“Discovering Koolen de Vries Syndrome: A Rare and Little Known Genetic Disorder Bringing Families Together in Parent, Puy-de-Dôme”

About twenty families met for a weekend, May 6 in Parent in the Puy-de-Dôme. Their common point is to have a child or a member of their family affected by Koolen de Vries syndrome, a rare and very little known genetic disease.

For two days, Lison, a little girl suffering from the syndrome of Kool deVries was able to do many activities, in Parent in the Puy-de-Dôme. All this in a relaxed and above all benevolent atmosphere. A happiness for Karine, her mother: “Lison has the chance to discover lots of new friends and girlfriends! » Lison adds: “I have a new girlfriend, Agathe”. Lison and most of his classmates have Koolen de Vries syndrome. This is the first time that she and her parents have found themselves with other families affected by this disability, as Olivier, the little girl’s dad, explains: “We always ask ourselves the question, when we have a disabled child, of knowing what his future will be, whether there will be possible autonomy or not. We realize that yes because there are people in their thirties who have the same handicap as our daughter and who are very fulfilled. We are really reassured, it makes us feel good. »

Koolen de Vries syndrome is a rare genetic disorder. It is caused by the absence of a tiny fragment on a chromosome, which leads to the lack of a small amount of genetic material, then causing several symptoms, indicates Sébastien Détourné, president of the association Koolen de Vries France: “Intellectual deficiency will lead to delays in learning, in language, various and varied delays… Behavioral disorders can be observed. It will inevitably have an impact on walking, on the sitting position, on the stature, on the word because it uses the muscles… ”

It took until 2006 to identify the syndrome and research continues, according to Julien Thévenon, professor of medical genetics in Grenoble: “The objective of our coming is to accompany them and that they accompany us. In general, in rare diseases, it is as difficult for families as it is for doctors to have experience with several cases and therefore to have useful information to give to families. »A national protocol must be put in place to help the medical profession and families to take care of children affected by this syndrome.