Living with Rett Syndrome
Sharing our journey, insights, highs and lows, and moments of brilliance.
Our Story
Our journey began over 30 years ago. Katelin began regressing at around 15 months old and by 18 months all her skills were gone. When gene testing became available when she was six, she was tested and came out positive for the T158M mutation.
Times were different then, Rett was classified as a neurodegenerative disorder. We now know this is not true. There were few, if any, services and life was very difficult. She developed seizures, kyphosis, aggression and self-injurious behaviors. Rett was poorly understood and doctors were loathe to medicate for behavioral issues. Luckily, those days are long gone.
In 2003, Katelin participated in the first phase of the NNZ-2566 trial. (for archived information and posts, go to www.trailtoatexastrial.wordpress.com ) This became known as Trofinetide and eventually became the first FDA approved treatment for Rett syndrome-Daybue.
Thank you to Neuren Pharmaceuticals and Acadia Pharmaceuticals for never losing the faith and bringing Daybue to Katelin and others.
