I called my brother, and he was equally shocked. We compared mutations. Cora had a single nucleotide point mutation at c.455 and Georgina a nucleotide duplication at x.898_899.
We met with Dr. Timothy Benke, who runs the Children’s Hospital of Colorado Rett clinic. His presence was calm, and Georgina gravitated to his entertaining demeanor. I explained my family history to him and questioned whether the girls’ mutations could somehow be connected.
His response hit me, “Lightning struck your family twice.”
Although I know that Rett is rare, it sure doesn’t feel that way to our family.
After the diagnosis, I spent hours in bed reading the primary literature on where Rett research is now, joined Rett family Facebook groups, and discovered the Rett Syndrome Research Trust. What really got me out of the devastating news about our family’s second Rett diagnosis is the support I’ve received from others and the HOPE generated by all the progress that is being made! RSRT has been working strategically to identify and fund the development of potential genetic-based cures, and they work in partnership with many biopharmaceutical companies to make these potential cures a reality. These facts help me feel positive about the future for Georgina, Cora, and everyone with Rett syndrome.