When Félix was born in October 2022, his parents knew something was wrong. The baby had special features, it was very small, its legs were arched. It took two months until the diagnosis was made: mucolipidosis type II.
When we got the diagnosis we were really taken aback, think of Audrey Imbeault and Éric Demers.
There is reason for it. This disease deforms bones and causes difficulty breathing, degeneration of the heart and lungs, and delayed physical and mental development. At 14 months old, Félix cannot eat normally. It weighs barely 5 kilos.
He never slept through the night. He's still in a shell. He's like a little newborn that I have all year round, so it's because of the bottles. He gets up at night and wants something to drink, explains his mother.
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Félix suffers from mucolipidosis type II.
Photo: Radio-Canada / Mireille Chayer
The prognosis is very bleak. The life expectancy of children like Felix is between around 4 and 8 years.
We think about it every day, but we try to stay positive. When we see it, we smile. You know, we love him, forget his mother.
In Saguenay-Lac-Saint-Jean, about one in 40 people carries the defective recessive gene that causes mucolipidosis type II. That's much more than the rest of Quebec. With two carrier parents there is a 25 percent risk of having an affected child. The same goes for Zellweger syndrome, another deadly disease that is more common in the region than elsewhere.
There are tests to determine whether parents are carriers of any of these diseases. However, currently a child in a family must have this disease before members can have these tests.
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Félix is 14 months old but weighs barely more than 5 kilos.
Photo: Radio-Canada / Mireille Chayer
These are diseases that should occur less often than one birth per million, but in Saguenay-Lac-Saint-Jean we have them almost every year, mentions pediatrician Mathieu Desmeules.
Like some of his colleagues, he supports the inclusion of mucolipidosis type II and Zellweger syndrome in the carrier test range.
Long delays
Almost three years ago, a request was made to the Ministry of Health and Social Services to include these two diseases in the testing offer already in existence in Quebec since 2018 for four regional hereditary diseases, namely lactic acidosis, spastic ataxia of Charlevoix-Saguenay and sensorimotor neuropathy and tyrosinemia.
Three years is an unusually long time to answer a question. If I explain to parents during these three years that their child is going to die, I find that unacceptable.
The amendment application is currently being reviewed by the National Institute of Excellence in Health and Social Services. Once the assessment is completed, INESSS will submit its opinion to the ministry, which will then decide.
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Since 2018, people from Saguenay-Lac-Saint-Jean, Charlevoix and the Haute-Côte-Nord can request a kit to find out if they have lactic acidosis, Charlevoix-Saguenay spastic ataxia, sensorimotor neuropathy or tyrosinemia.
Photo: Radio-Canada / Mireille Chayer
The deadlines are long. Impatience is palpable.
Getting a no and then an explanation is one thing. Another reason is that people don't react when compiling the file when the information is available, says pediatrician Desmeules.
The wish of researchers, doctors and CORAMH [Corporation de recherche et d’action sur les maladies héréditaires, NDLR], the entire community, is to use the same already existing concept to add these two diseases. So it's not something that's very complex. “It's really just a matter of committing the funding and then getting the approval, the OK from the ministry to be able to proceed,” adds genetic counselor Josianne Leblanc of the CIUSSS du Saguenay–Lac-Saint-Jean.
Tests analyzed in Chicoutimi
Carrier test analyzes are carried out every week in Luigi Bouchard's laboratory at Chicoutimi Hospital.
Mr. Bouchard, head of the Department of Molecular Biology and Genetics at the CIUSSS du Saguenay–Lac-Saint-Jean and full professor in the Department of Biochemistry and Functional Genomics at the University of Sherbrooke, confirms that the addition of mucolipidosis type II and Zellweger syndrome would just be a formality.
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Luigi Bouchard heads the laboratory where carrier tests are analyzed at Chicoutimi Hospital.
Photo: Radio-Canada / Mireille Chayer
Given that we already have the sample and the DNA, it really isn't much more work to do two more. We're talking $10 more to be able to treat these two additional diseases. “The laboratory currently costs around 25 to 30 US dollars for the analysis,” explains Luigi Bouchard.
Across Quebec, the program costs about $100,000 per year. According to Mr. Bouchard, $10,000 to $15,000 more would be needed to improve it.
Answer from INESSS
INESSS defends itself via email by stating that it receives numerous analysis orders related to screening practices every year.
We recognize that the delays associated with such work may be a source of dissatisfaction, but this is complex, expert work and INESSS must ensure the progress and management of the various priority and important mandates assigned to it.
The organization plans to submit its recommendations to the ministry in 2024.
Pierre Lavoie angry
Triathlete Pierre Lavoie, who helped raise awareness of hereditary diseases, can't wait any longer after the institute.
Let's be consistent. Prevention comes before problems arise, he emphasizes.
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Two of Pierre Lavoie's four children died of lactic acidosis.
Photo: Radio-Canada
He wants to create an alternative model to enable screening now.
There is frustration among pediatricians, frustration among each other […] the management of the Chicoutimi Hospital, the laboratories, the parents, then I think the region must be offended. Then we say to ourselves, “Can we take care of our own business?”
The aim of the tests is not to exclude children like Félix, but rather to enable parents to make an informed decision in advance.
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Approximately one in 40 people in Saguenay-Lac-Saint-Jean has mucolipidosis type II.
Photo: Radio-Canada / Mireille Chayer
Éric Demers and Audrey Imbeault had passed the carrier tests already available.
If they had known that their child would have mucolipidosis type II, they would probably have terminated the pregnancy. They are crazy about their son, but still want it to happen quickly.
“We definitely want to prevent other parents from having to experience something like this,” says Audrey Imbeault, holding her son.