On Thursday July 24, 2014, our family was about to be blessed with the presences of baby number 2! My pregnancy was nothing out of the ordinary besides a few minor things while Claire was in my belly. I love being pregnant. I could tell this pregnancy was a tad different/harder. But, I credited that to running around after my 2.5 year old in addition to the pregnancy.
Claire however at 37 weeks was showing to be IUGR. A portion of the body is measuring different from the rest. Her abdomen was behind by 3 weeks measurement to the rest of her body. She was also a two-vessel cord, which normally a baby has 3-vessel umbilical cord. This allows for better blood flow and nutrition from mom to baby. Due to these two little factors, my OBGYN thought it would be best to deliver at 37.
That first night of snuggling our new addition was priceless. You relish in every little move and sound they make. You are in awe that you could love something so much. How this child has made your existence on this earth that much more special! Everything was as planned.
I just knew something wasn’t right.
The next morning (Friday) our pediatrician came in to check on Claire, to see how things were and project when we would be going home. Praise the Lord he came in when he did! It was definitely a God thing he came in when he did, otherwise we would have probably been sent home as normal. As he laid Claire down to check her out, she started some cycling movements with her arms and legs. I had been seeing a little bit of that this morning but was not sure what to think. So I let him know, “she has been doing that a little this morning….is that a seizure.” He did think it was and he wanted to take her down to the NICU to get a closer look, and run some test.
Several hours later, our pediatrician came back to our room without Claire for a discussion. I remember it like it was yesterday. Where he sat, the look of worry, the gasp of breath he let out before he told us the news.
We were about to have news that would change us forever.
After blood work and a few scans, she showed to have an extremely low blood sugar (17, normal is 60-120) and pockets of blood on her brain. Little did I know that would be the start of a month long NICU stay between our home hospital and Cook Children in Fort Worth.
Our pediatrician let us know that she was going to be flown to Cooks that day. I unfortunately could night fly due to just delivering. So as hard as it was, I left Claire in the NICU and started on the drive to Fort Worth with my husband and mother. I wanted to go ahead and go so when she arrived we would be there. This felt like the longest wait. My closest friends stayed watching our sweet Claire through the NICU window (rotating shifts) for what seemed like a whole day. She finally arrived the next morning at 5am at Cooks.
After a few weeks of blood test, spinal taps, CT and MRI scans, feeding tube and a million IVs (or so it seemed) the doctors had an answer. Claire had hyperinsulinism which was refers to the above normal level of insulin in the blood of a person. Basically, her body over produces insulin, which eats up her sugar extremely fast in turn making her blood sugars severally low. Through medicine and constant monitoring of her bloods sugars, they were able to get it under control. She would eventually outgrow this issue, but it took much longer than expected. Most children out grow around 7 months, but with Claire her timeline is little slower. She out grew and was able to be weaned off medicine around 24 months.
We were able to come home 28 days after a NICU stay, Praise God. We were extremely thankful for all of the doctors that were on her NICU team and we continued to be blessed to have some of them working with Claire’s condition over the next couple of years.
Once we got home!
At 5 months Claire was showing continued signs of developmental delay. At 5 months old Claire could not even lift her head to turn it to face the other side if on her stomach. Doctors decided to test all three of us for chromosome abnormalities. Her genetic makeup showed that she had a “Unbalanced Translocation” which came from Scott’s genetic makeup. Scott has a balanced translocation which doesn’t effect him- we know now. What Claire’s genetic testing showed was that she had two rare genetic disorders. Those being 9p24 deletion otherwise known as 9p-, and Trisomy 10p. Both of which deal with developmental delay and muscle tone issues. You can read more on Claire’s development here.
In June of 2017 Claire’s pediatrician and Neurologist decide to classify Claire and diagnose her as Cerebral Palsy (CP). Claire started therapy, Physical and Occupational therapies 2-3 times a week since 5 months old. They are pretty much like family and not sure where we would be without them. Praise God for those miracle works. We started speech therapy with Claire at age 2.
Let’s talk a second about “googling”. This is so hard NOT to do when you find an issue wrong or decide to self diagnose yourself. Ha! I am partly a hypochondriac. When I think there is something wrong I get on the search engine— we all know we shouldn’t do that! So when Claire was diagnosed one of the first things I wanted to do was connect with the right information. Rare chromosome disorders are hard to understand because they are so rare and there’s not much information on them.
Through a great case worker at Cook Children were were able to get connected to the UNIQUE. This a Rare Chromosome Disorder Support Group. They had info regarding the range of what we might be looking at for Claire’s future.
Now here is something else we had to understand.
Every child is different!
Each disorder or condition can have a range and no one child is the same. This is the hard part to understand. But with most diagnoses it’s not black or white. So the best thing we can do for Claire now is to get her the means to help her thrive.
