2023-12-20 11:11:29
As soon as Felix was born in October 2022, his parents knew something was wrong. The baby had particular features, he was very small, his legs were arched. It took two months for the diagnosis to be made: type II mucolipidosis.
When we got the diagnosis, we were stunned, really, remember Audrey Imbeault and Éric Demers.
There is reason to be. The disease deforms bones, causes breathing difficulties, degeneration of the heart and lungs, and delayed physical and intellectual development. At 14 months, Félix cannot eat normally. It weighs barely 5 kilos.
He never slept through the night. He is still in a shell. He’s like a little baby still being born that I’ve been taking care of all year round, you know, it’s the bottles. He gets up at night, he wants his drinks, explains his mother.
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Félix suffers from type II mucolipidosis.
Photo: Radio-Canada / Mireille Chayer
The prognosis is very grim. The life expectancy of children like Felix ranges from approximately 4 to 8 years.
We think about it every day, but we try to stay positive. Seeing it makes us smile. You know, we love him, forget his mother.
In Saguenay-Lac-Saint-Jean, approximately one in 40 people carry the defective recessive gene that causes mucolipidosis type II. This is much more than in the rest of Quebec. Two carrier parents have a 25% risk of having an affected child. The same goes for Zellweger syndrome, another fatal disease that is seen more often in the region than elsewhere.
Tests exist to determine whether parents are carriers of one or other of these diseases, but, at the moment, there must be an affected child in a family for members to be able to do them.
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Félix is 14 months old, but he weighs barely more than 5 kilos.
Photo: Radio-Canada / Mireille Chayer
These are diseases that should appear less often than one birth per million and in Saguenay-Lac-Saint-Jean, we have them almost every year, mentions pediatrician Mathieu Desmeules.
Like other colleagues, he advocates the addition of mucolipidosis type II and Zellweger syndrome to the carrier testing offering.
Long delays
A request was made almost three years ago to the Ministry of Health and Social Services to add the two diseases to the test offer already existing since 2018 in Quebec for four regional hereditary diseases, namely lactic acidosis, spastic ataxia of Charlevoix Saguenay, sensorimotor neuropathy and tyrosinemia.
Three years to answer a question is an abnormally long time. Then in these three years, when I explain to parents that their child is going to die, I find it unacceptable.
The request for addition is currently being evaluated by the National Institute of Excellence in Health and Social Services. Once its evaluation is completed, INESSS will give its opinion to the ministry, which will decide.
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Since 2018, people from Saguenay-Lac-Saint-Jean, Charlevoix or the Haute-Côte-Nord can request a kit to find out if they carry lactic acidosis, spastic ataxia of Charlevoix- Saguenay, sensorimotor neuropathy or tyrosinemia.
Photo: Radio-Canada / Mireille Chayer
Deadlines are long. Impatience is felt.
To get a no, then an explanation, that’s one thing. To have a lack of response when the file is put together, when the information is available, that’s another thing, maintains pediatrician Desmeules.
The wish of researchers, doctors, CORAMH, and the entire community is to use the same concept that already exists to add these two diseases. So, it’s not something that is very complex. It’s really just about tying up the financing and then having the approval, the ok from the ministry to be able to proceed, adds genetic counselor Josianne Leblanc, from the CIUSSS du Saguenay-Lac-Saint-Jean.
Tests analyzed in Chicoutimi
Carrier test analyzes are done every week in Luigi Bouchard’s laboratory at Chicoutimi hospital.
The head of the molecular biology and genetics department at the CIUSSS du Saguenay-Lac-Saint-Jean and full professor in the department of biochemistry and functional genomics at the University of Sherbrooke affirms that adding mucolipidosis type II and the syndrome of Zellweger would only 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 in hand, we already have the DNA in hand, doing two more is really not much more work. We’re talking about $10 more to be able to deal with these two additional illnesses. At the moment, it’s around $25 to $30 for the laboratory to do the analysis, illustrates Luigi Bouchard.
Across Quebec, the program costs approximately $100,000 per year. According to Mr. Bouchard, it would take $10,000 to $15,000 more to improve it.
Response from INESSS
By email, INESSS defends itself by specifying that it receives numerous analysis mandates linked to screening practices each year.
We are aware that the delays linked to such work can be a source of dissatisfaction, but this is complex expert work and INESSS must ensure progress and management of the various priority and important mandates entrusted to it. .
The organization plans to make 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 is upstream, before problems arise, he insists.
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Lactic acidosis killed two of Pierre Lavoie’s four children.
Photo : Radio-Canada
He would like to create an alternative model to allow screening now.
There is frustration from the pediatricians, frustration from the hospital too, the management of the Chicoutimi hospital, the laboratories, the parents and I think that the region must be offended. Then we say to ourselves: “Can we take care of our business ourselves?”
The tests are not intended to eliminate children like Felix, but rather to allow their parents to make an informed decision in advance.
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Approximately one in 40 people carry type II mucolipidosis in Saguenay-Lac-Saint-Jean.
Photo: Radio-Canada / Mireille Chayer
Éric Demers and Audrey Imbeault had carried out the carrier tests already available.
If they had known that their child would have mucolipidosis type II, they probably would have terminated the pregnancy. They are crazy about their son, but still want things to move quickly.
We really want to prevent other parents from having to experience this, says Audrey Imbeault, her son in her arms.
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