What is Rett Syndrome?

What is Rett Syndrome?

Imagine the symptoms of Autism, Cerebral Palsy, Parkinson’s, Epilepsy and Anxiety Disorder… all in one little girl.

Rett Syndrome is a serious lifelong neurological disorder that is caused by random mutations in a gene called MECP2. Diagnosed almost exclusively 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, gastrointestinal and orthopedic issues are common.

Despite the debilitating nature of the disorder our girls 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 very rare, boys can also have Rett Syndrome. There are several specific genetic scenarios that can happen. Please visit our Genetics Primer to learn more. Almost all of the research that RSRT supports is as relevant to boys with Rett Syndrome as it is to girls. RSRT’s goal of treatments and a cure applies to girls and boys with the disorder.

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Educating our girls

Rett has traditionally been associated with severe cognitive impairment.  Parents who sensed their daughters understood much more than they could communicate found little support from educators and therapists. Fortunately evolving strategies in teaching and new augmentative communication technology have resulted in fresh perspectives and attitudes about what individuals with Rett can achieve academically.  These revised expectations help create a much more sophisticated and positive foundation for unlocking and nurturing the potential of our children.

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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, M.D. at Baylor College of Medicine. First discovered by Adrian Bird, Ph.D., 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%.

While 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.

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There is hope


In 2007 a science paper authored by Adrian Bird, PhD shocked the scientific community and parents alike. No one expected the symptoms of Rett to be dramatically reversible, especially in late stage disease.   This landmark discovery puts Rett Syndrome into a unique position among neurological disorders and has fueled the remarkable portfolio of therapeutic approaches currently being pursued.
Watch the video to better understand this remarkable experiment and what it means for our children.

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