Throughout the month I will be sharing lots of information about Rett Syndrome but if you have a specific question please ask! Simply leave your question in the comments and I will be happy to answer!
Lets start with what is Rett Syndrome? (visit www.rsrt.org for more info)
Imagine the symptoms of Autism, Cerebral Palsy, Parkinson’s, Epilepsy and Anxiety Disorder… all in one little girl. This is Rett Syndrome.
Rett Syndrome is 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.
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.
Brooklyn’s mutation is R168X. More on that in a future post……