Molly and Adam Fleming, the parents of Natalie, a young girl with Rett syndrome, discuss Natalie’s diagnostic journey.
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 talks about what Natalie was like as an infant and what led them to test Natalie for Rett despite her not showing any of the common symptoms at the time. Molly also talks about the importance of having a team of therapists and loved ones to support Natalie.
For more information about Rett syndrome and other rare neurological disorders, visit checkrare.com/diseases/neurology