Well just want to warn you - this could be a long post...so feel free to skip it if you want. And also if you were hoping we have some definite answers to all that is going on, well no not really we probably have more questions now; but we are on the road I think to finding more answers.
So Addison has been seen by genetics, where she had testing done for Connexin 26/30 - these are genetic links that could have explained her hearing loss. Both of these tests came back normal/negative. That was great news in many ways; but of course didn't answer the question as to why Addison has hearing loss. Honestly when we began the journey with genetics we felt that it would be to rule out all the possible causes and just learn that it was unexplainable. Well Addison's growth has in the mean time kind of stalled, she's only at the 10 % for weight and now after a growth spurt height wise about the 30% (I think). Her head though...it's been raising concerns for us since June. At 6 months it measured 42 cm...today it measured 42 cm. Not so good. In her records there has been doctors' notes about microcephaly (which means small head) but no one has said to Mike or I that Addison has microcephaly. At her 15 month well check, the doctor (our new PCM that we are finally happy with!) agreed it was best to see a neurologist.
Today was a bit of an emotional day, right now it's not quite so bad...I'm sure in the weeks to come after tests and doctors' appointments there will be some "harder" days...but now we are all dealing very well with the news from today. First, the neurologist seemed competent, he was direct, and seemed very much to want to find answers and help us on this journey. However, when I left Addison's appointment and called Mike (right before he went to work and couldn't be on his cell phone all day none the less) I was teary eyed and honestly felt like someone had punched me hard in the stomach and knocked the wind out of me. The neurologist was frank, he was honest. He wanted to know other than the microcephaly why we were seeing him. I explained that no one had actually told us that Addison had microcephaly, we hadn't heard that - read it in the notes but no one confirmed this to us. He said yes, he could easily see just looking at her that she does in deed have microcephaly. I told him, that we wanted to know what if anything was causing her growth to seem so slow, for her head to have not grown in the past almost 10 months. We also have had concerns just recently that Addison will on occasion walk into things, like walls and large furniture. She doesn't do this all the time, she doesn't even do it every day but sometimes (maybe 2 - 3 times a week) she will seem to be looking directly at something and just walk right into it full force, then seem surprised that it is there. He ask if she ever seems to stare in space, just be zoned out...well yes just this weekend Mike and I both noticed it, but it was only a few seconds. Honestly we joked about it, not thinking too much of it. I also mentioned that she's seeing an endocrinologists and we will likely be having growth hormone tests done in the near future but the endocrinologist said until she was 2 that there wasn't treatment, so was comfortable waiting a bit and letting us try to again increase the calories she takes in daily to see how she handles that.
I am saying all of this, he's nodding, clarifying what I am saying, asking questions about MRIs, CT scans, 3D images of her head, chromosomal tests...I keep saying no we haven't done that, no not yet, I have asked since June about the CT scan that was recommended in Omaha at Boys Town...no one has agreed to it. He asked about her hearing loss and how it has changed, he isn't happy that it is progressing. He looked at her ABRs and made more notes. Then he says, we have a lot of tests that need done. I want to order these tests so we have information to go on and identify the syndrome. Wait...wait...wait...he just said identify the syndrome...meaning Addison has a syndrome...no one has said this. Mike and I were just talking last night about how Addison is small, she has some hearing loss, but really she's meeting all the typical milestones. Mike isn't worried...she's perfect, oh yes and very much her daddy's girl. Mike is concerned - don't misread the not worried. Mike is not a worrier - he has concerns that he feels can be addressed and dealt with, he lives in the present and actual - unlike me who has a mind that wanders and fingers that like to type in Google for all things that may affect us. I am so grateful for his concerns and not worries, I am blessed immensely by the balance he brings to my life.
The neurologist and I talk a bit more, mostly I am trying to wrap my head around what he is telling me at this moment. I asked for more clarification, he says that most likely we are looking at an autosomalcraniosynostosis but not that he is certain about that. Mostly he wants to ensure that we have some scans, tests done and follow up. He hands me a script with a prescription for her hydro chloride for her EEG that we'll schedule when we check out, a sheet to take to the lab, not the base he says and not another commonly used lab but this specific lab. I ask what blood work is being done, he wants a chromosomal high resolution test, another micro chromosomal test of some sorts, and 2 other panels. He also tells me that they will getting authorization for an MRI and we should hear about in a week to have that scheduled as soon as possible. So I walk out, with 4 pieces of paper and my head and heart swimming. I schedule an EEG (which is a 90 minute test to check for seizure activity - I had to ask). The script is for the medicine to help sedate Addison for the EEG (she's had this before for ABRs in Omaha so that was at least familiar).
So I left, I called Mike with teary eyes and feeling somewhat overwhelmed; yet at the same time we both felt confident, assured that everything will be okay. We do not know where this journey is taking us, but we do know that God is always with us. Our families will be there each step of the way, our friends too. We know that as hard as it is for us to really comprehend that God loves Addison so much more than we do. God has big plans for our little girl, we know that and we know that God is going to take care of all of us. We feel blessed to be on the road to finding out more answers and being better prepared and equipped to help Addison meet her fullest potential in life.
So that's it in a very large nut shell...I will update on what specific things are as we know...if you google microcephaly there's a very extensive list of causes and connections to syndromes...it really isn't too helpful. But basically it means she has a small head (apparently her head is about the size of a 6 month old...which just is surprising because I don't seem to notice it, it seems proportional to her). We will take all the prayers we can, and if you have any questions we'll take those too - may not have any answers for you but we won't mind the questions. Right now we're also feeling blessed by just how well Addison is doing, she's really not "delayed" at all (very little speech wise...but we aren't surprised by that) and mostly that she's such a happy, happy girl!