2024-11-08 14:20:00
November 29 and 30 will take place on Telethon 2024. An event created in the 80s which continues and allows helping families to come together. This year, the ambassador of the event is Paul Crolarda little Dinardais aged 4 years. In a report published by the AFM Téléthon, his mother, Marie, testifies (source 1).
A rare genetic disease
Since birth, Paul has suffered from epidermolysis bullosaa rare genetic disease for which there is no treatment yet. “It’s such a rare disease that it’s definitely not going to be that,” Marie explains in the report.
According to the High Authority of Health (HAS), epidermolysis bullosa is characterized “by localized or generalized fragility of the skin and/or mucous membranes” (source 2). A disease that develops in newborn or the child but rarely in adults. If the severity varies from one child to another, “ranging from moderate localized forms to generalized formssevere potentially lethal and particularly disabling”, Paul Crolard has a “severe” form, confides his mother.
Skin as fragile as that of a butterfly
“He’s a butterfly child, because his skin is as fragile as a butterfly’s wings,” she says. At the slightest friction, shock or blow, the skin peels off and forms blisters. “The skin tears off and healing can take months,” she says.
“Paul is rather cautious. He’s careful. He knows that if he falls, he will get hurt,” she adds. “Every day, we monitor our skin. We do dressings morning and evening », Explains his mother.
A daily life punctuated by care
“When Paul was a baby, nurses came every day to do the dressings. There are appointments and medical exams. Operations too. That’s a lot of information. It’s a tsunami. Our whole life was turned upside down,” explains Marie. “I had to stop working for two and a half years,” she adds.
On a daily basis, Paul has difficulty living. Eating, walking or even playing like a child of your age can be complicated. In fact, this disease attacks all mucous membranes. Therefore, it can damage the esophagus (esophageal stenosis) and therefore diet. What are the symptoms and other possible complications?
What are the symptoms and complications?
According to the MSD Manual website, “all types of epidermolysis bullosa manifest as painful bubbles et inappropriate. The severity of symptoms correlates with the severity of the blisters and scars and ranges from mild to severe” (source 3). Although there are many forms of epidermolysis bullosa, the first symptoms are often similar. These are bubbles or skin peelings (also called aplasias). Complications therefore vary depending on the types and forms the disease takes. Possible complications are:
skin superinfections linked to blisters on the skin; acute dyspnea may indicate laryngeal damage and requires emergency hospitalization; acute dysphagia;stenosisesophageal ;frequent constipation;pain intense in the bubbles eyepieces ;
No treatment possible
“Genetic analysis is not essential for initial diagnosis, but a collection of genetic material (DNA) for conservation purposes is essentialto specify the shapegenetic counseling and prenatal diagnosis in particular,” explains the High Authority of Health (HAS). There is no treatment. In the hope of future treatment, today, treatment consists of:
To accompany at best patients and their families in daily skin care;Prevent, screen et to treat complications as soon as possible;Empower the patient and their family with programstherapeutic education;Allow patients toaccess possible innovative therapies.
Sources
Source 1: “The story of Paul, ambassador of Telethon 2024, suffering from epidermolysis bullosa”, November 7, 20124, AFM Telethon.
Source 2: “Hereditary epidermolysis bullosa”, November 4, 2021, High Health Authority (HAS).
Source 3: “Symptomatology of epidermolysis bullosa”, The MSD Manual.
1731142407
#Butterfly #disease #Paul #Telethon #ambassador #suffering
**Interview with Marie Crolard, Mother of Paul Crolard – Telethon 2024 Ambassador**
**Interviewer:** Thank you for joining us today, Marie. As Paul’s mother and this year’s ambassador for the Telethon, could you share a little about his condition and what it means for your family?
**Marie Crolard:** Thank you for having me. Paul suffers from epidermolysis bullosa, a rare genetic disease characterized by extreme fragility of his skin, which is often referred to as having skin as delicate as a butterfly’s wings. His condition means that even the slightest touch can cause blisters and severe pain, and it requires constant care.
**Interviewer:** That sounds incredibly challenging. Can you tell us about a typical day for Paul and your family?
**Marie Crolard:** Our daily life is heavily punctuated by medical care. We do dressings on his skin every morning and evening, and when he was a baby, nurses came to help us with this every day. Paul has difficulty with everyday activities like eating and playing, and it can be tough for him. This has changed the way we live; I had to stop working for two and a half years to take care of him.
**Interviewer:** How does this condition impact Paul’s ability to play and socialize with other children?
**Marie Crolard:** Paul is very cautious because he knows he could get hurt easily. This affects his interactions with other children; he can’t play as freely as kids his age. It breaks my heart to see him hold back from playing fully due to fear of injury.
**Interviewer:** It’s remarkable that you are channeling this experience into raising awareness for the Telethon. How can the public help?
**Marie Crolard:** Participating in the Telethon is a great way to help. Donations go to research for rare diseases like epidermolysis bullosa, which still lacks a treatment. Supporting families and funding research can make a difference.
**Interviewer:** What message do you hope to convey through the Telethon this year?
**Marie Crolard:** I want to raise awareness about rare diseases and the challenges families face. It’s vital for people to understand what children like Paul go through and to support research that could one day lead to treatments.
**Interviewer:** Thank you, Marie, for sharing your story with us. We wish you and Paul the best for the upcoming Telethon.
**Marie Crolard:** Thank you so much for giving us a voice. Every bit of support counts!
