Rett syndrome is a devastating neurological disorder caused by a single faulty gene that affects mainly girls. The gene spontaneously mutates at the point when a child is conceived. Around 1 in 12,000 girls are affected.
The genetic mutation isn’t usually inherited: it occurs at random, and can affect any family at any time. Baby girls are born apparently healthy, and usually seem to develop normally for the first year or two of their lives – then they start to lose the skills they have learned, such as walking, talking and using their hands.
For girls like Amy, who is seven years old, everything is a struggle. Sitting up, eating, even breathing normally are all hard for her. She has to deal with a long list of medical complications, including heart problems, a curved spine and frightening seizures.
Unless an effective treatment is found, Amy will always need round-the-clock care and will be reliant on the people around her for everything. But there is hope. Well-founded hope, based on some extraordinary scientific evidence. In 2007, researchers discovered that the symptoms of Rett syndrome could be reversed in mice – and that the mice could be restored to normal. Since then, dedicated scientists have been pursuing every possible avenue to find a way of reversing Rett not just in mice but in girls like Amy. They believe that Rett syndrome could be the world's first reversible brain disorder.
Reverse Rett is a tiny charity that is ‘focused on science, founded on love’. All the money raised goes directly to the scientists who have made unlocking girls with Rett syndrome their life’s work. Please help us get there.