Dr. Huda Zoghbi, who discovered the gene that causes Rett Syndrome, presents Ashley with a gift shawl. Dr. Zoghbi credits Ashley with inspiriing her to search for 16 years for the cause of Rett Syndrome.
My wife, Judy, and I have considerable experience with Rett Syndrome. In this section, I will share some of these experiences.
Rett syndrome is a developmental disorder that seen almost always in girls. It is caused by mutations on the X chromosome on a gene called MECP2. Rett syndrome strikes all racial and ethnic groups, and occurs worldwide in 1 of every 10,000. Rett syndrome causes loss of the ability to talk, loss of hand use, problems cognitive, sensory, emotional, motor and autonomic function.
Rett Syndrome potentially could be cured. It has been proven in animal models that lost function can be restored regardless of age, but much research needs to be done to find out how to do this in afflicted people.
Dr. Daniel Glaze, former head of the Rett Center in Houston, examining Ashley with Judy looking on.
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