Wednesday, March 4, 2009

How likley is it that a cure will be found

There is no cure for Rett Syndrome at this time. However, there is research going on that may lead to a cure. Scientists are using an insulin-like growth factor on mice which is reversing the effect of the mutant gene. A cure for rett syndrome may not be that far off!

organizations to help families with rett syndrome

The International Rett Syndrome Foundation (ISRF) http://www.rettsyndrome.org/

National Organization for Rare Disorders http://raredisease.org/

Sunday, March 1, 2009

What is everyday life like for someone with Rett Syndrome

The quality of everyday life for someone with Rett Syndrome depends on what stage the disorder is in. If somebody has Rett Syndrome in the early stages then life will be almost normal, they may have trouble speaking and they may not have complete control of their hands. If the person is in the middle stages of Rett Syndrome then they will have trouble focusing and will have trouble forming words. Their hands will be shaking while awake, but this will dissappear during sleep. Life will be almost normal in these stages. In the latter stages of Rett Syndrome the person will have trouble walking and will have almost no control of their hands. Attention and speech abilities will decrease greatly. At this point the person will not be able to form words or sentances.

Treatment

Ways to treat Rett Syndrome include:

  • Increasing patients communication skills
  • Modifying social medications
  • Anti-psychotics
  • Parental counseling
  • Speech and physical therapy
  • There should also be regular monitoring for scoliosis and heart abnormalities
  • Some people may require braces to help with scoliosis or splints to help with hand movements.

Life expectancy for someone with Rett Syndrome

The life expectancy of someone with Rett Syndrome is different between girls and boys. Boys typically don't live to see birth, but girls can live normal length lives (70-80 years).