My late daughter, Cammy, was diagnosed with Rett syndrome in 2011. After a few months of being connected with the International Rett Syndrome Foundation, participating in the foundation’s Natural History Study, attending a conference, and meeting other families living with Rett, I became a point of contact for…
Discussion
A woman in her 60s with Rett syndrome and long-standing, difficult-to-treat epilepsy experienced a “remarkable” reduction in seizures after starting treatment with Daybue (trofinetide), according to a case report from a trio of U.S. researchers. The woman, who was only officially diagnosed with the rare genetic disease at…
Discussion
National Grandparents Day was this past Sunday, and it was great to see social media photos and videos of grandparents supporting and loving their grandchildren who have Rett syndrome, the condition that my daughter Abby has endured for 29 years. Abby, alas, has to be content with my…
Discussion
Researchers identified a genetic signature that explains why some people who carry certain mutations in the MECP2 gene, called C-terminal deletions (CTDs), develop Rett syndrome, while others do not. The discovery’s clinical significance was demonstrated when a severe Rett mouse model, treated with a gene-editing strategy to convert a…
Rett syndrome is a rare genetic disorder that mostly affects females. The disease is characterized by normal early development, followed by slowed growth and a loss of motor control. Learn more about the disease here.
Most cases are caused by a mutation in the MECP2 gene. Scientists have identified mutations in CDKL5 and FOXG1 genes in those who have atypical or congenital Rett. Learn more about what causes the disease here.
Rett syndrome is associated with problems in cognitive, sensory, emotional, and motor skills, and across the nervous system that controls involuntary (or autonomic) functions. Learn more about the symptoms of the disease here.
Get regular updates to your inbox.
