Thursday, January 08, 2009


There's a little known side effect of having a CVS: a fat lip.

Wait, what?

Yeah, okay, I can see how you might want some explanation. So, yesterday, Mr. WG and I dropped the kids off at school and continued on to the clinic for the CVS. We met with the genetic counselor who explained that -- and this will stun you -- the Internet was wrong. The CVS would NOT test for all genetic diseases. Rather, their plan was to look only for D's specific mutation. Huh. Um, but, well --

Not to worry, said the counselor. We can also do a karyotype. That would tell us about Down syndrome, Trisomy 13, and Trisomy 18, the most common genetic problems. Um, OK.


So. It won't quite be the total reassurance we wanted, but it will be something. OK.

Fine. Eventually, we were called in for our ultrasound, where we saw the baby sucking its thumb. And then the doctor came in, and as I suspected, we had to go trans-abdominal (it's generally done cervically, but I have a tilted uterus), which hurts kind of a lot. But it was over quickly, and I came home and collapsed on the couch.

Several hours later, Baby J. threw a phone at me, which hit me in the head. I screamed bloody murder, Mr. WG grabbed the offender away, and D. and Z. came for a closer look.

"Mommy, you're bleeding," said Z., and she pointed to my lip. I was clutching my forehead in pain, but turns out the phone hit me in two places, and I was bleeding. D. was horrified.

"Oh, Mommy, what happened? Should I get you some ice?"

"No, thank you D., I'm okay."

"Should I get you some ice?"

"No, sweetie. I'm fine."

"Should I get you some ice?"

"Yes, please."

"I get you some ice." He did, and then he cradled my face in his hands and held the ice in place until I had frostbite. "It's all right, Mommy. You be okay," he told me.

It was almost worth getting whacked in the face.


Shosh said...

d sounds awesome!

Jenny said...

Sorry about your busted lip, but awww, D was so sweet!! When do you get the test results back?

Lisa b said...

oh that is adorable. the ending I mean, not the wacking that necessitated it.

Funny, and by funny I mean not, when I had the CVS they didn't look for NSD1, just did a karyotype then told me they were 95% sure J was fine.They could run microarrays to look for other singe gene disorders but I think in most cases if you have a normal karyotype and nothing weird shows up on ultrasound you are ok.
I went to the genetics session at the conference this summer, and I think you know what geek I am already so if you want more email me.

ella said...

Aww, sweet D., taking good care of his Mommy. Lots and lots of good luck wishes for the test results!