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'this disease will slowly rob me of everything': why are canadians living with rare diseases waiting for treatment?

covid has proven we can quickly set up infrastructure without long-term clinical data. it's time to do the same with rare diseases, says durhane wong-rieger, president and ceo of canadian organization for rare disorders.

by vanessa hrvatin

published feb 28, 2022

last updated jun 01, 2023

5 minute read

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5 minute read

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why are canadians living with rare diseases waiting for treatment?

sasha kirkland, pictured with her husband, mark and son maks, lives with spinal muscular atrophy (sma). supplied

for sasha kirkland, it’s hard to look back over the last decade of her life and not feel discouraged. the 36-year-old lives with type 3 spinal muscular atrophy (sma), a rare progressive disease that causes muscles to weaken over time. over the last 10 years her condition has gotten progressively worse; she can no longer walk without assistance and was forced to leave her full-time employment. but two years ago, there was a glimmer of hope. alberta, where kirkland lives, expanded access to the drug spinraza — the first drug approved by health canada to treat sma which slows progression of the disease — beyond just those living with type 1 sma. although she didn’t meet the new criteria, the province stated that patients not meeting the expanded funding criteria would be considered on a case-by-case basis.

to date, kirkland’s neurologist has submitted an application for her to access spinraza six times but each one has been denied.

“it feels like a blow to the chest,” says kirkland. “it makes me feel like my life isn’t worth as much as other people’s, and that my ability to contribute to society isn’t as great, either.”

kirkland is one of roughly three million canadians living with a rare disease, many of whom can’t access treatment. there are several barriers for rare disease patients to access innovative therapies in canada, including the price tag associated with these drugs, which ranges from $100,000 to more than $2 million per patient each year. this price is too steep for most people to pay out of pocket, leaving the onus on provincial and territorial governments or private insurers to cover the cost. if not, the only way patients can get access is through clinical trials, patient-support programs sponsored by pharmaceutical companies, or health canada’s special access program.

‘rare disease drug strategy should focus on infrastructure’

this challenge in accessing treatment is what the federal government is looking to address in a national rare disease drug strategy, backed by a $1 billion proposed budget over two years starting in 2022. president and chief executive officer of the canadian organization for rare disorders (cord) durhane wong-rieger says the strategy must focus on building infrastructure that will make it possible for clinical trials to be done effectively and efficiently in canada so more companies will be inclined to market their products here. currently, only 60 per cent of treatments for rare diseases make it into canada, and most get approved up to six years later than in the usa and europe.

another barrier is the health technology assessment a new drug goes through after receiving health canada approval, which looks at the drug’s value and overall effectiveness. many drugs that treat rare diseases are tested in small clinical trials with high uncertainty in terms of which patients they work for and how well they work, so they don’t pass the assessment.

“this is where we think the biggest change will happen with this rare disease drug strategy,” says wong-rieger. “we need to approve these drugs, make them available now, and then have the infrastructure to monitor patients in real time to see how they’re working. the drugs are there and could make a profound difference in peoples’ lives, so we don’t need to wait until we have all the evidence or until we’ve done these big clinical trials.”

wong-rieger points to the roll-out of covid-19 vaccines — which was coordinated quickly despite not being backed by years of clinical trial data — as exactly what the rare disease space has been advocating for.

“we got the vaccines and learned they were waning after four months just by studying patients in real time,” she says. “we’re not asking for money to be put toward drugs — that’s a given, just like having the money for vaccines was a given. we need the $1 billion to be invested in setting up clinics, communications and long-term monitoring, just like we’ve seen with covid.”

“i can’t say things like, ‘our 10-year anniversary is coming up so let’s save money and go on a trip,’ because i don’t know what life is going to look like for me in 10 years,” says sasha kirkland. supplied

wong-rieger says the rare disease drug strategy likely won’t consist of a fully fleshed out framework; it needs to be flexible as new infrastructure is put in place and more innovative therapies become available. and if canada gets it right, she’s hopeful this strategy could act as a blueprint for other diseases.

“the idea here isn’t let’s just open the doors and make every drug available to everyone,” she says. “we want to make sure the drugs coming in are the right drugs and that they’re going to the right people. we need to have a process in place to ensure they’re coming in at prices and in circumstances that are affordable and sustainable in the long term.”

despite the rare disease drug strategy being announced in 2019, cord developed a broader strategy back in 2015 focused on many aspects of rare diseases, ranging from diagnosis to community support, but it never gained federal attention.

for sasha kirkland whose condition deteriorates a little more each day, expanding access to drugs and support for rare diseases can’t come soon enough.

“i can’t say things like, ‘our 10-year anniversary is coming up so let’s save money and go on a trip,’ because i don’t know what life is going to look like for me in 10 years,” she says. “will i be able to hold my own head up on a plane? will i even enjoy travelling? i can’t plan for the future. this disease will slowly rob me of absolutely everything.”

vanessa hrvatin is a b.c.-based freelance writer.

interested in other stories about rare disease advocacy? read about catherine boivin’s life as an advocate for people living with spinal muscular atrophy, john clark’s work in the myeloproliferative neoplasms community, and why riyad elbard is fighting for canadians living with thalassemia.

february 28 is rare disease day, a global movement focused on improving equity in social opportunity, health care, and access to diagnosis and therapies for people living with a rare disease. to find out how you can support canadians living with rare diseases, visit the canadian organization for rare disorders.

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'this disease will slowly rob me of everything': why are canadians living with rare diseases waiting for treatment?

covid has proven we can quickly set up infrastructure without long-term clinical data. it's time to do the same with rare diseases, says durhane wong-rieger, president and ceo of canadian organization for rare disorders.

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'this disease will slowly rob me of everything': why are canadians living with rare diseases waiting for treatment?

covid has proven we can quickly set up infrastructure without long-term clinical data. it's time to do the same with rare diseases, says durhane wong-rieger, president and ceo of canadian organization for rare disorders.

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