International Rett Syndrome Foundation
The International Rett Syndrome Foundation is an Ohio based charity whose main goal is research, treatment, and a cure for Rett Syndrome. They aim to provide information, programs, and services to increase the quality of life for people who suffer from the condition. Acceleration and coordination through fund research is the IRSF's way to impact the lives of people who suffer from Rett Syndrome. The hope is to develop treatments that will allow sufferers a richer and pain free life. IRSF also offers programs and services to support and connect with families of loved ones with the condition. Through strategic fund raising and fiscal integrity, the IRSF has gained and maintained a Four Star Charity Navigator rating.
Rett Syndrome
Rett Syndrome was discovered in 1954 by Dr. Andreas Rett, a pediatrician in Vienna, Austria. When he noticed two girls in his waiting room making the same repetitive hand-washing motions he studied their medical and developmental histories and noticed that they were very similar. When he checked with his nurse, he discovered that he had six other girls in his practice that displayed similar behavior. Rett made a film of these girls and attempted to seek other children in Europe with the same symptoms.
Dr. Rett published his findings in 1966 in German medical journals, which were well known in that region, but by no means mainstream information. Dr. Bengt Hagberg had also been doing research on this condition in Sweden since 1960. The findings hit the mainstream when Hagberg published an article in an English-language journal, Annals of Neurology in 1983.
Another major breakthrough happened in 1999 when Ruthie Amir, member of the Baylor team discovered the mutated gene that causes Rett Syndrome. The discovery that the mutation occurs on the X chromosome and that only one of the chromosomes require to mutation to produce the disorder. This is also why Rett Syndrome is usually only found in females.
Rett syndrome is most often misdiagnosed as autism, cerebral palsy, or non-specific developmental delay. It is difficult to determine when RTT will hit the child during their development, but usually it starts after 18 months. Parents will notice a slowing or stasis of skills followed by a period of regression. The child will display lack of communication, purposeful use of hands, and a slower rate of head growth. Other problems include abnormal breathing patters and seizures. The child will require maximum assistance with every aspect of daily life, and the life expectancy is hard to judge due to the rarity of the condition.
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