The positive, long-term impacts of scientific research on the lives of young SMA patients are becoming clear.
Even as an infant, Zoe Koontz of Victoria, B.C., showed remarkable drive and determination. “She was one of those high-spirited babies, always trying to communicate and engage,” says her mother, Vivienne Damatan.
But when Zoe reached 15 months, her parents observed an abrupt change in the way she moved. “She was falling quite a bit and refusing to go up stairs,” says Vivienne. “A few months later, we started looking into daycare for her, and the owner of one of the centres we visited noticed Zoe’s atypical gait and suggested we get it checked out.”
Vivienne and her husband, Tensley Koontz, brought Zoe to a local pediatric neurologist who referred them to BC Children’s Hospital for testing. Two days after Zoe’s second birthday in January 2018, they got the devastating diagnosis of type 3 spinal muscular atrophy (SMA). A rare and serious genetic neuromuscular disease, SMA affects motor nerve cells in a patient’s spinal cord, resulting in progressive muscle wasting and continuous declines in mobility, function and independence. The disease also causes patients to lose the strength necessary to achieve common developmental milestones and even impedes their ability to breathe and eat.
From grief and helplessness to hope and optimism
The diagnosis left Vivienne and Tensley with a feeling of deep grief about their daughter’s future and a sense of helplessness as they watched her decline. “We knew it was progressive, we knew it was rare, and we could see her abilities degrading.”
Fortunately, Zoe’s diagnosis came when key advances were occurring in SMA research that led to promising new therapeutic approaches. Filled with hope, Vivienne and Tensley worked with Zoe’s neurologist to incorporate the novel approaches into Zoe’s treatment plan within three months of her diagnosis. “The improvements were noticeable almost immediately; not only did the deterioration stop but Zoe got stronger. That wasn’t something we thought could be possible,” says Vivienne. She continued to strengthen and meet her motor and development milestones.
Today, at age nine, Zoe excels in school and leads a full and active life. Although she occasionally needs support for mobility, her passions include diverse extracurricular activities like dance, horseback riding, and swimming. “Zoe is excited and driven to find her own way to participate in lots of activities, which is huge for her mental and physical health. She also has amazing friends,” says Vivienne.
A positive outlook for SMA patients
Not long ago, the outlook for young SMA patients was very different. “We were looking at progressive disability and, in the more severe cases, shorter life expectancy,” says Dr. Megan Crone, a pediatric neurologist and neuromuscular specialist at Alberta Children’s Hospital in Calgary, Alta. “With available therapies, coupled with newborn screening now being done across Canada, we can diagnose SMA early and start treating it as soon as possible so they can maintain the function and skills they have.”
According to Dr. Crone, the SMA patients she treats today have gained stamina, which can have a positive influence on their development. “Increased energy levels are common, which probably makes patients inclined to want to do more things, which in turn helps them regain muscle strength,” she says.
Seeing Zoe continue to meet her milestones and become more independent has eased much of the physical and mental stress on her family. “Zoe’s therapy has allowed her to choose what she wants to do, set goals, and explore her interests,” she says. “As a mom, the SMA is always on my mind, but the positive results from therapy have allowed me space to become a whole person again.”
The “now time” for the SMA community
Milestones and achievements that would have been considered unimaginable for SMA patients a decade ago are becoming a concrete reality today, and Zoe is a living testament to the positive impact of scientific research. Vivienne believes Zoe’s diagnosis happened at a very significant moment. “We were very lucky to become part of the SMA community when we did,” she says. “There’s what I call the ‘before time,’ when SMA kids had a progressive disease for which there was no treatment; we feel so lucky to live in the ‘now time,’ which means that while there are still challenges, there is also more hope, options, and more possibilities than ever before for them to live a full and beautiful life.”
To learn more, visit smashingbarriers.ca.
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