The impact of rare diseases on Canadians

Overview of rare diseases in Canada

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.

Challenges Canadians with rare diseases face

Access to diagnosis and support

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.

Access to treatment

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.

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The social, financial and emotional burden of rare disease

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.

Pharmacists can help support Canadians with rare disease

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.

Pharmacists are:

• Knowledgeable. Using medications properly for best outcomes and keeping side effects to a minimum is at the core of what a pharmacist does.
• Available. Pharmacists take time with patients; listening, coaching and providing support and resources of value to patients.
• Aware. Pharmacists are experts in access to medications. Some, like Express Scripts Canada pharmacists, can help patients get provincial and private program funding assistance to help mitigate the cost of certain medications.
• Helpful. Managing a rare disease often requires help from a variety of healthcare professionals and support organizations. Pharmacists can make referrals to other healthcare professionals and suggest resources that patients may not know about or may have trouble finding on their own.
• Resourceful. Helping a patient or caregiver manage and make sure they receive their medications on time is something every pharmacist can help with. The Express Scripts Canada Pharmacy delivers medications to the address patient chooses, making sure needed medications are always on hand while saving trips to the pharmacy

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.

Further resources

Canada has a number of organizations supporting patients with rare diseases.

CORD - Canadian Organization for Rare Diseases

CORD is Canada's national network for organizations representing all those with rare disorders.

CORD resources

Cord also has a page full of resources for patients, families and those interested in rare disease

The Rare Disease Foundation

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.

Orphanet

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.