Telethon 2024: they “fight to live and be happy”, these patients fight against their myopathy on a daily basis

The Telethon 2024 begins this Friday for 30 hours of live broadcasts on France Télévisions. Like every year since 1987, the French are called to make donations to 3637 or on telethon.fr. The objective this year is to exceed 93 million euros collected in 2023. Donations will help advance research to combat rare diseases. For the occasion, France Bleu gives the floor to Margaux, Victoire, Philippe, Sacha, Maël, Alice and Victor, patients suffering from myopathies who fight against their pathology every day.

Lives disrupted by illness

These myopathies disrupt the daily lives of patients like that of Philippe, whose illness broke out at the age of 26. “I often fall, I can no longer climb the stairs”explains the AFM-Téléthon volunteer and touched by Becker myopathy which is characterized by muscle atrophy. “I can get around with a cane, but unfortunately other people with the same pathology can no longer walk”he specifies on France Bleu Creuse.

In Grenoble, Margaux describes “severe attacks of pain. The 27 year old young woman suffers from limb-girdle myopathy, a rare disease that affects the muscles of the shoulders and pelvis and causes intense suffering. “I can be stuck in my bed, she describes at France Bleu Isère. Last night, for example, I couldn't sleep, at least not before 4 a.m..” Some days, it is difficult to go to work for those who have had to reorient themselves due to illness: “There are mornings that are more difficult than others, getting up to go to work in person is out of the question. Or, we choose to take a painkiller, but we are absolutely not able to take the car“, she says. Very often tired by her days, she had to reorganize her way of living. “I prefer to go out on Saturday, rather than Sunday, because the next day, I'm always exhausted“, even if she says: “It’s not the illness that dictates my life.”

Girdle muscular dystrophy also affects the three children of the Rocher family in Haute-Garonne: Maël, 12 years old, Alice, 11 years old and Victor, 8 years old. “For me, it was an abyss, the children were not going to have the life they could haveremembers Candy, the mother, from France Bleu Occitanie. We had to hit rock bottom to come to the surface, fight to face this illness and continue to live and be happy.” In Aubagne (Bouches-du-Rhône), Mathis, 5 years old, still does not walk and cannot move around alone. He was diagnosed with spinal muscular atrophy, a degeneration of the nervous system that controls muscle movements, at the age of 18 months. “All the muscles of the body are affected and are not supplied with protein (…) There is not enough protein, so it does not work“, explains his father Tristan to France Blue Provence.

In Mayenne, Élisabeth Lepéculier and her two children suffer from Charcot-Marie Tooth disease, different from the Charcot disease that the general public knows: “Charcot disease is a muscular disorder. For us, it is a neuromuscular diseasedescribes the mother at France Bleu Mayenne. It will cause pain in the hands, arms, legs and feet, which will lead to difficulty walking and enormous fatigue.” Despite the illness, “we try to live as classically as possible, assures the mother. The children go to school. Raphaël has adaptations to all courses. He participates in sports because it's important. We continue our lives”, she emphasizes. We have hard days, we go to bed very early in the evening. We have different daily lives, but we must continue to live like everyone else.”

Diseases with a progression that is difficult to predict

The evolution of rare diseases does not allow us to know what the future will hold for some patients. “Today, when we go out, we take the manual chair, or even two for the boys. They lend it to one another according to their weariness, says Candy, in Haute-Garonne. There will be the electric chair one day, we know that. When ? Under what circumstances? I don't know”she regrets, while waiting for medicine. At the Lepéculier family, evolves “quite slowly” for Raphaël and his mother. Which is not the case for Adèle, although she is much younger. At eight years old, she already “need a power assisted wheelchair. She has trouble climbing stairs, she has trouble writing.”

Diagnosed seven years ago, Grenobloise Margaux believes that her “disease is not at a very advanced stage' and is progressing slowly, according to his doctors. She remains hopeful, because an experimental gene therapy treatment could slow down her pathology. “For the moment, only a handful of people are subject to this experiment, this is not my case“, she emphasizes, although she hopes to be part of the next group of experimental patients.

But the progression of these diseases can be slowed. To improve Mathis' life, treatment was administered to him: “It helps prevent degeneration, so its condition does not evolve too quickly thanks to research, his father rejoices. The doctors are confident, but they are not getting too far ahead.” On a daily basis, his father meets “a little guy full of life”: “Every day, he is at full strength, he always wants to move forward. He has mental strength, it’s impressive (…)”. “We are in combat mode”, he says.

Young patients saved thanks to effective treatments

At Généthon, the Telethon laboratory in Évry (Essonne)researchers are trying, thanks to donations, to develop effective treatments to fight rare diseases, which affect three million people around the world. And there are important advances that give hope to patients: in 2019, the first Généthon drug against spinal muscular atrophy was put on the market. Other treatments are still being tested.

Sacha, 8 years old, one of the faces of Telethon 2024, was able to benefit from gene therapy as part of a clinical trial carried out at the Strasbourg hospital. Promised to the wheelchair because of Duchenne muscular dystrophy, fatal in 100% of cases, the medicine injected once gave him his muscles back. “Two years later, Sacha not only saw his illness stop. But in addition, he acquired motor skills that he did not have, Hélène, her mother, is still surprised, at the microphone of France Bleu Alsace. He saw himself taking his first strides, he saw himself climbing in parks, ladders. He saw himself hopping up and down the stairs for the first time.” she rejoices.

The progress of little Victoire, 4 years old, was almost immediate. Diagnosed at 18 months with spinal muscular atrophy, “Victoire has regained strength in her legs. with the right medication. “We saw her climb small heights, which she didn't do at all before“, explains Floriane who, two years later, now sees her daughter able to take a few steps and move around on her own. Floriane calls on all French people to continue to give: “We are fortunate that there is a treatment for Victoire, but there are many other genetic diseases which do not have one and for which research must continue. According to the AFM-Téléthon, 95% of rare diseases have no treatment.