Raphaël will be able to taste life

After a frantic race against time to prevent his rare degenerative disease from progressing, a one-month-old baby was given a drug costing some $2.8 million on Friday – the most expensive in the world – which allows him to aspire to a life almost normal.

“He doesn’t know it yet, but it’s a great day for him,” whispered Éliane Leroux-Lafortune to her little Raphaël, just before he received the treatment that was to save his life.

In his room at the CHU Sainte-Justine, the one-month-old baby was chirping happily, as if he knew he was about to receive the most expensive medication on earth. Zolgensma must not only stop the disease, but also allow it to taste life.

Her parents, Éliane Leroux-Lafortune, 33, and Mathieu Thibault, 38, hope the screening will prevent other parents from going through the same thing as them.

Photo QMI Agency, Thierry Laforce

Her parents, Éliane Leroux-Lafortune, 33, and Mathieu Thibault, 38, hope the screening will prevent other parents from going through the same thing as them.

Raphaël suffers from spinal muscular atrophy type 1, a neurodegenerative genetic disease that kills the motor neurons whose function is to control the muscles. Those who are affected gradually lose the use of their arms and legs, but also of their vital functions, such as breathing or swallowing. Without treatment, most die within the first two years.

At the hospital, on the morning of D-Day, the feverishness was therefore felt among the baby’s parents and the pediatric neurologist Cam-Tu Nguyen, who went out of her way to speed up the process.

Because this disease leaves no room for hesitation: in just a few weeks of symptoms, the little one has already lost several abilities that he will not necessarily be able to regain, such as the use of his legs. He also struggles to drink his milk and needs a machine at night to help his lungs breathe.


Photo QMI Agency, Thierry Laforce

“The sooner he has the treatment, the better, because the neurons that are dead, he will not find them”, underlines the 33-year-old mother.

Win time

Without even waiting for confirmation of the diagnosis she suspected, Dr. Nguyen therefore hastened to set in motion the tests, to advance the administration of the treatment.

“A week can make all the difference,” explains the doctor, who specializes in neuromuscular diseases. It was a race against time. I think we managed to gain at least 5 to 7 days. »

Raphaël’s diagnosis finally fell on June 9, the same day the government announced that screening for spinal muscular atrophy would henceforth be offered automatically to all newborns.

This will make it possible to detect and treat the disease even before the babies also develop irreversible symptoms.

“It’s no coincidence,” says his mother. We hope that Raphaël will be the last in the province to experience this. If the others are treated before they have symptoms, it will change the course of their lives. »

$2.8 million drug

Fortunately, the $2.8 million drug, administered by infusion, has been covered by the government since October.

The drug Zolgensma costs $2.8 million.

Photo QMI Agency, Thierry Laforce

The drug Zolgensma costs $2.8 million.

“He was born at the right time,” says his mother, counting herself lucky that the drug is now available.

Many of those who receive treatment are able to improve their motor skills and “do things that were impossible for them before,” says Dr. Nguyen.

For parents, it’s light at the end of the tunnel after several emotional weeks. They thank the entire team of specialists at the hospital, who coordinated to save their little man.

“They are the ones who gave us hope. Because the first time we heard ‘spinal muscular atrophy’, that’s not how we felt at all,” breathes the mother.

To avoid complications, the little one will have to remain in isolation for the next few months, then undergo a long rehabilitation process.

“Of course he won’t have the same life as his brother or sister, but he will have his own life, with autonomy allowing him to study and work. This is our greatest wish, ”concludes his mother.


  • It is a neurodegenerative genetic disease
  • It is caused by the mutation of a gene which must ensure the survival of motor neurons
  • Until the arrival of new treatments, it was the most common genetic cause of death in children under 2 years old.
  • Spinal muscular atrophy type 1 is the most frequent and the most severe
  • It affects 1 in 10,000 births.
  • 7 to 8 children are born with the disease each year in Quebec.

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