Alexandre is the proud father of Suzanne, 13, and Léon, 9 and a half. Two first names that inspired the name of the association he created in 2021: Léozan (1). Nothing predestined this 40-year-old from Nice to invest in the field of disability. Until that day when, following knocking on all the doors, worried to see his son manifesting motor disorders (read further), he will be confirmed by a neuropediatrician that Léon has a neurological disease of genetic origin. But it will take another three years before this (rare) disease is named: giant axon neuropathy. A long, very long time devoted to the search for the genetic mutations at the origin of the singularities presented by the bubbly boy.
frizzy hair
The first of them might lend to smile if it did not sign this severe disease: frizzy and blond hair. But that’s not what will alert Leon’s parents. After a completely “normal” development, the little boy begins to show difficulty in walking. “He often fell, mightn’t run…”, says Alexander. A very anxiety-provoking situation for Léon’s parents, who are wondering regarding the cause of his motor disorders. “We looked for everything, explored everything… It was finally an ENT surgeon who, following having ruled out an inner ear problem, directed us to the Lenval neurology department.” The diagnosis will be definitively made in 2021 in Marseille by Pr Brigitte Chabrol: “giant axon neuropathy (NAG)”. Alexandre, perfectly informed regarding his son’s illness, explains: “The neurodegenerative disease that affects Léon is characterized by progressive damage to the peripheral nerves, hence motor disability. In the most severe forms, there may also be damage to the central nervous system, and the short-term vital prognosis is then very dark.”
Léon, who follows a completely normal schooling, seems to present a moderate form, a real relief for his family, even if the future remains full of uncertainties. “But I refuse to torment myself by trying to find out how his illness will evolve, that would only contribute to feeding my anxiety. There, that’s fine, and I don’t want to go any further”opposes Alexandre to our questions on what we know regarding the NAG.
“He is the one who instills optimism in us”
Photo DR.
His concern is first of all his son’s daily life, punctuated by physiotherapy treatments which allow Léon to move around with his splints. The little boy with the devastating smile had to be operated on several times, and he is subjected to substantial treatment: “We must regularly apply corrective plasters to his feet, to counter the deformations caused by the muscular retractions generated by the partial paralysis of his legs.”
Familiar with hospitals, and more particularly with the Lenval hospital in Nice, where he has been followed for several years, Léon is a real ray of sunshine for the caregivers with whom he has woven habits. It is also for his loved ones, always happy despite the constraints imposed by the disease. “Oh it’s okay, she doesn’t stop me from living!”he exclaimed once more recently, faced with the concerns he perceived among those close to him. “He is the one who instills optimism in us, smiled Alexander. And, also, all these seriously ill children that we meet during Leon’s hospital stays.
On the drug trail
But what also gives this family the strength to move forward is the hope of a cure. “Only two research teams in the world are working on Léon’s rare and still incurable disease. One of the laboratories is located in Lyon, it’s a real miracle!”
Father and son went to meet Dr. Bomont, who runs it. And so they learned that the disease, because of its rarity – “only a few dozen children are affected in France, barely hundreds worldwide” –was largely unknown, even to the medical profession. “It is therefore likely that it is underdiagnosed. Many labeled genetic diseases “unknown gene” might be NAGs. »
If Alexandre took up his pilgrim’s staff to make his son’s disease better known, it is because the stakes are high, for Léon and all the other affected children. “The proof of the effectiveness of a combination of drugs already on the market on NAGs has been demonstrated in animals. To take the next step: the launch of a clinical trial, it must be possible to include a certain number of patients.”
With improved screening, this number might increase, authorizing clinical trials, the only hope today of interrupting the inexorable progression of the disease. Léon, even if he is suffering from a moderate form, has the sad experience of it. Because he has less strength in his hands, he had to give up his guitar, and he can hardly write anymore. But he continues to smile.
