On your feet thanks to the most expensive medicine in the world

Little Jacob is one of the children to have received Zolgensma, an expensive treatment with “unimaginable” effects.

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Emilia Bilodeau

Emilia Bilodeau
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Nine Quebec children have received the most expensive drug on the planet, a $ 2.8 million treatment that slows spinal muscular atrophy, since it was reimbursed by Quebec. The effects of this new therapy have so far exceeded the expectations of families and doctors.

Jacob gets up! He leans against a table, drives a truck and mumbles the noises of the engine. This scene would have been unthinkable just a few months ago. “What you gain so much strength is unimaginable! exclaims Audrey Cueillierrier, the baby’s mother.

The 2-year-old has spinal muscular atrophy, a degenerative disease that attacks the muscles, breathing, swallowing and heart. Until 2019, before the first treatments appeared, the disease was the leading genetic cause of death in young children.

Jacob, who was diagnosed around 1 year old, had to undergo four lumbar punctures and four Spinzara injections, under general anesthesia, in a few months. Treatment should be given every four months.


Two-year-old Jacob had never stood up before Zolgensma’s treatment.

However, the child’s life took a turn when Zolgensma was placed on the List of drugs provided in institutions and covered by the Régie de l’Assurance maladie du Québec last October.

Jacob received his fix of Zolgensma on November 24th. Only one injection is needed. “We didn’t sell it as a wonder drug,” says Audrey Cueillierrier. But so far, we are so happy with the results. It is beyond our hopes! ”

Jacob has progressed so much. He gets up, which he had never done before. Sure we have to help him and he needs some support, but once he’s on his feet he can stay that way for a few minutes.

Audrey Cueillierrier, mother of Jacob

The pharmaceutical company Novartis, which makes Zolgensma, does not claim to cure spinal muscular atrophy. He says his medications, recommended for babies under 6 months, “slow the progression of the disease.” But Jacob, however, saw his quality of life improve.

He has more energy, goes from sitting to lying on his own, heals better from small viruses such as the common cold because he has more strength in his lungs, note his parents Audrey Cueillierrier and Frédérick Beaulieu.

“He also starts crawling a bit. He lifts his buttocks, pushes his knees and moves forward with his arms. He’s not completely crawling, but we can see he is coming,” continues the mother of the family, who hopes to see one day. his son walking.

Towards newborn screening?

Jacob’s case is far from unique, confirms pediatric neurologist Cam-Tu Émilie Nguyen, who follows children with spinal muscular atrophy at CHU Sainte-Justine.

“I didn’t think we would see clear and sharp effects that quickly,” said the neurologist who will present the results of the treatment at the gene therapy conference organized by the University of Montreal’s faculty of pharmacy on Thursday. .


Cam-Tu Émilie Nguyen, pediatric neurologist

There is a difference in the core strength of children. These stand much more firmly. Parents told us they turned their backs for a few seconds and their baby moved. Previously, this type of situation was impossible for them.

Cam-Tu Émilie Nguyen, pediatric neurologist

“Sometimes babies didn’t reach their target weight because they had difficulty chewing and swallowing. With the Zolgensma treatment, children have more appetite, gain weight, have more energy to play all day ”, continues the pediatric neurologist.

The National Institute of Excellence in Health and Social Services also recommended, last November, adding spinal muscular atrophy to the list of diseases screened from birth to children. as in Ontario and Alberta. The Quebec Ministry of Health and Social Services is currently investigating the matter.

“Gene therapy is an extremely expensive treatment, the most expensive treatment in the world. We therefore want to be able to use it in the window where it is most effective, that is, before the onset of symptoms “, says D.D. Nguyen.

Therefore, small patients with amyotrophy could develop like any other children their age.

Learn more

  • 8
    Number of children born with the disease each year, on average, in Quebec

    SOURCE: Department of Health and Social Services

  • 1/40
    Proportion of people who are genetic carriers of the disease, i.e. they are carriers of the mutant gene without being affected by the disease.

    SOURCE: Muscular dystrophy Canada

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