TESTIMONY. “My illness is Duchenne muscular dystrophy”, at 13, Tom dreams of traveling in his wheelchair

On November 29 and 30, 2024, the Telethon returns for its 38th edition. Each year, this charitable event supports the fight of families and researchers against these rare diseases. In Dordogne, this is the case for Tom. At 10 years old, the young boy suffered from Duchenne muscular dystrophy.

She came into Tom and his parents’ lives seven years ago. “My illness is Duchenne muscular dystrophy,” Tom says soberly. This progressive disease was detected in him at the age of three. Today, at 13 years old, the young boy can no longer walk normally without the help of a chair.

Since then, the whole family has had to adapt to the disability, particularly in their house which they designed entirely based on his pathology. “We had a two-story house that we soldexplains Jennifer Bernon, Tom’s mother. QWhen we made the plans, we redid them several times to try to think of everything.” This is particularly the case for doors or the kitchen, designed “wide so that he can cook and we can pass through, too, despite his imposing armchair”.

Adaptations not always anticipated in the different spheres of society. One of Tom’s dreams is to travel. He would like to see Rome and Italy, London, Paris… Dreams that are much more complex to realize when you move around in an armchair. “We always try to anticipate, but it’s true that as long as we don’t know the places, we never know if he will be able to pass“, explains Jennifer, her mother.

In its efforts, for ten years, the Bernon family has been able to count on the help of The AFM-Téléthon, the association of activists, patients and parents of patients in the fight against these neuromuscular diseases. The structure was born in February 1958, from parents who could not resign themselves to admitting the incurable nature of these myopathies. The founder and first president of the association, Yolaine de Kepper, was the mother of seven children, four of whom suffered from the same Duchenne muscular dystrophy that affects Tom.

In 1987, Bernard Barataud, then president of the AFM, and Pierre Birambeau, director of development, both fathers of boys, also suffering from Duchenne muscular dystrophy, had an idea that would change everything: the Telethon. The idea will allow an unprecedented popular mobilization to fight the disease on the genetic and medical, but also social, grounds.

An endless path of the cross fortunately punctuated with victories. Since 1969, myopathies are 100% covered by Social Security. Three years later, the AFM introduced the first electric wheelchairs in France and fought for their support.

In the 1980s, the association brought together researchers, patients and doctors and created its first scientific council. In 1986, the discovery was announced of the gene responsible for Duchenne muscular dystrophy.

Genetics seems the most promising way to combat myopathy and the Telethon will encourage extremely expensive research. Its success allows a forced advance and the birth of Généthon, a pioneering laboratory in genetics and gene therapy for rare diseases.

In the 1990s, the AFM was the driving force in this adventure of gene therapy, a unique weapon against diseases deemed incurable. It will support the first international success of this new science, in 2000, with the successful treatment of “bubble children” by a French team. A precursor success of a true medical breakthrough which has continued to push its limits ever since.

Alongside these medical successes, the AFM-Téléthon continues to support patients and their loved ones. It connects families, provides information on illnesses and the latest advances in treatments, current trials, finds competent professionals, locations and available help.

Today, to fight in their own way, Tom’s family is preparing bracelets and earrings that they will soon sell at the Christmas market. The idea is to raise funds with their association.Muscles for Tom“. They would like to collect 20,000 euros which will allow the purchase of an all-terrain wheelchair. At the same time, they will closely follow the 2024 edition of the Telethon, these November 29 and 30. A source of hope for them as for the 2,500 other French people who suffer from this rare disease.