Genetics

11/26

Yesterday was the official 20 week ultrasound. Thanks to my "dramatic" history, I will have two separate ultrasounds done at the hospital to check the babies growth, fluid levels, etc.

We went last week to Fetal Foto at the mall to get gender because Dave had to work yesterday. So I went to the hospital by myself. Nothing too crazy. During my last trimester with Cameron I had to get stress-tests done there every week. I knew the routine and nothing weird can come of this right? I admit I felt a little nervous, because baby girl does not move very much.

The ultrasound tech was oddly impersonal, but I knew something was up when a good chunk of the time was spent measuring parts of the baby's brain.

Finally, the supervising physician comes in and drops the sentence like he's noticed a new freckle or that you dyed your hair, "I don't know if Mary talked to you about the cysts in your baby's brain but.."

He literally trailed off like that.  My heart sinks and my brain starts running a thousand miles an hour, but my ears are desperately trying to listen because this is important and there's no one here with me to listen.

Baby girl has two fairly large looking cysts in her brain, one on each hemisphere.  In the ultrasound it looks like her brain is made up of two donuts (choroid plexus cysts).

The angle of this is a little weird, but you can see parts of the cysts.

These cysts have three possible attributes/outcomes:

1. They could mean absolutely nothing. Doctor said 5% of normal babies born each year have these cysts and are completely fine and fully-functioning babies.

2. Many times they just go away in like a month.  The baby's body sorts out the cyst and distributes it, or something. I'm not a doctor....

3. These cysts are relatively common in babies with a genetic disorder linked to Trisonomy 18 or Trisonomy 21. These two genetic disorders and commonly known as Evan's Syndrome and Down Syndrome. 

After the doctor lists these options, he goes on to do his own ultrasound and I'm doing everything I can not to break into hysterical cries. He checks for other signs of genetic disorder: cleft palate (she has a fully connected lip and nose) and opening hands (she does it just slightly and wiggles her fingers on one hand for the ultrasound).

Following the ultrasound, I opt to do the stupid blood test to find out how many of these chromosomes my baby carries.

It takes 7-10 BUSINESS DAYS, otherwise known as the longest days of my life.

I'm not a super big fan of blasting business all over Facebook and I didn't really want to tell many people because I'm trying not to freak out about this. I don't meet any of the other criteria points that would indicate these genetic disorders and frankly, Dave isn't really worried.

I can't help it. I'm carrying her inside me. She's a big piece of me and it's terrifying to think abou the future. Even more so than when we first started planning for second baby 11 months ago.  I hoped that this baby would be different than Cami...I meant easier...

So it's been eight days since the test and thanks to the holiday, it's been only four business days.