After a frantic race against time to stop his rare degenerative disease from progressing, a one-month-old baby on Friday received a drug worth around $2.8 million – the world’s most expensive – that will allow him to have a baby to aim for an almost normal life.
• Also read – “It can change everything”: Newborns are to be offered screening for a rare degenerative disease
“He doesn’t know yet, but it’s a great day for him,” Eliane Leroux-Lafortune whispered to her little Raphaël just before he received the treatment that would save his life.
In his room at CHU Sainte-Justine, the one-month-old baby chirped happily, as if knowing that he would soon receive the world’s most expensive drug. Zolgensma must not only stop the disease, but also allow her to taste life.
Photo agency QMI, 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 muscles. Those affected gradually lose their arms and legs, but also their vital functions such as breathing or swallowing. Without treatment, most die within the first two years.
Photo agency QMI, Thierry Laforce
In the hospital, therefore, on the morning of D-Day, the fever was felt by the baby’s parents and pediatric neurologist Cam-Tu Nguyen, who made every effort to speed up the process.
Photo agency QMI, Thierry Laforce
Because this disease leaves no room for hesitation: in just a few weeks of symptoms, the little one has already lost some skills that he may not necessarily regain, such as the use of his legs. He also has trouble drinking his milk and needs a machine at night to help his lungs breathe.
Photo agency QMI, Thierry Laforce
“The earlier he is treated, the better, because he cannot find the dead neurons,” emphasizes the 33-year-old mother.
Photo agency QMI, Thierry Laforce
gain time
Without even waiting for confirmation of the diagnosis she suspected, Dr. Nguyen to initiate testing 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 5-7 days.
Photo agency QMI, Thierry Laforce
Raphaël’s diagnosis finally came on June 9, the same day the government announced that screening for spinal muscular atrophy would now be offered automatically to all newborns.
Photo agency QMI, Thierry Laforce
This makes it possible to identify and treat the disease before the babies even 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.”
Photo agency QMI, Thierry Laforce
Drug worth $2.8 million
Fortunately, the $2.8 million drug, which is given by IV, has been adopted by the government since October.
Photo agency QMI, Thierry Laforce
The Zolgensma drug costs $2.8 million.
“He was born at the right time,” says his mother, who considers herself lucky that the drug is now available.
Many of those who receive treatment are able to improve their motor skills and “do things they couldn’t do before,” says Dr. nguyen
Photo agency QMI, Thierry Laforce
For parents, after several emotional weeks, there is light at the end of the tunnel. 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 when we first heard “spinal muscular atrophy”, we didn’t feel that way at all,” breathes the mother.
Photo agency QMI, Thierry Laforce
To avoid complications, the little one will have to remain isolated 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 his own life, with autonomy that will allow him to study and work. That is our greatest wish,” concludes his mother.
Photo agency QMI, Thierry Laforce
WHAT IS SPINAL TUSYTROPHY?
- It is a neurodegenerative genetic disease
- It is caused by the mutation of a gene that must ensure the survival of motor neurons
- Until the advent of new treatments, it was the leading genetic cause of death in children under the age of 2.
- Type 1 spinal muscular atrophy is the most common and most severe
- It affects 1 in 10,000 births.
- 7 to 8 children are born with the disease in Quebec each year.
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