Friday + Genetics

After the bus accident, the rest of the week has been fairly uneventful. Mira has been in a pleasant mood for a majority of the time, despite averaging one or two tonic-clonics a day. She has been getting positive reports back from school, informing us that Mira is really enjoying herself most of the day - in a good mood all day, with the occasional disapproval of being in the Kidwalk. That's not out of the ordinary. If there is one thing that I have noticed over the past few months of her being on the pyridoxine, it's that Mira's mood has improved. She seems to have more good days than bad, even through all of the seizure activity.

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.