Children With SMA Are Achieving More Than Ever Thanks to Medical Advancements

The positive, long-term impacts of scientific research on the lives of young SMA patients are becoming clear.

- Anne Papmehl

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.