100 percent of Canada is now screening infants for spinal muscular atrophy, a potentially fatal disorder

Muscular Dystrophy Canada and partners deliver on goal outlined in Canada’s Rare Disease Strategy

Toronto, Ontario, Canada, August 20, 2024 – Muscular Dystrophy Canada is thrilled to announce that after three years of working with each Canadian province and territory, all babies born in Canada can now be tested for spinal muscular atrophy (SMA). This milestone means infants diagnosed with SMA, the most fatal genetic disorder in children under two years of age, can receive life-changing treatment before symptoms even develop. It also marks the first neuromuscular condition to be added to screening panels across the country.

“Early diagnosis and effective treatment are critical to achieving the best possible outcomes for babies born with this neuromuscular condition,” said Dr. Pranesh Chakraborty Chief of the Department of Pediatrics at Children’s Hospital of Eastern Ontario and Chair of the Department of Pediatrics at uOttawa’s Faculty of Medicine. “Historically, most infants and children with SMA would have been diagnosed only after they have developed weakness and respiratory difficulty, at a time when most of their motor neurons have been irretrievably lost. Now, instead of facing life-limiting disability and, in the most severe cases, a life expectancy of less than two years, babies affected by SMA every year in Canada shall be diagnosed within the first weeks of life allowing them to rapidly receive therapy and improved outcomes.”

In 2020, only Ontario and the Baffin region in Nunavut screened for SMA at birth. Today, regardless of where in Canada a child is born, they will receive the same screening; and, if SMA is diagnosed, the same healthcare, treatment and opportunity to thrive.

“I could not imagine what our life would look like if my daughter were not given genetic, SMA-testing at birth,” said Taylor Diakew, mother of a 2-year-old with SMA. “Today, thanks to her early diagnosis, and quick access to treatment, she is a happy, healthy little girl who does not exhibit any signs of SMA – she is walking, running, climbing, and talking like any child her age. Thanks to SMA newborn screening, she can live the best life possible.”

The addition of SMA to newborn screening panels in all provinces and territories breaks down barriers and inequities families face simply because of where they live. It also acknowledges that screening for rare genetic diseases and access to early care results in positive health outcomes and long-term cost benefits for everyone.

“It is a tremendous accomplishment to start improving early detection and prevention, one of the goals outlined in Canada’s Rare Disease Strategy. However, this success was only possible because of the willingness of provincial and territorial governments to work alongside Muscular Dystrophy Canada to add SMA to newborn screening. This is a significant step forward, and we hope it leads to the inclusion of other neuromuscular conditions on screening panels,” said Stacey Lintern, CEO, Muscular Dystrophy Canada. “We are grateful for the partnership with Novartis Pharmaceuticals Canada who helped us make this a reality across Canada and for every clinician, researcher, provincial laboratory lead, volunteer, donor, Canadian Fire Fighter, like minded organization, and government member who supported this project.”

“This initiative holds immense value for the entire Canadian neuromuscular and rare disease community, laying the groundwork for future transformative and life-changing initiatives,” said Dr. Homira Osman, VP of Research and Public Policy, Muscular Dystrophy Canada. “There are many progressive neuromuscular disorders where time is of the essence: early diagnosis and prompt access to treatments are critical drivers to achieving the best possible outcomes. Muscular Dystrophy Canada will now leverage the knowledge and findings gained from this initiative to ensure other neuromuscular disorders are included in newborn screening programs nationwide.”

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