A four-month-old baby who was at risk of developing spinal muscular atrophy has received a life-changing drug worth $2.4 million.
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Little Samuel’s sister, 9 years old, suffers from this progressive degenerative disease with devastating effects on the ability to breathe, eat or even walk.
Despite being clinically trialed in the US at six months old, she still has lingering effects.
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Samuel had a one in four chance of getting the same disease that could be fatal after a year a few years ago.
Not wanting to take any chances, the medical team at Montreal Children’s Hospital approved very expensive gene therapy for Samuel nine days after his birth.
When Samuel’s mother was pregnant, tests were carried out that suggested he might have the rare disease.
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Four months later, the toddler has no symptoms of spinal muscular atrophy, his doctor is pleased.
The costs associated with the drugs have been fully reimbursed by RAMQ since 2021.
“He wouldn’t sit, he wouldn’t have control of his trunk, he’d lose his reflexes, he’d have more difficulty breathing, he wouldn’t be able to eat at that age.” We know her sister had difficulty swallowing and in suffocated at that age,” explains Dr. Myriam Oskoui, a neurologist at McGill University Hospital Center.
Although she wishes her daughter had benefited from the same medication her son received, Samuel’s mother is pleased with medical advances in the fight against spinal muscular atrophy.
She admits that her daughter’s health literally saved her son’s life.
“It’s like a bittersweet feeling, let’s put it that way. We were so ready for Arianne, but she’s still in the generation where there wasn’t much. But now we know that thanks to this disease, children today will not experience the negative effects of this disease as they are treated and detected earlier. He will not experience that his muscles do not work, that he cannot walk, that he cannot sit,” explains Audrey Bouchard in an interview with TVA Nouvelles.
As of 2021, 21 patients at Montreal Children’s Hospital have received Zolgensma, considered one of the most expensive drugs in the world.
*See Harold Gagné’s explanations in the video above*
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