Wednesday, December 18, 2013

I am NOT your TYPICAL 22Q Baby!

Yesterday was......awful and exhausting to say the least!!

I titled this post "I am NOT your TYPICAL 22Q Baby" because Cohen has defied all statistics and prognoses based on his diagnosis.  For those of you not familiar, which I'm sure is the vast majority reading this blog (don't worry we had never heard of it before him either :)), 22Q Deletion Syndrome is the 2nd most common genetic disorder under Downs Syndrome.  With this being said, many doctors feel it actually may be THE MOST COMMON; however, it is very undiagnosed.  Due to the wide spectrum of issues that can occur with this diagnosis (about 187 possible different issues that is), it is much harder to diagnose if a patient never gets the genetic testing done.  There are many adolescents and even adults that have this disorder, walking around undiagnosed, but struggle through life wondering why they are having difficulty learning in school, struggling to stay healthy (many are missing their thymus gland), as well as a variety of other things.  Because the 187 different issues also have their own spectrum of severity, you could find 2 kids with 22Q that differ in their heart defects, level of immune systems, and so on and so forth.

We were lucky!  They say that the moment a child is diagnosed, the moment their care and life begins to improve.  So knowing all of this information after our 20 week ultrasound was very scary to hear at first.  We were overwhelmed, upset, often resentful of the situation....until we realized....he is our special little man and he will be fine as long as we educate ourselves on this condition and educate our friends, family, and the world.  After researching for month and months we prepared ourselves for the"worst case scenario."  Listing only some of the major things: having a heart defect that would require open-heart surgery immediately/within 6 months, having a low immune system due to a missing thymus gland and getting sick very often, having possible mild facial abnormalities, having low calcium which can cause seizures, having feeding problems, and later on having struggles learning in school (sometimes partial mental retardation).

With that being said, so far our little man has surpassed and overcome almost all of these prognosis!  His heart defect is a "good" defect if you ask cardiologists and could have the potential to close on its own which would mean NO SURGERY..fingers crossed!  He has a thymus gland and his immune blood work came back perfect!  He doesn't seem to have any facial abnormalities and has good calcium!  So it seems like for now his biggest struggle has been with feeding.

The struggle with feeding is very common in 22Q kids because of a variety of reasons:  they are uncoordinated with swallowing and need speech interventions, they could have a cleft palate, acid reflux, or sometimes even have hidden clefts farther down in their throat which would cause them to aspirate fluid into their lungs.  When Cohen was born they checked and did not see a cleft palate, but he has already been diagnosed with some acid reflux.  Which brings us to yesterdays surgery and procedure...

Yesterday Cohen had a bronchotomy and also had a g-tube surgery.  The bronchotomy procedure was to be done to determine whether he had a clear airway and any clefts that would cause difficulty with feeding.  At one point a doctor told me, "this procedure will likely determine whether or not he will ever feed by mouth again."  This comment made me cringe because how could this even be happening?  Wasn't there some surgery or something they could do to help him?  It's 2013!

  The g-tube surgery was going to follow.  This would be to install a small tube into his stomach for us to feed him once home until he was able to hopefully take feeds by mouth.  All was scheduled for 12pm....we didn't get into the OR until....4:50pm!!!  So imagine trying to calm and care for one starving baby since they had to hold his feeds for over 14 hours.  Ryan and I were besides ourselves, often frustrated, crying at some points, because we couldn't give our baby a basic necessity, FOOD!  We tried rocking him, pacifier after pacifier, even this long "vibration tube" that looked like it belonged for grown-ups :).  Nothing worked!  Finally the nurse suggested a stroller walk, so we bundled him in real tight and proceeded to walk him through the halls of the hospital for over 1.5 hours.  It was his first stroller ride at 2 1/2 weeks old and even though it was in the hospital, we documented every minute of it.  We had to continue to trade off, taking turns walking him.   If we stopped, he would wake up.  Now don't get me wrong, I'm not one to coddle babies and do believe they should cry every now and then.  But due to the circumstances and being withheld food for so long, we felt terrible and wanted to make him as comfortable as possible.

At around 4:30 we took the long and scary walk down to the 7th floor.  There we met a handful of surgeons, nurse practitioners, and pediatric anesthesiologists.  They all came into the room, introduced themselves and began talking gibberish to us.  It was like out of the Charlie Brown movies when the teacher is talking and all you hear is "wah-wah."  They were all very comforting, telling us they would take good care of him and not to worry but of course we were wrecks.  When they finally did take him, a huge wave of emotion came over both of us. We grabbed to each other hoping it would not be the last time we kissed his fluffy head.  They walked us to the waiting room where we waited for about 40 minutes...

The ENT doctor came out first and was smiling which made me instantly feel better!  He had found nothing!  This was a huge shock, but great relief because finding something meant a longer stay.  Finding something meant a possible surgery.  Finding something meant my child may never eat like a typical child again.

We waited another hour until the g-tube surgery was over. She also came out smiling and said he did great as well!  We waited for him up in his room.  When he came back he was definitely still heavily sedated but looked great for everything his 2 week old body had just endured.  I knew at this moment that even if he does need more surgeries in the future, he would do fine.  He is one strong little man and can and will withstand anything that comes his way!  He is not your typical 22Q baby!

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