[PHOTOS] Little Raphael saved from the most expensive drug in the world

After a frantic race against time to prevent the progression of his rare degenerative disease, a one-month-old baby was given a drug costing about $ 2.8 million – the most expensive in the world – on Friday. aspire to an almost normal life.

• Read also – “Everything Can Change”: Newborns will be offered screening for a rare degenerative disease

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

In his room at the CHU Sainte-Justine, the one-month-old baby chirped happily, as if he knew he was about to receive the most expensive medicines in the world. Zolgensma must not only stop the disease, but also allow it to savor life.

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

In the hospital, on the morning of D-Day, the fever then made itself felt between the child’s parents and pediatric neurologist Cam-Tu Nguyen, who went out of his way to speed up the process.

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

“The sooner he gets treatment, the better, because he won’t find the neurons that are dead,” stresses the 33-year-old mother.

Win time

Without even waiting for confirmation of the diagnosis he suspected, D^D. Nguyen was therefore quick to put the tests in motion, to anticipate the administration of the treatment.

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

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

This will allow the disease to be detected and treated even before even children develop irreversible symptoms.

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

$ 2.8 million drug

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

“He was born at the right time,” says her mother, feeling lucky that the drug is now available.

Most of those who receive the treatment are able to improve their motor skills and “do things previously impossible for them”, specifies the D^D. Nguyen.

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

“They are the ones who have given us hope. Because the first time we felt ‘spinal muscular atrophy’, that wasn’t 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, and then undergo a long rehabilitation process.

“Of course he will not have the same life as his brother or sister, but he will have a life of his own, with an autonomy that will allow him to study and work. This is our greatest wish ”, concludes the mother.

– Listen to Patrick Déry’s interview with Éliane Leroux-Lafortune on QUB radio:

WHAT IS SPINAL TUSITROPHY?

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