“it’s like i’m not considered important enough.” – why most adult canadians with spinal muscular atrophy (sma) feel left behind

bryce, a 29-year-old from bowmanville, ont., should feel like he is in the prime of his life, but a severe neurodegenerative condition threatens his career, independence and very sense of self. bryce lives with spinal muscular atrophy (sma), a rare and debilitating disease that has caused progressive loss of muscle and motor function throughout his life. approved treatments exist, but they are out of reach for about two-thirds of adult canadians with sma because of their age and province of residence. despite these restrictions, hope still remains for expanding treatment access for adults with sma .  

without treatment, bryce faces the prospect of continuous decline and worsening disability for life, and the constant loss has taken a significant toll on both his physical and mental health. “ sma has overtaken my entire personality,” he says. “i’m a shell of the person i used to be. nowadays, because of being unable to access treatment, i have zero confidence in myself. i’m struggling in my life and my job.”   

bryce fears losing his ability to continue working as a sleep technologist and support himself as he loses more and more strength and ability. he also worries about becoming a burden to his girlfriend, who he increasingly relies on for support with day-to-day activities. “ i don’t need treatment to restore my strength back to the way it was when i was younger,” he says. “i need it to slow down the progression of the disease so i’m not just counting down the days until i’m in a wheelchair.”  

treatment for sma has fundamentally redefined what it means to live with the disease, but quebec is currently the only province that provides all sma patients with full access, regardless of their age. other provinces provide publicly funded access for pediatric patients, and in some cases, for patients up to the age of 25. however, that still leaves the majority of canadian adults with sma ineligible for urgently needed treatment, leading them to progressive and inevitable loss of strength and ability over time.  

bryce is gradually losing his ability to play guitar due to sma. credit: patient voice

this also positions canada’s health system as an outlier among those of several other countries, which offer broader treatment access to adult patients. people with sma are determined to forge ahead with their lives despite the disease , and the unequal treatment access between age groups and provinces is a source of deep frustration and distress. as bryce puts it, “ it’s like i’m not considered important enough to be taken care of.”  

part of the reason for the inequity in access across canada is that real-world evidence (rwe) is often disregarded when making decisions about public reimbursement for treating rare diseases. unlike data from randomized controlled trials, rwe is comprised of a large volume of observational data gathered over several years from global sma disease registries, help ing create a comprehensive picture of how treatment works in real-world settings.  

“this valuable rwe, while it’s being accepted elsewhere, hasn’t been considered in canada for adult patients like bryce,” says dr. lawrence korngut, neuromuscular neurologist at the university of calgary. “ to mandate that only clinical trial data is of value here is creating a scenario that i feel is inequitable because i don’t believe it’s feasible to even conduct a clinical trial with adult patients, which are a subgroup of an already-small rare disease patient population, and where the treatment is already approved by health canada and is available for them in other jurisdictions including quebec.”    

dr. lawrence korngut, neuromuscular neurologist at the university of calgary credit: supplied

rwe can be used to help inform access decisions based on broader populations versus the limited sample sizes inherent in clinical trials that study rare diseases. according to dr. korngut, it also provides rich scientific insight into the effectiveness of treatment for a range of adult patients and informs about its long-term safety .  

“we have multiple studies using rwe from around the world all lining up and demonstrating that firstly, adult patients with sma who don’t get treatment get worse over time, and secondly, that patients on treatment improve over time,” he says. “everyone agrees that treatment coverage decisions need to be rational and based on data. it’s equally important, however, that access is equitable to the patient community and that’s where the concern lies, from my end and for many of my colleagues as well.”  

there’s an urgent need for action for canadian adults with sma, as a majority lack access to treatment and are continuously losing mobility, strength, ability and independence. real-world evidence could be the key to expanding access to include these patients and prevent further disability and personal hardship.  

“it’s always on my mind. guitar is my life but picking it up today has become so bittersweet because i’ve already lost so much dexterity and i almost can’t even look at it now, knowing that it’s another thing that will be taken away,” says bryce. “every day when i’m doing something like climbing the stairs, my brain will say, ‘that was so much harder than before, how much time do i have before i’m not able to do this anymore?’”   

this story was created by content works , healthing.ca’s commercial content division, on behalf of a canadian healthcare company.    

share story

share this story

“it’s like i’m not considered important enough.” – why most adult canadians with spinal muscular atrophy (sma) feel left behind

email

facebook

x

linkedin

copy story link