Rett syndrome is a rare disease of genetic origin that develops in very young children, mainly in girls, and causes a mental handicap and severe motor impairment. It is the first cause of multiple disabilities in girls in France where 50 new people are affected each year.
Currently, there is no suitable treatment.
Since the discovery in 1999 of the MECP2 gene, responsible for Rett syndrome, research on this disease has progressed considerably. Many teams are currently working on research projects in France and abroad.
Appropriate care is the key element in the evolution of the disease and its pervasive symptoms.
The improvement of this management requires information.
The French Rett Syndrome Association
Created in 1988, the AFSR is recognized as a public utility and has the following goals:
- To provide information, mutual aid and moral support to families who have a person with Rett syndrome in their care;
- To raise awareness of the disease and its therapies;
- To promote and encourage medical research on Rett syndrome;
- To act for the recognition of the multi-handicapped person within the community.
Its actions are articulated around these four missions and are concretized by actions such as:
- Financing of research projects;
- Organization of regional meetings;
- Organization of National Rett Syndrome Days, a place for exchange between families and professionals, as well as a Family Stay, a weekend of respite and exchange between families, and training courses for parents;
- Publication of an annual information magazine: the Rett Info, as well as the reference book published in 2016: «Rett syndrome, a rare disease of genetic origin»;
- Animation of 3 discussion groups on the internet reserved for families: parents, siblings and bereaved families;
- Loan of an eye-operated computer;
- Financial support for funerals and the purchase of adapted equipment;
- Telephone hotline: a place to listen to.