The life of a Matane family changed overnight when their 11-year-old son was rushed to hospital with terminal heart failure. Diagnosed with a rare genetic condition, the boy will now need to get a new heart to be able to leave the hospital one day.
William Lévesque led a normal life before he “fell into the void”, as his mother, Jessica Simard, tells it. The boy did have a few signs that suggested something was wrong, such as woolly hair and skin issues, but nothing that the doctors saw fit to investigate further (see other text below).
However, since his birth, Naxos disease, which also causes dysplasia of the right ventricle, was gaining ground and eating into his heart. Result: it was in terminal heart failure that he presented himself to the emergency room of the Matane hospital on the 1er September evening.
This is where the ground gave way under the feet of Jessica Simard and her husband, Jonathan Dubé, who have four other children at home.
From Matane, William was quickly transferred to Rimouski, then to Quebec by air ambulance. At the CHUL, the doctors are so insecure that they are preparing Mme Simard at worst. “They told me he might not make it through the night, his heart was so close to giving up,” says the mother with emotion.
Courtesy picture
William with his mother, Jessica Simard.
Inevitable graft
The young boy is finally stabilized, but he will spend 14 days at CHUL before being transferred to Montreal in mid-September. This is where the ax falls, where the prognosis is confirmed. William needs a heart transplant if he wants to survive.
“I had a nervous shock, I lost consciousness,” says his mother, who is still struggling to pronounce these words.
It was William’s stepfather, Jonathan, who broke the news to him. A discussion “that one should never have with a child”, but that the young man welcomed with wisdom and courage worthy of the fighter he already is.
“He just told me that if life decided to give him that second chance, that he was going to take it,” says Mr. Dubé.
“He took it better than us,” adds his mother. “He has incredible resilience.”
Hard every day
Courtesy picture
Young William surrounded by his two brothers and two sisters.
The image of free fall often comes up when Jessica Simard and Jonathan Dubé tell their story. With four other kids at home, one salary that’s been on hiatus since September, and a newly purchased house that was being renovated, there’s no other analogy to describe how the family is feeling.
“And the worst part is that we don’t know when it’s going to stop,” sighs Mme Simard, not knowing how long it will take for William to receive a heart and one day be able to return home.
“It’s difficult, it’s several months of stress and anxiety for us and for the children, even if we don’t want them to pay the price so much. It’s hard because every day someone is missing in the house. When we have dinner with the family, there is an empty chair”, the mother bursts into tears, thinking of her son hospitalized 650 kilometers from home.
Thumbs up
Fortunately, the Matane and surrounding community took care of the little family. Fundraising, crowdfunding, many helping hands, William and his loved ones are supported in the fight they lead. The young boy even received a visit from his favorite youtubeur, PoloBleu, in his hospital room.
“He was so happy, he was crying when we told him,” says his mother with emotion, happy to see her son having these little moments of happiness through the difficult times that any child experiences forced to lock himself in a bedroom. ‘hospital.
“He’s going to come out of this having matured so much too quickly, you have to keep those little moments.”
Naxos disease in brief
- Cause: gene mutations
- Symptoms: woolly hair, skin problems especially in the palms of the hands and the soles of the feet, cardiomyopathy caused by dysplasia of the right ventricle
- Origin: Pathology initially observed on the Greek island of Naxos, it is found mainly in the Mediterranean region.
- A scientific article published in 2017 shows that the genetic mutation has however been observed in Quebecers with no ancestor from this region of the world, showing that the genetic modification at the origin of the disease could also have developed here.
A disease that could have been diagnosed and slowed down
The mother of young William Lévesque is still struggling to understand why doctors did not detect the syndrome earlier, which will force her son to undergo a heart transplant, when he had been showing signs of it since birth.
At age 5, William was seen by a specialist doctor for his skin problems and woolly, scanty hair. His mother, Jessica Simard, remembers that the doctor told him at that time about Naxos disease, but that it was impossible for William to suffer from it because this syndrome is observed in the vast majority in the Mediterranean region.
“They took a hair and she said to me, ‘There are two possibilities: either it’s Naxos or it’s just cosmetic.’ And instead of pushing, they stayed on the aesthetics, saying it was nothing serious,” says Mme Simard, adding that a specialized blood test could have detected the problematic gene.
important years
And it’s not for lack of trying. Each time she saw the doctor with William, Jessica Simard expressed her concerns. Especially since the little one cried constantly in his early childhood. But no one went further.
“That’s what is even more infuriating,” laments the mother, who believes that her son’s life could have been very different.
“If at 5 years old, they had pushed further, we would have known. And he would have been followed. His heart failure could have been treated and he might have been able to go to 25, 30, 35 years before considering a transplant, ”insists Mme Simard.
These additional years would have been all the more important since a heart transplant has a limited lifespan.
“William won’t be off the hook with a new heart. It will change his life and we do not know at what age he will go. If we could have saved 20 years by diagnosing what he had, we would have given my son more years of life rather than transplanting him at 11 years old. It doesn’t help ease my pain.”