12 Sep 2013

Telethon 2013: 5 families, 5 stories, 5 fights against rare disease

Illustration for article: Telethon 2013: 5 families, 5 stories, 5 fights against rare disease
Five families, all affected by rare diseases, will be the ambassadors of thousands, all gathered around the message: “The Fight of Parents, The Life of Children.”

On December 6th and 7th, together with Patrick Bruel, the official ambassador of Telethon 2013, five families will represent the fight of the AFM-Telethon. Sandrine, Luke, Vanessa, Emmanuelle and Geraldine and their children live throughout France. Despite different family situations and histories, they all have one thing in common: the fight against the rare disease that affects their child.

Sandrine is a single mother raising her two girls, ages 6 and 4. The eldest, Emma, was diagnosed with laminopathy. Sandrine can count on Annie, her daughters’ paternal grandmother. “We each have our own way of managing the disease, Annie, my mum and myself. But I can always count on them.”

Luke and Vanessa have been fighting for three years against spinal muscular atrophy, which paralyses the life of their son Thibault, age 5. “Thibault is a joyful little boy, happy to live, in constant intellectual movement. That motivates us every minute. We don’t question whether this situation is difficult to live. We’re all a bit affected by the disease and try to fight together.”

Vanessa is the mother of Lucas, 6 years old and suffering from Emery- Dreifuss muscular dystrophy. In his family, he is not alone in fighting the disease. Seven other members are affected. “Sometimes Lucas is full of life, there are days when we forget the disease. Then there are days when he’s in a lot of pain. When I see him happy and fighting, it makes me want to fight against the disease. Research gives me a lot of hope. We are fighting, we will continue to fight, and I think that we will succeed."

Emmanuelle is the mother of Gwenaël, 14 years old and suffering from mitochondrial myopathy. This myopathy affects the energy-producing structures found in all cells of the body. Her vital forces are quickly depleted, forcing her to rest for long periods to preserve her 12 to 15 hours of weekly activity. “My hope is Gwenaël ... She has such strength. It’s very ironic because even though she has no energy due to her illness, she has tremendous psychological energy.”

Geraldine is a determined mother. Unable to have children, she and her husband decided to go to Thailand to adopt their little boy: Lee, 8 years old. On their return, thalassemia, which was declared as minor in Thailand, proved to be major.  One evening in September 2010, Geraldine’s life changed dramatically again: “A report highlighted a world premiere where a young boy, also from Thailand and also suffering from thalassemia major, had regained a normal life thanks to gene therapy. That evening, my life changed. For me, gene therapy will cure my son, I am convinced.”

Learn more

Over the coming weeks, continue to become acquainted with these parents, these children who have said NO to fatality and are determined to fight the disease.

Find them every week on these pages through reports, stories and anecdotes on the AFM-Telethon French web site.