creation of a rare disease center dedicated to treating rare diseases.

Four out of five, or 80%, said they would prefer the development of a rare disease center, and 20% said they would prefer a new national drug list. Most of those who voted for the new national list of drugs to treat rare diseases hope it will provide better drug coverage at lower cost and make drugs more accessible to all Canadians regardless of location. I’m in

Most of those who voted for the Rare Disease Center said they want to benefit from “comprehensive support, access to clinical trials,” and more efficient and accessible treatments.

“Treatment for patients with rare diseases goes beyond access to rare and expensive drugs,” said one anonymous caregiver, according to the survey results. It will address various gaps that exist in and treatment.”


The Rare Disease Society of Canada has emailed the database with an open link to this Ipsos-developed study. We also shared the link at the Canadian Rare Diseases 2022 Fall Conference, November 21-22, 2022.

A total of 528 respondents completed the 15-minute online open link survey from October 26th to November 28th, 2022. All states responded in both official languages, 90% English and 10% French. They were distributed across urban (47%), suburban (34%) and rural (20%) locations. Confidence intervals cannot be calculated when the data are unweighted, open links are used, and the population universe is unknown.

In the second phase, we conducted 10 in-depth interviews with patients and caregivers about their experiences navigating the system.

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