“NYour child does not look like his dad or his mum, he looks like his illness…” Sad words, strong words, which echo the shock Ornella felt when she discovered the face of another child affected by the same syndrome as her little Malone. “They looked so alike…”
The little Niçois is the only child in France carrying the genetic mutation at the origin of his unnamed disease. And they would be barely a dozen referenced in the world. What Malone suffers from, his parents, Ornella and Arthur, learned only very recently. But, they perceived very early that something was wrong.
Difficulty breastfeeding
“From the first bottle, which I gave him, he turned blue and I alerted myself, testifies Ornella. He was taking breathing pauses. But as he was born a month before the term, he was underweight, I was told that it was normal, that I was too stressed…”
The infant will nevertheless be hospitalized for three weeks in neonatology. “The first examinations did not reveal any abnormality and we were left to go home.”
Unfortunately, the situation is not improving much. “He still had so much difficulty suckling; I changed pediatricians lots of times, saw several ENTs… without getting an answer.” Two months later, the infant’s troubles no longer offer an alternative: he must be rehospitalized. “He underwent a new battery of examinations: MRI, scanner… inconclusive.” Until a sleep recording is made.
“There, we realized that he was having 55 sleep apneas per hour, or one per minute! We operated on him urgently. I was not crazy, my mom’s concerns were well founded.” The evolution of the state of health of Malone will only confirm it; quickly new troubles will appear. After the apneas, it is his gaze that changes. The infant’s eyes are subject to involuntary movements (nystagmus).
“We were sent to Montpellier to carry out a complex examination, an electroretinogram. There, we began to suspect a genetic disease, but rather a visual one.” Samples are taken for analysis, but parents are warned that it will be a long wait before obtaining the results.
During the months that follow, Ornella and Arthur are reduced to noticing the delay in their child’s development, but without much means to act. “He benefited from a little physio and psychomotor rehabilitation, and that’s it.”
Intensive rehabilitation in Barcelona
At one year old, if Malone is a real concentrate of love and smiles, he does not move on all fours, and cannot even turn over when he is lying on his back.
“That’s when I asked for a genetic consultation at L’Archet hospital. It was impossible to make a diagnosis, but the geneticist nevertheless mentioned a ‘syndromic pathology’ and took samples for genetic analysis. “
Still months to wait. Ornella refuses to sit idly by. “While looking everywhere for information, I discovered the intensive rehabilitation practiced in other countries like Spain; many testimonies from families of children suffering from motor disabilities were in line with a real improvement.”
Malone was 18 months old when Ornella and Arthur decided to go to Barcelona, to an institute offering this type of care. They will stay there for two weeks. “After 3 days, he was already sitting on his own! And when we left the institute, he already had a lot more tone.”
“What will be his future?”
The price to pay for this progress: at least 3 hours of intensive physiotherapy per day, osteopathic care, acupuncture, psychomotricity… And a big financial investment. “We have to pay 1,100 euros per week, not including transport, accommodation…” A significant sum for the young couple who only benefit from Arthur’s income.
Since the birth of Malone, Ornella, who practiced her job as a hairdresser with talent and passion, had to give up working. But, they do not want to deprive their child of chances to evolve.
“In Barcelona, we were made to understand that the two half-hours per week of rehabilitation from which Malone benefited were clearly insufficient. Also, we made the choice, back in France, to organize an intensive rehabilitation in liberal , partly at our expense.”
Almost a year ago, in May 2022 – Malone was then 20 months old – the genetic analysis delivered its verdict; Malone has a genetic anomaly that causes an extremely rare disease. “What will be his future?”, modestly asks his mother.
An association to support Malone
The reference center for Malone syndrome is located in Denmark; he is currently conducting a follow-up study of children aged 0 to 13, which has not yet provided results. So, for Malone’s family, we have to keep moving forward in the dark. By doing everything possible to limit hospital stays: “The slightest virus, the slightest cold, or a simple gastrointestinal tract lead him to the hospital.”
But, beyond this fragility, what worries his parents are all his developmental disorders: delay in language, walking, visual disorders, pulmonary…
“There, we discover that he has valgus flat feet (turned outwards), still linked to his syndrome… We knew that something was wrong, but we did not imagine that it was so rare and so serious.”
For their son, their battle, Ornella and Arthur have decided to create an association. Objective: to make a little better known regarding this disease, which is so rare that it is “not even referenced on Orphanet”raise awareness of the cause of disability more broadly, obtain funding to help research and also continue to offer Malone this intensive rehabilitation in France or abroad.
Name of the association: L’Extra-HandiNaire Malone. “Because I have always found my son extraordinary…” Mom’s words. Quite simply.
1. Contact: par ici or on Instagram via the account: lextra_handinaire_malone
