May 21, 2021
Community funded research paves way to SMA newborn screening across Alberta
What began as a research study inspired by families who know all too well the effects of spinal muscular atrophy (SMA) has become a tremendous partnership that will enable newborns in Alberta to be tested and treated before the onset of symptoms, when time is of the essence.
Generous donations to the Love for Lewiston Foundation and the Alberta Children’s Hospital Foundation funded the launch of a SMA newborn screening study in 2019, led by Dr. Jean Mah, a pediatric neurologist at the Alberta Children’s Hospital who specializes in treating children with SMA. Working in collaboration with researchers at the University of Calgary and the University of Alberta, this critical work laid the foundation for the introduction of a pilot for SMA newborn screening across the province, announced in July.
“We are tremendously grateful to our generous community who contributed more than $500,000 towards Dr. Mah’s research and getting this project off the ground. This expanded partnership is going to bring new hope to families and ultimately save lives,” says Saifa Koonar, President and CEO of the Alberta Children’s Hospital Foundation.
SMA is a rare genetic condition that weakens muscles by affecting motor nerve cells in the spinal cord. Children with SMA will generally require a wheelchair. Over time, feeding and breathing can also become compromised and ongoing interventions are needed to sustain their lives. It is the most common genetic cause of infant mortality. Fortunately, an approved drug can help prevent and potentially reverse the impact of this devastating genetic disease if given before symptoms appear.
Jessica Olstad knows the pain of SMA and the importance of early detection. Her little boy, Lewiston, was diagnosed in 2016 when he was just a few months old.
“Every breath becomes a challenge, every breath you wonder, ‘is this it, or will I get another?’” says Jessica. The disease progressed quickly in her son. Surrounded by friends and family, Jessica and Ronnie held Lewiston as their baby took his last breath in November of that year.
After his passing, the Olstads poured their energy into honouring his legacy and helping other families avoid their pain by supporting Dr. Mah’s foundational newborn SMA screening study. That research, supported by the Love for Lewiston Foundation and the Alberta Children’s Hospital Foundation, was instrumental in paving the way for SMA screening for babies across Alberta.
Muscular Dystrophy Canada will provide funding to Alberta Precision Laboratories to implement the test through a one-year pilot program starting in early 2022. The test will then become part of Alberta’s publicly funded Newborn Metabolic Screening Program — which currently screens for 21 conditions — after the one-year pilot program is completed.
“Our family has been actively advocating for newborn screening of spinal muscular atrophy and we are absolutely thrilled to be another step closer to offering this critically important medical test,” says Jessica.
The SMA screening announcement was applauded by Dr. Mah, who says the ultimate goal has always been to save families the pain of losing a child, and for those who survive, to reduce their need for wheelchairs, feeding tubes and ventilators.
“Early treatment holds the promise to completely prevent or limit the disability experienced by children with SMA. That would be much more hopeful news to share with a family,” says Mah.
“We are driven by families like the Olstads, and it’s wonderful to know that we have the support of the community behind us as we pursue these important research projects. This is how we move medicine forward and make life better for kids and their families.”