Rett Syndrome is a serious lifelong genetic neurological disorder that almost exclusively affects girls and is often misdiagnosed as Autism, Cerebral Palsy or a non-specific developmental delay. Rett Syndrome is caused by random mutations of the MECP2 gene on the X chromosome. Rett Syndrome occurs in a variety of racial and ethnic groups worldwide and, although extremely rare and with a very low rate of survival, boys can be diagnosed with Rett Syndrome. The disorder is known to occur one in every 10,000 female births, but incidences may be far greater with children being often misdiagnosed.

Rett Syndrome presents after a period of normal development until roughly 6 to 18 months of life, when the child begins to regress and there is a slowing down or deterioration of skills. Rett Syndrome is devastating because it deprives young girls of speech, hand use and normal movement often including the ability to walk. The disorder brings anxiety, seizures, tremors, breathing difficulties, teeth grinding, Scoliosis (curvature of the spine), as well as severe gastrointestinal issues. While their bodies suffer, it is believed that the cognitive abilities of children with Rett Syndrome remain largely intact based on their bright and attentive eyes and ability to express a wide spectrum of moods and emotions.

Rett Syndrome by the numbers

Despite the difficulty of the symptoms, most children survive to adulthood, but require total round-the-clock care and daily therapies. Although Rett Syndrome is a genetic disorder, less than 1 percent of recorded cases are inherited or passed from one generation to the next. Most cases are spontaneous, which means the mutation occurs randomly. The severity of Rett Syndrome in girls can vary depending on the percentage of their cells that contain a normal copy of the MECP2 gene. If the active X chromosome that is carrying the defective gene is turned off in a large proportion of cells, the symptoms will be mild, but if a larger percentage of cells have the X chromosome with the normal MECP2 gene turned off, onset of the disorder may occur earlier, and the symptoms may be more severe. Essentially, two girls with Rett Syndrome, that are the same age, may have very different levels of functionality.


A second chance at life with those living with Rett Syndrome can be a reality. Rett Syndrome stands apart from other neurological disorders due to the dramatic reversibility of symptoms in animal subjects.

Through extensive research a new gene therapy treatment has been identified with the potential to reverse the debilitating symptoms of Rett Syndrome and give back the lives of the 350,000 children affected by the disorder. Additionally, a variety of other research studies are underway identifying new treatments and therapies to improve the daily lives of those living with Rett Syndrome.

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