Genetic Mutation – Layna O'Connor

Over the past few months, I’ve felt compelled many times to provide our family and friends with an update on Piper’s medical journey, but behind the scenes, we were patiently waiting for our final genetic testing results. This wait was absolutely brutal – over 5 months. The whole exome gene sequencing test took place in a lab in California, where they were inspecting individual genes known to cause hearing and vision loss. Mike and I submitted our DNA samples as well, so that if/when any findings were discovered in Piper, they could look for those same changes in us to determine if they were inherited. On July 12, 2021, we finally got “the call.” The geneticist explained that Piper’s testing found an extremely rare gene mutation, which they are certain is the cause of her disabilities. This genetic mutation was de novo, or new in Piper, meaning she did not inherit the mutated gene from Mike or myself. However, they noted that this change could be due to something called mosaicism, which is a condition where there are genetic issues within the sperm or egg cells, but not in the parents’ DNA. After hearing all of this, I think I was in shock. After the first two rounds of more simplistic genetic testing came back normal, we had been told for months that a genetic abnormality was of course a possibility, but the doctor’s really didn’t suspect any findings with this genetic test. (Spoiler – there were findings.)

Continue reading →