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01 October 2007

::rett syndrome::

Rett Syndrome is a neurodevelopmental disorder that affects almost exclusively girls. It causes lethality in males during the embryonic stage. It is an X-linked genetic mutation that is usually not inherited from the parents.

Infants with Rett Syndrome usually do not develope symptoms of the disorder until 6-18 months old. Neurological development tends to plateau after this brief period of normal development, and is followed by regression of previously acquired skills. Psychomotor abilities rapidly decline between 1-2 years of age. Early features are similar to those of autism. It is, therefore, easy to mistakenly diagnose Rett syndrome for autism. The symptoms vary in severity, depending on the girl.

I was introduced to Rett Syndrome by a friend of mine whose daughter was recently diagnosed with the disorder. E is such a wonderful, lovely girl. With the help of her incredibly patient parents and knowledgeable therapists, she is thriving. A recent landmark research study has shown that Rett Syndrome symptoms can be reversed in a genetic mouse model.

To learn more about Rett Syndrome, please visit the Rett Syndrome Research Foundation. You can also donate money to the Foundation by giving what you can here. (NOTE: Please put "Fairfax, VA" in the Program Area box.)

1 comment:

Doris said...

You are so sweet to do this! I'm really touched. :)