It has been a few years since Queen Esther, my lovely daughter, was diagnosed with Rett Syndrome. I’m just now at a place where I want to share more of her life and what a life she leads! While Rett Syndrome has stolen so much of her control over her body, The Queen is SMART. She loves people and adventure.
Rett Syndrome is caused by a random mutation on the MECP2 gene on the X chromosome shortly after conception. There is no known reason why this mutation occurs, but it can’t be prevented and currently there is no cure. This mutation affects the MECP2 protein which is present in all cells and helps the mind signal to the body. This mutation impacts fine and gross motor skills, speech, muscle coordination and tone, and general developmental skills. Boys and girls with this syndrome often understand everything people say to them, but the absence of the MECP2 protein keeps them from being able to vocalize or sign their responses. Their eyes often communicate what their bodies cannot.