His little scoundrel face, his intrepidity and his joie de vivre are about to burst into your living rooms. Paul, originally from Dinard, (35), will be, this Friday and Saturday, one of the ambassadors of the Telethon 2024 and the 30 hours of France Télévisions event marathon. The little boy, aged 4, hopes to be present on the set, far from the hospital room in which he has spent the last few days. The fault lies with this rare genetic disease, dystrophic epidermolysis bullosa (25 new cases per year in France), which, since he was born, has ruined his existence and prevented him from running fast, cycling, playing football. …like his friends do.
Paul is a “butterfly child”. The term is poetic but the reality is much less so. “Her skin is as fragile as the wings of a butterfly,” translates Marie Épinette, her mother. His body does not produce the collagen necessary for the different layers (hypodermis, dermis and epidermis) to adhere to each other. Bubbles form on his skin and on his organs. At the slightest friction, fall or trauma, they cause skin tears and oozing wounds whose healing is particularly long and painful. “The pain he feels is excruciating, equivalent to that of a severe burn victim. »
Skin and mucous membrane lesions
The first signs – bubbles on the fingers, separation of the lips – appeared from birth. “Paul refused feedings. He was infused and, as the catheter did not hold, transferred to intensive care at Rennes University Hospital,” Marie rewinds. Doctors first suspect herpes or staphylococcus. “The hypothesis of epidermolysis bullosa (EB), vaguely mentioned in the face of the failure of antibiotic treatments, seemed improbable to them, given the extreme rarity of this disease, currently incurable. »
A month and a half of “emotional yo-yo” later, the diagnosis falls, however, irrevocably. Paul suffers from the most severe form of EB, a progressive form where each new symptom is added to the previous ones. “There are those that we see, such as patches of skin torn off, fingers that retract and toes that fuse, and those – the most serious – that we do not see: mucosal separations of the digestive tract, ulcerations, joint damage, severe constipation, stenosis (narrowing) of the esophagus…”
Daily care
For Paul, who attends a middle school nursery school, each day begins with breakfast, often experienced as an ordeal, due to a chronic inflammatory syndrome which acts as an appetite suppressant. This is followed by 30 minutes to an hour of treatment to “pierce and empty the bubbles that appeared during the night, disinfect the wounds, bandage the raw areas”. Back from school, we have to do that again. Soaking in antiseptic baths, taking anti-itch treatments, eating carefully… A routine to which the little boy, “full of life, talkative, always happy”, complies without flinching, despite his suffering and the bandages that cover his hands, feet, back and torso – some continuously since he was born. “All it takes is the friction of the sheet, or scratching while sleeping, for there to be a recurrence. »
There is no question, however, of depriving him of the pleasures of his age. “At the beach and at the park, our son is careful enough to avoid getting hurt. » Vacation? “We sometimes leave – never warm because of the risk of secondary infection – but that requires crazy logistics,” sighs Marie.
“We cling to the hope that a treatment will be found”
Horse riding, for Marie – “one hour a week with her friends” – and jogging, for Hugo, are the only leisure activities that the couple allows themselves. “A valve,” breathes Marie, happy to have resumed her work at the sea baths of Saint-Malo (35).
Paul was to meet Mika, sponsor of the 38th edition of the Telethon, on October 8, in Paris. But that day he had surgery on his esophagus. “We intend to make up for it and be present on set, Friday evening, to raise awareness of epidermolysis bullosa and generate donations for research. So that one day, a treatment will be found and Paul will benefit from it. We cling to this hope,” say Marie and Hugo, “carried by Paul, his joy of living and his fighting character.” Despite his fragility as a “butterfly child”.
Telethon: spotlight on Quimper
Quimper is one of the ambassador cities for this 38th Telethon. Friday November 29 and Saturday November 30, France TV cameras will be focused on the capital of Cornouaille and its Place Saint-Corentin. On the program, in particular: an XXL gathering of bagadavoine, a pancake marathon (10,000 to concoct in 30 hours), a flash mob challenge, and the organization of the longest gavotte. In total, no less than 1,360 events were organized and 16,613 volunteers mobilized, in 888 Breton municipalities, for the benefit of research against myopathies and rare genetic diseases. The results of the 2023 collection in the region amounted to 6,258,108 euros, a record to be beaten this year, by participating in hikes, sports initiations, meals, raffles, solidarity frescoes… of the Telethon, or by making a donation to 3637 or on telethon.fr
