Still waiting...

A friend text me and said she had been watching my blog for an update on Ava (thanks, Tracey! :) ).  I sometimes forget that my blog readers are not all on Facebook where I update with small things here and there.  So let me update on Ava's appointment that I talked about in the last post.

The appointment went well.  We really liked the doctor.  She listened to what we had to say and worked with us to talk through possible scenarios.  Overall, the appointment was good...except that the reality that we may never "know" what is happening with our sweet girl.  The doctor didn't really think that she has Fragile X, but there are enough symptoms that warrant testing for it.  There are a couple of other genetic disorders that she has symptoms of, so we are starting with testing for those things.  If they all come back negative, then we will move to whole exome testing.  And we can't start any testing until we get insurance approval, which is where we are right now....waiting on insurance!
One really great blessing is that we found out that the testing that runs $10K-$15K can be done for about $300 out of pocket with some funding that is available since this is all fairly new research and testing as things go in the medical world.

We appreciate all of the prayers and those following her story!  I have to say the whole experience has made me press in closer to our Maker and listen for what Ava is created for in order to equip her in the absolute best way possible for what God has for her!  Because no test results will change one thing that we already know, she is made exactly how she needs to be made in order to do what God has for her to do for His Kingdom and to bring Him the most possible glory!

Our Ava

Tomorrow is the day! We have waited two months for the appointment and Ava's lifetime for the answers. We haven't shared a ton about our miss Ava.  Mostly because we have never really known what there was to share.

At the park!

She was born at 37 weeks due to me having a potential for blood clots.  For those who don't know our family well, she is one of our biological children.  So her pregnancy had no drugs, no alcohol and no trauma.  Of our nine children, she is one of the least likely to have any "issues" based solely on her start in life.  Yet, from the beginning she has had a bit of a struggle.  She wasn't too interested in breathing those first few hours and was under an oxygen bubble for the first 36 hours of life.  Then a newborn screening came back abnormal. But the second one was normal.  There were no symptoms or signs of anything happening, so we continued on with our healthy baby girl.  Our pediatrician was always a bit concerned.  However, he was the glass half empty guy, and I was the one pointing out it was half full.  While I always appreciated his aggressive desire to ensure all was well, I also was quite certain from how my baby girl was doing that he was concerned for no reason.  It wasn't until the delay in her walking that I wondered if his concerns were valid.  Then there were the times that she played alone...too long.  I would talk to family about my concerns, but everyone dismissed them with simple explanations.  I would tuck them away and tell myself I was being paranoid.  Those who know me well know that I have zero memory!  It's why I really NEED to scrapbook!  But when I do have a memory, it is very vivid and usually significant.  It's like a snapshot that needed to be recorded for future reference.  I have one of those memories about my Ava.  When she was about 18 months old, I took all three kids to the park.  We were there about 30 minutes.  The entire time we were there, Ava would walk up the three steps on the jungle gym, walk halfway down the walk way, turn around, come back the way she came, down the stairs, then turn around and do it all again....for 30 minutes!  She never left to go swing, she never left to go to the slide, she never left to dig in the sand.  Just the same motion over and over.  Again, I expressed my concern to John and my parents.  I was most certain there were some signs of her possibly being on the Autism spectrum.  Although at that time is when Autism was just beginning to be a household name.  No one really felt my concerns were valid, so again, I tucked them away.  Then there was the way she rarely looked at a camera when we would take her picture.  She will make eye contact with you to talk to you, but as soon as you put up a camera, she will divert her eyes many times.  Maybe just a quirky thing she does? Maybe a sign of something more?  

Ava at about three years old

 Her language didn't seem to develop quite as quickly as it should have.  Then there was the broken arm just before she turned two that happened from a simple fall from the couch.  All of it along with a larger head circumference and extremely long fingers and toes always made our pediatrician a bit concerned.  Around age 4, it became more evident that there were some physical limitations.  I found myself constantly reaching out for her as she often lost her balance resulting in a fall.  She was unable to stand on one foot and balance.  Yet therapy was not making much progress. We had an MRI that came back normal.  Dr. Nabulsi said he wanted us to go see a neurologist.  So off to Fort Worth we go.  We would learn of a disorder that seemed to fit her symptoms.  We scheduled a spinal tap and returned for the procedure a few weeks later.  The results came in as inconclusive.  However that did not rule out the diagnosis, and the doctor along with John and I felt it was more likely than not that she had Depo Responsive Dystonia.  She began taking medicine that is given to Parkinson's disease patience.  We saw a decrease in her stumbling and falling.  It appeared that she her speech was a bit easier to understand and came more readily for her.  And that was the "real test" we were told of whether or not she had the dystonia.  If the medicine worked, then it was for sure the case.  We were so thankful we had found it.  Many children are misdiagnosed with cerebral palsy and ended up in wheelchairs until the correct diagnosis was found.  Then with the medicine, they were back to normal function.  We thought we had our answer and proceeded with life normally.

 It was evident from the beginning that Ava marched to her own drum! She was an extremely happy and compliant child!  She rarely ever, and still to this day, rarely does get in trouble.  She has an incredible connection with God!  I am jealous at times at the way she believes and the faith that she talks about.  She accepted Jesus as her savior on her own...I asked her if she had thought about it one day, and she laughed and told me she had done that weeks ago at church during worship when God had spoken to her! Got to love a testimony like that!  Just a few months ago, she was walking down the stairs and got about  halfway down before turning around and running back up to me in the playroom with an excitement that was exuding from every part of her being yelling, "He touched me!  I was walking down the stairs and God touched me on the shoulder!" While reading that, you might doubt the validity, seeing the glow in her eyes when she said it left no room for doubt that in fact, she had been in the presence of God!

After moving to Fort Worth, her second grade teachers revealed that she had absolutely zero ability to comprehend math.  Its a long story that I really should share some time, but I am so thankful for these teachers!  It was with this information that we began again searching.  I always felt in the back of my mind that there was something else! There was something we were missing...call is mother's intuition or  God's prompting, but I knew we needed to keep digging.  But our neurologist was a bit dismissive.  Diagnosis were thrown around here and there, but nothing that we could nail down.

Then one day one of my perspective adoptive moms called me to talk about a file she was reading for a potential placement.  In the file was a genetic disorder that I had never heard of.  Normally, I do not stop to look up those types of things on the cases unless I am pretty certain that placement will happen. That did not seem to be the case this time but for some reason that can only be explained as the hand of God, I stopped and googled "Fragile X Syndrome".  As I read through the symptoms, it was as if someone had been in our home for the past few years keeping a journal on Ava.  Tears began to fall uncontrollably.  The first emotion was joy and satisfaction!  We might FINALLY have a definite answer to what is going on with our daughter.  But those emotions quickly turned to dread and fear as the reality of what that diagnosis means.  I guess as long as you don't know, there is hope that it's just late development.  There is hope that it's all just coincidental and in the end, it's all going to go away and she will be "normal".  But with a diagnosis, those hopes fade quickly.

Tomorrow is the day that we go to talk to the geneticist about Fragile X.  We will have the testing done and wait for the results.  Can I be honest? I don't even know how to pray! Of course, I want the results to be negative because NO ONE wants their child to have an illness...most definitely not a genetic disorder that could mean a much different future than you had dreamed for your child before you knew of the words that now hold so much weight: Fragile X Syndrome.  But a negative test result will not automatically erase all of the symptoms that have us searching for answers! And we need answers! Ava is an amazing little girl who brings joy to anyone who knows her!  She says good morning by name to everyone she passes in the school, and they smile back with a "Good morning, Ava!" But she is starting to notice that she doesn't exactly work like the other kids.  She is beginning to notice that she is a little different.  We champion different in our house! But my words of encouragement as a mom, I know all too well, will only carry so much weight the older she gets and the more defined the differences may become. We need an answer to give her! We need to be able to tell her "this is why" you work this way!

So if we come to mind, pray for us! Most days, it doesn't even cross my mind.  But then there are moments like the other day when I came across this picture.

And looking into that sweet face sitting in front of me, I was overcome with emotions and a desire to go back to this day!  We didn't know anything was wrong here! We had no idea that we would one day be wondering what the future held for our baby girl.  We had no idea of the struggles she would be facing even as an 8 year old.  I just wanted to go back to the innocence and to some extent ignorance.  

But despite what the test results say, this I know. Ava Claire is fearfully and wonderfully made by God Almighty!  He knit her together in my womb for His purposes! He has a plan and a future for her that is good and prosperous! It may not look like how we thought it would look, but it is full of His purpose and potential for His glory all the same!  And when He knit her together, He put a determination in her like none that I have ever known and certainly never seen in a child of her age! It has served her well....and makes her an inspiration to just about anyone who knows her! And He had held her closely, for what I have no doubt will be a lifetime of her using whatever challenges she has to bring her Creator even more glory!