Telethon 2022: “The disease progresses quickly”, the strong testimony of Candy, mother of three children with myopathy

To help the search for these genetic diseases, families, researchers and volunteers from Occitanie present the main challenges of this new edition. With this testimony of this “combative family that will not let go”.

It is with great testimony that the organizers of the Téléthon d’Occitanie have chosen to stage this 36th edition that will take place on December 2 and 3.

The testimony of Candy who lives in Villefranche-de-Lauragais in Haute-Garonne, mother of three children, Maël, Alice and Victor, 10, 9 and 6 years old. All three are affected by a form of limb girdle muscular dystrophy characterized by progressive degeneration of the muscles of the pelvis.

“We trust researchers”

First the eldest, Maël, complained “leg pain but family doctor relegated growth related pain” of the boy: “We were always told there was no problem. But there were little signs that only mom could see”Candy explained.

Who, through self-sacrifice, ends up having a diagnosis. Terrible. That in this rare genetic disease, whose scientific name is sarcoglycanopathy. And that can also be seen in Victor and then Alice: “It’s been a year since the diagnoses came and since then, my wife and I have been working so that our children can have the same life as other children”.

It was a struggle to get the diagnosis but the aftermath was going to be even more so. “Because the disease progressed quickly. Maël could not go on school trips with his classmates or play with his friends”, he regretted. However, Candy affirms this: “When Maël found out he was sick, it freed him from a huge burden because he knew he was different. Now he is comfortable in his sneakers and, like his brothers, wears the very high colors of Telethon”. The whole family stayed in combat mode: “Happiness will be found with or without legs. We want our children to have a fighting spirit and never give up”.

“Together, we will not give up”

Jean-François Malaterre, vice-president of AFM-Téléthon, who presented the challenges of this new edition, is also the father of two boys affected by myopathies, including the eldest. “who left us at the age of 28. I understand your feelings”he assured Candy who wanted to believe in science: “As a parent, we avoid thinking about what will happen next. For that, we trust the researchers”. “And like this year’s motto: together we never give up”argues Jean-François Malaterre.

Researchers are making a lot of progress but the roots of the war remain money collected over the festive weekend: “After the years of Covid, we all want to meet again, relieves Eve Bebien, Telethon volunteer in Hérault. We are all here and there will be many good things in Occitania. It’s the return of big events, people want to come together, to get out of their homes, to raise funds for Maël, Alice and Victor, and all the others”. And for that, just one number: 36 37.

Genethon’s hope

“The Genethon is a laboratory that has paved the way for understanding and identifying the origins of genetic diseases and developing innovative drugs to treat them”. Fréderic Revah, Managing Director of Généthon, presented the AFM-Téléthon laboratory, created in 1990, 3 years after the launch of Téléthon in France. He showed the advances of the researchers, who started from an almost total lack of knowledge to manage today to treat patients with myopathy: “7,000 diseases that affect 3 million people in France and 350 million worldwide” , the director underlined. Because Généthon represents all the hopes of families and patients. In particular from Candy: “We have been working on girdle muscular dystrophy for 30 years. We have learned to identify the genes and we treated a first patient in September. We are ready to start three new clinical trials”, explains Frédéric Revah. But for that, funding has to follow…

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