Molly and Adam Fleming, the parents of Natalie, a young girl with Rett Syndrome, discuss the treatment landscape for Rett and their hopes for future treatments.
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.
As the Flemings acknowledge, there is currently no approved treatment or cure for Rett Syndrome so treatment primarily consists of reducing the symptoms. The two of them try to keep up with current research through the Rett Syndrome Research Trust. Overall, they find that research on potential gene therapies has moved very quickly which gives them hope. As far as hopes they have for future research, Molly and Adam both wish for a treatment that would improve Natalie’s communication.
For more information about Rett Syndrome and other rare neurological disorders, visit checkrare.com/diseases/neurology