So I’m sure you might be wondering why I only have 1 page highlighting 1 of my children…and no it’s not because I’m playing favorites….and no it’s not because you won’t hear ALL about my other 3 on the blog but it’s because Hattie has a gift to share with the world.  Hattie Kelley was born on August 2, 2016 with guns a blazing and has kept us ever on the edge of our seats since.

Hattie’s pregnancy went along smoothly until close to the end when momma started swelling and I mean SWELLING.  The swelling led to leg pain which then led momma (reluctantly because medical people are THE BEST patients…ask my OB) to develop a blood clot in her leg while laboring early at 37 weeks.  This meant HAPPY BIRTHDAY HATTIE!  To not put into details it was painful, it was long and then little booger wouldn’t come out….which seemed a little odd since she was my third…but she finally popped out.  She had a soft high pitch cry….she was breathing really fast and grunted the whole first day. Because she was almost 9 lbs at 37wks she kept having to get blood glucose testing.  She was having a really difficult time latching…like not latching at all after me trying all the tricks being a nursing mom for the 3rd time.  We went back and forth on whether she needed NICU (went meant transfer) or could stay – They finally that night took her to watch her in the nursery for closer observation. She continued to breath really fast throughout the night and was about to be transferred until I was allowed to come in and hold her for 3 hours (sobbing and praying the entire time) and it worked. We found out quickly after that – that she had a broken collar bone and me holding her provided her comfort to calm her breathing. But of course she still wouldn’t latch and couldn’t tolerate the bottle,  so jaundice came next.  She received light treatment at the hospital and stayed an extra day. I knew something in my heart that something was off – something was different but in all the exhaustion I couldn’t put my finger on what it was. Our whole first month was a blur between struggling to gain weight, trips to the hospital for labs every other day – the back and forth of whether she needed admission for failure to thrive.  By the grace of God and an amazing church, James was able to stay home during this whole month of chaos and keep me sane.  Oh and I forgot to mention we moved, then I had postpartum hemorrhage and needed a surgical procedure 4 days after birth.  Then I also had to be on lovenox injections 2 times daily for my blood clot in my leg…..You get the picture (Below is the worst picture but best picture to describe our week post birth…Battlefield!)  

At 4 months is when life REALLY caught up and all my fears and sleepless nights of feeding a newborn not latching well or gaining weight every hour came to a head.  The day before Hattie’s 4month appointment I thought to myself….hmmm self, your baby is not moving much… nor holding her head up…your baby at 4month I think should be doing these things – my gut feelings were playing out in real time.  While my older two were napping, I started to walk her through a few milestones (after getting my pediatric diagnostic book off the shelf and dusting it off) and quickly realized Hattie wasn’t meeting any of the motor milestones.  My heart sank, I called James to let him know that I was concerned Hattie’s appointment might not go well…He assured me I was nuts (lovingly) but said we shall see. You see He is the forever optimist.  At the appointment I mentioned she wasn’t moving and still not latching well.  My pediatrician at the time (seriously I loved this guy) picked it up right away.  He wanted her seen by neurology due to her hypotonia (low muscle tone – also known as floppy baby) right away and immediately referred to physical therapy and ophthalmology due to her nystagmus.  We called a dear friend in Birmingham who is an adult neurologist and he immediately referred us to Childrens Hospital. Hattie had an appointment in 2 weeks – Praise the Lord!

Short bit on Hypotonia – well there’s not really anything short about it but here it goes.  Hypotonia is a symptom that goes along with A MILLION different diagnoses.  Hypotonia is NOT muscle weakness it is poor muscle tone. It is either a problem with the muscles themselves (peripheral cause) or a problem with the communication pathway from the brain to the muscles (central cause). It can be benign and resolve with just delayed gross motor developtment or it can mean serious life threatening disorders.  Depending on the cause, hypotonia can improve, stay the same or get worse over time.

http://www.nhs.uk/Conditions/hypotonia/Pages/Introduction.aspx

So fast forward to 20 months.   After many visits to different neuromuscular specialists from Baltimore to Birmingham, AL we recieved a diagnosis on her most recent whole genome testing. She does have gene mutation at RYR1 -which can be linking to some peripheral muscular disorders but is not what is causing Hattie’s congenital hypotonia and global developmental delay.

                 

Hattie has a denovo gene variant on GNB-1.  So in laymans term she has a genetic disorder called GNB-1 that is ONLY in Hattie.  It affects the communication pathway to the muscles and that’s why Hattie has random muscle control because occasionally her mind communicates effectively with her muscles.  It was only recently discovered in 2016 and <100 patients worldwide have been diagnosed with this.  Its diagnosis is consistent in all patients with Global Developmental delay, Intellectual Disability and Congential Hypotonia.

At this time there is no treatment nor cure.  Dependent on the different gene variants these patients have – There is a wide range of other issues that come with this genetic disorder.  The denovo part means that it did not come from either James or I but is brand new in Hattie and more than likely was a miscoded gene in either the sperm or the egg. There is a link to a new page at the top discussing GNB-1 and a link to the foundation.

Hattie has had this since birth.  Her muscles with the lowest tone are central and that is why she has a hard time with moving her legs/arms against gravity.  Hattie also has a weak suck/weak facial muscles.  With much effort from mom (whew), she was able to successfully nurse until 8 months but due to poor weight gain we transitioned to bottle in order to count her calories (no there isn’t an app for that but mom got creative!) She has best friends in her Physical Therapists, Occupational therapists and Speech Therapists. She has been with her PT Holly since 4 months and continues to make great progress.  She got her fancy new wheelchair last summer 2019 after James had made her a homemade bump wheelchair and her independence has taken off.  I often have to find her in the house because she will wonder from room to room (LOVES to pull out clothes from drawers).  

               

           
She started OT/Speech at 8months and 
loves her Occupational Therapists, Courtney and her speech therapist, Mia just as much.  Eating has always been a struggle but is getting SLOWLY easier. She is still on a modified soft diet and we have to watch her closely with new foods as she can still choke occasionally.  

Hattie started VPK-D this year with our local school system after officially going through the IEP Process.  This was all quite terrifying for us but we felt the Lord was leading us this direction and it would be great for Hattie.  He met our expectations and needs AND THEN some.  Hattie is a social butterfly – she loves her teachers and her friends in class.  When we bring her to school in the morning she greats all the staff with waves and smiles.  She gets to ride the school bus in the afternoon which according to her bus ladies she LOVES to put her hands up like a roller coaster ride.  

 

We pray that Hattie will be that medical miracle that meets milestones no one sees coming but if not she is the greatest joy just the way she is!  One thing Hattie ALWAYS does in the car is put her hands up, she laughs and thinks its funny and we sing the rap song All I do is win “Our hands go up…and they stay there”- and Hattie laughs so much we made it our blog name -Our Hands Go Up in ALL things because we know that we are not in control and ALL things are done for our good.  We rest in the peace of knowing that He created us all to be innately different, He perfected us in our identity  and we hit the jackpot with our family circus. #TeamJetton #JettonFamilyCircus