December 21, 2013

About Rett

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.

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.

Scientist doing research

GENETICS 101

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.

UNDERSTANDING THE 2007 REVERSAL

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.

 

9 thoughts on “About Rett

  • Loved loved the “Daddy dance”. That was so awesome. Hope you don’t mind that I reposted on fb. My 5-yr old g’daughter has Rett. She was 3 when diagnosed. It has been a very tumultuous 5 years.
    Libby is now attending Boshears in Tyler, Tx. Today she got to ride a horse AND swim in “the spa room” (a small pool) w/a therapist. So far, we think those are her favorite “sports”. Libby can walk & is learning to communicate w/her eyes. Love our Angel.
    Wishing your Angel the best & many more healthy learning years.

    • I don’t mind at all. The more these things get out there, the more we can help girls like my daughter and your granddaughter. I get the tumult. It’s difficult for everyone involved. But there really is so much hope and that’s what we’re fighting for. Thanks for following along.

  • What is the computer that you have in one of your videos? How is she able to select what she wants to say?

    • It’s a Tobii Dynavox Eye gaze computer. There are images programmed in and when she looks at an image it triggers the voice. When she gets older she’ll be able to spell what she wants to say just by looking at the letters.

  • Hi!
    My name is Mirko, and my wife’s name is Nina. I am Italian and my wife is Russian. Our little daughter Mia Arsenia has been lately diagnosted with Rett syndrome. She is 2 years and 10 months old. We have tried to find what’s wrog with our baby since she was 1 year old. Finally we got the results of the DNA analisys. We live in Russia now, but we are moving to Italy in the next few weeks. Looking at your site and at your channel on youtube gives us hope, and shows, that we are not alone. Mia and Magnolia are really similar, they are both beautiful! I really hope that we can give our little princess all the love she need, and we’ll do everything for her to feel safe. I hope to get some of your contacts, to contact you directly, it would help a lot! We all hope we’ll fine a cure soon!
    have a nice day!
    Mirko, Nina and little Mia Arsenia

    • Thank you for reaching out. So sorry to hear about your diagnosis. There is a lot of hope that we will beat this thing. You can email me through the blog and I’ll be happy to answer any questions you have.

  • Hi, my name is Elizabeth, I am from Ecuador. My daughter was diagnosticated with Rett Syndrome. But since she was 2 years old, she lost motor and cognitive abilities, But any doctor could give me a definitive diagnosis, nevertheless the year 2016 we manage to realize a genetic examination where I confirm to him the indicated diagnosis. Now she is 7 years old and we have not seen any advance in spite of having been in constant therapies from 2 years.
    To see Maggie’s videoes they have woken up in my hope that for several times many doctors have extinguished saying that these children haven´t improvement or cure someone.

    Please it wanted to contact me you and to realize the same treatment on my girl.

    • Hi Elizabeth! Thanks so much for following along! I’m so sorry to hear about your diagnosis, but know there is real hope and we are getting closer and closer. Please feel free to contact us any time with questions. Facebook or you can email us through this site. You’re not alone in this.

      • Thanks for your support and prompt response. I have several questions that I do not know where to start. My personal email is cadenaelizabeth892@gmail.com
        I would like to know what is the best I can do to help you communicate, how to work on it. Should I medicate her? Because the doctor had recommended us to give GOVAL, which is an anxiolytic medicine.
        Please wait your answers.

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