Molly and Adam Fleming, the parents of Natalie, a young girl with Rett syndrome, give advice to other Rett syndrome parents.
Rett syndrome is a rare progressive neurodevelopmental condition that primarily affects girls. These girls appear to have normal pyschomotor development during the first 6 to 18 months of life, followed by a developmental “plateau,” and then rapid regression in language and motor skills. Common symptoms include hand-wringing; fits of screaming and inconsolable crying; autistic features; panic-like attacks; bruxism; episodic apnea and/or hyperpnea; gait ataxia and apraxia; tremors; seizures; and slowed head growth. Rett syndrome is most commonly caused by a sporadic mutation in the MECP2 gene on the X chromosome. The majority of cases are not inherited from a parent. Treatment mainly focuses on reducing specific symptoms of the condition as there is currently no approved treatment or cure for Rett syndrome.
Molly first advises finding ways to allow your child to communicate with you. She then suggests getting familiar with Rett syndrome organizations such as rettsyndrome.org/ and Rett Syndrome Research Trust.
For more information about Rett syndrome and other rare neurological disorders, visit checkrare.com/diseases/neurology
