On march 13, thousands of Quebecers have had to put life on pause, but the life of the children affected by the disease, she continued her journey, littered with challenges and pitfalls, but also great successes, and hope. Respecting each of the measures of social distancing in place, the téléthon Opération enfant Soleil has, today, its 33rd edition, which highlights 17 Sun Children. The Journal introduces you to three of them.
Little man with the very rare disease
Eliott Girard, 3 years, Child Sun of the region of Saguenay–Lac-Saint-Jean, suffers from epilepsy dependent on Pyridoxal 5 Phosphate gene variant PLPBP.
Born while he was in the midst of a crisis of epilepsy, the small Eliott Girard suffers from a disease that only affects about forty children listed, dead or alive, around the world.
A few hours after his birth, because the state of the infant was very disturbing, Elliott has been transferred from emergency to the Centre mère-enfant Soleil of the CHU de Québec.
Eliott being plunged into a medically induced coma, his parents, Karolane Potvin and Alexandre Girard could neither touch it nor take it in their arms because their son was too sensitive and the slightest touch could trigger reactions epilepsy.
Strong of several years of studies to become a science teacher, the dad of Eliott was, therefore, put in search mode with several specialists to understand what was affecting her son.
After months of anxiety and stay in the hospital, where Elliott has him packing between death and life, the official diagnosis has fallen : the toddler suffered from epilepsy dependent on Pyridoxal 5 Phosphate gene variant PLPBP.
“A small cap on his tummy “
“In a nutshell, Elliott does not have the protein that would be responsible for protecting and maintaining the concentration desired of vitamin B6 active (Pyridoxal 5 Phosphate). It is for this reason that he now receives, to four hours, the capsules of this vitamin. It is capable of producing, but not of the store “, explained the Newspaper, the young dad of 27 years.
This medication intensive has forced physicians to perform a gastrostomy on the young boy who now has ” a small cap on his bulge.” “The gastrostomy allows you to drop the capsules of vitamins directly into the stomach of Eliott, which is much more simple because the amount given must always be the same,” added the dad, who knows, however, that the battle is not won yet.
Epilepsy is better controlled
“The disease of Eliott is very rare. There are thirty or forty cases of children, dead or alive, in the world and, in Canada, there would be two cases alive, ” he said.
Today, Elliott is 3 years old. Their epilepsy is better controlled. Even if he does not speak, he expresses himself and manages to make himself understood to his parents, who are aware that the challenges ahead remain very large for their little man.
“We put our life on pause in order to adapt to that of Elliott, but, as has already been said Boucar Diouf, the fear of death gives us the intelligence to adapt. This is what drives us, and we don’t have the choice to reinvent ourselves, day after day, to face the reality “, said the dad, a philosopher.
A warrior at heart particular
Eloise Parisé, 13 years, Child of the Sun in the Centre-du-Québec, was diagnosed with hypoplastic right ventricle with pulmonary atresia.
Eloise Parisé was only 6 days when she was carried by ambulance to the hospital in Laval for open-heart surgery. In the fall, the 13 year old girl will undergo his fifth heart operation.
At the end of the month of February, the young girl has met with his cardiologist in view of this operation.
“I asked if it was dangerous for my life, if it was going to hurt, how long the operation was going to last… “, mentioned the young girl who needs to replace the case out of the pacemaker.
“A fighter “
“Unlike the surgeries that she has had in the first days of his life, and then at eight months, three and four years, it will not be open heart surgery… The risks are minimal, but it is still a surgery and it’s still our child,” said Catherine Carignan, mum to Eloise, who described his daughter to ” swing “.
At the age of 4 years, Eloise had already received “all the surgeries that she could have” and if one day, his little heart was starting to go wrong, a transplant could be considered.
“It’s been about twenty years that the doctors performed the surgery called the Fontan, that Eloise has had in 4 years. So it’s quite recent as well as technical and they have never conducted a child at the end of it. For our daughter, it still works well then all the hopes are allowed, ” added Catherine, who has seen his daughter blossom more and more.
It answers your questions
Proud ambassador of the telethon Operation enfant Soleil for the Centre-du-Québec, Eloise has set up an account with Instagram and a page on Facebook bearing his name and, through its twists and turns ado, she talks about his illness and answers questions.
A way nice to know this young warrior in the ” little heart special “.
Hope for a young boy
Matéo Kenuajuak, 2 years, Child Sun of the Montérégie region, has received a diagnosis of Duchenne muscular dystrophy.
The disease that affects the small Matéo reduces life expectancy to 20 or 30 years, but her loved ones maintain hope that soon, research will help their little ray of sun shine even more strong, and especially longer.
When you look at the young man that is Matéo Kenuajuak, 2 and a half years, one cannot help falling under his charm.
In his eyes, you can read the playfulness and the happiness characteristics to toddlers of her age.
However, seeing it move, we can also detect that the boy has more difficulty moving.
“I have two other children, so I know mainly the development connected to each stage of life. When I saw that Matéo was unable to lift the head when he was on the tummy, my spouse and I started to ask us questions, ” explained in an interview Stéphanie Hébert, who has the good fortune to take care of the little guy.
The muscular dystrophy is a degenerative disease severe which affects, according to statistics, a child on 4700 births.
Matéo, Child-Sun of the Montérégie region, is one of those children who have passed from statistics to reality before the age of one year.
Absence of a protein
This disease is characterized by the absence of dystrophin, a protein essential for allowing the muscles to resist the effort.
Without it, the muscles deteriorate and degenerate over time.
“The research is evolving quickly, and this gives us great hope,” added Stephanie, who has no regret in the face of this “adventure” that life has placed in his path.
“We love it so much ! This is our little ray of sunshine to us. And if it is changing slowly, it is changing constantly… It never cries, it shares a lot of things with my other two children, it is resilient, it means a lot and it is extremely awake “, she added proudly.