Rett Syndrome is spontaneous.  You have as much chance having a child like Chickadee as I did.  It is also genetic, sort of like Downs Syndrome.  Downs Syndrome has an entire extra chromosome.  Rett Syndrome has a tiny protein disturbed at the end of one X chromosome.  This is why most children with Rett Syndrome are girls.  To live, a person MUST have the ability to produce the affected protein. Boys have only one X protein, and therefore would be severely impaired or manifest as a miscarriage.

It is also a mutation.  Because the gene containing the protein causing Rett Syndrome mutates differently for every affected person.  Some have duplications within the protein.  Others have nonsense additions.  Finally, there can be parts of the gene protein that are deleted in the mutation.  Chickadee is missing a pretty large chunk of the protein MECP2.  There are four parts to the protein.  Chickadee is missing the entire third part and missing part of the fourth.  It might not be as bad as it sounds, because each gene has a 50% chance to be expressed.  It’s all a matter of playing the odds.


Chickadee has experienced several Regressions due to Rett Syndrome.  They will likely continue until she is six years old, but hopefully lessen.  She has many many medical interventions

Wikipedia Synopsis including research developments

Or on the identification of the genetic mutation (one hour long):

1. At minute 36 the link to some types of mental retardation, balance problems, bipolar
2. At minute 49:30 how Rett Syndrome Research can help with Autism, Seizures, Mental Retardation and many other disorders and diseases. Identifying the location of the gene expressions for Rett Syndrome symptoms will be of infinite worth to the other conditions.

Huda Y. Zoghbi, Howard Huches Medical Institute investigator and professor at the Baylor College of Medicine

Finally on the potential of finding a Reversal for Rett Syndrome:
Brain is Poised to Improve