When Emma was born, everything seemed typical. She met her early milestones — smiling at her parents, grasping their fingers, cooing at the world. But around 18 months, things began to change. The words she had started to form disappeared. Her purposeful hand movements gave way to repetitive motions. She began having trouble walking.
After months of uncertainty, Emma’s family received a diagnosis: Rett syndrome, a rare neurological disorder that primarily affects girls, caused by mutations in the MECP2 gene. While Rett isn’t degenerative, it impacts brain development and often leads to loss of speech, motor skills, and coordination.
Emma’s days now include physical therapy to help maintain her mobility, occupational therapy to support daily living skills, and speech therapy — which, for her, means learning to communicate using eye-tracking technology. Though these therapies are challenging, they allow Emma to engage with the people she loves most.
Her parents describe her as “fierce and full of light.” Emma loves music, listening to the sound of rain, and laughing when her little brother makes silly faces. While Rett syndrome has altered the path they imagined for her life, it hasn’t dimmed her personality or spirit.
Emma’s journey is a reminder that rare diseases deserve recognition, research, and resources. Each day, her family and care team adapt, advocate, and celebrate every victory — from a small movement to a single glance that says, “I’m here. I understand. I’m with you.”