"D" Day

October 22, 2015.  "D" Day.  We've waited a long time for "D" Day.  One month shy of Alex's 14th birthday we got our "D" Day.  "D" Day.  Diagnosis Day.  Ask anyone who has ever had a "D" Day and I bet they can tell you the date as fast as they could rattle off their birthday or anniversary.  Ask them where they were, what they were doing and I bet they can tell you that too.  It's that significant.  For us, we were in the cafeteria of St. Mary's hospital waiting for Alex to come out of her oral surgery.  My parents were with us and when I hung up the phone I couldn't say anything, I just broke down in tears.  It's been such a long road always having that nagging "what?!?" in the back of my head.  Just wanting to know.

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.