Tuesday, February 17, 2009

Waiting is the hardest part.

The amniocentesis was yesterday.

Before the amniocentesis itself, we met with a genetic counselor and a geneticist for about an hour. They asked us a lot of questions about our family histories, about birth defects and learning disabilities on both sides, etc. We discussed the amnio in depth, and they gave me many opportunities to reconsider my decision to go ahead. They both stressed multiple times that my chance of DS was still in the normal range (1 in 313) versus the arbitrary cut-off of "abnormal" (1 in 311). I knew, in my heart, though, that there was no way that I could possibly wait another four to five months to find out for sure. So, they walked me across the hall for the amniocetesis itself.

Before they started the ultrasound, they asked if we wanted to know the sex.

"Yes." I said. "Yes. We want to know."

Not that it would've mattered.

As the sonographer was measuring the femur length I said "oh. damn."

She looked over, inquisitive - "Is something wrong?"

"Another boy."

Now, when I found out I was expecting again, I said that I wanted to have another boy - as I had the whole boy thing figured out (at least at first). I had tons of boy clothes, etc. I would be a liar though, if I didn't say that I was jealous of other people who were pregnant or recently had girls. As we're not sure if we'll try for another after this one, a part of me was disappointed. But there was a greater part of me that sat in wonder - looking at the screen as our son waved his hand in front of his face and then FLIPPED ME OFF. They weren't able to get a good profile shot so we are unsure as to whether the nasal bones are present (if they aren't - it's a soft marker for DS). However, there were no other indications on ultrasound that were cause for concern (a shortened femur or humerus, cardiac defects, cardiac echogenicities, tricuspid regurgitation, cystic hygroma, duodenal atresia, omphalocele, polyhydramnios, choroid plexus cyst, renal calyceal dilation, and echogenic bowels). Certainly, that doesn't mean that we're out of the woods - but it is good news nonetheless.

We elected to pay extra (or hopefully have our insurance pay extra) to have fluorescence in situ hybridisation (FISH) testing done to expedite our results. The full amniocentesis results are available in about 1-2 weeks, but the FISH results should be available in 24-48 hours.

Most women who had one told me that it was relatively painless - akin to a shot. Now, as someone who gave herself shots for years as part of infertility treatment (both the sub-cutaneous ones in my belly and the intramuscular ones in my thigh - including one in which I BROKE the needle and had to dig it out) I will say that for me personally, that was a bit of an understatement. When the needle punctured my skin, I barely felt it. When it broke through the uterus, I whimpered a bit as a massive cramp wracked my body.

They took out what seemed like an inordinate amount of pale yellow amniotic fluid (two very large vials worth). As the perinatologist was removing the needle, I almost came up off the table it hurt so bad. I had some fairly bad cramping last night - but I have to say, that even though it hurt more than I expected to I would do it again if faced with the same situation.

So... for now, we wait. And I have to say, that as anxious as I was about the amnio I'm far more anxious waiting for results.

I desperately want this baby to be o.k.

Friday, February 6, 2009


close enough to animosity anyway.

Amniocentesis scheduled for monday Feb. 16th - meeting with the genetic counselor on the same day. I've been googling low Papp-a results all day and really shouldn't be doing that. No good things can come from scaring yourself half to death.

The hospital by us with the best fetal medicine department can't fit us in for four weeks. Which if something is wrong, severely limits our options timing wise. So it looks like we'll be going to Lutheran General in Park Ridge instead as they can get us in a week from Monday.

If you've had an amnio I'd love to hear about your experience. I'm petrified of needles (how I got through all those years of self administered fertility shots is beyond me) and honestly just scared. Really scared.

Thursday, February 5, 2009

Seeking input, personal stories, etc.

My first trimester screening report had the following information:

NT: 2 mm
CRL: 68.8 mm
GA @ US: 13 w0d
Free Beta HCG (MOM): 2.08 90th percentile
PAPP-A MOM: 0.57 20th percentile
Delta NT: +0.32

First trimester cut-off risk DS: 1 in 311
Before screening: 1 in 696
After screening: 1 in 313

Trisomy 18/13 first trimester cut-off: 1 in 150
Before screening: 1 in 1,302
After screening: 1 in >10,000

We're scheduling an amniocentesis. The information I've gotten from Dr. Google isn't terribly reassuring. Any input, guidance, personal stories, etc. would be greatly appreciated. Right now I'm a nervous wreck.

In other news, I've inexplicably gained 10 lbs. this month!!! I'd lost 3 lbs. last time, but I'm up for a total of 7 lbs. Not cool.

Otherwise, things are good. Heartbeat fine, fundal height fine.

My heart is still lodged in my throat.

Wednesday, February 4, 2009

I'm sure it will all be fine...

Things have been a bit hectic here.

Julian turned 9 months old over the weekend, and celebrated it by walking. He's walking everywhere now - it excited bursts of 8-9 steps at a time. He can walk for longer periods if he doesn't realize he's doing it. Otherwise, he's a bit like a cartoon character walking off the edge of the cliff. As long as he doesn't look down, he's good. The minute he realizes he's not attached to someone or something - faceplant.

Last night I ended up working at the office until almost nine, so by the time that I got home he was already asleep. Unfortunately he's still mostly co-sleeping (with my mom actually, as he won't sleep in my bed). He hates his crib with unbridled passion. We're working on transitioning him to it, but it's VERY slow going. And the "crying it out" thing only works when everyone in the household is game and doesn't go in to rescue him from his "baby jail."


I broke the news to work this week about baby #2. Everyone was a bit surprised, but seemingly supportive. I'm only taking the full paid leave of three months this time, and no unpaid leave.

We're planning a trip to Switzerland at the end of March. Flying into Zurich - and then who knows what we're doing from there. Of course, J will be 11 months old by then - so clearly, we are insane. It'll be the first transatlantic flight we've taken in coach too - (waaaaaah, I know. I shouldn't bitch - but it was REALLY nice when Patrick had super fancypants Executive Platinum status with American and we got free upgrades all the time). The cost to upgrade to Business now would be 3x the cost of our tickets, so uh - no thanks.

I'm freaking out at the moment. I had my triple screen and ultrasound at 12 weeks (when I was measuring 13 on the dot) and the risk of trisomy came back at 1 in 10,000. Whew. Good. BUT - the risk of Down Syndrome came in at 1 in 313. An abnormal result in my doctor's office is 1 in 311. When I had Julian (remember, just last year) my risk was 1 in 1,300 or something. Markedly different. I'm only 29, so my risk should be considerably less than it came back as.

Right now, I'm feeling overwhelmed. Other than amniocentesis, I don't know if there are other tests they can do. We really want to have another child - and I may get flogged for this - I will be brutally honest in saying that I cannot personally parent a Down Syndrome baby. I know that some people have found them to bring great delight to their families, and I applaud that. I just know that for our family... that simply isn't possible. Even at 1 in 313, the risk is very low. Rationally, I realize that.

I also have a connection to this baby already, and the thought of even potentially terminating has my heart in shreds and I've been sobbing all afternoon.

I have an appointment with my doctor tomorrow afternoon. My heart will be lodged firmly in my esophagus until then, I guess.