What is IRSF? It is the International Rett Syndrome Foundation.
What is Rett Syndrome? A unique developmental disorder that is first recognized in infancy and seen almost always in girls, but can be rarely seen in boys. Rett syndrome has been most often misdiagnosed as autism, cerebral palsy, or non-specific developmental delay. It is caused by mutations on the X chromosome on a gene called MECP2. There are more than 200 different mutations found on the MECP2 gene. Most of these mutations are found in eight different “hot spots.”
Rett syndrome strikes all racial and ethnic groups, and occurs worldwide in 1 of every 10,000 to 23,000 female births. It is a developmental disorder. It is not a degenerative disorder. It causes problems in brain function that are responsible for cognitive, sensory, emotional, motor and autonomic function. These can include learning, speech, sensory sensations, mood, movement, breathing, cardiac function, and even chewing, swallowing, and digestion.
Rett syndrome symptoms appear after an early period of apparently normal or near normal development until six to eighteen months of life, when there is a slowing down or stagnation of skills. A period of regression then follows when she loses communication skills and purposeful use of her hands. Soon, stereotyped hand movements such as hand-washing, gait disturbances, and slowing of the normal rate of head growth become apparent. Other problems may include seizures and disorganized breathing patterns while she is awake. In the early years, there may be a period of isolation or withdrawal when she is irritable and cries inconsolably. Over time, motor problems may increase, but in general, irritability lessens and eye contact and communication improve.
Rett syndrome is confirmed with a simple blood test to identify the MECP2 mutation. However, since the MECP2 mutation is also seen in other disorders, the presence of the MECP2 mutation in itself is not enough for the diagnosis of Rett syndrome. Diagnosis requires either the presence of the mutation (a molecular diagnosis) or fulfillment of the diagnostic criteria (a clinical diagnosis, based on signs and symptoms that you can observe) or both. It can present with a wide range of disability ranging from mild to severe. The course and severity of Rett syndrome is determined by the location, type and severity of her mutation and X-inactivation. Therefore, two girls of the same age with the same mutation can appear quite different.
Rett syndrome presents many challenges, but with love, therapy and assistance, those with the syndrome can benefit from school and community activities well into middle age and beyond. They experience a full range of emotions and show their engaging personalities as they take part in social, educational, and recreational activities at home and in the community. 1
IRSF is in the running to win a $250K research grant from the Pepsi Refresh Project. This grant could mean $500K for Rett Syndrome due to a generous matching gift grant from the Pioneer Fund of Colorado. Research has shown that symptoms of Rett can be reversed in a mouse model. IRSF is targeting research funds to discover, develop and test new drugs to treat and reverse Rett Syndrome. The research is too promising to not fight for this grant!
We need YOU to be a Rett Hero today and help IRSF win $500,000. Make it your goal for the next 10 days to get 10 new people a day committed to vote daily. VOTE EVERYDAY and SHARE!
There are three ways to vote, everyday (You can vote ALL THREE WAYS everyday):
- Text a vote: Send 100842 to Pepsi @ 73774 (you should receive a thank you text; standard text messaging rates apply)
- Vote with FACEBOOK: @ http://www.rettsyndrome.org/pepsi (Click on the VOTE link, go to lower left corner and click “Sign In,” click and complete “Log in with Facebook,” click “Vote for this idea” and then sign out.)
- Vote with the Refresh Site @ http://www.rettsyndrome.org/pepsi (Click on the VOTE link, make sure you sign in, click “Vote for this idea,” then sign out.
SEE THE FACES OF RETT SYNDROME
Links to other Rett sites:
Girl Power, Girl Power Blog, Rett Girl, Rett Girl Blog, Rett Help, Rett Syndrome
PLEASE REMEMBER TO VOTE EVERYDAY!
Bonus: Win an iPad– sign up for the daily email reminders and vote for IRSF every day! If IRSF wins the $250K, your name and email address will be entered into a drawing for a chance to win an iPad!
Spread the word. Click on any of the SHARE options below!
1Quoted from IRSF

It began one day last March when a young mother named Amanda Elliot, 27, went to retrieve her three-month-old from her babysitter, April Brown, 46. Only instead of giving the baby back to her mother, Ms. Brown informed Mandy that she had gone to court that morning and petitioned for emergency custody of the baby. “Wow,” you may think, “what a crazy squirrel that babysitter is.”





















