Imagine the symptoms of autism, cerebral palsy, Parkinson’s disease, epilepsy, and anxiety disorder … all in one little child.
Rett syndrome is a serious, lifelong neurological disorder that is caused by random mutations in a gene called MECP2. Diagnosed primarily in girls, symptoms typically appear in toddlerhood. Many children with Rett are unable to speak, walk, or use their hands. Breathing problems, feeding tubes, seizures, anxiety, and gastrointestinal and orthopedic issues are common.
Despite the debilitating nature of the disorder our children are so much more than a laundry list of symptoms. Their beauty and their strength inspire and motivate us.
Rett syndrome stands apart from other neurological disorders due to the dramatic reversibility of symptoms in animal models. Our confidence that Rett syndrome is curable guides our every decision.
Although rare, boys can also have Rett syndrome. Please visit our Genetics Primer to learn more. With the exception of the MECP2 Reactivation strategy all the research that RSRT supports is also applicable to boys.
Mutations in a gene called MECP2 (methyl-CpG-binding protein 2) were identified as the cause of Rett syndrome in 1999, in the laboratory of Huda Zoghbi, MD, at Baylor College of Medicine. First discovered by Adrian Bird, PhD, in 1990, MECP2 produces a protein, also called MECP2, which regulates the activity of other genes. In most cases, the damaged copy of MECP2 can be traced to a random mutation in sperm. The incidence of recurrence in a family is less than 1%.
Although Rett syndrome remains a clinical diagnosis based on the child’s symptoms and history, the identification of MECP2 has made DNA testing and confirmation possible for affected individuals and their families. To date, approximately 95% of girls with a clinical diagnosis of Rett have a confirmed MECP2 mutation.
Explore the list of clinics in the US and internationally that have expertise in Rett Syndrome.
Clinical trials and studies are important aspects of developing treatments for diseases. Please visit the clinicaltrials.gov website to learn more
Next time you find yourself answering questions about your child and Rett syndrome with people you meet at a restaurant, school function or standing in line at the grocery store, whip out a personalized Rett Fact Card.