Its Unofficially Confirmed

Yesterday wasn't a very good day in the Hyman house.  I often feel like this is the "norm" for our lives.

We woke up early yesterday morning to take my son to the cardiologist at the main campus.  This was one of those appointments that the cardiologist grants when the parents are worried about something and not sure if "worry" is warranted.  We were the first people at the office and we were in and out of the echocardiogram and EKG testing fairly quickly.  However, we spent way too much time in a musty smelling exam room with the door closed waiting for the doctor to discuss the results - I eventually opened the door due to feeling claustrophobic and wanted to make sure someone knew we were still waiting to be seen.  His pulmonary valvular stenosis (PVS) hasn't gotten worse since February but she did detect a possible other issue with his heart.  He's got some thickening going on in the left ventricle, which apparently isn't uncommon with people who have Noonan Syndrome.  So I add another "worry" to my already very full "worry bag".  The cardiologist also said that she's pretty confident that my son will eventually need a procedure but wants to wait until such time that he does need it.  However, she wants to see him anytime we feel something isn't right and to not hesitate to call.  Essentially reading between the lines, she was ultimately saying don't feel like an idiot for calling over something little!  So that's comforting.  She doesn't need to see him until January 2012 (roughly 8 months) so that's good news I suppose.

Since we were down at main campus, we also planned the "dreaded" blood draws for my son too.  I needed to have some blood drawn too, just as a matter of formality from my "physical" several months ago.  The doctor was okay with me waiting until such time my son and I could do this dreaded task together.  It was something I promised my little guy I'd do when he was being pin-pricked for days in the hospital.  I told him the next time he needed blood drawn that Mommy and Donovan would do it together.  We could be brave together and hold each other's hand.  Yesterday was that day.

My son's hematologist had ordered a huge blood draw to determine what was going on with his platelets.  He has plenty of them, but they aren't necessarily functioning optimally.  So this is what we think may have caused his hematoma post endoscopy biopsy.  Since there was so much blood to be drawn, we had to get clearance that it was okay to remove over 14 cc's of blood from his body.  He's only 25 pounds and some change and the standard protocol was 10 cc's.  So we decided that I'd go first while we waited for the approval of his blood draw.  We walk into the room, my son grabs my hand and says are you ok Mommy?  I said I think so.  He asks me if I'm going to be brave and I said yes.  So the girl ties the band around my arm and I can see his eyes get really large and the worry line on his forehead.  Apparently, he still remembers all the needle pricks of February.  I hate getting needles stuck in my body so I had to be really brave and keep a poker face.  He held my hand really tight and all the while told me I was being brave and he was so proud of me.  Warmed my heart!

An hour later, after they had sorted out the whole quantity and the number of blood tests they could perform in this blood draw sitting, my son and I finally go back to the "pediatric" blood draw room.  I had to hold his arm and then held his hand while he sat in my lap and I had a bear hug him.  He cried and screamed, but not ouch or anything like that he kept saying over and over "are you proud of me Mommy, am I being brave?"  I felt so bad for him, as they had to draw roughly 10 vials of blood from him so it took a little longer than "normal".  However, he was such a trooper and when it was all done he ran down the hall to his Daddy and told him he was very brave!  I was very proud of him.  Its not easy having all these tests run on you as an adult - imagine a little pint size 2 1/2  year old.  He does, for the most part, take it all in stride.  Which breaks my heart.  I just want his little ole' life to be normal.  Unfortunately, he doesn't know much differently, so this is "his normal".

Our clinic gives us the ability to see lab results once posted on our private electronic "chart".  So my husband got an email saying some results were in.  The CBC results were the first to be completed and it was all in normal range - so that was good.  However, a couple hours later the remainder of the blood results that reference the platelet function came back and the news wasn't so good.  Not having talked to the doctor yet, but from reading the report, my son has a pretty significant platelet function issue.  I knew this in my heart and intuitively.  I was sort of braced for the results but no one ever really wants or wills this type of "results".  Its bitter sweet - it looks like we have some answers but it doesn't come without a price - a bleeding disorder.  So my detective work was spot on and I'm pretty proud of myself (as much as one can be in this circumstances) for asking the right questions and getting him to the right specialists.  Although I can't take full credit, my husband is with me along this journey 100% too.  We are a team and we try and put our two "bright minds" together.

So today, I wait for the hematologist to call and explain the results in layman's terms to me.  I'm sure more tests will be required, but we'll have to wait until he can build up more blood reserves - 14 ccs is a lot to remove from a child who only weighs 25 pounds.

I'm sad.  I'm sad because I feel like every road my son turns onto comes with roadblocks or at least bumps.  This may limit his "physical" activities and its looking pretty apparent that my child will not be able to play contact sports.  On the upside, he'll never be "drafted" into combat.  I try to capture some of the bright spots when I can!

So now I spend the rest of my day tethered to my phone, waiting for the hematologist to call with the "official" results.

I know I've said this before, but I'm going to say this again I hate Noonan Syndrome **sigh**.