Rett Syndrome is a rare neurological disorder primarily affecting girls. It is estimated that 1 in 10,000 to 15,000 girls is born with Rett Syndrome. It is very rare for a boy to have Rett but not impossible.
Rett Syndrome is caused by a mutation on the X chromosome in a gene called MECP2. Girls have two copies of the X chromosome and only one out of two is affected. Boys have one X chromosome and that is why if they are born with Rett, they often have very severe disabilities.
It is often difficult to diagnose Rett because symptoms may not start appearing for 6 to 18 months. Even after that, patients look very different from one another and many doctors have difficulty identifying Rett. A special gene test is required to confirm the diagnosis. The course and severity of the disease is often difficult to predict. It is possible that the type, location, and severity of the mutation may have an impact on the disease severity.
As of right now there is no cure for Rett. Most patients receive hours of therapy each day just to delay deterioration in health conditions. Many girls with Rett Syndrome attend school and try to play with other kids their age. They are able to learn basic topics that are taught in school.
Nonetheless, research is on its way! Scientists have been battling with Rett Syndrome for over 50 years, but research intensified after some amazing experiments 10 years ago (click here for more info). Many researchers hope that a cure is going to be found within a few years. Understanding the current research and how close we are to finding a cure can help reassure family members. Being hopeful for the future helps people get through difficult times.