August 23, 2012

Post 9

Looking back, it all makes sense now.

All the pieces of the puzzle are coming together and forming the picture that is Costello Syndrome.

Every time I turn around it seems there is a new challenge to face. Just when I get use to one issue, low and behold, there’s something new that emerges. I remember asking medical staff if there was anything we could do to look at his airway. Yes, I remember asking about it many times the first few months of his life. What prompted me to ask for this kind of exam? Well, remember he wouldn’t eat? We couldn’t figure out why.  Everyone kept telling me the milk was too thin, or I wasn’t holding my baby properly during a feed.  Remember? Because I certainly do. I remember how inadequate the staff made me feel. Nurses telling me I had to work at feeding my baby. So, here we are, five months later and it only took 4 times for my son to stop breathing before someone, other than me, started asking questions. Only 5 months and 4 blue spells before his airway was ever looked at.

Finally, he underwent a laryngoscopy (a medical procedure that is used to obtain a view of the vocal folds and the glottis) and bronchoscopy (a procedure that allows your doctor to look inside your lungs' airways). The exam revealed he had significant subglottic stenosis (a rare condition in which the airway narrows because the airway cartilage did not form normally in utero). He was born with this deformity, and now we knew why he couldn’t breathe at times and why he struggled with eating.

To date, his symptoms since utero are excess anionic fluid, various heart issues (ectopic atrial tachycardia & atrial flutter), ulnar deviation of the wrists and fingers,
 tight achilles tendons and now a deformed airway.

Lots of research, questions and confusion; but still no results from any genetic testing.

Something had to be done about his airway. The plan was to perform a tracheotomy. The hospital staff explained to me that this was our ONLY option. They gave me a packet of information, a video to watch and told me I would be sent to a nursing facility with my son for thirty days to learn how to care for the trachea tube. I was even invited to meet a family with a child on a Trach. I declined. I didn’t want to meet the family. I knew what we were in for. I’d prefer to just deal with it head on. I felt like going to meet this family was like sealing the deal. Our nurse kept telling me I should go so that I could see that having a child on a Trach really wasn’t that bad.  What?  Wasn’t that bad?  My thoughts kept reverting back to the time I thought a G-button was so awful.  The G button was a mere walk in the park compared to what was to come.  I once referred to it as “that darn button”. Now, I’d be saying “that darn Trach.”
No, I can’t just accept that my son would have a Trach.  I wasn’t ready to fold, not yet. I still had questions. A majority of the time Gabriel could breathe on his own.  It was just random moments when his air would be cut off. The rush to perform a tracheotomy seemed lackadaisical. There had to be another way.  I met with an Ear, Nose and Throat (ENT) doctor to discuss my concerns.  He was very warm, friendly and incredibly patient. He told me this was this only way.  I took a deep breath looked him in the eye and told him I would not consent to the tracheotomy and to find another way. He gave me a quick head nod then left the room.  I sat there alone for several minutes, left with only my thoughts. Was I in denial?  Was I demanding something that was dangerous for my baby?

Our nurse entered the room. She asked me how things went. I told her what I had said to the doctor. She then looked me in the eye and said, “He doesn’t need your consent to perform the tracheotomy, he will do what he thinks is best for your son.”  I never felt smaller. I knew she was right, but I couldn’t silence that little voice in my head telling me to fight this one. I needed reinforcement. I called on my family for support. We decided to request a more formal meeting with the ENT.

Early morning the following day, I was awaiting our scheduled meeting. I sat in a chair at Gabriel’s bedside and read to him. A woman, whom I have never seen before, entered the room. It was apparent she was a doctor but what type I wasn’t sure. She wore a white lab coat and had a very matter of fact disposition. She looked over Gabriel she examined his hands. She then asked me  questions about how the pregnancy was with Gabriel. She asked me if I had excess anionic fluid. I wasn’t surprised by the question. 
My pregnancy with Gabriel had been extremely complicated and I had now learned about the possible outcome to my symptoms.  I knew that excess fluid was not common, but when present, often suggested poorly controlled diabetes, twins or gestation cleft pallet as well as a long list of syndromes.
I was already told that my son had a syndrome. What was she getting at?  She asked me a few more questions about my family history as she continued to look Gabriel over. I answered to the best of my knowledge. I explained that Gabriel had molecular genetic testing done several months ago with no conclusion. But time was up. I told her I would have to leave to attend a meeting with our ENT.

Gathered around the large table were my parents, Gabriel’s father & his parents, and the doctor.  
None of us wanted Gabriel to receive a tracheotomy.  We all agreed we wanted a second opinion.  But, what kind of a risk are we taking by waiting on that second opinion? Our ENT doctor listened patiently as we hashed out every aspect of the issue.  He gave a surprising response. He told us he had contacted some of his peers and did some research.  There was a procedure referred to as “balloon dilation.” 
This procedure could possibly reshape the airway.  This balloon is to be inserted into the airway
then inflated.  The hope is that inflation of the balloon will open his airway. If this proves to be unsuccessful, then they would go ahead with the tracheotomy.

 I agreed with the plan and the surgery was scheduled.

Gabriel was taken back to undergo the balloon dilation procedure. All I could do was sit and wait. I tried to prepare myself for what I might see. He would either come out with a better airway or I would see my baby for the first time with a trach tube in his throat. I was surprised as to how fast the procedure went. Gabriel was in and out in under an hour. The ENT surgeon approached me with a grin on his face. He told me he was pleased with how easy Gabriel's airway popped open. I was thrilled, but he cautioned me that his airway could still collapse at any time. He told me we might possibly need to come back and get this procedure done several more times before his airway holds open.
If it collapses several times more, we would then consider surgery or the trach as an option again.  For now things are good and stable for Gabriel

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