Hyacinthe and his family are Telethon ambassadors in 2020. This two-year-old boy suffers from type 1 spinal muscular atrophy, a degenerative disease that prevents muscles from functioning. We met him and his parents in Dijon.
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A small voice that carries well. Small hands agile enough to chip in the dish. All these gestures were not won for Hyacinthe. The two-year-old boy has type 1 spinal muscular atrophy.
“It’s a neuromuscular disease that causes his muscles to atrophy, says his father, Cédric. The messenger between the brain and the muscle is missing. Children with this severe form of the disease will see their muscles grow stronger until death. Children normally do not exceed the age of two. “
At the start of 2019, Hyacinthe was 7 months old. The diagnosis falls: it does not produce a protein necessary for the functioning of the muscles. There is an extremely restrictive treatment, an injection of this protein every four months for life.
Another option is still in the study stage: gene therapy, developed in particular with funds from the Telethon. “We are going to inject a virus, which is deactivated from its notion of virus, but it has properties. So it is able to enter the heart of cells and go and deposit the missing gene. It is a synthetic gene which will replace the one that the child does not have so that afterwards the child is able to produce his protein on his own “, details the mother, Mathilde.
duration of the video: 01 min 59
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Telethon: hope for Hyacinthe
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An injection for life
An hour-long injection that should be enough for a lifetime, even if science lacks the hindsight to be categorical about it. In June 2019, Hyacinthe is therefore one of the first children, outside the trial, to benefit from this treatment. He was then 10 months old and his illness was already well established.
“The motor neurons, the cells which are used to make the movement die. And we cannot revive them. What we hope when we do this treatment is that the child still has motor neurons, adds his mother. We are lucky, he moves all over the place. After that, he may not have enough to make full movements. “
His legs seem particularly affected even if he regains mobility, just over a year after the injection.
“The idea is that he should live a life as a boy as normal as possible. He will have an armchair, chances are. We are already thinking about Hyacinthe’s future. It is true that the future, c ‘is the school “, confides his father.
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