Rett syndrome is a severe neurological disorder that randomly strikes 1 in 10,000 to 15,000 young girls within the first two years of life. Rett Syndrome affects males also but few are known to survive to pregnancy. Rett Syndrome can affect any child in any family. Almost all (greater than 99%) of those affected by Rett syndrome have no case history in their family with Rett syndrome.

Most children with Rett syndrome will "appear" to development normally for about the first 6 to 18 months.

After that, a typical Rett syndrome child begins to suffer the loss of speech and the ability to walk normally. This is soon followed by the loss of purposeful hand use which is often replaced by hand wringing or clapping, autistic like behavior, aggression, screaming, self injurious behavior, significant breathing dysfunctions, seizures, seizure like behavior and tremors, scoliosis and kyphosis, severe muscle spasticity, weakness, and loss of muscle mass, severe teeth grinding, decreased growth, and poor sleep and sleeping problems.

Prolonged QT syndrome, a life threatening cardiovasular disorder, is more prevalent in those with Rett syndrome than the general population. Children and adults with Rett syndrome should be tested for prolonged QT to begin appropriate treatment, and to avoid medications that may make it worse.

A genetic mutation (MECP2) was discovered in 1999 that accounts for most Rett syndrome cases. MECP2 testing is now available.

Prognosis and Life Expectancy

The course and severity of Rett syndrome vary from individual to individual. Some girls have symptoms from birth onward, while others may have late regression or milder symptoms.

Because the disorder is rare, very little is known about long-term prognosis and life expectancy for females. Life expectancy varies, depending on the severity of Rett syndrome and it's complications. Females with Rett syndrome can continue to live well into middle age and their 30's, 40's and beyond while others die abruptly at much younger ages.

Males with an mecp2 mutations and Rett syndrome do not usually survive birth or die quickly after birth.

Treatment

There is no cure. Therapies to improve the quality of life remain elusive. The outcome of this disorder continues to be a life time of constant care marked by decreasing motor and muscle ability and symptoms listed above. Specialized equipment, surgeries and full time care from a parent or sibling often become a standard part of life for these children and adults for their entire life.

Our Hope

For those living with Rett Syndrome, our best hope for a future free from disabilities is through research. While we may not ever find a "cure" we still have many options available to explore to help improve the standard of life for those with Rett syndrome today. A great challenge lies ahead of us to understand incredibly complex disorder and develop an effective therapy to combat it.