If your daughter was just diagnosed you undoubtedly are feeling a myriad of emotions and have a million questions: What does the future hold for my child and for my family? Will I ever be happy again (yes, you will!)? Should I have other children? Should I take my child to a Rett clinic? We can help. Please follow these steps:
Register with RSRT
We want to help so please register. You’ll receive information that will help you cope with the diagnosis and keep you updated on everything Rett. Once registered we’ll contact you to see whether you’d like to be connected with our network of affected families who can offer support and advice.
Monica, RSRT’s founder and Executive Director, has been working closely with the scientific community since 1999. She is also the mother of a young woman with Rett. She can probably answer any question you might have. Feel free to contact her and set up a time to speak.
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 has 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.
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.