Doctissimo, partner of the Telethon 2023

For the 2023 Telethon, the families of Ibrahima, 2 and a half years old, Kelly, 15 years old, Léon, 10 years old and Ivy, 4 years old, will be the ambassadors of this fight, of the victories but also of the many challenges that remain to be faced. identify and address which your donations are essential.

Research against rare diseases benefits each of us!

To fight against rare diseases, researchers have had to imagine, design and develop new therapeutic avenues which, after 30 years of cutting-edge research, are proving effective not only for these diseases but also for more common diseases.

“These innovative therapies – gene therapy and cell therapy in particular – are now being tested in common diseases such as neurodegenerative diseases (Parkinson’s), vision diseases (AMD), heart diseases (Myocardial infarction). CAR-T cells, a form of cancer immunotherapy, use technology originally developed to treat immune deficiencies” specifies Professor Serge Braun, scientific director of the AFM-Téléthon.

Today, nearly 30 gene therapy drugs are available, including some to treat cancer, the pancreas and even cardiovascular diseases! Donating to the Telethon means supporting research that can benefit each of us.

Telethon 2023: Thanks to you, the Telethon can change everything!

This year again, the AFM-Téléthon highlights its action through four faces, four stories for the same fight.

Thanks to you, I walk!

Nothing differentiates him from children his age and yet Ibrahima, aged 2 and a half, suffers from the most severe form of spinal muscular atrophy, a rare disease which affects motor neurons, prevents muscles from functioning and kills children. often before the age of 2. This disease having already struck his mother’s family, Ibrahima was able to be diagnosed in utero.

His destiny changed when, 6 weeks after birth, he benefited from a gene therapy drug, resulting from pioneering research carried out at Généthon: while the natural evolution of the disease would have deprived him of the strength to live, Ibrahima grows normally and walks from 11 months! Today, he runs, jumps (including during the Telethon press conference ;)), dances, scooters, plays football… “We were incredibly lucky to benefit from this treatment very early because it prevented the disease from appearing.” shares Flavia, her mother. More than 3,000 babies around the world have benefited from this medicine.

The challenge is therefore to detect and treat children suffering from this disease as early as possible. This is why the AFM-Téléthon financed and launched a neonatal genetic screening experiment in voluntary maternity hospitals in the Grand Est and Nouvelle Aquitaine regions. This Depisma program must demonstrate the feasibility of screening and the effectiveness of treatment before symptoms appear. 5 babies have been treated since the start of the year following this early screening.

15-year-old Kelly’s dream is to have a sleepover but for the moment, her rare liver disease requires her to spend more than 9 hours a night under 390 blue LEDs to survive. Crigler-Najjar disease is caused by a toxic accumulation of bilirubin, a substance not eliminated by the liver due to a genetic dysfunction. This accumulation can lead to significant neurological damage or even death. Only daily phototherapy can reduce bilirubin levels, but it has a considerable impact on the quality of daily life. “The blue LEDs are essential. If I don’t have them, it’s death. There is always a time to go to bed, so that I spend the necessary time, at least 9 hours, under the phototherapy lamps“.

But today, we know how to beat Kelly’s disease. A Généthon team has designed a gene therapy drug candidate tested in a European clinical trial. According to results recently published in The New England Journal of Medicine, this medication made it possible to lower the bilirubin level of 3 treated patients, enough to stop phototherapy for at least 18 months! “A week after the injection, my complexion became rosy again, I was no longer yellow and my bilirubin level started to drop (…)… I can now go out with my friends, I no longer have to tell myself that I have to go home quickly to do my 8 hours of lamps, I no longer have this sword of Damocles above my head” says Stefania, treated in June 2021.

If I become stronger than my illness, it will be thanks to you!

For Léon, 10 years old, suffering from giant axon neuropathy, a very rare genetic disease that affects the nerves and muscles, time is running out. This disease gradually deprives children of their movements before reaching the central nervous system. “The announcement of the diagnosis was a shock. We had no answers and for us it was not possible. We searched and we know that Pascale Bomont’s team, in Lyon, is working on Léon’s illness, that’s why we continue the fight, more determined than ever” declares Emilie, Léon’s mother. “The problem is that you can’t do like everyone else. I have a little trouble standing up, I often fall. There are a lot of sports that I haven’t been able to do for several years with my friends. I hope that researchers will find a medicine and that it will work” confides Léon.

“We have enormous hope in research. But the hardest part is not knowing where we are going. Léon taught me to live in the present moment” declares Alexandre, Léon’s dad.

Thanks to you, we resist and fight for our daughter Ivy

Ivy, 4 years old, suffers from a rare disease that has not yet been identified. She breathes thanks to a machine to which she is connected 24 hours a day. She wears a corset and splints on her feet. But Tony and Margaux, his parents, still do not know the precise name of his illness. A myopathy, yes, but which one? Their fight: having a diagnosis. To know what we are fighting against. To be able to benefit from the best possible medical care and pave the way for research and possibly treatments.

“Today, we unfortunately see the disease evolving. The hardest part is not not knowing what the illness is but rather not being able to plan ahead. (…) Our daily life revolves around our daughter. We keep smiling and want to give her the best life she can have!” testifies Tony, his dad.

For 95% of rare diseases, treatments remain to be found

The destiny of thousands of families has already changed thanks to advances in research. But 95% of rare diseases remain untreated today and far too many patients are still waiting for a reliable and precise diagnosis.

The AFM-Téléthon conducts research to bring out new therapeutic avenues through 3 cutting-edge laboratories, support for the Rare Diseases Foundation of which it is the main financier, support for 38 trials in humans for 29 different diseases ( diseases of the muscle, skin, blood, brain, vision, liver, etc.) and around 200 research programs each year.

While waiting for treatments, nearly 180 professionals from the AFM-Téléthon support patients and families on a daily basis in their care journey and in their life project.