DONATIONS AT WORK HIGHLIGHTS 2025/26
Early detection and life-changing treatment for kids with Spinal Muscular Atrophy
Anna’s story
Robert and Caley were overjoyed to welcome their daughter, Anna, into the world.
Just days after getting their baby girl home, they received a call from their family doctor and learned that Anna’s newborn screening test had flagged a genetic marker. Within minutes, they were contacted by a doctor from the Alberta Children’s Hospital who explained that Anna had tested positive for Spinal Muscular Atrophy, commonly known as SMA.
SMA is a rare genetic disease that causes progressive muscle weakness and can affect feeding and breathing. It is the leading genetic cause of infant death, but early treatment — before symptoms appear — can dramatically improve outcomes.
Generous support from the community made it possible to launch an SMA newborn screening study in 2019, led by Dr. Jean Mah, a pediatric neurologist at Alberta Children’s Hospital. The findings from this important research paved the way for the inclusion of SMA markers in Alberta’s newborn screening panel in 2022.
Dr. Mah, who also specializes in treating children with SMA, was attending a conference when Anna’s test results came back, but she flew back that day to meet with Robert and Caley and discuss the diagnosis and treatment options.
Caley and Robert with their daughters Anna and Wren.
“It was an incredibly scary and overwhelming time for our family, but after meeting with Dr. Mah, we felt hope and reassurance,” Robert says.
Thanks to her quick diagnosis, Anna underwent gene therapy, which works by introducing a functioning copy of the Survival Motor Neuron (SMN) gene, and started regular medication as part of her SMA treatment. Today, she is a smiley, cuddly and social baby and her parents are treasuring each moment with her.
When your child is diagnosed with a rare disease, it can feel incredibly isolating. I am so thankful to the people who recognized the importance of this work and chose to advocate for it. We are especially grateful to Dr. Mah, who has dedicated so much time to advancing care for SMA, which gives families like ours hope.
— Robert, Anna’s dad
Life-changing interventions
Over the past year, three babies were diagnosed with SMA through Alberta’s newborn screening program, bringing the total number since the program’s start to 17. Because of early detection, each baby was able to access treatment right away, giving them the best chance at a healthier future.
For families affected by SMA, timing matters. Early treatment can completely prevent the onset of symptoms or slow disease progression, helping children reach milestones that may not have been possible just a few years ago.
This has been life-saving and life-changing for kids.
I have seen firsthand how early diagnosis can change the course of a child’s life. Screening babies before symptoms appear gives families access to treatment at the earliest possible moment, when it can have the greatest impact on health and development. I am so grateful to the community who helped make early screening a reality for families across our province.
— Dr. Jean Mah, pediatric neurologist
Today, the impact of community support continues to grow.
Dr. Mah began a new research study designed to evaluate the long-term impact of newborn screening on health outcomes for children diagnosed with SMA across Canada. The study will help specialists better understand how early diagnosis and treatment are changing the course of the disease and will inform future improvements to care.
Dr. Mah is also leading advocacy efforts to add testing for gene SMN2 to Alberta’s newborn screening program. An important first milestone has already been achieved, as she has secured approval from the Alberta Newborn Screening Advisory Committee.
Adding SMN2 to the panel would offer a better look at a child’s full genetic profile, further reducing the time to treatment. As well, it would eliminate the need to call and unnecessarily alarm families of children who have had a positive screen but do not require treatment.
Dr. Mah and her team are also contributing to national collaborative research efforts focused on improving outcomes for individuals living with SMA. These partnerships ensure Alberta remains at the forefront of SMA research and families benefit from the latest scientific advances.
Thanks to your generous support, every baby identified through newborn screening represents a family given answers sooner and a chance to move forward with hope.
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