Saturday, June 21, 2008

Doctor's Appointments and Blood Test Results at week 13

So yesterday was my check-up and all is looking good with the baby. We listening to the heartbeat which was around the 150 mark which is good. The doc said that it should be between 120 and 170 - so we are at the right point. I am always more than relieved to heart that heartbeat and know everything is ok. How did women live before these things existed? It must have been SO stresssful! The doctor did say that it looks like the blood clot is gone so last weeks bleeding was likely the last bit of that. Woohoo.

The doctor then went through m blood test results and it turns out that I am a carrier for something called Fanconi Anemia. I/90 Ashkenazi jews is a carrier and in the general population it is 1/300 however only 1000 people in the world actually have the disease. It didn't make me happy to hear that I was a carrier. The next step is that Nick has to get a blood test and see if he is a carrier. If he is, then onto further testing for the baby to see if the baby has the disease. If Nick isn't, then we are fine and there is nothing to worry about as the normal gene will win out.

It made me sad to hear that there may be a problem, even if I know the chances are slim. I feel like I can't just relax and enjoy this pregnancy because at every turn there is something that make me feel like I can't get attached and really start planning. I just want to hear that everything is ok and I have nothing to worry about anymore. I can't wait to get to that point. Nick is going to go for his blood test on Monday so hopefully we have the results soon. I just want to not have to think or worry about anything other than the baby arriving in a few months. *sigh* I'm so frustrated with all these problems. I sometimes wonder if it was better in the days when they didn't know so much or if it is better to know everything and just feel in a perpetual state of nerves. Hopefully we will know soon.

2 comments:

Anonymous said...

Honey, from now on, there will ALWAYS be something to worry about!!! Lol. From what I've heard, all new mothers go though periods (or constant?) insecurity about everything to do with the baby and their own skills. I think Fanconi's Anemia is a pretty small one, as it would be unusual for your baby daddy to be a carrier. Before I got married, I had the "Ashkenazi Screen" at the local Genetics Department of a hospital. Ha ha! We are so inbred!!

All seems to be going well!!! You don't need to start rearranging furniture to make room for baby stuff yet, but I think you can sit back and relax with your glass of milk and know you are well on your way to motherhood!!!

Anonymous said...

I KNOW it's stressful. Why can't anything just be uneventful? WHY?!

I hear your cry... when we had our screen it came back with an elevated risk for Down's- surprising for my age... of course I freaked, but we did further testing to know for sure. The waiting for the results was not fun at ALL.

The bottom line, in my opinion is: you will love your baby no matter what. I think that it is certainly better to know in advance so you can research, plan, line up the right specialists, etc... (and bank the cord blood if necessary.)

Of course, I hope beyond hope that Nick doesn't have the gene. Good luck with the test. And screw the glass of milk- have some junk food while you wait!