What is Rett Syndrome?
Rett Syndrome is the most physically disabling of disorders affecting little girls almost exclusively. Every day 20 girls are born with Rett Syndrome.
The disease was first described 45 years ago. Eleven years ago (1999), mutations in a gene called MECP2 (methyl-CpG-binding protein 2) were identified as the cause of Rett Syndrome. Only 8 years after identification of its genetic nature, scientists have proved that symptoms can be fully reversed even in adult experimental animals. The MeCP2 gene regulates the activity of a host of other genes crucial to normal development of the brain.
Most girls live into adulthood. They spend life in silence, unable to speak but alert and aware. Strong eye gaze is their most important means of communicating with the world. Strategies and devices that can allow girls with Rett syndrome to meet their most fundamental human need - to communicate - are available but much underutilized.
The prevalence of Rett Syndrome is equal to that of Cystic Fibrosis, Huntingtons and ALS.