Friday, March 1, 2013

26 week Update

So, I really thought we were in the clear. Maybe we still are. I hate those phone calls that make things more confusing than confirming. We got a call from the genetic counselor on Tuesday saying that they were able to spot a deletion in Charlotte's chromosome 17. The deletion is what identifies nephropathic cystinosis, and if you we're to google the term you would find some scary stuff. Not fatal, right away, but scary. Definitely made a note to speak to my clear source of information, Dr. Refuerzo. The first phone call left with the understanding that she is just a carrier of this. Not a huge deal, right? Obviously either Tim or myself is also a carrier, we just didn't know. People carry syndromes and disorders in their genes for a long time, but you have to have a baby with a person carrying that same thing to give yourself a chance of having a baby with that disorder, right? (I'm going back to 9th grade biology, here, so pardon the layman terms of everything!) Those people just don't get tested so they don't ever know that they carriers. There are only about 2000 cases in the world. Even if Tim and I both just happen to be carriers, then there is only a 25% chance that she will have it. Remember this from high school biology?

We also went back to the specialist on Thursday and things looked decent. The fluid stayed about where it had been for a week. In my non medical opinion, I think this is good because we are in a normal range AND my belly is getting bigger. If my fluid is staying the same then that means something in there is increasing in size and its not my water level! Crossing fingers that Charlotte is growing away in there!

She looked amazing and, I swear, every time I get an ultrasound from the specialist I am amazed at how well you can see what is going on in there. You could see her playing with her feet. Not just, "Look, her hands are by her feet!", but you could see each individual finger grabbing and pulling on her little feet with toes that were curling and straightening back out. You can see varying degrees of color showing bone, muscle, tissue and skin. It was actually more impressive than the 4D images we have gotten with Hunter!
When we got to the profile shot, you can see her legs curled around and her toes up past her forehead.

I already love this little girl so much, and I wish that I could enjoy this pregnancy as much as I did Hunter's. Physically, this pregnancy has been quite easy (once the morning sickness went away), but emotionally? I have been on a roller coaster. We are up, then down, then up, then down. It is hard for me to go into her room to make plans, because I am scared that we won't make it that far. I make a point to buy something super girly and brand new for her each week. For about a month, I was scared to buy anything, but with each passing week with kicks and growth I am feeling more confident.

1 comment:

  1. Thanks so much for sharing at the Baby Shower - it's such a precious post I had to make it one of my features. Am so thinking about you and so rooting for Charlotte.

    Look forward to seeing you at this week's party Alice x