Camila’s pregnancy journey was smooth, and she gave birth to a healthy baby girl named Gabriela. Along with her husband, Arthur, and their son, Jacob, they were joyously adapting to their new life as a family of four. However, a phone call about Gabriela’s newborn screening results changed everything. The family found themselves in the neurology department of the Alberta Children’s Hospital, surrounded by a team of medical professionals. The screening had identified a potential risk for Spinal Muscular Atrophy (SMA), a degenerative disease that required further investigation.

SMA is a disease that limits children’s mobility and, if severe, can be life-threatening. However, due to community support and advocacy, early detection of SMA has become possible. In fact, in 2022, SMA was added to Alberta’s newborn screening panel, enabling early detection through a simple heel prick and blood sample, opening doors for timely interventions.

Camila recalls her fear upon learning about SMA, “I Googled SMA and saw some kids with it die by age two. In my head, all I could think was, ‘She’s going to die.'” However, the hospital’s expert team, including pediatric neurologist, Dr. Jean Mah, gave them hope. Dr. Mah explained a treatment could halt the disease’s progression and emphasized the importance of immediate action.

Following further tests and a physio assessment, Gabriela was confirmed with SMA, but her specific condition made her eligible for gene therapy treatment. This one-time IV infusion provided Gabriela’s motor neurons with the necessary code to produce a critical protein, which, if missing, leads to the death of motor neurons and muscle deterioration.

Today, Gabriela is a thriving two-year-old who has successfully achieved 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. She expresses immense gratitude for the early detection and treatment of SMA, and for those who advocated for SMA screening 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.”