Friday, November 14, 2008

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.

11 comments:

nezza said...

Awww - what a superstar Finn was. And *hug* for you for the build-up. (It's Audy's UK friend again. I check Finn's blog every day still.)

I just discovered this today - there's a popular TV soap over here in the UK called Eastenders. I found out today that late 2006 two characters had a baby, and the baby has Down's Syndrome (we tend to say Down's rather than Down over here). I think it's intended as a way to increase public understanding/awareness. It seems to have been done with good intentions anyway. I just thought you might be interested. :)

I don't actually watch it, but as far as I can tell, the family and baby are still in the soap.

http://www.thebabywebsite.com/article.442.Eastenders_Downs_Syndrome_Baby.htm

http://en.wikipedia.org/wiki/Janet_Mitchell

JaybirdNWA said...

I'm sure that was a difficult ordeal for you to face but it sounds as if Finn did great.

Alycia said...

Lisa, that is hands down the cutest picture ever! I mean it. It made me want to hold him! Date night : ) But really, such a good picture. Is that with the new camera?

P.S. Will you text me from your cell phone with your house number and e-mail address. I got a new phone and put your numbers in it last time I was at the house but they are gone now! I don't know what is going on!

Tara Marie said...

I never had a Moby wrap when Emma Sage was little [I have a few different slings] but since I found the Moby, I'm in heaven.

No matter what the tests reveal, Finn is still Finn, exactly who he is destined to be.

Carla said...

Glad the little rockstar took it well. Adorable pic.

kris3mom said...

Lisa
at least you have done this and now you will have an answer one way or the other and not wonder about it any more. Please feel free to call us any time and when you get your results if you have questions, feel free to contact us and we can answer any questions you have.
1-888-MDS-LINK
979-828-4177
www.imdsa.org

Following Him said...

What a brave boy!!! I am very impressed. I do know that the medical field is a big mystery sometimes, so hang in there and stick to your gut!
~Elyse~

Amanda said...

Glad it went well - and I don't blame you for getting the extra testing - you're just being a good mom and advocate for your kids. He looks super cute in that pic, BTW.

Lisa B said...

Geez is he CUTE - such beautiful skin and coloring!

rickismom said...

Yeah , sticking them HURTS. As they get older, and know what's coming it gets worse. My Ricki (now 14 years old) has finally this year agreed to make blood tests without bitter tears...

Hector and Jennifer Varanini Sanchez said...

We have also been advised by our geneticist that we should have the 100 cell blood test on Joaquin. We are going through similar things as you are. I have also been told now by two different specialists that they believe all Down Syndrome cases to be some form of mosaicism when it gets right down to it. There is no way to test all the cells in the body- the brain cells, skin cells, heart cells, etc. and that if we did we would probably find that everyone falls into some category of mosaicism. It was a very interesting conversation. They both think this is why there is such a variance in abilities, facial features, health conditions when looking at people and children with DS. We should talk sometime and chat about it. But, really, like you said, and like the doctor's said, it doesn't change anything. There are still so many unknowns about our babies (even our typical children there are so many unknowns) but it's just interesting to learn more about the genetics piece. Our doctors even said that if the second 100 cell blood test came back positive for Trisomy 21, they would then recommend a skin test if we still wanted to learn more. So even the second blood test is not totally conclusive.
Keep in touch!!!
Jen