Rett Syndrome is caused by a defective gene on the X chromosome which is why is it is it affects females the most.
This gene is called MECP2 and it is considered the regulatory gene for every other gene in your body. In other words...It turns on and off all nerve function in the body. When this gene is defective it keeps all functions in the body and brain from performing correctly.
Girls with Rett Syndrome are typically born healthy and appear normal and achieve all of their milestones until 6-18 months of age when first signs of Rett Syndrome start to appear.
Girls start to suddenly lose almost all the skills they have acquired up to this point.
50% of Rett girls are unable to walk
80% suffer from some sort of seizure disorder
They lose most or all of their purposeful hand use.
They suffer from tremors and extreme anxiety
They are unable to speak or sign and have almost no communication skills.
In February of 2007, a complete reversal of symptoms in mice just days away from death was published! Researchers at top-notch institutions all around the world are working on treatments and a cure for Rett Syndrome.Their work is not only helping thousands of girls and women worldwide, but their findings have a direct impact on research on Autism, schizophrenia, bipolar disorder, Alzheimer's,Parkinson's and many other disorders. Most money raised for Rett Syndrome is raised by private efforts. We are by and large overlooked for government funding even with a known gene, excellent animal models and PROVEN reversibility.
You can help by spreading the word and by donating to the cause. You can honor Abby by donating here during the month of April or clicking on the link on the top right of this page.
You can find out more information about our cause and Rett Syndrome at RSRT .