Can you say "Pincushion" ...

I try to be a very thorough person, medically speaking, with my little guy.  Sounds kinda of harsh, but with us maxing out our "deductible" this year because of his hospitalization in February, I'm trying to fit all the puzzle pieces together now so we can minimize our personal financial responsibility.

Today my son saw the Immunologist/Allergist.  After three back to back to back viruses since mid-May, I suggested to my pediatrician that maybe we need to dig a little deeper into this immune system thing.  Mainly because Noonan Syndrome can also manifest itself by way of a compromised immune system.  Rather figure this out now, then after sending him knee deep into the petri dish - called school.  (In his case preschool.)  I did some research, as much as I can with the limited availability to medical journals - but I ran across an article "abstract" indicating that it appears there may be a connection between a compromised immune system and platelet function.  The pediatrician remembers seeing or hearing the same thing and thought it would be wise to add the Immunologist to his docket of doctors.  It wouldn't hurt to have him tested for allergies too, to rule out "all these upper respiratory bugs" as allergies before coining my son as a "child that gets sick too much".

I pretty much thought today would be a "consultation" day and we would have to come back and have any "testing" done at the next visit.  I never prepped Donovan for any of what was going to happen today, because I had no clue what to expect today.  So sad when my child tells me after I tell him we have a doctor's appointment: "Mommy, my tummy doesn't hurt, my ears don't hurt."  In other words, "Mom, I'm really fine, no need to take me to another doctor!".

So we get to the office a little early, luckily I had a snack for Donovan in my backpack so he sat quietly watching T.V. and ate his pretzels and raisins.  We finally get called back, which includes a height and weight check.  He did gain a whole pound in 2 weeks - yippee!  The height is always so hard to measure because he slouches when they bring the "shelf" down to measure him.  So I never take what they give as gold.  I know he has grown!  Even if its just a little bit.  We go back to the room and wait for a bit and the doctor finally arrives.  We come to find out that they sent the child that was to have been seen after us before us.  So the doctor said we had the rest of his morning.  Bonus for us I guess!  He took a history of Donovan.  Listened to my "crazy mom" concerns and validated them.  At least, he attempted to validate them.  His first thought is maybe Donovan needs to have a complete sinus work-up - x-ray and CATscan of the sinuses.  Given his slight malformation of the right side of his face, the sinuses could be feeling the effects, even if the malformation is so minute!  One thing I never considered and one thing the ENT never mentioned.  Interesting!  He also felt we needed to rule out allergies.  Allergies could be the reason why he appears to "catch colds" so often, even in the warmer months.  He said he can do the "allergy testing" today.  Ughh.  I had no idea they would do that today - wasn't on my brain and I never shared this "idea" with Donovan so I had to quickly explain what they were going to do.  He was not pleased, and I certainly didn't blame him one bit.  I saw what Norah went through in the spring with the scratch test and I certainly didn't want to do this to my little guy.  But it was the right thing to do, eliminate allergies from the game board!  The doctor also noticed that it indicated in Donovan's file that he might be allergic to amoxicillin - so he said he could test for that today too.  That would require 5 mini-shots in the arm.  Great!  Donovan heard shots and freaked.  Then the icing on the cake was more blood work needed to be drawn to see how his immune system was responding, generally speaking.  Sigh

We enter the "testing room" and Donovan just sobbed.  Crying that he didn't want to do this testing, poor little bugger.  I truly felt so bad.  Turns out he handled the testing well and no allergies.  So very good news.  Once the scratch test was completed they applied some numbing cream to the crooks of his arm where blood is typically drawn from and placed tape over it.  Then they went ahead and gave him the 5 dreaded mini-shots to rule out the antibiotic allergy.  That came back negative - more good news!

Our last and final task was to get the blood drawn down at the lab.  Donovan hates doing this, and I so don't blame him one little bit.  He was poked and prodded so much in February that I think he has been traumatized.  I was and I wasn't the person being poked and prodded.  Today, bless his little heart, after Jon explained all the things that he endured in the hospital back in February to the doctor, Donovan told the doctor "he had a tube in his nose".  My heart sank when I heard him say that.  He hasn't forgotten one moment of his hospital stay.  He remembers details.

Anyway, he did the blood draws and was a trooper even though I know the techs were annoyed at having to remove the tape from his arm and then draw blood from a small child that was crying hysterically, but they actually did a great job and only had to attempt to stick him once! This information will take about a week to 10 days to get.  So on with our normal lives and hope all is well.  My gut tells me that there is something that isn't right, it might just be minor, but I don't have a strong feeling that the doctor is going to say all is 100% normal.  In some ways, this might be good news if they can connect the platelet function issue to an immune system issue.  Then we'd know better as to what we are dealing with.

The best case scenario would be that his tests come back normal and he's just a "normal" kid that just needs a few more viruses to kick that immune system into high gear!

I feel so badly that I had to put him through all of this.  It was the first doctor's appointment where I questioned whether or not I was doing the right thing.  Was all this really necessary?  It may all come back that it wasn't necessary - but if we didn't do it and years down the road we find out that he did have an immune system issue then I would kick myself for not being more proactive.  Like when I didn't have him tested by a hematologist because he didn't appear to overtly have signs of a bleeding disorder.  We then find he does have a bleeding disorder after a simple procedure goes "complicated".

When all is said and done, I may very well write a book on how to handle a child with Noonan Syndrome and all the ins and outs and ups and downs that comes along with this crazy gene mutation.

Donovan's opthamologist said it right last week after I said to him Noonan Syndrome is such a complex medical genetic disorder  - he replies back "And yet the more we know about it, the more we realize we don't know enough!"  AMEN TO THAT!