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Marking Rare Disease Day 2022: Why Every Minute Matters

Monday, February 28, 2022

by Fred Little, Rare Disease Canada Lead, Pfizer Canada


When we hear the term “rare disease”, our first instinct is to think that such diseases are uncommon, which is misleading given that 1 in 12 Canadians are affected by a rare disorder, two-thirds of whom are children.

That means that nearly 3 million Canadians and their families are facing a debilitating disease and for many, the journey to diagnosis and getting the proper treatment and care they need is a long road.

Although scientific advancements offer the possibility and hope of new treatments, for many rare diseases, Canada has yet to implement a distinct, coordinated approach to diagnosing and treating rare diseases. In fact, there is yet to be an established, consistent definition for rare disease across Canada.

When we look at other countries – like France, the United States and Germany for example – the management of rare diseases is much more regulated. It’s time that we follow in their footsteps.

One of Pfizer Canada’s employees, my colleague Frances, recently reflected on the journey of one of her family members from Ireland who was diagnosed with transthyretin amyloid cardiomyopathy (ATTR-CM), a rare heart condition that can lead to heart failure.

While Frances’ family member lives in another country, she can draw many parallels between his experience and the experience of so many Canadians, particularly those who live in remote areas, and often need to wait months, if not years, to receive proper diagnosis and care due to factors like low awareness of rare diseases among healthcare practitioners and the need for referrals to hospitals or clinics that have clinical expertise for a given disease.

Prior to being diagnosed with ATTR-CM, Frances’ cousin was very active and loved doing activities with his kids; everything from surfing and hiking to Cèilidh dancing. One day he started experiencing breathlessness and was no longer able to partake in the activities he once loved doing. From there, his health  continued to decline rapidly.

It took travelling to another country and 3 different referrals before he received the proper diagnosis. By the time that he saw the specialist who gave him the correct diagnosis, a year had already passed.

This experience relates back to what Frances has unfortunately seen play out in Northern Ontario specifically. Although her family member lives in another country, his experience is unfortunately a pattern that plays out in not only Northern Ontario, but throughout our country as well – where depending on location and resources available, it can take patients months and even years to receive a proper diagnosis.

It was just a few years ago, as she recalls, that in Northern Ontario there was a lack of specialists who were trained to diagnose and treat ATTR-CM. While these patients were likely to see a cardiologist, due to low awareness about the condition, the majority of patients ended up being referred to a larger centre hours away in order to receive their ATTR-CM diagnosis.

For France’s cousin, the further away he was from Dublin, a larger urban centre in Ireland, this increased his time for a referral to a specialized center, time to a proper diagnosis and access to treatment. This delay to diagnosis and treatment means disease progression.

This is why early recognition and diagnosis is critical. For ATTR-CM and the countless other rare diseases that have been discovered, increasing awareness of the condition among the medical community to expedite access to the appropriate care is paramount.

We must ensure that equity is at the forefront of our efforts to improving care and access for Canadians living with a rare disease.  Equity does not only mean social opportunity, non-discrimination in education and work, it also means equitable access to health and social care.

The key takeaway that I want to relay here is that patients deserve better, and the time is now for public and private stakeholders in the Canadian healthcare ecosystem to work together to shape a world-class and sustainable rare disease framework that supports patients across the continuum – from detection to diagnosis and treatment.

I hope that this day serves as a reminder as to why establishing this framework is imperative for improving the lives of the many Canadian families that are currently trying to find the answers and solutions they need.

When it comes to rare disease, as Frances would put it, every minute truly does count.

To learn more about the importance of a Rare Disease Framework, please visit the Canadian Organization for Rare Disorders or the Regroupement québécois des maladies orphelines for Quebec.