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opinion: a rare disease strategy saves lives
people with rare diseases face misdiagnosis, financial hardship, lack of treatment options and early death.
feb 29 2020
3 minute read
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every four years, international rare disease day falls on that rarest of days, february 29th. this year 2020 is one of those rare years, and the canadian rare disorders community has even more reasons to celebrate. five years ago, the canadian organization for rare disorders launched canada’s rare disease strategy in collaboration with multiple stakeholders representing patient organizations, researchers, healthcare institutions and professionals, policy makers and industry. in 2020, we will update the strategy and action plans based on progress to date and identification of opportunities, priorities and synergies.
why we need a rare disease strategy
while each rare disease affects only a small number of individuals, there are more than 7,000 rare diseases that together affect one in 12, or nearly 3 million canadians. however, awareness, knowledge and treatment of most of these diseases are still limited and fragmented across the country. as a result, individuals face a host of extraordinary challenges, including misdiagnosis, unnecessary surgeries, social isolation, financial hardship, lack of treatment options and early death. all of these challenges lead to increased morbidity, loss of life or poorer quality of life and increased costs to the family, the healthcare system and ultimately the canadian economy.
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just two of the hundreds of stories we have heard from canadians living with a rare disease:
ian, at age 33, who had struggled since infancy with the symptoms of an undiagnosed rare disease, finally got a diagnosis at about the same time as his two-year-old daughter. it was somewhat serendipity since the first approved therapy had just become available and along with it awareness and diagnostic testing. “but we started her on therapy right away so hopefully she’ll never suffer the way i did.”
michael, 50, has an ultra-rare blood disease that leads to kidney failure, but has been denied the only approved treatment. “this disease destroyed my own kidneys as well as a transplanted kidney donated by my wife. [the irony is that] the doctors won’t allow another transplant unless i’m on this drug, but my province refuses to approve this drug for transplant patients. so i must remain on dialysis.”
the canadian organization for rare disorders (cord), as the umbrella organization for rare disease patients and patient organizations, brought together leaders from all sectors to develop canada’s rare disease strategy and launched it in parliament in may 2015. the strategy identifies five core goals, specifically, improving diagnosis, providing for expert care and centres of excellence, community support (including patient organizations), access to treatments and support for research.
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in 2016, when the ontario government agreed to develop a provincial rare disease plan, it used the cord strategy as a planning base. one of the exciting propositions in the ontario rare disease framework was a ‘hub-and-spoke’ model, linking a designated rare disease centre of excellence to community-based service delivery sites.
the strategy has served as the overarching framework for initiatives such as genome canada ’s pilot project to provide exome (genome) sequencing for patients with undiagnosed rare diseases. the purpose is not only to deliver a diagnosis and potentially a course of treatment to patients like ian, but also to demonstrate the value of offering genome sequencing in the canadian clinical setting.
access to treatment
to improve access to treatment, the provincial/ territorial governments have proposed a supplementary review process, which would allow therapies to be provided to patients based on designated criteria with follow-up monitoring and evaluation of impact. and, of course, cord was very excited to see the federal government’s commitment of $1 billion in the previous budget to set up a rare disease drug strategy (starting in 2022). and these steps will definitely help people with rare diseases get access to life-saving and life-altering medicines in a more timely fashion.
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revolutionary discoveries to diagnose, treat, and even cure rare diseases are already available. we want to ensure that canadian patients will benefit from all these advances.
durhane wong-rieger, phd, is president & ceo of the canadian organization for rare disorders (cord).
february 29 is rare disease day
durhane@raredisorders.ca
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