How Patients Living With Spinal Muscular Atrophy Can Achieve More Through Active Living

As a child, Mitchell Choma rarely sat still. Passionate about sports, he especially loved playing football and hockey in his hometown of Burlington, Ont. Then, when he was 15 years old, his future became uncertain when he was diagnosed with a rare disease and faced the prospect of losing his ability to walk—let alone play sports. Now 23, Mitchell has a renewed sense of optimism due to his determination and recent care advancements.

The disease Mitchell was diagnosed with, back in April 2017, was spinal muscular atrophy (SMA)—a rare, genetic neuromuscular disease that can affect individuals of any age. In its most severe forms, it can lead to the inability to achieve key developmental milestones, or to early death. In its less severe forms, patients experience progressive loss of muscle and motor function, as well as deteriorating quality of life.

At the time of Mitchell’s diagnosis, there was no treatment available, and he was confronted with questions about an uncertain future. “I was in a dark spot in my life, trying to figure out, ‘What do I do now?’” he says. “The things I loved doing for my whole life were stripped away.”

Before the diagnosis, no one in Mitchell’s family had even heard of SMA and they didn’t know where to turn. “The diagnosis was devastating,” says Mitchell’s dad, Peter. “We felt that ache as parents. That was a day none of us forgets.”

Reason for hope

In 2018, about a year after Mitchell’s diagnosis, there was a glimmer of hope when his family became aware of new developments in SMA research and care. Feeling cautiously optimistic, Mitchell and his family worked with a neurologist to explore the new care options that were available.

The impact on Mitchell’s life was profound. As his confidence in his abilities grew, he felt inspired to become more physically active again—and today, he exercises every day.

“When I see physical improvements, that brings me joy because that’s something I didn’t think would be possible when I was diagnosed.”

“My activity level went up exponentially. It’s driven me to do bigger and better things than I thought possible,” he said. “When I see physical improvements, that brings me joy because that’s something I didn’t think would be possible when I was diagnosed.”

Positive effects of physical activity

Melissa Dermody, a physiotherapist in the adult SMA clinic at Sunnybrook Health Sciences Centre, says that physical activity is vital for people with SMA to maintain their strength.

“There is increased importance for people with SMA to be active in order to prevent disuse muscle atrophy, which occurs in addition to the atrophy associated with the disease,” she says. “For people on a disease-modifying therapy, you have an enhanced opportunity to maximize the benefits of treatment through physical activity,” Dermody continues, adding that she is seeing this in her patients.

“Patients are reporting functional gains while on disease-modifying therapy that are not always captured on the physical function tests, but are relevant and important for quality of life,” she says. “People are reporting the capability to go to more social events outside the home and participate longer in work or education. It is very exciting to see.”

Sharing his story to help others

Today, Mitchell looks to a bright future, graduating from Brock University with a degree in sports management and recently starting his first job. Peter remembers when the outlook was much less optimistic for his son. “Things looked very different for us when he was diagnosed,” he says. “We were counting the days until he would have to use a wheelchair. Today the goal is to push that out as far as he possibly can.”

Mitchell’s journey inspired him to become an advocate, fundraising and spreading awareness about SMA. His Instagram account, SMA Warrior Fitness, is a platform where Mitchell shares his message about the importance of self-care and active living to others in the community.

“If sharing my story helps even one person, that is something I can hold dear to my heart because the SMA community has done so much for me,” Mitchell says. “I am so grateful for where I am now, and I want to help others as much as I can.”

If you or your child are experiencing any suspected signs or symptoms of SMA or would like to know more about SMA and its available treatment options, please consult a healthcare professional.

This article was sponsored by Biogen Canada.