1 out of 11 is not so bad

So I got a call from one of the genetic counselors at Prenatal Associates about my jew panel blood test. Turns out I am a carrier of Canavan disease, which is a pretty scary disease. As long as Perry doesn't have it, blueberry will be fine. We are going to meet with Amy, a genetic counselor after my first trimester screening on August 6th. Nothing I can do now except wait.

Appt with Dr. Galaif and a Pleasant Surprise!

Today was a checkup for Heather with Dr. Galaif, and it was my first time meeting her. She seemed pretty nice, and I liked her. She generally seems to get good reviews on Yelp, however there is one worrisome one about failing to remove the placenta post-delivery (yes, pretty worrisome!). We're wondering if we should bring this up with her in the future to ask for her side of the story.

The checkup started off well. The doctor wanted to hear blueberry's heartbeat with a fetal doppler, but was having problems finding it. We got a little worried there, and I think the doctor could tell, so she moved us over to the other room to do a quick ultrasound to confirm everything was OK.

She found the blueberry pretty quickly, so that was a relief. It looked much more "baby-like" this time, and it was kicking around like crazy! We watched it for about 2 minutes, and in that time, it kicked 3-4 times. It looked a little bit like a bean jumping around in a mini-moonwalk.

Here's a short clip i filmed on my digicam showing a nice kick at about 20 seconds in:


Incredible!

Pin Cushon

Today I got my blood tested for my frist timester screening (coming up in about 2 weeks) and to test for genetic diseases "popular" in Eastern European Jews. They suggested I get tested for 4, but I decided I might as well go for all 11 which included:

• Cystic Fibrosis (which Dr. Lam actually tested me for and was negative)
• Tay-Sachs
• Canavan Disease
• Familial Dyautonomia
• Bloom Syndrome
• Fanoconi Anemia Group C
• Gaucher Disease
• Glycogen Storage Disease
• Maple syrup urine disease (is it wrong the mention of this makes me crave pancakes?)
• Mucolipidosis Type IV
• Niemann-Pick disease type A

The nurse was very sweet but after she took my blood, I realized she only took a small amount. I guess she didn't realize I was getting a bunch of tests, not just the 1st trimester screening ones. So she had to stick me again, this time in the other arm which didn't work out so well for her... or for me I should say. She had to call in the veteran nurse to stick me once again. Now I have bandages on both arms and I didn't even get a free juice out of it. I should have results in 2 weeks.

First look at the blueberry!

Today was our first visit with an obstetrician and we got our first ultrasound. Heather's primary doctor, Dr. Galaif, was on leave for a family emergency, so this first visit would be with a different dr at the same practice--Dr. Lam. I was a little weirded out at first because he was a guy, but he turned out to be really nice. Plus, Heathcliff Huxtable was a male obstetrician too, right? I would let Dr. Huxtable deliver my wife's baby, for sure...

When we met Dr. Lam, I was instantly reminded of the doctor in Knocked Up, but I think that is only because:

1. he is Asian
2. we had just watched it again when we were in Brooklyn

The high point of this visit, without a doubt, was seeing blueberry on the ultrasound monitor. It was basically a fuzzy blob of pixels, but it was a huge relief for us to find out that everything was proceeding just fine. We could even see the heart, which looked like a pulsing spot near the center.

We received a huge stack of booklets, pamphlets, and other materials to start reading.

Some things we learned today:

• Heather is approximately 7 weeks, 3 days along. There are lots of pregnancy websites out there that compare the size of the fetus at this stage to a blueberry--thus the name of this blog.
• The due date is Feb 15th--this means there is a chance it could be Valentine's Day, or it could fall on a Friday the 13th!
• Our little blueberry measured in at 13mm (a hair over half an inch)
• Dr. Lam said sushi is okay, as long as you stay away from the high mercury stuff

Oh, they also gave Heather 5-6 packs of various prenatal vitamins--free stuff rules!

Without further ado, our first look at the blueberry:

Our next scheduled appointment is July 30th, where I will get to meet Dr. Galaif (Heather has already met her). Our next scheduled ultrasound will be on August 6th, which will be the first trimester combined screening.