Approved treatment exists for Canadians with this progressive neuromuscular disease, but most adults can’t access it.
Spinal muscular atrophy (SMA) is a rare and serious neuromuscular disease that causes progressive loss of strength and motor function throughout an individual’s life. It affects children, teens, and adults, and prior to the availability of treatment, diagnosis meant either an early death or a lifetime of progressive disability — from difficulty breathing to never developing the ability to walk.
Although approved treatment is available in Canada that can slow down and even reverse disease progression, it remains inaccessible to most Canadian adults over 25 with SMA. Only the province of Quebec funds treatment for SMA patients of all ages.
Disease progression leads to diminished quality of life
Without access to treatment, adults with SMA continue to lose function over time, resulting in loss of independence, personal hardship, and a diminished quality of life.
Bryce, age 29, from Bowmanville, Ont., was diagnosed with SMA when he was 16. Initially, the disease progressed very slowly. “I was clumsy and couldn’t do sports, but I could still climb fences, get up off the ground, and run around,” he says.
All I want in life is to be able to work and support my family. I don’t think that’s a lot to ask, but without treatment, that’s impossible to ask.
Bryce
Today, while still able to walk, Bryce sees the disease progressing more rapidly than before. Without treatment, he fears he will lose that ability and that he won’t be able to hold his job as a sleep technologist for much longer. “I love my job, but every day I go to work, I can see it slipping away more and more,” he says. He’s extremely discouraged that his age prevents him from accessing the treatment he needs. “It makes you feel less like a human and more like a price tag, a number, or a burden.”
Kyle Vezzaro, 34, from Ottawa, has been confined to a power wheelchair since age 13 due to SMA. Through VHA Home HealthCare, he can live independently, but like Bryce, his age disqualifies him from public access to treatment.
He has a degree in political science and would one day love to run for public office, but his declining energy levels prevent him from holding a full-time job. He feels that having access to treatment would enable him to do so much more and is disappointed that Canada’s health system isn’t meeting the needs of the adult SMA community. “More and more countries provide full access to treatment and Canada doesn’t and yet we claim to have the best health-care system in the world,” he says.
We have wants, hopes, and dreams just like everybody else. The only difference is that many of us require life-changing treatment to accomplish our dreams.
Kyle Vezzaro
Jared Wayland, 34, of St. Catharines, Ont., is an active voice in the SMA community. He applied over three years ago for special access to treatment with the Ontario Ministry of Health, but so far has been denied. “It’s exhausting and frustrating trying to make people understand that this is a time-sensitive issue for everybody with SMA. Our lives are on the line.”
In January 2022, Jared became a first-time father, and even in that short time, he noticed a further decline in his functionality. “I might go to grab something from the cupboard, and my arm isn’t moving the way it used to, and with my job as a graphic designer, I’m finding it more difficult to control the mouse,” he says. As a result, he fears being unable to work or help his wife Sydney with caring for the baby and their home. “I pride myself on being independent and it’s really important to me to make sure I’m pulling my weight both with the baby and around the house,” he says.
Despite real-world evidence, adults continue to be denied access
With over 25 countries providing treatment to all SMA patients, regardless of age, why do so many adults in Canada’s SMA community face barriers to access? “A lot has to do with the reimbursement review process,” says Durhane Wong-Rieger, President and CEO of the Canadian Organization for Rare Disorders. “Canada tends to be reluctant to extrapolate clinical trial data to benefits,” she says.
Durhane Wong-Rieger
President & CEO, Canadian Organization for Rare Disorders
Yet, real-world evidence accumulated over the years has been reviewed and accepted in other countries to support expansion of SMA treatment access to adults. According to Susi Vander Wyk, Executive Director of Cure SMA Canada, the problem is that Canada only considers clinical trial data when making its funding evaluations — something she says shouldn’t apply to treatments for rare diseases like SMA.
Susi Vander Wyk
Executive Director, Cure SMA Canada
“Rare diseases cannot be painted with the same brush as non-rare diseases; real-world evidence must be admissible as valuable data that proves the benefit to the patient,” says Vander Wyk. “In Canada, we have patients on treatment right now who not only had their progression halted but actually had their loss of function reversed.”
That’s why Vander Wyk’s and Wong-Rieger’s respective organizations are advocating for a Rare Disease Drug Strategy to change the way in which decisions are made about treatment availability and what constitutes a benefit to the patient. “This information is readily available, the data is there to support it, and Canada’s experienced clinicians support access, and yet patients with a progressive disease are being made to wait. It’s devastating to watch,” says Vander Wyk.
Treatment access could unlock patients’ hopes and dreams
Having access to treatment would mean a lot for the SMA community. “We have wants, hopes, and dreams just like everybody else. The only difference is that many of us require life-changing treatment to accomplish our dreams,” says Kyle. “There are some extremely bright individuals within the SMA community and I think if we could break the chains and let them loose, it would be better for Canada and for the world,” says Kyle.
For Jared, finally having access to treatment could also remove a major source of stress and frustration in his life. “I think mental health is something that’s overlooked in a lot of this,” he says. “After years of all this advocacy work, which takes time from my family, my work, and my plans with no progress, I think my mental health would 100 per cent improve.”
Bryce also believes that having access to treatment would change his life dramatically for the better. “I’m very much on a downhill progression now, and access to treatment would stop or, at the very least, slow the progression of my disease. I don’t expect any treatment to give me all my strength back, but just slowing down the progression would let me live a quality life and not feel like I’m a burden on my family,” he says.
A simple message to decision-makers
Bryce’s message is simple: “All I want in life is to be able to work and support my family. I don’t think that’s a lot to ask, but without treatment, that’s impossible to ask.”
This article is sponsored by a Canadian health-care company.
