The Story of our Association

Cecile was born in October 1990. For the first two years of her life, there was not anything at all indicating that she was suffering from a rare genetic condition. However her dad, Jean-Louis, thought her skin was not quite right, too soft, too lax, as if somehow it was too big for her body. So, Jean-Louis and I decided to consult a dermatologist (skin specialist).

Fortunately for us, we knocked on the right door at the Hopital Saint-Louis in Paris. There Doctor Mrs Blanchet-Bardon did not hesitate for a second, her diagnosis : Cecile suffers from a rare genetic disorder, Cutis Laxa. Once we’d covered all the medical issues, we asked if we could meet other sufferers.

Unfortunately, at that time, Cecile was the only case Dr Blanchet-Bardon had come across and there was no association concerned with this condition. We faced the unknown alone, unable to share with anybody all the upheavals this disease brought into our lives. What of our daughter’s future? What difficulties would we have to confront? No one who could help us outside of the medical circles. These were tough years, during which we had to learn to live with the gaze of others and teach Cecile to be strong in front of this gaze. All our attempts at getting in touch with other sufferers through various organisations were in vain. However, within hope was still alive that may, some day …

10 years have now gone by since Cecile’s birth. The TELETHON*, which we watched loyally from its beginning, set up its cameras on the Ile de Re where we live. It was an opportunity for us, and especially for Cecile, to participate more fully, more concretely than in the past. She took part in two documentaries where her dynamism and love of life exploded on the screen. Cecile’s proven motivation pushed us to start looking again for other sufferers. We had not long bought a PC and thanks to the internet I finally found two cases of Cutis Laxa (1 in the USA, the other in Japan) mentioned on a US site for family contacts( MUMS : http://www.netnet.net/mums). I could not believe my eyes. Finally, we were not alone anymore. Stimulated by this discovery, I visited other sites and found another case in Northern Ireland (Contact a family : http://www.cafamily.org.uk).