There is an old saying that when you pick up one end of a stick, you also pick up the other end. We are grateful to have such dedicated doctors and specialists who never cease to both amaze us with their skill and their love for Elise. One end of the "stick" with Elise is her diagnosis of Atypical Rett Syndrome. Atypical in this instance means that she meets the clinical criteria for diagnosis, however, the genetic test came back normal. There are some flaws in the testing and 10-15% come back with incorrect results, due to the high cost of the test do another one is not possible. So clinically we continue to press forward.
The other end of the stick is genetics. The dedicated doctors at Primary Children's hospital in Salt Lake City have admitted Elise into the Penelope (genetically undiagnosed) program. This program admits about just a few children each year and the goal of the program is centered in research. Because Elise has had so many tests (especially the genetic exome test) she is a good fit for the program. So the doctors in the penelope program will continue to search for any genetic anomalies that are present in Elise and connect them to genetic data bases and continue to see if there is any other explanation for what is going on . . . and maybe, a step toward a cure for genetic disorders.
This last May we made another trip to the children's hospital to begin the research. We are still currently waiting the reanalysis of the Exome test results. As research catches up with technology hopefully there will be more answers for those still in the "genetically undiagnosed" group. We are excited to be a part of this program and hope through Elise's research there will be more answers for others and us!
I LOVE being a mom to my 5 kids; one with special needs. There is no greater joy than being a parent! I love each one individually but this blog will mostly focus on our daughter with special needs and our journey with her. Thanks for reading!