What is Rett Syndrome?

Rare genetic disease affecting girls almost exclusively
99+% of occurrences are random mutations of the X-chromosome (not inherited)
Mutation occurs in the MECP2 gene - over 200 distinct mutations identified
Affects 1 in 10,000 girls worldwide (all racial/ethnic groups) – X chromosome MECP2 mutations are generally fatal for males at birth, or shortly thereafter
Often “misdiagnosed” as autism, cerebral palsy, or non-specific developmental delay
Characterized by:
- Normal development in first 6-12 months of life – often no warning signs
- Rapid regression phase at age 1-3
  - Loss of fine and gross motor skills including purposeful use of hands
  - Stereotypical, uncontrollable hand/arm movements - arm flapping and/or hand “wringing/washing”
  - Loss of speech/communication skills
  - Autistic-like gaze
- Second regression phase, typically between age 4 – early teens
  - Continued deterioration of fine/gross motor skills (purposeful hand movements)
  - Scoliosis (affects 80% of Rett girls) and osteoporosis
  - Epileptic-like seizures
  - Breathing irregularities (apnea, sleep issues)
  - Cardiac arrhythmias
  - Persistent gastrointestinal issues
Symptoms typically plateau in late teen years - many girls are confined to wheel chairs and require assisted feeding, communication devices, and other supportive medical equipment
Most Rett girls are never able to live independently, but survive into adulthood

Can you Cure Rett Syndrome?

We hope!

Causal genetic mutations of the MECP2 gene have been specifically identified since 1999!
RS is neuro-developmental (not neuro-degenerative as once thought) – this is important!!
Laboratory research indicates that neurological and physical function can be restored (disease symptom reversal accomplished in mouse models)
Read more and watch the video describing the mouse reversal by clicking here .

Research is critical, on-going, and under-funded!

Genetic modeling - Rett mouse models have been genetically “created” and “cured” (symptoms reversed)
Silent (“Good”) X-chromosome activation
Gene-replacement research
Novel therapeutic approaches (Growth hormone, GABA process, Breathing Treatments)
Natural history studies (patient database collections)
Learning and symptom management research

Therapy is a constant requirement (lifelong) - Physical/Occupational/Speech
Nutrition management is critical
Neuro-rehabilitation and unique learning techniques
Seizure control
Anxiety management
Breathing therapies
Pharmaceutical intervention and assistive devices
Long-term care, financial planning, and estate strategies are a major consideration

Learn more here: RettSyndrome.org