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.”
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 result in positive health outcomes and long-term cost benefits for everyone. This is a tremendous accomplishment to start improving early detection and prevention.
We are so grateful for the partnership with Novartis Pharmaceuticals Canada, who helped us make this a reality across Canada. And a very special thank you to our dedicated community, generous donors and sponsors, Fire Fighter partners, clinicians, clients, and advocates for your unwavering support. We have helped make a life-changing impact on newborns and their families nationwide. We did it together—thank you!
For more information on this and other advocacy initiatives, please reach out through the research Hotline at 1-800-567-2873 ext. 114 or via email at research@muscle.ca.
Was your child diagnosed with SMA through newborn screening?
If so, we offer a specialized program called SMArTrack to help monitor, assess, and provide answers during the first two years of their life. For more information, or to get involved, please reach out to research@muscle.ca.
