Isabella's Journey to this Point.

Rare disease day is just around the corner 28-Feb-2018, I never thought I would utter those words, let alone be writing a blog about my little girl. But yet, here we are. I would like to share our journey with you on how we got to Isabella's ANDP diagnosis. 

Isabella was born in early July of 2009, years before the discovery of ADNP.  Her birth went like our first two children’s birth. Well for the most part. Everything seemed fine until the nurses started commenting about her color and low heart rate. She was as white as this paper that I first wrote this on. Her heart which should have been somewhere in the 120-160 beats per minute range, but this wasn’t case. We were seeing 17-22 beats per minute. To say the least I was terrified, my wife was none the wiser has they had her hopped up on pain meds. I was given the following reason. Since the doctor had to break my wife’s water, Bella was already so far down in the birth canal he poked her in the head, startling her and causing her to inhale amniotic fluid while in the birth canal. So she couldn’t get her lungs full of air.

This really didn’t make any sense to me as I never really got a good explanation other than that. So I set out to research on my own and discovered that there’s a blood vessel close to her heart called the ductus arteriosus that begins to close as fluid in the lungs is replaced by air. This blood vessel before birth diverts blood away from the lungs. After birth, the lungs need blood to circulate through them. But for first several hours of her young life this blood vessel refused work correctly, causing the drop in heart rate. After she stabilized we thought nothing of it as the doctors and nurses didn’t seem to be overly worried about it.

So, after this set back we were finally able to go home 4 days later, which we thought was little longer than our first two children, but, we were happy none the less. I wasn’t until 2011 that we started noticing that Bella wouldn’t actually look at us or make any “real words”. After her two older sisters were talking by age two. So we set out on a journey that has brought us highs and lows.

The first thing her pediatrician wanted to do was hearing test, she failed it in his office. So off to a specialist we went 45 minutes from home. We met with her and discussed our concerns. So she goes on with test and surprise she failed that one too. So now we are sent to Hearts for Hearing (H4H) in Oklahoma City, where we go through same thing as all the others. After three test with H4H to confirm that yes she has failed all them it was time for the Auditory Brainstem Response. We scheduled the ABR and were fully prepared to possibly have cochlear implants. The news that came out of the ABR was both a relief, she had 100% perfect hearing. But yet, here we were no closer to finding out why our daughter was different. H4H released us from their care, but to this day still call and check on Bella.

We end up back at our pediatrician’s office. We discuss many things at the end of that appointment we are referred to a “Developmental Specialist” in Tulsa, OK. After couple of appointments, we finally get a diagnosis of Autism. Yes, it scared us but we thought hey we have an answer. So we begin down this road, but we have to switch specialists as our first is moving.

It’s now 2014 and we have our meeting with our Developmental Specialist. In this first of many appointments we get hit with not one, but six more diagnosis’ for Bella.  It was a gut punch. But it started to make sense for some of the things she was doing and why she was so far behind. So we set out to help our little girl with all of our strength and resources! The most shocking diagnosis that day was the Microcephaly. It gave us an answer to many of our questions, but gave us many more questions . Doctors wanted to know what form of Microcephaly she had, so off to the Children’s Hospital at Oklahoma University Physicians we went to meet with a team of geneticists we went and their sleep study team as Bella doesn’t sleep much at all.

As we sat and talked with the genetics department they wanted to run a series of tests to determine if the microcephaly was genetic or congenital. It was not genetic. But they knew she had something, but couldn’t put their fingers on it. With her eating disorder, her brain doesn’t tell her she's not hungry anymore. So we opted for the test that looked for Prader-Willi and Angelman Syndrome. We waited what seemed like forever to get the results, to be told she’s normal. At this point frustration has set in our household. We kept getting the same answer there’s nothing genetically wrong.

It wasn’t until 2017 after throwing enough fits that we got a new geneticist that was willing to do the Whole Exome Sequencing! It was an exciting and scary time for us. We were finally going to get answer or were we? We waited almost eight months for that phone call. On Monday Jan. 22, 2018 we got the call Bella was officially diagnosed with ADNP! We had our answer, but many questions still must be answered. So many things now make sense to us about her! As we enter this unknown path we are hopeful yet scared. Please ride along with us and see where we end up!