Alex, Aaron and I had our blood drawn in July for whole exome testing. The results were not supposed to be back until the end of November or December.
We now know that our sweet girl has a mutated variant on her 12th chromosome on a gene called grin2b. We also know it was not something inherent, it's not genetic, it's nothing I did, it's not something we have to worry about Zachary passing on to his children. It was just an unfortunate fluke that happened. We go for genetic counseling in November and will get more information then. Everything I have researched is so technical so I'm hoping the geneticist can break it down into more layman terms. One thing we do know is that seizures are a significant part of this diagnosis. I don't really think it was coincidence we got the diagnosis days before we were being admitted into the Epiliepsy Monitoring Unit.
So while we now have our "D" Day and some questions can be answered, the one thing that won't change is our incredible love for this child and our commitment to give her the very best life we can.