To fund research for treatments and a cure for Rett syndrome while enhancing the overall quality of life for those living with Rett syndrome by providing information, programs, and services.
The International Rett Syndrome Foundation (IRSF) was formed on July 1st, 2007 when the International Rett Syndrome Association (IRSA) and the Rett Syndrome Research Fund (RSRF) consolidated resources in a historic merger.
The International Rett Syndrome Association was formed in 1984 when a determined group of parents (led by Kathy Hunter) banned together to try to fund research for cures and treatments, support other families with Rett syndrome, and raise public awareness. Over the years the organization raised tremendous public awareness, brought life-changing care to families, and helped foster and fund some significant research breakthroughs (including the discovery of the MECP2 gene that causes Rett syndrome).
Want to read more about IRSF? http://www.rettsyndrome.org/
What is Rett Syndrome?
Rett Syndrome (RTT) is a unique neurodevelopmental disorder which begins to show its affects in infancy or early childhood. It is seen almost exclusively in females, although it can occur rarely in boys. It is found in all racial and ethnic groups throughout the world.
Rett syndrome is most often misdiagnosed as autism, cerebral palsy, or non-specific developmental delay. In the past, making the correct diagnosis called not only for a long list of diagnostic tests and procedures to rule out other disorders, but it also took from months to years waiting to confirm the diagnosis as new symptoms appeared over time. Today, we have a simple blood test to confirm the diagnosis. However, since we know that 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.
1. coordinate, cultivate, accelerate, and fund research that will produce a cure for Rett syndrome
2. assist families of individuals living with Rett syndrome by providing them with connections to critical and useful information, programs and support