Normal for 18 months, then Rett syndrome: a family's long road to a diagnosis
A father recounts how his daughter appeared perfectly normal for the first 18 months, then rapidly regressed in speech and motor skills, leading to a long diagnostic journey that culminated in Rett syndrome in October 2022; after initial ER visits and a misdiagnosis of autism, genetic testing confirmed Rett, and now five-year-old Talia receives multiple therapies with the family hopeful for FDA-approved treatment and continued support.