What's Rett Syndrome?

Rett Syndrome is a genetic neurological disorder that occurs almost exclusively in girls.  After birth, girls with Rett Syndrome have 6 to 18 months of apparently normal development before suffering severe, rapid degeneration resulting in problems with language and communication, learning, coordination, eating and other brain functions. Girls can ultimately lose the functioning use of their hands, walking ability and speech.  Other signs and symptoms that can develop include breathing abnormalities, seizures, scoliosis and sleep disturbances.  The rapid period of regression is followed by a long period of stabilization that can last the remainder of their lives. 

Rett is most commonly misdiagnosed as Autism,  Cerebral Palsy, or non-specific developmental delay.
— rettsyndrome.org

Rett Syndrome is caused from a spontaneous, random mutation of the MECP2 gene on the X-chromosome.  In order to be properly diagnosed with Rett,  girls will have a number of clinical symptoms and confirmation will ultimately come through genetic testing to see if they have the MECP2 mutation.  The road to finding a diagnosis is long and tedious.  Evelyn's journey to find a diagnosis included MRIs, EEGs, EKGs, X-rays, therapies, genetic testing, and countless doctor's visits.  

Evelyn along with other girls with Rett Syndrome exhibit most or all of the following symptoms:

  • Loss of coordination
  • Loss of communication abilities
  • Abnormal hand movements
  • Hand biting
  • Unusual eye movement
  • Sleeping problems
  • Breathing problems
  • Difficulty eating
  • Irritability
  • Random bursts of laughter (we love this one)
  • Random bursts of uncontrolled screaming (we don't love this one)
  • Staring spells
  • Seizures
  • Small, cold hands & feet
  • Small head size
  • Heightened risk of pain
  • Cognitive disabilities
There is currently not a cure for Rett syndrome, although the medical community is closer than ever to finding a cure!

Girls with Rett Syndrome will need lifetime assistance through therapies and  other medical interventions.  We are extremely hopeful that there will be a cure in our lifetime and we will be doing our part to find a cure!  We have already seen major breakthroughs  in technology, medication and genetic testing that have given positive results.  We hope that this is only the beginning to helping Evelyn and all the other girls living with Rett!  

Information provided by Mayoclinic.org, NIH.gov & Rettsyndrome.org