October is Rett Syndrome Awareness Month, a time to foster understanding about this complex neurological disorder that impacts mostly females — one in 10,000 births globally. Rett syndrome affects multiple organ systems and can lead to severe impairments that disrupt key aspects of an individual’s life. “This condition is rare, but it places a heavy burden on families,” says Dr. Anita Datta, a pediatric neurologist, epileptologist, and investigator at BC Children’s Hospital Research Institute (BCCHR). “Currently, there are many developments underway around the world focused on improving these patients’ quality of life, so this is a time of hope.”
With no cure, this syndrome results from mutations in the MECP2 gene, located on the X chromosome. This gene is crucial for brain development and activity, helping control how brain cells function and communicate. When it doesn’t work properly, MECP2 disrupts brain signaling, impacting control over important functions such as the ability to speak. In the Rett Syndrome Clinic located in the Neurological Care Centre at BC Children’s Hospital (BCCH), Dr. Datta, Dr. Gabriela Ana Horvath, and colleagues look after approximately 50 patients from across the province.
