Spinal Muscle Atrophy – Muscular Dystrophy Canada

Help families, like Danielle’s, get the answers and support they so desperately need.

Danielle has defied all odds throughout her life. As a world-record holding Paralympian, Danielle challenged herself to win a medal, and not only did she win one, but over the course of two Olympic games, she won seven. Danielle is a published book author and engages many as a motivational speaker at events nationwide. She’s a proud mom of five and has earned an honourary doctorate. Danielle also has spinal muscular atrophy (SMA).

When she was two years old, Danielle was diagnosed and her lifelong connection to Muscular Dystrophy Canada began.

Because of our donors, Muscular Dystrophy Canada has been able to stand shoulder to shoulder with Danielle and her family throughout every stage of her neuromuscular journey, from supporting them as they navigated through some difficult questions, helping to provide vital equipment and working together to ensure the systems around Danielle were set up to ensure her success.

Please make a gift today and help families, like Danielle’s, get the answers and support they so desperately need.

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“Not only did Muscular Dystrophy Canada provide emotional support to my family, but throughout my childhood they also provided support with equipment, advocacy, and navigating life with a neuromuscular disorder,” Danielle says. “Growing up, I had many questions: Would I be able to have kids? Would I pass this disorder on to my children? What would my prognosis look like? No matter what question or fear I had, I was always able to turn to Muscular Dystrophy Canada.”

Today, Danielle is thriving. But life isn’t always easy. Because receiving a neuromuscular diagnosis can be complex, Danielle received a new diagnosis recently. The good news is that this was possible because of our donors. Your investments ensured research continued to accelerate and change lives.

“Thanks to Muscular Dystrophy Canada’s donors, I have been able to finally get my official diagnosis of spinal muscular atrophy – lower extremities dominant (SMA-LED), after 10 years of genetic testing” Danielle says. “Thanks to this investment, I was also able to learn that my condition is genetic and there was a 50/50 chance it would be passed onto my children.”

Originally told she wouldn’t pass on her disorder, Danielle’s middle son, Samson was recently diagnosed with spinal muscular atrophy, just like his mom.

The path ahead for Danielle and Samson isn’t a straight line but is made easier because of Muscular Dystrophy Canada’s support, programs and services.

Our team is at the end of each phone call. We will answer every email, and we will help ensure Danielle, her family and everyone living with a neuromuscular disorder has every opportunity to meet their own goals, whatever they may be.

Donate today!

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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ABOUT MUSCULAR DYSTROPHY CANADA

Muscular Dystrophy Canada’s mission is to enhance the lives of those affected with neuromuscular disorders by continually working to provide ongoing support and resources while relentlessly searching for a cure through well-funded research. To learn more about Muscular Dystrophy Canada, please explore our website or call our toll-free number at 1-800-567-2873.

FOR MORE INFORMATION CONTACT:

Homira Osman
Vice-President Research & Public Policy
Muscular Dystrophy Canada
Homira.Osman@muscle.ca
437-912-9037

B.C. newborn screening expands; early detection improves quality of life

Muscular Dystrophy Canada is overjoyed that babies born in British Columbia will now be screened for spinal muscular atrophy (SMA). Congratulations to the Government of B.C. on taking this important step that will lead to early diagnosis and treatments that will have life-changing results for individuals and families. Access to the earliest diagnosis will ensure that patients have access to the right treatment and healthcare at the right time, resulting in the best health outcomes for patients.

Alberta Fourth Province to Expand Access to Spinraza™ for Patients Impacted with Spinal Muscular Atrophy

Alberta fourth province to expand access to SPINRAZA™ for patients impacted with Spinal Muscular Atrophy.

Muscular Dystrophy Canada (MDC) commends the Government of Alberta for joining Quebec, Saskatchewan, and Ontario in expanding access to SPINRAZA™, a life-changing treatment for individuals impacted with Spinal Muscular Atrophy (SMA).

In Alberta, the following patients will now be eligible for reimbursement of SPINRAZA™, in addition to Type 1 patients:

patients who are pre-symptomatic with two or three copies of SMN2, or
have had disease duration of less than six months, two copies of SMN2, and symptom onset the first week after birth and on or before seven months of age, or
are under the age of 18 with symptom onset after six months of age, regardless of the ability to walk.
Other patients who do not meet the expanded funding criteria may be considered in exceptional cases.

More Patients Impacted with Spinal Muscular Atrophy in Ontario to Gain Access to Spinraza™

Toronto, Ontario – Muscular Dystrophy Canada (MDC) applauds the Government of Ontario for expanding access to SPINRAZA™, a life-changing treatment for individuals impacted with Spinal Muscular Atrophy (SMA). In Ontario, expanded coverage of SPINRAZA™ will include the following, in addition to existing coverage for Type 1 patients:

patients who are pre-symptomatic with two or three copies of the SMN2 gene;
patients with a disease duration of less than six months, two copies of the SMN2 gene, and symptom onset the first week after birth and on or before seven months of age;
patients under the age of 18, with symptom onset after six months of age and who have never achieved the ability to walk independently.

Patients Living with Spinal Muscular Atrophy (SMA) in the Province of Saskatchewan Gain Access to Spinraza™

April 22, 2019

Dear members of the SMA community,

In response to the requests received by patients living with Spinal Muscular Atrophy (SMA), Biogen Canada would like to provide this latest progress regarding coverage of SPINRAZA™ (nusinersen) in the province of Saskatchewan.

Biogen Canada is delighted to inform you that on April 12, 2019, the Government of Saskatchewan informed treating physicians in their province that patients living with Spinal Muscular Atrophy (SMA) have access to SPINRAZA™. The Saskatchewan Ministry of Health has made the decision to expand coverage of SPINRAZA™ to include the following, in addition to existing Type I patients:

Patients who are pre-symptomatic with two or three copies of the SMN2 gene;
Patients up to age 18, with symptom onset after six months of age and who have never achieved the ability to walk independently;
Patients that may have achieved the ability to walk independently (type III) as well as type II and type III patients over the age of 18 are encouraged to talk to their treating physician to apply for a case by case coverage.