Genetic Counseling

So, we had our genetic counseling appointment this morning. The counselor was actually helpful. She explained some details about some procedures that I didn't know. Like how exactly they do prenatal testing for the child (once you are already pregnant). Prenatal testing is often recommended even after a PGD procedure, just to be really sure.

There are 2 types of prenatal tests. One is done during the first trimester, during the 3rd month sometime, and the other in the 2nd trimester. I was really surprised that they can't test for the disease until the 3rd month! If we didn't do the PGD, that's a long time to be pregnant and not know if your baby will even survive or not! And then what if it comes up positive? Ouch. Also, both tests have a risk of miscarriage for just doing the test itself. Not much though, 1% for the first trimester, 0.5% for the second. But still, not a happy thought.

They insert a needle through the abdomen (ahhh....) and extract either some of the placenta (1st trimester) or some amnionic fluid (2nd trimester). Because the needle has to puncture through, it can cause contractions, which is where the risk of miscarriage comes in. Not a happy thought. I'm glad I'm planning all this before I get pregnant!

What I thought was strange was that our genetic counselor didn't mention the option of PGD until we asked about it. However, the first thing she said about it was that it was very expensive, so maybe she didn't mention it because she thought we couldn't afford it. (We were dressed a little scruffy today.) She said it usually costs from $10k - $20k, which was actually on the low end of what I expected. I don't have any official cost estimates from the Reproductive Genetics Institute yet, but I'll post them when I do. Once we asked her though, she explained a lot about it, but nothing I haven't already talked about. She wasn't really helpful in that department since I had already done so much reading about it.

She did say she would give us the contact info for a doctor who does the procedure here, so we can check him out too. I don't think it's very likely that we would go with him though. I want to be sure I go to a big institute where the procedure is routine, and where they have experience doing the genetic testing specifically for my disease, which I doubt we'll find with a soul doctor or a small practice.

All in all, I think it was a good visit though. I appreciated the explanations of the prenatal tests especially, and I feel so much more organized and together. My husband was really helpful too. It was so nice of him to come with me. He remembered a lot of our questions and made sure to ask them.

Strangely though, my husband's reaction to all the talk about the prenatal testing, and the fact that the genetic counselor didn't immediately recommend PGD, was totally opposite of mine. Now he thinks we shouldn't do PGD at all! He thinks we should just take our chances and have an abortion if the prenatal tests turn out positive!! This is totally incomprehensible to me! If I got anything out of that visit, it was that I only have 50% chance of having a healthy baby and no miscarriages, and almost 100% chance of having one with the PGD! And how could we just take the chance of having to have multiple abortions?! That's crazy! He thinks the genetic counselor made PGD sound really complicated and unnatural, whereas having miscarriages (natural abortions, he calls them) is a very natural thing and happens to women a lot of the time anyways.

I am just stunned at his response. Saying it's okay to "keep trying" and have abortions when the test is positive, and saying it's okay for me to have miscarriage after miscarriage after abortion after miscarriage to finally get our child is just totally wrong to me. And how about if it's positive and it's a girl? Girls with IP can be mentally retarded, that's true, but they can also be perfectly normal, like me. And there's no way to know which. How could I abort an IP girl who could be perfectly healthy? That's just wrong. But if I didn't, we could end up with a mentally retarded child.

So many problems and moral dilemmas. But with PGD there are none, or very little. How can he not see that? In any case, he's said we can still do the PGD if that's what I want. So that's still what we'll do.