Blood

This morning was Finn's appointment to have blood drawn to have a second, more thorough genetic workup done. I haven't mentioned it this week because I've been having mixed feelings about it. A lot of guilt, mostly. Guilt for putting him through another painful procedure, and guilt over pursuing this in the first place - as if we're looking for a "better" diagnosis.

To back up just a little in case you're not following: it's been suggested to us by a number of people, including our pediatrician, Finn's physical therapist, and several lay persons, that Finn appears to be so mildly affected by Down syndrome that it might be worth looking into the possibility of his having mosaic Down syndrome (MDS). I have to admit that when this was first suggested to us, I saw it as a possible "way out" . . . well, sort of, anyway. I mean, it almost makes it sound like "partial" Down syndrome or something.

Anyway, so we met with the geneticist a few weeks ago and she explained to us that based on cost issues, it's routine to only look at 20 cells for a genetic workup to diagnose DS, and if they see the extra chromosome in all 20 of those cells, they assume that every cell in the body has the extra chromosome and the diagnosis of Trisomy 21 is made. She agreed, however, to do a second workup on Finn, and to look at 100 cells this time. We had to wait for our insurance to authorize the second workup, which it did, which brings us to today.

I was nervous about the appointment just because I expected lots of crying from my poor baby who was going to be stuck with a needle and have blood sucked out of him (okay, a little melodramatic, I admit). I had to take Lilah along as well. These things are never much fun with a toddler in tow. First we had to fill out paperwork. Then I was given a pager and told to wait. Lilah didn't want to be in the stroller and was being quite a pill about it, so I let her out. After 20 minutes of waiting, our pager goes off and then I'm told to go down the hall and wait in another waiting room. Sigh. So we go down the hall and wait some more. Finally a male nurse comes out to get us. At this point I have to physically wrangle Lilah back into the stroller and she proceeds to start howling in protest. He takes us back to a little room and asks if he can give Lilah a lollipop. "Yes! Please! Anything!" So she's happy for the time being.

Meanwhile, I take Finn out of the moby wrap and hold him on my lap. As soon as the nurse starts taking out the vial, the needle, the tourniquet, etc., the tears spring to my eyes. I hate this shit. He takes Finn's little arm and extends it out and holds it firmly and places a tourniquet around his upper arm, taps his finger in the crease of Finn's arm a few times . . . and slips the needle in . . . and this guy is good! Finn winced a little, and that was it. Not a cry, not even a whimper, and this guy took a whole vial of blood. When he was finished, he put a bandaid on Finn's arm and picked him up and started talking to him, and Finn just grinned at him! At this point, I'm feeling quite a bit less guilty ;)

So now we wait. I figure it'll be at least a week or two before we hear anything. My gut tells me it's just going to confirm Trisomy 21 . . . and I really feel okay about that. Even if we were told that he in fact has MDS, what would it change? Nothing. Finn is who he is no matter what. Whatever his potential is, whatever his limitations might be - none of that is going to change with a diagnosis of a slightly different name. Besides, I'm just getting comfortable in this club. I'm not sure I want to start over in some other club.