Our Story

With Rhett turning 6 months old, I felt like this would be a good time to share our journey and our story so far.  First off, it is crazy how fast time really does fly.  It seems like yesterday I was in the delivery room, but half a year has gone by.  And my what a crazy ride it has been.  I have decided to use this blog as a way to educate people on the rare and complex syndrome that Rhett has.  I want to raise awareness for CHARGE syndrome and share with you our experiences that have come with it.

Before Rhett was born, we knew something was not quite right.  When we went for the anatomy scan in August, we not only learned we were having a boy, but we also learned he had enlarged ventricles in his brain.  It is called ventriculomegaly and it means the ventricles in his brain have more cerebral spinal fluid than is normal.  From there we did countless tests to see if we could confirm any possible genetic disorders, but everything came back negative.  From then on, we began to see high risk doctors monthly for  ultra sounds to check on his brain.  His ventricles were stable and the fluid never increased.  During those ultra sounds, the doctors did not see some structures in his brain.  We thought that the Corpus Callosum was missing.  In October I went for the monthly ultra sound, and at that time we learned I had extra amniotic fluid which is called polyhydramnios.  From October until Rhett was born we had to go to high risk appointments weekly to check on the levels of the amniotic fluid, and to make sure Rhett was not going into any distress.  The levels continued to increase, and I looked way more pregnant than I should have.  It was because of the amniotic fluid that I went into labor almost a month early.  Instead of Rhett being born in January like we were planning on, he was born on Christmas Eve.  We spent half of my pregnancy in fear and worry as to what was to come, and the doctors did not have any answers to give us for what to expect.  But we truly were blessed this past Christmas with his life.

Once Rhett was born, things began to progress rather quickly.  I held him for a few seconds before the doctors took him from my arms and rushed him to the NICU.  I knew he was having difficulty breathing, but I did not expect in a million years that he did not have an open airway in his nose.  He had to be intubated since he could not breath on his own.  While in the NICU he received a head ultra sound which confirmed that he DID have his Corpus Callosum, praise God!!  His ventricles in his brain continued to remain stable as well. We knew we had a fighter from the beginning because he fought through every tube that he had on his body.  The doctors and nurses had to keep him pretty well sedated in order for him to stay still and rest.

Three days later, we were transported to the local children’s hospital.  We still had no answers or any idea of what we were facing.  It was there that they realized he might not have an open airway in his nose.  When they tried to put a feeding tube down his nose, it would not go through.  We talked to ENT and this was the first time I had ever heard of CHARGE syndrome.  He said it was a possibility that he may have this syndrome, but by looking at Rhett, he felt it was unlikely.  He seemed to think that this was possibly an isolated birth defect.  We needed to get a CT scan to check on the blockage, and we planned to open up his airway that Thursday as long as the blockage was mostly membrane instead of bone.  When Rhett had his CT scan, we found that his blockage was mostly membrane, another answered prayer!!  That was not all we found.  We could also see in the CT imaging that he had some inner ear abnormalities.  He was missing his semicircular canals which will affect his balance and would likely mean some sort of hearing loss.  With both his blocked airway and the inner ear abnormalities, the ENT now highly suspected he has CHARGE syndrome. 

The night before his surgery, we made a change of decision.  Our ENT felt like it was best to hold off on his airway surgery, give him a chance to grow, and do that surgery at a year old.  He told us that most of the time, kids with CHARGE syndrome have other issues that can affect the healing of his nose and there is a high risk of restenosis, the closing back of the airway.  There was a high risk of multiple surgeries to open his airway if we chose to do it first.  We decided to do the trach surgery instead so that Rhett did not have to go through so many surgeries at such a young age.  

During his trach surgery, they also did an ABR hearing test.  This is how we were able to confirm that Rhett did have some hearing loss.  He has mild/moderate hearing loss in his right ear and severe loss in his left ear.  He wears a hearing aid in his right ear, but there isn’t anything we can do for the left ear.  We are thinking that there is damage to the nerve in his left ear, but we will be able to find more information about his hearing once he is old enough to have testing done in a booth.

A week after his surgery, after the ENT did the first trach change, we were finally able to hold Rhett.  This was basically the first time that I was able to hold him, and the very first time Dale was able to hold him.  It was a long 2 weeks not being able to hold our newborn.

Over the time we spent in the NICU, Rhett worked on learning to eat by mouth and also had a 2nd surgery for a g-tube (feeding tube in his stomach).  After 6 weeks of hospital life, we were finally able to come home on February 4th.  We have been home ever since and have not needed to be admitted back into the hospital one time so far.  That is a blessing in itself because many times CHARGE babies are readmitted several times due to sickness.  We have settled into a nice routine, and the almost weekly doctor appointments are finally beginning to spread out.  He gets therapy twice a week for his hearing and physical therapy.  It is amazing how far he has come.  He holds his head up great on tummy time, but we are still trying to master head control sitting up.  He is also so close to rolling over by himself!!  This is not at all what I expected motherhood to be like, but my how much I have learned!  Rhett amazes me every single day, and I love watching him grow and do new things.  He is truly a fighter, a miracle, and has a story worth telling.  Happy half birthday Rhett!!  Mommy and daddy love you very much!!