Face to face with Rett Syndrome

"We are new to  Rett Syndrome. Ella had a diagnosis of autism for six years. Her symptoms haven't changed---the gut problems, the agitation, the seizures, the lack of language--- but having both a genetic explanation and the real possibility of a cure catapults us into a whole new world. Rett research has come so far, so fast, compared to autism research. Though our Ella is the same, my husband and I suddenly have a very different outlook. We have great confidence in RSRT."

"When the doctors first told us Rachel had Rett Syndrome, we thought  it was a death  sentence. Now two years later she's blessedly still  with us, but she has lost so much. She has a feeding tube, splints on her arms to keep her from being able to bite her hands, and she screams and cries for hours every day. We've been told she will never walk. Without a research breakthrough, we've realized  Rett Syndrome is a life sentence that will always imprison our little girl."


"Maria looks at us with those bright, intense eyes, trying to communicate, and everyone in the family senses how trapped she is, a ten-year-old with a body that has regressed to the motor skill levels of a tiny infant. It's been eight years since she lost her last word. It was "papa." I live for the day I'll hear my girl say that to me again."


"After our first son was diagnosed with Asperger's, I thought I could handle anything that came along. When Addison was born the following year, she was perfect! I was so relieved and grateful. But it was only ten months later,  after I'd pestered our developmental pediatrician, that we tested Addy for Rett's. He told me I was being paranoid, and that all the little things that reminded me of her brother's early development would pass. When the result came back positive, I went into shock. I read everything I could about this horrible disorder. I quickly found the Rett Syndrome Research Foundation and you, Monica, and now I'm counting on the Rett Syndrome Research Trust to continue the high standards you have set for accelerating research."


"As the mother of a 30 year old, there isn't a day that I don't worry about leaving her alone in this world without my protection. So fragile, mute and sensitive, strapped into her wheelchair, weakly wringing her hands, she is the picture of vulnerability. Dr. Bird's work is like a miracle. Before the reversal, I would never have dared to imagine that someone my daughter's age might be able to be helped, so I didn't really follow research closely. Dr. Bird's work changed everything.  I pray this vital research can move quickly enough to benefit not only the little girls, but the  women like my daughter, in my lifetime."