Thanks to new approaches, care outcomes for people with SMA are better than they’ve ever been
Top: Samuel Cormier; bottom left: Michel Cormier; bottom right, Samuel (on the right) and his brother Guillaume sharing their love of hockey when younger. supplied
One young man’s journey with spinal muscular atrophy: After years of uncertainty, diagnosis leads to solutions supporting greater mobility and independence
Four years ago, when he was 16, Samuel Cormier was diagnosed with a rare neurological disease called spinal muscular atrophy (SMA). It was difficult news to hear, but Samuel, now 20, sees that day as a notable turning point.
“I’ll remember the moment when I got the diagnosis for the rest of my life. Finally, I knew what I had.”
Samuel’s father, Michel Cormier, was also relieved to learn that his son’s growing muscle weakness and declining mobility had a name, and now, the family could see a path forward.
“I was shocked and sad at first, but I knew I had to be strong and learn what we could do to make life better for Samuel,” he says. “Nothing else mattered besides getting him the tools and treatment to help him succeed in life.”
The Cormiers, who live in Trois-Rivières, Quebec, had been looking for answers for several years. When Samuel was a young child, Michel noticed his son had some mild mobility problems, but nothing to raise alarm. By the time Samuel was around 14, however, his lack of strength was more pronounced and becoming debilitating. “After a while it was affecting everything,” says Samuel. “It was hard to get dressed and go up the stairs, I would suddenly trip, and I had to quit playing hockey, which I loved.”
Visits to doctors didn’t offer much reassurance, says Michel. “The assessment was that he was growing too quickly, and that his tendons were pulling on his muscles, making them weaker. I thought there must be more to the story, and we saw a neurologist.”
The delay in diagnosing Samuel’s disease is not unusual for someone like him who has SMA Type III, also known as juvenile SMA.
“My message to others who have SMA is find something you love and chase it. Don’t stop yourself from trying anything. Yes, it can be hard sometimes, but I’m looking forward to a bright and healthy future.
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SMA is a rare genetic neuromuscular disease that affects the part of the nervous system that controls voluntary muscle movement. A mistake in genetic coding means a loss of motor neurons, important cells in the spinal cord, which leads to progressive muscle weakness and atrophy (muscle wasting).
There are four main types of SMA, from Type I to IV, differentiated by severity, age of onset and achieving key motor-function milestones. Type I, which is seen in infants, is the most severe form of the disease. In Type III, the diagnosis can occur up to 18 years of age.
In recent years, there have been significant advances in SMA, leading to new options for disease stabilization and improved motor function. Samuel’s diagnosis was the beginning of the journey that has brought him to his life today – one of greater mobility and growing independence.
“It’s great that Samuel and I can discuss his challenges and successes. For other people, I want to help them understand how to detect the signs of potential SMA, so they can get a diagnosis as early as possible and help their child maintain a greater quality of life.
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It has been rewarding to set goals and overcome obstacles, Samuel says. “I was in a wheelchair for a while and now I’m walking, so that’s a great achievement. I started to ride my bike a bit, and I skated last year for the first time in years.”
Both Samuel and Michel have a positive outlook and are inspired to talk openly about SMA – to support each other, as well as to raise awareness about the disease to help other families who may be affected.
“It’s great that Samuel and I can discuss his challenges and successes,” explains Michel. “For other people, I want to help them understand how to detect the signs of potential SMA, so they can get a diagnosis as early as possible and help their child maintain a greater quality of life.”
Samuel says he is also boosted by his supportive circle of friends and by focusing on what he can do, rather than any limitations. He loves drawing and art and is considering becoming a tattoo artist.
“My message to others who have SMA is find something you love and chase it,” he says. “Don’t stop yourself from trying anything. Yes, it can be hard sometimes, but I’m looking forward to a bright and healthy future.”
For more information, visit the SMA Beyond Childhood page on care.togetherinsma.ca.
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