a new era of hope for patients with spinal muscular atrophy
medical advances are rewriting the course of this serious rare disease
4 minute read
justin dionne was diagnosed with sma at age four, just as new research advancements into the disease were being made. supplied
this story is sponsored by
biogen
this story was created by content works, postmedia’s commercial content division, on behalf of a client.
like countless canadian kids, 11-year-old justin dionne of quispamsis, n.b., loves playing hockey. “it’s my favourite sport—it’s very fun,” he says. in fact, it’s hard to name a sport or activity justin doesn’t enjoy. at summer camp, he’s gone rock climbing and kayaking, and he swims, likes to ski, rides his-e-bike, plays tackle football, and competitive baseball. while this activity roster would be remarkable for any pre-teen, in justin’s case, it’s all the more so. at age 4-1/2, justin, who was already playing hockey and riding a bike, began losing these abilities, and started falling for seemingly no reason. months later, in early 2018, he was diagnosed with spinal muscular atrophy (sma). this inherited disease, when unchecked, damages and kills the nerves that drive voluntary muscle movement, which in turn causes the muscles themselves to wither.
but justin and other youngsters like him belong to a new generation of sma patients who are forging ahead towards much brighter futures. this comes thanks to a series of ground-breaking medical advancements which he was able to access within weeks after his diagnosis.
sma is a rare disease, affecting an estimated one in 10,000 babies born each year. “we didn’t know what sma was,” recalls justin’s dad, janik, of his son’s diagnosis. as the dionnes learned more about the disease their initial shock turned to dread.
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not long ago, for the most severe form of sma, type 1, “we used to say life expectancy was 12 to 24 months,” says dr. tamer rizk, a consultant pediatric neurologist at saint john regional hospital/horizon health network in saint john, n.b. “those patients would end up needing to be connected to a ventilator.”
children with type 2 often lived into adolescence or early adulthood; however, they would be unable to stand or walk unassisted, and commonly struggled with chronic breathing difficulties.
while kids with type 3, like justin, would be expected to live a relatively normal lifespan, most would have difficulty walking independently, much less climbing stairs, running, or skating. regardless of sma type, the trajectory of the progression of the disease would only go one way, with no hope for improvement.
“he can strike the ball like nobody else on the team, and he’s one of our best pitchers,” says justin’s father, janik, on his son’s ability to play baseball. supplied
for justin, however, his diagnosis with sma occurred just as new research advancements into the disease were being made, which his family worked to learn more about and access for their son. during that first year, “justin wasn’t falling anymore. he started getting a bit stronger, and had more energy and stamina,” janik says.
since then, justin has continued to participate in, and excel at, several sports. in baseball tryouts, “he was selected in the top 24 players out of 82 kids,” says janik. “he can strike the ball like nobody else on the team, and he’s one of our best pitchers.” in regular hockey, “he’s a great shooter.” justin also plays wheelchair basketball, and his skill at sledge hockey is outstanding. “he practices with some of the players from team canada,” janik says.
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running and skating, however, are harder. to understand how sma affects justin, his classmates once took turns trying to run while wearing heavy firefighter’s boots. “justin said, ‘that’s how i feel every time i run,’” janik explains. his resilience and determination has made him a role model among his peer group. “it’s important to focus on what you can do, not what you can’t do,” says janik. (the teams and baseball associations justin plays with have made accommodations for him—for instance, if his legs are too tired to run bases after a hit, his coach can substitute a pinch-runner.)
the contrast between historical outlooks for kids with more severe forms of sma, and those for present-day patients who begin treatment soon after diagnosis is even more stark. for instance, children with type 1 were once never expected to be able to sit up, but a new generation of patients with this form of sma are achieving milestones like walking with the use of an assistive device.
previously, “these kids, who are bright, would want to do things, but their muscles and nerves were not allowing them to,” dr. rizk says. today, patients who are able to access medical advances in the early stages of the disease, “are not just living—they’re able to do things that we would never have dreamed of before,” says dr. rizk.
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for the dionnes, these developments strike a deep chord. it wasn’t until justin was diagnosed that his parents learned they were both carriers of a faulty copy of the gene that causes sma. if their older daughter had inherited two faulty copies like justin, she too would have been born with sma. had this occurred and she was diagnosed at the same age as her brother, the advancements available to young sma patients today would not yet have been available and doctors would have had nothing to offer beyond supportive care.
the new approaches available for sma treatment continue to rewrite the course of disease. justin’s dream is to be a professional baseball player or hockey player, and he has reason to have big ambitions as his confidence and skill grows. “my parents told me that in sledge hockey, they think i can go far,” he says. and they’re not alone. at justin’s recent middle school graduation, “the principal said, make sure you give me vip tickets when you make it onto the canadian olympic sledge hockey team,” janik says, turning to his son. “so he made a promise to her. right?” justin nods. “right.”
this story was created by content works, healthing’s commercial content division, on behalf of biogen canada.
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