What there is to know
- People from Saguenay–Lac-Saint-Jean, Charlevoix and the Haute-Côte-Nord are invited, before conceiving a child, to be tested to find out if they carry one of the four very widespread hereditary diseases in these regions.
- For three years, triathlete Pierre Lavoie and health professionals have been fighting for the inclusion of two other very serious hereditary diseases.
- Each test costs $10, but Quebec has not yet given the green light.
“When Felix was born, I didn’t think he was going to live. He was so small, so deformed… When he was 2 months old, we were told that he had mucolipidosis type II, a fatal disease. »
Audrey Imbeault and her partner, who live in Chicoutimi, had nevertheless played it safe. They had already been tested to find out if they were carriers of one of the four hereditary diseases which have a large number of carriers in the regions of Saguenay–Lac-Saint-Jean, Charlevoix and Haute-Côte- North. This was the case for Audrey for one of them, but since her partner’s screening test was negative, they were not at risk. It was therefore without worry that she chose to have a fourth child, especially since her three other children are healthy.
Without knowing it, however, both spouses were carriers of mucolipidosis, “a disease I had never heard of,” she notes, and which is not screened for.
At 14 months old, her son, who weighs barely five kilos and whose life expectancy is eight years at most, is not walking. He suffers from degeneration of the heart and lungs, as well as delayed physical and intellectual development. He cannot feed normally and any virus can be fatal.
“His body and brain will not develop any more than those of an 18-month-old child,” says his mother, who changed jobs to have more time to care for him.
What does she hope for her child? “Let him live as long as possible, as long as he has a certain quality of life. We have already decided, with my partner, that if his condition deteriorates, we will not request resuscitation. »
In an interview, triathlete Pierre Lavoie, father of two children who succumbed to lactic acidosis – one of the four diseases detected since 2009 – fumes. For three years he has been advocating for mucolipidosis as well as Zellweger syndrome to be added to the four diseases already detected.
Adding these two other diseases would only cost $10! Clearly, our system is allergic to prevention.
Pierre Lavoie, triathlete
The screening system is already well established, notes Mr. Lavoie. The testing kit arrives by mail, people just need to send back a home swab from their cheek with a cotton swab. In a few days, they learn whether or not they carry a disease. The screening test for the two diseases to be added would be done using the same sample as for the other four.
If the couple is a carrier, they can then decide to procreate anyway – despite the high risk of having an affected child – or to resort to in vitro fertilization, using the partners’ eggs and spermatozoa, or a artificial insemination.
An overwhelmed consulting organization
The problem: the National Institute of Excellence in Health and Social Services (INESSS), an independent organization which advises the Ministry of Health and Social Services (MSSS) and which has the file in hand, says it is overwhelmed. “We invite you to contact the MSSS who will be able to explain to you its decision-making operations for screening files” and “the prioritization of files,” the organization replied.
The files on mucolipidosis and Zellweger syndrome “are not blocked, they are well underway for publication by summer 2024”, adds INESSS, which includes in its response a list of around ten its recent or future productions (particularly relating to other types of screening) which have been prioritized.
“We are aware that the delays linked to such work can be a source of dissatisfaction, but this is complex work and expertise,” adds INESSS.
“We are very sensitive to the situation of people living with this disease,” replied Antoine de la Durantaye, Minister Christian Dubé’s press secretary, “and we agree that prevention is a priority. We are in contact in particular with Pierre Lavoie. We will wait for the recommendations of the INESSS experts before commenting further. »
What is delaying the implementation of screening is in particular the fact that INESSS has decided to first hold a public consultation on the subject. An aberration, according to Mr. Lavoie, since the other four diseases have already been the subject of such consultations and social acceptability is extremely high in the region.
Pierre Lavoie wants to finance the screening himself
“There, we’ve had enough,” complains Pierre Lavoie. It’s really not what I want, but we’re going into plan B mode. We’re going to start a foundation, make a wrinkled bicycle and we will finance this screening ourselves. It’s too long with the Ministry of Health. »
That babies are born with such cruel illnesses, that families experience bereavements as painful as those he himself experienced, when everything is ready and at very low cost, is downright unbearable to Mr. Lavoie, who already funded more than 200 research projects on orphan diseases.
Pediatrician Mathieu Desmeules, who practices at the Chicoutimi hospital, says he himself is very irritated by the length of the delays. In his young practice, he has already had to break the impossible news five times to parents or support very young children in palliative care.
The relevance of adding two illnesses to screening appears obvious to him when we think of the difficult bereavements these illnesses entail, and also the costs incurred by a single day in the hospital, not to mention the cost of care. intensive. Added to this are “all these taxes that parents don’t pay, the unemployment that they often have to pay and everything else”, because parents often have to give up their work and devote themselves entirely to the care of their child sick.
Health personnel in the region are very mobilized. Luigi Bouchard, biochemist and head of the molecular biology and genetics department at the CIUSSS du Saguenay–Lac-Saint-Jean, is one of those who made the request to add screening for mucolipidosis and Zellweger syndrome ago is now three years old.
He doesn’t understand the delays at INESSS either.
Every 18 months, a child is born here with one of two diseases.
Luigi Bouchard, biochemist and head of the molecular biology and genetics department at the CIUSSS du Saguenay–Lac-Saint-Jean
He confirms that if the green light was given, “we could launch screening in a few days” given that the necessary infrastructure is already in place.
Mr. Bouchard does not understand the need to hold public consultations. All this has already been done for the other four diseases, he also notes.
Very rare people have feared eugenics, but Mr. Bouchard points out that the test is optional.
This is a screening to be carried out before conception – or at the start of pregnancy –, the idea being to allow couples to have all the information in hand to make a free and informed decision, without any pressure, whatever whatever their choice.