It's the little things that push us through :)

   Aaaahhhh! I'm like dying of cuteness overload right now!! So I was playing with Neeners (Celina's nickname) and kissing on her fat lil' cheeks, when she giggled! the cutest little giggle on the entire planet!! I'm swooning! lol I know this may seem like its not THAT big of a deal. But this was her first giggle ever!! With her developmental delays and hearing loss, Its something I wasn't expecting to hear for quite a while. One VERY happy mamma right here. :D

  Earlier in the week, I think it was the day after my last post, A genetic counselor, who is also a founder of the CHARGE foundation, Got in touch with me. First we e-mailed back in forth. Sent her pictures of some of Celina's features and then she called me. We chatted about Celina and CHARGE syndrome for well over an hour. We discussed all of Celina's major Issues and the minor ones as well. MH (CHARGE genetic counselor/founder) was soooo informative! I learned that based on Celina's Coloboma, Heart defect, PDA, and Cleft, She has a definite clinical diagnosis of CHARGE. Not maybe. Not what if. They can (and most likely will) diagnose her before they even run anymore tests. What I had thought was, the test would give us a yes or no answer as to whether CHARGE was the answer. Turns out this is not the case. Just like any other "symptom", for example, Some CHARGE kids are deaf, some are not. Some have Breathing issues, Some do not,  The mutated chromosome is also just a "symptom". Only %60 of people who have CHARGE test positive for this. Here are some of MH's Exact words:" By "clinical definition" on paper, she already fits a definite diagnosis.  But we always want to take a look at kids - syndromes with similar features have a different "look." ". She then asked for pictures, which I sent, And when on the phone told me she doesn't have the "look" she was talking about for other possible syndromes. Which tells us CHARGE is the most probable diagnosis. My gut tells me this is 99.999999% correct. I'm Just so sure. I cant explain why. I just am. Everything just fits so perfectly into this diagnosis. I've already joined some online support groups that MH suggested. And reading all those experiences just cements it for me. A lot of the CHARGE children have more issues than Celina, some have less. It just makes so much sense. This HAS to be what Celina has. 

  Thursday we have our long awaited genetics appointment!! I seriously cant wait! I cant believe how long the wait is to get into one!! We've been waiting over a month!(Funny thing, MH actually personally knows the geneticist at Children's) We will finally have our answer. Though I feel I already know our answer, We will finally have a confirmed answer. I do wholeheartedly believe they will clinically diagnose her that day.  

   While I'm happy to have (or should I say will have?) answers, and the wondering is over for me. I'm still sad. I think those I'm close to get the impression (of no fault of their own. its how I hold myself to be perceived) i'm fine with this answer. And while in most ways I am, Deep down there's always that seed of hope. That maybe this is just a weird fluke. Maybe it isn't any sort of syndrome. And now that seed is gone. And I grieve. I didn't want this to be our answer. I wanted a different one. I just knew better. I still hoped though.On the other side of it I am so happy to now be able to move on. To now worry about whats BEST for Celina vs. Whats WRONG with Celina. We get to move forward in taking steps to give her the best life we can! While I'm sure there will be many bumps along the road. I'm happy to move forward instead of questioning everything. 

  Thanks again everyone for your thoughts and prayers. I cant thank you enough! If you could please continue to do so!

Here's a link to the CHARGE Syndrome foundation. Take a look! Very Interesting!
www.chargesyndrome.org?

Dont know why half of this is highlighted but I dont know how to get it off.