Friday, September 4, 2015
Friday + Genetics
Sarah had a conversation with the neurology clinic today and she got us set up with an appointment next month. Fortunately, we were able to keep seeing our regular neurologist, who we have been seeing for the past 6+ years. He agreed to keep Mira on as a patient, even though she does not have a confirmed genetic mutation that is causing her seizures. Although, she tested positive for a mutation in the TPP1 gene, which I had read can still cause issues despite it being a heterozygous mutation, we were told it probably isn't relevant to her seizures. I don't quite understand it, as the report I read from GeneDx is contradictory to me - one of the things we will discuss with him next month.