Thursday, July 8, 2010

One hell of a week

Tuesday, 12:30pm: Got the call, from the actual obgyn. Note to future self: When the doctor herself calls with test results, it is never a good sign.

Quad screen results. All fine, except for Trisomy 18, which is essentially a fatal diagnosis. The babies who manage to be born alive do not live longer than a few days. My risk for Trisomy 18 just based on my age: 1 in 350. My risk for Trisomy 18 based on the quad screen results: 1 in 13.

As if to underline the gravity, the doctor said she already had an appointment for me the next morning at a perinatalogist, to do a Level II ultrasound and, if we wanted, amniocentesis.

I hung up and was calm enough at first. Then I went to google. I wasn't sure which Trisomy that 18 was. It is also never good when you can find no pictures of living children with the disease you think your child might have.

I left work early, shaking, crying, in utter and complete panic. No.... more like terror. I called Jeremy; I texted a couple of close friends and my sisters.

When Jeremy got home that night, he wanted to know what stuff the blood test measured and how exactly it went from 1 in 350 to 1 in 13. I, of course, got defensive; Brody was with my mother in law, so we took the opportunity to yell a bit. Who cares how we got to 1 in 13; the fact is we are there. But as a wise friend told me that night, J has to understand how to build a watch before he can tell time. So. True.

But Tuesday? Not a good day.

Wednesday, 9am:  Antepartum Testing, LLC. Probably the kindest, gentlest doctor's office I've ever experienced; I think kinder and gentler than the NICU. Soft words, reassuring when they could be, gentle touches, joking about my Lovenox bruising, not condescending, but smiling and kind. 

First, the ultrasound. It took an hour. It was the regular 2D ultrasound. She started from the head and worked her way down.

Thanks to Google, J and I had achieved mini-masters' degrees in Trisomy 18 overnight. He knew about mosaic Trisomy 18. I knew that physical markers of Trisomy 18 that they see on the ultrasound include strawberry shaped head, clenched fists, rocker bottom feet, and a baby that is not growing, and is very much behind where he or she should be.

When the tech measured something I instantly paid attention to the automatic calculating on the screen and each time it registered within a week of my due date, I took a breath. The head size: ahead of schedule and awesomely round.


Brain: perfect. All the things there and no structural anamolies.


We asked her whether she saw radius bones and thumbs (since Brody had neither). She said, "I can't tell about the thumbs right now, because I'm looking at the hands opening and closing. They aren't clenched. See? Opening and closing. That is a very good sign."


"Yes, there are radius bones in both arms. And I think that's a thumb, but I can't be sure."

I saw that the hands came off the wrists at 180 degrees, not 90 degrees. After that, I didn't care if the baby had thumbs or not; we can get thumbs. But if the wrist is straight, that's half the battle right there.


She measured the upper arm bone. I watched the measurement calculator. On target.


We saw the mouth opening and closing, and the tongue moving and the lungs taking practice breaths. Jeremy squeezed my hand. The tech smiled a lot. She called the baby stinker when she couldn't get a good measurement.


Heart: beating. I saw 4 chambers. But the doc and the tech said it's too early to confirm all is well, just because of the size. At 22 weeks, they can confirm. They didn't see anything that gave them cause for concern.

Kidneys? We think so. Two, even. They are tiny, but she took a picture of the "renals."


And it's a boy. Jeremy laughed out loud. I'm still in shock. A boy? My sugarplum is a boy? I really thought it was a girl. So much for my and everyone else's theories. I didn't want a girl, per se. But I thought he was a girl. Strange.

Feet: Not rocker bottom.


After the ultrasound, the doctor put our risk for Trisomy 18 at 1 in 100.

We did the amnio.

It stung, it didn't hurt. After my abdomen was very tight, kind of crampy but not. No bleeding though.

They said there was a 75% chance that the preliminary results - to check for Trisomy 13, 18, 21 and gender - would be in Thursday. The doc said if we hadn't heard from them by 3:30, to call the office.

I rested the rest of the day.

Thursday: Apparently, both Jeremy and I interpret "75%" as being 100%. He called me, had I heard? No. A few friends texted - news? No. (As an aside, I have the best friends and sisters a girl could ever hope to have).

10 am, 11am. . . Seriously? Every time the phone rang, I picked up on the first ring. Not the doctor's office.

1pm, 2pm, 3pm. . .3:40pm. I call. They put me on hold.

I get a work phone call. I hang up on the doctor's office.

I finish the work call, call the doctor's office back, apologize for hanging up.

"That's okay; actually, your husband is on hold on the other line. Do you want to wait on hold too?"

I start laughing. "No, I'll let him get the news."

3:50, 3:51, 3:52.....

I have to go meet with my boss and my boss's boss for a quick little thing. I bring the phone.

Of course, it rings and finally it is the doctor's office number. I look at my boss, who knows everything that's going on. She nods, and I step out of the deputy's office.

It's good news. "You can breathe a sigh of relief. We couldn't be more pleased with the results. Everything is negative, and you are having a boy. The rest of the results will come in about 10 days." (The FISH result only measures the 4 I mentioned; the other 42 pairs of chromosomes are being tested right now, as well as the official version of the first 4).

I hang up and immediately Jeremy calls. I thought he knew the news. "Did you get the results?" he asks. "Yup. It's a girl! That's crazy!" I say.

"What? No, did you get the results?"

"Yes. Didn't you?"

"No, I got disconnected."

My poor husband. I quickly told him it was all negative, and that we are having a boy.

My braw and brave little sugarplum.


Robyn said...


I realized I was holding mine through the entire post even though I already knew the outcome!

Shannon said...

I was bawling the whole time I read this (and still am), even though I already knew the outcome too!

lizcraciun said...

Wow! Amazing! Spectacular! Miraculous! Soooo thrilled for you. Been praying every step of the way.