Teenager Defies Spinal Muscular Atrophy Diagnosis, Leads Active Life Thanks to Medical Advances

When Mason Stewart was diagnosed with a rare neuromuscular disease as a toddler, his world seemed to shrink. Now a teenager, his future looks much brighter than anyone could have imagined.

When he’s not at school, 16-year-traditional Mason Stewart doesn’t spend a lot of time sitting around doing nothing. He works on the family farm near Perth, Ontario, has a weekend job at a local grocery store, and enjoys hunting and fishing in his free time. “I like to be outside as much as possible,” he says.

But Mason’s ability to lead such an active life wasn’t always a given. At just two years old, he was diagnosed with spinal muscular atrophy (SMA), a rare and serious genetic disease that causes progressive muscle loss, as well as decreased strength, mobility, and independence. National Post

In its most severe forms, SMA affects a person’s ability to eat and breathe, and can reduce life expectancy, sometimes from early childhood. At the time of Mason’s diagnosis in 2011, the future seemed bleak. “We were told there was no cure and to just go home and love him,” recalls his mother, Jenna. Today, the situation is very different thanks to advances in SMA research made in the years following diagnosis. “If someone had told me at the time that Mason would be walking at 16, I honestly would have never believed it was possible,” says Jenna.

A Degenerative Disease

“SMA results from an abnormality affecting each of the two copies of a very important gene called survival motor neuron 1 (SMN1) gene,” explains Dr. Hugh McMillan, pediatric neurologist and neuromuscular disease specialist at the Children’s Hospital of Eastern Ontario (CHEO) in Ottawa. National Post This anomaly prevents the production of the SMN1 protein, essential for the survival of motor neurons in the spinal cord.

“In the natural course of the disease, without the SMN1 protein, motor neurons degenerate. The nerves that go to different parts of the body then die, and the muscles they control gradually atrophy,” says Dr. McMillan.

In Mason’s case, subtle signs of muscle atrophy appeared very early in his life. Although he met most normal developmental milestones, he didn’t walk until he was over a year and a half old. When he started walking, Jenna noticed that his gait was unusual and that he often had difficulty standing. The Stewart family visited several doctors to figure out what was happening, anxiously awaiting test results.

When the medical team confirmed that Mason had type 3 SMA, his worst fears were confirmed. The hopes and dreams they had for Mason’s future were suddenly called into question, as the young boy would face muscle weakness and a permanent disability. “I came home and started doing multiple research on SMA. There was a lot of negative information on social media,” Jenna recalls. “At the time, there was nothing we could do for children with this disease. We were told that Mason would probably be in a wheelchair permanently by the age of eight.”

As Mason grew up, he felt the effects of the disease more and more, and he became aware of its impact on him from the age of nine. “I started to realize I was getting weaker,” he says. “My father had to carry me up the stairs or into the woods when we went hunting. I really started to sense that it was holding me back and that I was “different”. ”

The Turning Point That Changed Mason’s Life

Over the years, the Stewart family has closely followed research into SMA and learned about promising recent scientific advances, which have led to the arrival of new therapeutic approaches. Even though there was new hope for SMA patients like Mason, the Stewarts couldn’t help but be skeptical: How would their son respond to the treatment? They would identify out, a few months before his eleventh birthday, in 2020, when Mason began his treatment.

Mason still vividly remembers a pivotal moment that came soon after, when he suddenly realized he was capable of doing things he couldn’t do before. “I remember crossing a curb one day and realizing that I could do it without my father’s help, as usual,” he says. He then gained strength and endurance, and daily tasks became less difficult. “I can climb a few steps, fish more easily and shoot a rifle without leaning on a support,” he explains. Jenna struggles to find the words to explain how she felt when she saw this development. “I remember being in disbelief at our son’s progress,” she says. “It changed our lives. He now leads a normal life, without feeling excluded or different from others.”

X-rays later revealed that Mason’s spinal scoliosis, a common symptom of SMA caused by muscle weakness, had also improved. News that deeply delighted Jenna. “I had them enlarged to produce a poster,” she says.

If Mason hadn’t had this procedure at this point in his life, “there’s a good chance he wouldn’t be able to walk today or do the activities he enjoys,” Dr. McMillan said. “The medical landscape is evolving very rapidly at the moment: much research is underway to improve care related to SMA and other neuromuscular diseases. It’s a hopeful time.” He adds that stopping the progression of muscle loss requires continuous monitoring, and Mason and his parents have no intention of changing anything in the way they do things. “It’s like a miracle,” Jenna concludes. “Why change an approach that works?”