Rett Syndrome is a rare genetic neurological disorder primarily affecting females, with an incidence of approximately 1 in 10,000 births. In 99%+ cases Rett Syndrome occurs spontaneously, or de novo, with no family history whatsoever - just like in Blaire. The condition can lead to profound impairments that impact nearly every facet of a child's life, including their ability to speak, walk, eat, and breathe comfortably. Typically recognized between the ages of 6 and 18 months, Rett Syndrome often manifests through missed developmental milestones or a regression of previously acquired skills.

One of the most distinctive features of Rett Syndrome is the presence of repetitive hand movements, which are observed nearly continuously while the individual is awake. While cognitive assessments can be challenging, many children with Rett Syndrome demonstrate a strong competency, ability to learn, and understanding of their surroundings, as evidenced by their bright and attentive expressions and a rich emotional range and capacity.

Rett Syndrome is caused by mutations in the MECP2 gene located on the X chromosome. Over 900 different mutations and deletions have been identified, primarily concentrated in eight specific "hot spots." The severity and course of the disorder can vary widely, influenced by the type and location of the mutation as well as X-inactivation patterns.

Symptoms of Rett Syndrome can include:

• Loss of speech

• Loss of purposeful hand use

• Involuntary hand movements (e.g., hand-washing motions)

• Loss of mobility or gait abnormalities

• Decreased muscle tone

• Seizures or Rett "episodes"

• Scoliosis

• Breathing difficulties

• Sleep disturbances

• Slowed growth in head, hands, and feet

Understanding and supporting individuals with Rett Syndrome is crucial for enhancing their quality of life and fostering communication and connection.

Resources:
Rett Syndrome Research Trust (RSRT)
International Rett Syndrome Foundation (IRSF)