Saved by the world’s most expensive drug, little Raphaël is making rapid progress

Hands covering his mouth, crying loudly, legs bending when you scratch your foot: Just two months after undergoing a $2.8 million treatment, little Raphaël is making small improvements every day, much to the delight of his parents.

• Also read: [PHOTOS] Little Raphael saved the world’s most expensive drug

“We don’t think he would be with us today without treatment. The doctors gave him only a few months to live. To see that there is no longer a step backwards, but also small gains, that is the greatest gift,” emphasizes Éliane Leroux-Lafortune, 33, and looks tenderly at her son.

In June, the baby received a dose of Zolgensma, the world’s most expensive drug.

This week, in the waiting room at Sainte-Justine University Hospital Center in Montreal, the toddler held his father’s finger in his green hoodie that read “Anything is Possible.”

When he received the drug in June, the fragile baby, here in his mother's arms, was barely moving.

Photo archive, agency QMI

When he received the drug in June, the fragile baby, here in his mother’s arms, was barely moving.

A detail that may seem insignificant but reveals all the progress in a short time: two months ago the little one barely moved his arms and even less his legs. He also had trouble drinking his milk.

Because the 3-month-old baby has Type 1 Spinal Muscular Atrophy, a degenerative disease that kills the motor neurons responsible for muscles. Those affected gradually lose the use of their limbs and vital functions such as breathing or swallowing. Once lost, these abilities are virtually unrecoverable.

Slowly but surely

At $2.8 million per dose, Zolgensma is the most expensive drug in the world.

Photo archive, agency QMI

At $2.8 million per dose, Zolgensma is the most expensive drug in the world.

Raphaël’s first month of life was a real struggle to ensure he was treated with the $2.8million drug to halt the progression of the disease as soon as possible.

Two months after the injection, he is making progress day by day, to the great relief of his parents, who see hope of an independent life burgeoning.

“He started holding his head where he had no control before. He moves his legs a little. He can put his hands to his mouth,” lists his father, Mathieu Thibault, 38.

drug 2.8 million

For a few days now, the “little wolverine”, as his mother affectionately calls him, has even had enough strength to breastfeed. He is also much more vocal, burying his parents with his screams several times during the interview.

“It’s very encouraging for us. There is a lot of hope for the future, but still remain realistic,” she said.

Now covered

For the dD Cam-Tu Émilie Nguyen, pediatric neurologist, the results are “music to her ears”.

drug 2.8 million

And now that the government has announced that all newborns will be offered screening for Raphael’s disease and their expensive drug will be covered, the neurologist is eagerly pursuing research into new treatments to improve their quality of life.

“Science in this area has grown by leaps and bounds in recent years. We are waiting for more data on these treatments because we want to be sure that they are effective but also safe,” she explains.

drug 2.8 million

Encouraging for the future

For example, a drug being tested in clinical trials in the US to see if it would benefit from a combination with Zolgensma could help produce a muscle-building protein. The preliminary results of risdiplam are promising: a little girl was able to stand up. The latter is approved in Quebec for children from the age of two months.

“Anything that can help him strengthen himself at the muscular, respiratory and digestive levels is care that he won’t need in the future,” specifies his mother.

Meanwhile, the couple enjoys every little win day after day.

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