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!