Rett Syndrome

Rett Syndrome is a neurological disorder seen almost exclusively in females, and found in a variety of racial and ethnic groups worldwide.  First described by Dr. Andreas Rett, RS received worldwide recognition following a paper by Dr. Bengt Hagberg and colleagues in 1983.

The child with RS usually shows an early period of apparent normal or near normal development until 6-18 months of age.  A period of temporary stagnation or regression follows during which the child loses communication skills and purposeful use of the hands.  Soon, stereotyped hand movements, gait disturbances, and slowing of the rate of head growth become apparent.  Other problems may include seizures and disorganized breathing patterns that occur when awake.  Apraxia (dyspraxia), the inability to program the body to perform motor movements, is the most fundamental and severely handicapping aspect of RS.  It can interfere with every body movement, including eye gaze and speech, making it difficult for the girl with RS to do what she wants to do.  Due to apraxia and lack of verbal communication, an accurate assessment of intelligence is difficult.  

RS is most often misdiagnosed as autism, cerebral palsy or non-specific development delay.  While many health professionals may not be familiar with RS, it is a relatively frequent cause of neurological dysfunction in females.  The prevalence rate in various countries is from 1:10,000 to 1:23,000 live female births.  The recent discovery of several mutations in the MECP2 gene on the X chromosome has established the genetic basis of RS.   

Until now, getting new scientists interested in an obscure disorder like RS was a challenge.  Today, we face far fewer obstacles.  With the gene discovery (September 1999) that suggests a much wider Rett population and the prospect that the gene is implicated in other much more common disorders such as autism and other neurological disorders, we are witnessing an explosion of interest in research.  With the skyrocketing interest in research, the need for funds is more critical than ever.  We need your help to continue to fund science that will help us continue to unravel the mystery of Rett syndrome until we have found the treatment and cure.  Reverend Robert Schuller says “If you can dream it, you can do it.”  We as parents of a girl with RS have dreamed it enough – a world where Rett syndrome no longer limits, hurts or ends the lives of our precious daughters.  But can we do it?  Are dreams enough?  To become reality, behind those dreams must dwell a lot of hard work.  We are very fortunate that our Rett family includes some of the most talented and dedicated researchers in the world.  They join us in looking forward to the day when Rett syndrome is no longer known, not because it is not recognized, but because it has been defeated.  In clinics and laboratories all over the world, these scientists are concentrating harder than ever. 

Check out http://www.rettillinois.org/ for more information.