Did you know that rare diseases affect approximately one million Canadians, half of them children? Rare diseases are serious, life-altering and often catastrophic for patients and their families. Approximately 7,000 rare diseases have been identified, but since these illnesses affect a very small percentage of the population, scientific research to find a cure is limited. Treatment is available for only 5% of rare diseases, and are often extremely expensive.
As rare diseases only affect a small number of people, and these patients tend to be spread out across the country, awareness of the burden of rare disease on Canadians is low. The rarity of these conditions, coupled with the distance between patients’ access to diagnosis, treatment, and support service means medical assistance can be limited or unavailable to many people.
Many patients with rare diseases are spread out across the country. While many Canadians live in large cities, even they may discover that there are only a handful of experts familiar with their rare disease in Canada, and they may have to travel long distances to get a medical diagnosis and assistance. For patients living in rural Canada, the burden is even greater. In many cases, overnight stays are necessary to make sure appointments can be kept, adding to the financial burden for families.
Effective medications are not always available to treat many rare diseases. To make matters worse, only 60% of treatments for rare diseases are approved for use in Canada and these tend to get approved up to six years later than in the U.S. and Europe. In addition, medications for rare disease are often extremely expensive, sometimes costing hundreds of thousands of dollars a year, and may have to be taken for a lifetime. For many patients, access to treatments is a matter of life and death.
The patient burdens that come with the diagnosis of a rare disease are much the same as those for more common ailments, but the impact is often much more severe. Typical challenges experienced by rare disease sufferers include mistaken diagnoses and incorrect treatment, social isolation, lack of treatment options, poor health outcomes to name a few. It’s important to remember that because patients with rare disease are often children, the burden of caring for them falls to their families, increasing their social and emotional cost.
The 2019 Canadian Impact of Rare Disease Survey reported that caregivers can often feel unsupported by Canada’s health care system, leading to a sense of isolation and vulnerability. Caregivers are often required to find time to look after the family member with the rare disease, in addition to the rest of the family which leaves very little time to take care of themselves. The survey further revealed that up to 90 percent of caregivers can experience financial hardship and regularly miss days of work. Some leave the workforce altogether, having to choose between caring for a family member or staying in the workforce. It’s not hard to imagine the negative effects this has on families, personal wellbeing, mental health and relationships.
Although rare diseases are a challenge for Canadians, it’s important to remember there are resources that don’t require long trips and wait times to specialist clinics and hospitals. A pharmacist is a first-line resource that can help patients and families trying to cope with a rare disease.
Whether they are directly affected or not, many Canadians lives may be touched by rare disease at some point. Educating ourselves on the impact of rare disease and what we, our healthcare professionals and governments can do to help ease the burden for those affected by it is the key to improving the situation.
Canada has a number of organizations supporting patients with rare diseases.
CORD is Canada's national network for organizations representing all those with rare disorders.
Cord also has a page full of resources for patients, families and those interested in rare disease
The rare disease foundation serves to connect and serve communities of patients, caregivers, health care providers, researchers & supporters to transform the lives of those living with rare disease.
The Orphanet-Canada team is dedicated to providing data of the highest quality, and a platform for knowledge translation tools to the rare disease community.