A Case of the Mondays?

Could be just a normal "case of the Mondays," but I'm absolutely exhausted today. It could also be that I'll be 10 weeks pregnant this Thursday. Exciting! We have our CVS appointment set for the following Thursday at 11 weeks at Brigham and Women's Hospital. Since it's early in the day, we will receive the preliminary results the following day. Some people that undergo CVS are concerned about Down Syndrome or other diseases. For us, the prelim results of sex are the most important. It will be a long night and I doubt I'll be able to sleep. ... If the results come back that it's a boy, I'll be upset. Let's be honest here. It could be a perfect little guy but we'll have to wait, and wait, and wait. The cells will be cultivated at UMass-Boston then sent to the University of Chicago for testing. We'll find out the results 2-4 weeks later. Now that will be killer! We'll have to make a termination appointment in the event of negative results. Fingers crossed...

Ahhh the Genetics

On the ride into the doctor's office years and years ago (I was 13 maybe), my Mom told me the story of my family's shitty genetics. Women in my family carry x-linked myotubular myopathy, which is passed to offspring 25 percent of the time (50 percent of males). Since learning this, I always worried about having a healthy pregnancy and a healthy baby.

Now that I'm pregnant and a confirmed carrier, my husband and I have decided to test the earliest way we can: chorionic villi sampling. I spoke with a genetic specialist at the one of only two labs in the country that tests for myotubular myopathy (University of Chicago) today and his news was disappointing. Four weeks from now at week 10, I will have the CVS procedure. Using a "quick test," the lab will be able to tell if the sex chromosone is a male or female within 24-48 hours. If female, we are home free (although she may be carrier like me). If male, the cells will be sent to UMass to cultivate then to the U of Chicago for testing. Results won't be back until I'm 13-15 weeks pregnant. I was hoping for more like 11-13 weeks. The last thing in the world I want to do is have to end this pregnancy. But even worse than that would be to continue to full term and watch my baby die within 2 weeks. Babies with severe x-linked myotubular myopathy are born ventilator-dependent. I want my baby to have the best chance we can provide!