The Montreal Children’s Hospital has reported a significant breakthrough: a nine-day-old baby named Samuel has become the youngest patient in North America to receive gene therapy for a rare, degenerative disease called spinal muscular atrophy (SMA). SMA affects nerve cells controlling muscles and impacts one in 10,000 individuals. Dr. Maryam Oskoui, head of pediatric neurology at the hospital, explained that SMA patients typically exhibit muscle weakness, impacting breathing and swallowing. Most SMA-affected infants, without appropriate treatment, don’t survive past their first birthday.
The administered gene therapy, Zolgensma, has halted Samuel’s disease progression. Samuel, now four months old, displays standard developmental milestones, whereas, without treatment, his health would’ve inevitably declined. This significant advancement comes with a tinge of sadness for Samuel’s mother, Audrey Bouchard. While her middle child, Jacob, doesn’t have SMA, her eldest, Ariane, suffered from it. Although Ariane also received Zolgensma, her treatment occurred later, at six months, causing irreversible damage. During her treatment, the drug was in its clinical trial phase, so she only received half the required dosage.
Bouchard reflects on Ariane’s condition, acknowledging that while the disease doesn’t impact cognitive functions, its physical toll is severe. Ariane, at nine, relies on tracheostomy ventilation and a feeding tube but maintains a vibrant spirit.
Due to Ariane’s early symptoms, the medical team was prepared when Samuel was born. As Bouchard recalls, they had advanced knowledge of Samuel’s condition and acted swiftly post his birth. Dr. Oskoui stressed the urgency of SMA diagnosis, as early intervention can significantly alter prognosis.
Samuel’s therapy, a one-time transfusion costing over $2 million, was funded by the Quebec government. Samuel’s journey will be monitored to ascertain the long-term impacts of the gene therapy.
Dr. Oskoui also highlighted the importance of early SMA detection. While several global regions have initiated newborn SMA screening, Quebec is set to introduce its program soon. Early diagnosis, she emphasized, can be life-changing for patients.
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