HEALTH. A couple living in Drummondville learned last year that their two daughters suffer from a rare degenerative neurological disease: juvenile metachromatic leukodystrophy. He makes a heartfelt cry to help one of them who has reached too advanced a stage of the disease.
Rosalie and Camille Latendresse, aged 15 and 9 respectively, both struggle with the juvenile form of metachromatic leukodystrophy. It is a genetic, hereditary, rare and fatal disease that affects one in 40,000 newborns, according to certain populations.
It all dates back to the COVID-19 pandemic. At the time, Rosalie’s parents, Maryse Latendresse and Michaël Bluteau, realized that their daughter had lower grades at school than before and that she was starting to be more and more disorganized. They first put this down to the destabilizing period that all young people of his age are going through at this time.
However, as the months pass, the Drummondville couple notices that Rosalie’s situation is deteriorating. “I really insisted with the family doctor [pour savoir ce qu’elle avait vraiment]. I told myself that it didn’t make sense! This is a child who had 90% all the time at school, and who barely managed to get 20%,” laments Maryse Latendresse met in her residence with her family.
While Rosalie has difficulty carrying out simple actions in her routine, such as eating breakfast and getting ready for school, the doctor, with the agreement of her parents, decides to have her undergo a magnetic resonance imaging exam. (MRI) of his brain. That’s when they notice something strange in the frontal cortex: there is less white matter than normal.
By consulting a pediatric neurologist in Sherbrooke and having genetic tests carried out last spring, the diagnosis was made. Rosalie does indeed suffer from the juvenile form of metachromatic leukodystrophy. Worse still, the teenager is at too advanced a stage of the disease to undergo treatment.
If the shock is hard to absorb, Rosalie and her parents qualify that knowing the diagnosis has lifted a huge weight from their shoulders. “We went from strict discipline to telling him that it’s not his fault what’s happening to him,” emphasizes Rosalie’s father.
Maryse Latendresse indicates that her two daughters are now closely followed by one of the few leukodystrophy specialists in Canada, Dr. Geneviève Bernard.
“A bad lottery”
Michaël Bluteau specifies that specialists have told them that the disease is hereditary. As a precaution, he and his partner also chose to have their youngest daughter, Camille, take tests last summer.
The diagnosis is unequivocal: Camille also suffers from the disease. However, unlike her older sister, she is only at an early stage of metachromatic leukodystrophy.
“We both have good and bad genes. So, we had a 25% chance that we would both pass on our bad gene to Rosalie and Camille… And that was our case. It’s like winning a bad lottery,” grumbles Mr. Bluteau.
The couple wasted no time and decided to have Camille undergo treatment at the CHU Saint-Justine in Montreal. The girl received a bone marrow transplant and remained in hospital for several weeks before being discharged last Thursday.
“I didn’t want to have an illness. I wanted to live a normal life without needing treatment and then being locked in a hospital and having lots of appointments there. I was heartbroken when I found out that me and my sister had [la même maladie]», laments the one who is currently in the third year of primary school.
Camille found this period difficult since she was ill for a long time, says her mother. However, her class gave her some comfort by sending her a large cardboard board with encouragement, signatures and little notes, and by doing regular Zoom calls live from the hospital.
“I was really, really, really happy to receive it. When I had difficult days, I looked at the board and it was as if it encouraged me to get through,” recalls Camille.
Her mother estimates that the treatment should give her young daughter a more normal life for about 15 years before the symptoms of metachromatic leukodystrophy surface.
-Call to the community
On the side of Rosalie, the 4th grade studente secondary school must now carry out their daily tasks using pictograms. Her parents tell her what she should do in the morning and evening on her space placed on the kitchen table. She also has one on the upper floor of the house where she sticks her pictograms, then she makes them one at a time, explains her mother.
Knowing that she is at too advanced a stage of the disease to undergo treatment, and that her situation will deteriorate to the point of loss of balance, the couple has determined that she will need a service dog. .
The parents recently found a specialized training school in Longueuil, Le chien bleu, to train a multitasking dog. The animal will be able to detect the fear hormone in Rosalie, help her when the anxiety is too strong and warn the parents when she starts to have epileptic seizures.
The cost of acquiring and training the dog varies between $25,000 and $35,000, estimates Maryse Latendresse. His cousin, Mélanie and Ghislain Bourassa, wanted to help him by asking for public input. They launched a fundraiser on the Gofundme website.
As of this writing, more than half of the targeted amount, $25,000, has been raised. Rosalie’s mother is aware that a service dog will not solve everything, but that it is a project that will be of great help to her daughter.
“Seeing my daughter degraded is what scares me the most because it means that I will slowly lose her. To move forward, I think we have no choice not to think about it because, otherwise, we become prisoners of fear and anxiety. The important thing is to be there for them and facilitate their present,” confides Maryse Latendresse.
The Drummondville family hopes to reach the goal by March 15, 2025. By reserving the assistance dog now, Rosalie’s parents ensure they have it ready for training in May, on site in Longueuil.
For those who wish to support, it is possible to go directly to the fundraising page at www.gofundme.com/f/a-dog-for-rosalie-un-chien-pour-rosalie.
What is metachromatic leukodystrophy?
According to pediatric neurologist at the Montreal Children’s Hospital and researcher at the research institute of the McGill University Health Center (MUHC), Dr. Geneviève Bernard, metachromatic leukodystrophy is one of the 50 types of leukodystrophy that exist.
It is a disease that is caused by a deficiency of the enzyme arylsulfatase A which affects the white matter of the brain responsible for the propagation of information in the nervous system. The myelin which surrounds the axons and which gives this structure its white color is responsible for the rapid conduction of the electrical signal.
Thus, “when a patient suffers from metachromatic leukodystrophy, the myelin [se décompose]which means that the neurons are less well protected and the brain functions less well,” summarizes Dr. Bernard.
This leukodystrophy is a genetic and recessive (or hereditary) disease where there must be an error on both copies of the genes transmitted by the father and the mother for the newborn to be affected by the disease.
It comes in three forms: late infantile, juvenile and adult. “The earlier the disease begins, the more aggressive and severe the disease, and the more rapid the deterioration. Conversely, the later the disease begins, the slower it is at the level of [dégénérescence du système nerveux]», insists Dr. Bernard.
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