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.

Genetic Roadblocks

Today is our 11 month anniversary! Just thought I’d note that. Amazing how time flies. Last year at this time the wedding was a month away, the bachelorette and bachelor parties were next weekend, and we were practically (well, I was) counting down the days.

Anyway, back to the topic at hand. As far as the vaccines, it turned out I had all the right antibodies and such, so no problem there. We may have another hiccup, though, and for this one, I’m a bit pissed off at my former ob-gyn, myself and even a touch at Andy.

It’s all about the Tay-Sachs testing. Last June, because my sister and my mom are carriers for the disease, I had a blood test to see if I’m a carrier as well. Ashkenaze Jewish people—which my family is–have a much higher likelihood of being carriers, and though Andy is unlikely to be one, it’s important for us to make sure we’re not both carriers.

So my first mistake was probably having my regular doctor, at the time still Dr. Wistenberg, order the test. I should have done it through my ob-gyn since they tend to know a bit more about the whole thing. When I went to the lab to get the test, the technician had no idea what the test was and we spent some time looking it up before figuring out the right one.

Basically, the standard (and cheapest, most simple) test to see if you’re a carrier measures the level of an enzyme called hexosaminidase A in your blood. Carriers will have a lower level of the enzyme than non-carriers, because if you have the disease itself, it means you don’t have any of the Hex-A, which breaks down certain fatty substances that otherwise build up in tissues and nerve cells, especially in the brain.

So unfortunately, my test came back ambiguous, which means my levels are right in between the carrier and non-carrier ranges. On the results from the lab, it says ambiguous results can occur during pregnancy or if you’re on high-dose birth control pills. Dr. Wistenberg said she didn’t really know much about the disease so suggested bringing the results to my ob-gyn, which I did.

That was when I was seeing Dr. Chams, and I guess looking back it didn’t seem like she was much of an expert either. I thought I asked her whether my birth control pills could have a been a factor and that she said probably not, but maybe I didn’t. I did ask her if I should have some kind of other test that would tell me for sure, and she said I should just have Andy tested because if he wasn’t a carrier, then we wouldn’t need to worry. She did say that since my mom and are carriers that it was likely that I was too, given the test results.

I told Andy around that time that he’d need to be tested before we started trying to get pregnant, but we both figured we’d wait until it was a little closer to that time. In May I emailed him with the info and asked him to make an appointment. He didn’t do anything, so than I brought it up again in the middle of June. When he finally called, he couldn’t get an appointment to see his doctor until the last week of July. I figured at the time that it wasn’t a huge deal, because I thought the chances of him being positive were so slim that the test was pretty much just a formality, just to be sure. We were planning to start trying to get pregnant in mid August, so the timing would be fine.

He comes back from his doctor and says he has to go get the bloodwork done at a lab later in the week, but his doctor (who is apparently a carrier for some other similarly serious genetic disease so was especially concerned) said I might want to check with my ob-gyn to see if they thought we should see a genetic counselor or have one of the more extensive tests, which I believe involve DNA or at the very least leukocytes (white blood cells), that are more accurate predictors.

I was surprised since everyone else in the family just had the regular blood tests, but now it’s made me uncertain. And after doing more research, I’ve read some things that say that the blood tests are 95% accurate for predicting whether Ashkenaze Jews are carriers but only 60% accurate for others, which I don’t even understand. 60% isn’t really a confidence inducing number. So I tried to find out the likelihood of a non-Ashkenaze Jew being a carrier and it says 1 in 250, which seems much higher than I thought. High enough that 60% doesn’t seem great.

Anyway, I called my doctor and left a message, and the nurse who called back asked me to fax over my test results so the doctor could call me back. I faxed them over on Thursday but haven’t heard back, so I don’t know if they just didn’t get them or didn’t have time to call back. I don’t want to keep calling, but I want to find out if I need to be doing something else. Andy did have the test done Friday and gets his results next Friday, the 8^th. If we’re going to start trying this month, we’d start doing the every other day sex thing around the 11^th or so, so timing is tight.

I know if I’m uncertain I should just wait another month and see what else we need to do, but it sucks because I’ve been planning this timing for like a year, and if I’d known earlier we needed to get other tests or find a genetic counselor or whatever, I had plenty of time to do that! And also, my sister is a carrier and her husband Matt just had the regular blood test and no one told them to do anything different. But if something did happen and our baby got the disease, how terrible would that be? Of course, there are genetic tests you can have done these days in the 9^th-11^th week that are different from a regular amenio, which is done later, but still – to have to face that decision about terminating a pregnancy? Better if you can know beforehand.

Couples who are both carriers have a 25% chance of their baby getting the disease, but there are things you can do while getting pregnant to avoid that if you know ahead of time. In vitro, for example, lets you choose to implant only healthy eggs. But I’m getting ahead of myself. The point is, I wish my last ob-gyn had been better informed, that I had done more research back then and that Andy had gone to his doctor when I first asked so that we’d at least have gotten started earlier than we did. But who knows, maybe my doctors will end up saying that the regular test is fine for Andy. Obviously it’s good enough for most people since it’s the standard uses to determine who’s a carrier. I guess another month wouldn’t be so long to wait, but I’ve just been so excited about finally starting after all these months of planning. We’ll see what happens.

Meanwhile, Andy is afraid I’ll be obsessing about this until we know for sure, which I’m trying not to do. Last night I said to him, I know you’re probably afraid that I’ll be a complete nut once I actually am pregnant about all sorts of potential health issues and problems. He agreed, and I told him that I promised that if I started to get too crazy about it then I’d start seeing Andrea, my therapist, again.

I also said that he could tell me if he thought it was time for me to start going if I didn’t initiate it myself. It’s a fair plan. I do tend to often think something’s wrong with me healthwise and can get pretty stirred about it. Sometimes I actually have to tell myself that I can’t possibly have all the things I worry is wrong with me (usually some sort of cancer like throat or lung or ovarian), so that probably means I don’t actually have any of them. It’s actually a helpful strategy.

Anyway, we’ll see what happens after Friday. In the meantime, it was funny that when I got my period Monday, what I thought was, this will be the last time I’m happy about getting my period for awhile. Pretty weird stuff. I look forward to the anticipation of waiting for my period not to come each month once we do get started. I don’t look forward to the disappointment I know I’ll feel when it does come, so hopefully I will handle that in a reasonable manner.