No Condom, No Pill, No Turning Back

Well, we did it! Without condoms, without the pill, without anything. It’s a little mind boggling if you stop to think about it. I fought off the temptation to try to stand on my head afterward like my Nana always says she did back when she was trying to get pregnant, but I have to admit I stayed lying down a bit longer than I might have otherwise.

It’s true that there’s something decidedly unromantic about coming home from the geneticist and saying, ok, we can get going on that baby tonight! Which means that for sure the sex will be completely unspontaneous. Which it was, but we made the decision to try to get pregnant this way rather than just having sex whenever and not using any birth control. It’s just in my nature; I’m a planner. And if I’m going to do something, I generally want to give myself the best chance for success.

But yes, the geneticist confirmed my thoughts that since Andy’s test did come back negative (which I was fairly certain it would since he doesn’t have a genetic predisposition for being a carrier), we’re in good shape. Basically she said that the test he took was more than 95% accurate for his not being a carrier, so that’s about as good as it’s going to get.

The geneticist, Dr. Booth, was this kind of crusty, raspy but friendly and helpful older women, somehow not what I expected. I told her about the troubles we’d had with my initial tests and then trying to get any kind of information about it afterward, and what Andy’s doctor had said to lead me to come see her. I also asked whether she thought it was odd that Dr. DiDonnotto never talked to me about any genetic testing in our meeting, and she said they should definitely talk about the potential for genetic diseases in a pre-pregnancy meeting.

We talked a little more about the frustrations Andy and I have been encountering and she agreed that people just don’t know about. She was like, “No one knows about it, and I’m getting old. There aren’t that many of us (meaning geneticists) and we’re all getting old.” She said there were only 600 or so of them left in the country and not enough new doctors getting into it each year, probably partly because compared to other medical specialities it’s not exactly the highest paying.

So before we finished, she told me that she didn’t think it was necessary for me to get the full DNA mutation analysis to see if I really was a carrier or not unless I wanted to find out so I could know if my kids should be tested. She said something like, “We’ll probably be all Gattaca by the time your kids would behaving kids anyway, wearing our whole genome on our sleeves, so who knows what they’ll be doing then.”

She did say that she always offers everyone the test for cystic fibrosis, because about 1 in 30 people are carriers for that regardless of their ethnic background. She talked about the probabilities and such, and I had her write out prescription for that and the mutation analysis in case I want to get those.

But for now, Andy and I decided not to go for the test. With Tay Sachs it’s one thing, because a child born with Tay Sachs live only a handful of awful, horrible years. With CF it’s a different ballgame, although the decision to go through with a pregnancy where you know you will most likely outlive your child, who would likely only live to around 30 at most, is not one I’d want to have to make. But there are so many things that can happen with babies and toddlers and kids of any age, and you can’t prevent it all and test it all away.

A Second Opinion

Well, the frustration with the process of trying to determine whether Andy and I can safely (as safely as we can reasonably know, that is) start trying to conceive continues.

After not hearing back from my doctor’s office a few days after faxing over my test results, I called back and they put my doctor’s nurse on the phone. She said that my doctor didn’t know anything at all about Tay Sachs so had passed my test on to another one of the doctors in the practice, who then basically said he knew nothing about it either.

So the nurse goes on to tell me that they don’t even usually do the Tay Sachs tests at their office unless someone requests it because they don’t know anything about it, and that they usually refer people to a geneticist at Lutheran General Hospital, which fortunately isn’t too far away and pretty easy to get to from my office. She told me that my doctor would look into it and she’d get back to me with the name of the geneticist they recommend.

So I guess it was nice that they were going to look into that for me, but really, I continue to be surprised by the utter and complete ignorance about Tay Sachs on the part of every doctor I’ve encountered and tried to ask about this. Is it because I don’t live in a largely Jewish area and they don’t run into these kinds of questions, or because the specific people I’ve asked just haven’t done their homework on this issue, or because only specialists know anything about it these days?

If that’s the case, I think that’s pretty poor. Someone at the more basic levels, an internist or ob-gyn, should at least know how to help direct a patient to the information they need. Which I guess they’ve done by passing me on to the geneticist, but even getting that name involved asking and waiting and all sorts of uncertainty.

But even more importantly, shouldn’t a regular ob-gyn at least know enough about Tay Sachs and similar genetic diseases to ask a few questions of patients who tell them they’re going to try to conceive? I mean, neither doctor at this practice that I discussed trying to conceive with asked me anything about genetic diseases or talked about certain groups that might be carriers for certain diseases to see if I might need to be tested. I guess these days you just need to be a more educated patient, but I tell you, the information – reliable information – is hard to come by.

The Internet can be a great resource but you have to find the right place to look, which can be tricky, and even then, reading information online doesn’t often answer all your questions. At this point, I feel like I’m seeing a geneticist just to see if I need to see a geneticist! At least the initial consultation is covered by my insurance, or at least that’s what the woman at my insurance company said when I called to ask.

I also tried to find out whether any more extensive testing would be covered, but that’s even trickier. There are all sorts of ways the tests can be coded depending on how and why they’re ordered by the doctor, and there are also all sorts of different tests they can give depending on all sorts of other factors. The insurance gal suggested I get the code of the test from my doctor and then check.

The woman I dealt with at the genetics office was very nice, at least. I called and told her about my results and that I wasn’t sure if I or my husband should get one of the more in-depth tests and she said she’d talk to a genetic counselor and call me back. And she did, but she said that the only tests they do there are the more extensive ones, so that wasn’t of much help. And she said to have them do a test for you you needed to be a patient, so I figured I might as well go do the consult to ask all my questions, and then I can get more tests there if need be.

Then I asked her about the codes, and she gave me a few possible ones to have the insurance company look up, but she also said there are a whole bunch of different ones it could be. So I guess I’ll have to wait until a test is ordered, if it is ordered, to then see if it’s even covered.

The whole thing still brings us back to the question Andy brought up when we talked about it the other day. How much better is knowing 99% for sure that he’s not a carrier (or me, for that matter, if I get retested) than knowing 85% for sure? If there’s still a chance either way, at what point do you just go ahead and say, let’s give it a try? Even with all the testing in the world, there’s never a guarantee your child won’t have Tay Sachs or any frightening number of awful health issues. But at any rate, going to see the geneticist can’t hurt.