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Advocacy for early detection of type 1 spinal muscular atrophy


The National Institute of Excellence in Health and Social Services (INESSS) recommends the addition of this disease to the program already existing in the province.

Detecting the disease earlier would allow babies to be treated immediately before they experience the effects of the disease.

On average, seven or eight children per year are born with type 1 spinal muscular atrophy in Quebec.

$ 450,000 donated by Nathan’s family

In Saguenay-Lac-Saint-Jean, the story of little Nathan Ouellet from Chicoutimi had moved the whole region.

His parents had raised $ 915,000 for him to receive the Zolgensma vaccine, a $ 2.8 million gene therapy.

The baby had finally received the treatment thanks to a lottery from the manufacturer Novartis.

Since then, Quebec has announced the reimbursement of the drug. Moreover, at the beginning of November, another young person from the region received her treatment, little Madison Lamarre.

Marc-André Ouellet is now campaigning for the disease to be detected from the first days of life of babies in Quebec.

It must be treated before the damage is done. Currently, the treatments are offered, the treatments are defrayed. The only thing left, the only thing left in the suit to put an end to this disease and the major impacts it has on children, is screening., pleaded the father.

Marc-André Ouellet says he is ready to offer up to $ 450,000 to help start the program or purchase the necessary medical equipment. The money comes from the family’s fundraising campaign last year.

Many in other countries are doing it; we have been doing it in Ontario for two years now. It is because it is possible to do it. I am addressing the ministers directly. Please make a quick decision, move quickly, he called out.

Screening will also be offered in Alberta as part of a pilot project that will be launched in early 2022.

A neurologist also in favor

The pediatric neurologist at CHU Sainte-Justine, Cam-Tu Émilie Nguyen, also wants the detection and treatment of the disease to be done as quickly as possible in the lives of affected children.

Studies have shown, for example, that when Zolgensma is started in children who do not yet have symptoms of type 1 spinal muscular atrophy, those children who are expected to develop type 1 spinal muscular atrophy have normal or almost normal motor development, introduced the doctor.

Newborns are already screened for several diseases. It is at this stage that it would be possible to add research for type 1 spinal muscular atrophy.

Contacted by TurnedNews.com, the Ministry of Health and Social Services affirms that it is analyzing the recommendations of theINESSS to determine the next steps to take.

Where will the money raised go?

The family’s GoFundMe campaign raised $ 915,000. Soon after they won the lottery for the drug, Nathan’s parents announced what they were going to do with the dollars raised through the GoFundMe campaign.

It had been established that a certain amount would be kept to meet his possible needs. In the past year, physiotherapy treatments and equipment cost $ 30,000.

The Chicoutimi-Nord toy station, which took part in the collection, received money. Subsequently, several foundations benefited from sums donated by the family, namely the Rachel and Fernand Gilbert Foundation, Cure SMA Quebec, Cure SMA Canada, Fondation du CHU de Québec as well as Muscular Dystrophy Canada.

However, it was also possible to request a refund. Thus, approximately $ 20,000 was returned to those who requested it.

Finally, as mentioned above, the family would now be ready to donate $ 450,000 for screening.

From a report by Claude Bouchard

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