I thought I would have to teach my daughter about the world; turns out I have to teach the world about her. They see a girl who doesn't speak,
I see a miracle who doesn't need words.

Wednesday, October 28, 2015

"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.

Friday, October 9, 2015

Random Updates!

I think we are finally settling in from the move and back in some sort of routine.  Maybe now I can keep up with my blogging!!  We are loving the new house - it is working out just perfectly for Alex.  We are remodeling her bathroom to make it bigger for her bath chair, but that's all we have to do.  Unfortunately Alex is having a lot of issues with her seizures again.  And in true Alex fashion, she's changing it up and has decided that she's not going to have them just when she's sleeping, but she's going to have them while she's awake too.  I don't know if it's because we had a lot of air pressure changes last week with the potential hurricane and storm systems but she had 6 grand mal seizures over the weekend.  I kept her home from school on Friday because she had 2 pretty intense seizures that morning and it was pouring rain out - it took a lot out of her so she snuggled with me all morning on the couch and slept a lot. 
Her blood work is still showing her valproic acid levels are high so we are scheduled for a week long hospital stay at the end of the month to see if her EEG's show any changes and to completely take her off the valproic and switch her meds. We have no idea what the right new combination for her is going to be.  Her neurologist said to plan to stay for 7 days.  Good times ahead.  :/

She is growing like a weed, which is not helping her back situation.  She get's some breaks from the brace during the day and that makes her one happy girl :)
I can't believe it's already been a month since school started!  For the first time ever Alex and Zach are in the same school.   I didn't realize what I was missing, it's a beautiful thing.
First day of 7th Grade!
We tried having her wear her brace under her clothes - that lasted one day - she makes quite the fashion statement every day!
Zach's first day of 6th grade!
Although it's a very big change from elementary school (in more ways than one), Zach is adjusting really well to middle school.  He has quite the girl fan club, not sure I'm ready for all that just yet. 
It is not cool to take pictures at the bus stop.  Shoot, I don't think it's "cool" to even talk to him at the bus stop!  I think I deserve a ton of credit though because there were several moms asking kids to pose for pictures, including saying "Say 6th Grade!", etc.  I kept my camera in my pocket.  When Zach got home I said "aren't you proud of me for not taking any pictures at the bus stop?!?"  To which he replied, "I'm sure you snuck one of me getting on the bus or something like that."  I told him I was hurt that he would think that I would do such a thing ;)
But I totally did, he knows me so well!
This is a brand new journey for him - these are very defining years - how could I not take pictures?!?
With Middle School comes a right of passage here in the South - Cotillion!  Growing up in New York we never had anything like cotillion so I have nothing to compare it to and had not wisdom to impart, but he had a great time. 

My little man - He looks so grown up.

He has a great group of friends he has gone all through elementary school with that also live in the neighborhood.  They are all such really good kids - they are in different schools this year but I'm excited to see how their friendships continue to evolve.

Zach, Colin, Riley and Cole!
As most know, We Heart Harlie and Friends is an amazing foundation that is so near and dear to me, for several reasons.  Lynda, the founder, is a dear friend of mine as is Christy, Harlie's mom. The foundation does amazing things to help medically fragile children and Alex is one of those lucky enough to be a "Friend".   Channel 8 came to my house and interviewed Lynda and Christy and aired the story last week. 
Christy, Cameraman, Lynda, co-anchor Amy Lacey and yours truly!

Here's a link to the video that ran:  Positively Richmond

I truly feel so blessed that we are a part of some really incredible organizations (see the top left of my blog for info on my favorites!)   Sometimes when this road gets really bumpy I know these great people are there for us, and sometimes that's all you need!