Camila had a straightforward pregnancy and baby Gabriela arrived seemingly the picture of perfect health. Camila, her husband, Arthur, and their son, Jacob, were soaking in life as a family of four when they received a call that would change their lives – concerns with Gabriela’s newborn screening. Within an hour, Camila and Arthur found themselves in the neurology department at the Alberta Children’s Hospital surrounded by doctors, social workers and physiotherapists. Gabriela’s screening had flagged a marker for a degenerative disease called Spinal Muscular Atrophy (SMA) and further testing was needed.
SMA robs children of their movement, and depending on the type and severity, can be fatal. However, thanks to community support and advocacy, SMA is being caught early. Building off the success of a donor-funded pilot program, SMA was added to Alberta’s newborn screening panel in 2022, meaning signs of the disease can be flagged with a simple heel poke and blood sample, providing the opportunity for early intervention.
“I Googled SMA and saw some kids with it die by age two,” says Camila. “In my head, all I could think was, ‘She’s going to die.’” The family quickly met a wonderful team of specialists at the hospital, including pediatric neurologist, Dr. Jean Mah. “She explained there is a treatment that can stop the disease from progressing and she was very keen to get going right away,” says Camila. “With SMA, every day counts. Once symptoms appear, it means you have already lost motor neurons and once they’re gone, they’re gone.”
After more tests and a physio assessment, Camila and Arthur received confirmation Gabriela had SMA and that her particular presentation of the disease made her eligible for gene therapy treatment. This is a one-time IV infusion that gave Gabriela’s motor neurons the code they need to produce a critical protein, explains Camila. Without that protein, the motor neurons die, causing muscles to waste away.
Today, Gabriela is a healthy, happy two-year-old who has met or exceeded all her milestones. “If this had happened to us 10 years ago, even five years ago, if she had survived, she probably would have been in a wheelchair and life would be very different,” says Camila. “Thanks to the early detection and treatment, you would never know she had SMA.” Camila is overwhelmed with gratitude when she thinks about those who worked so hard to make SMA screening possible in Alberta. “Thank you. Not only did you help save our daughter’s life, you saved her quality of life and it is such a blessing to us.”
