Wednesday, December 23, 2009

Genetic counseling redux

Remember last week when I mentioned how my midwife told me we should meet with a genetic counselor before we try to get pregnant? Well, we had our appointment yesterday. And... it was kind of a bust.

I mean, it wasn't awful. It's just that when I was talking to the midwife, she gave me some basic information about genetic diseases. What she told me is that because Torsten and I are both European Caucasian, we have an elevated risk (1/29 chance each) of being carriers of cystic fibrosis in particular. Also, because I'm Ashkenazi Jewish, I have an elevated risk of being a carrier for certain Jewish genetic diseases such as Tay-Sachs. Because Torsten isn't Jewish, it's unlikely that he's a carrier for those diseases, but since it is possible that he has a Jewish ancestor somewhere that he doesn't know about, in theory he could also be a carrier.

So, if we're both carriers of the same genetic disease, we have a one in four chance of having a child with that disease. But, according to the midwife, if you know you're both carriers ahead of time, there are steps you can take to avoid passing on the disease. So, she said we should meet with the genetic counselor, who would ask us more in-depth questions about our family histories, provide us with more information about genetic diseases, and then draw my blood to see if I'm a carrier for anything. If I am, then Torsten will be tested to see if he's a carrier of the same disease. If he is, we'll discuss options.

So, we met with the counselor and... I guess I just didn't learn anything new. I wasn't really expecting to, because the midwife covered it pretty thoroughly, but I thought we'd have a slightly more in-depth conversation about the whole thing, and then she'd draw my blood. Instead, we had pretty much the exact same conversation I'd already had with the midwife, and then she told me that she wasn't going to draw my blood yet because the hospital first needed to check with my insurance to find out if the tests are covered.

I have to say, I was pretty freaking annoyed by that. My understanding when I made the 20-minute drive to meet with her was that she would be drawing my blood there. If I'd known the hospital needed to check with my insurance first, I would have asked them to do that when I made the appointment. And also, if the appointment is for exactly this purpose, shouldn't it be standard procedure for them to check with your insurance ahead of time anyway?

I did manage to talk her into drawing my blood while I was there, since it's good for a week or so, on the off chance that they're able to get insurance approval within a week. But of course it's about to be Christmas so I'm guessing they won't, so I'll have to do another 40-minute round trip drive JUST to get my blood drawn.

I would be less annoyed about this if I had felt like the rest of the appointment was productive. But... well, it wasn't, really. I mean, it was somewhat useful for Torsten because he heard the information directly from the source instead of filtered through me. But nothing was really new.

Though we did talk about one thing that was new. I asked what happens if we find out that we are both carriers for the same disease, what steps we could take to avoid passing the disease on to our child. And it turns out... well, not much. Basically the only option is IVF, essentially. You create embryos outside the uterus, test them for the disease, and then only implant the ones that don't have it.

Which... well. If we're both carriers of something (which is unlikely, especially since as far as we know, neither of us has any genetic diseases in our family), we'll discuss it. I mean, a 1/4 chance of giving birth to a child with a debilitating disease is pretty high. So, if we're both carriers, we're going to have to figure out what to do. But IVF is an expensive, invasive, challenging procedure. I guess my expectation was that there was something simpler that could be done. I don't believe in testing just for the hell of it, when you get information that won't change anything. I wasn't expecting to hear that we get tested and then, if the tests are positive, we have basically one choice, and it's a very challenging choice.

I mean, I'm not worried about it. The chances are so remote, and I'm not one to waste time and energy freaking out about statistical outliers. If it happens, we'll address it and figure out what we want to do. And most likely my tests will come back and say that I'm not a carrier and then it will be a non-issue and we'll all move on. So that's fine.

I just was expecting a little more from the appointment. More clear steps to take, and a test that was already approved. Instead, we both walked away feeling like the whole thing had been a waste of a couple hours. I mean, an important step forward. But not as productive as we were hoping.

Now I'm just keeping my fingers crossed that they get insurance approval at all, so we don't have to pay out of pocket for these tests, and that they get it within the next week, so I don't have to go back for another blood draw. We'll see if that's too much to ask.


  1. Sorry you didn't get more out of your appointment. What I've found, in general, with medicine is doctors don't proactively discuss things in detail if it's still an unknown ... because there are so many unknowns, they could spend a lifetime talking about things that may never happen (and that's just counter-intuitive to actually practicing medicine).

    If/when Sweets and I decide to have children, I doubt I'll do genetic testing. From what my doctor has always told me from the early days of seeing him a decade ago, he doesn't see that sort of testing necessary unless there's a clear history in my family. There's not, so I'm ok skipping it.

  2. Ugh. Sorry your appointment stunk. I wouldn't worry too much about your genetic history- there are plenty of couples out there that are both European Caucasian and have normal, healthy children.

  3. A genetic counselor seems like an awfully big leap for something that is relatively remote. I'm not surprised your insurance might not cover it. I've had a baby and I was offered the cystic fibrosis test and ... that was it. The Ashkenazi panel is typically only done if BOTH parties are Ashkenazic Jews. And I'm married to an Ashkenazic Jew. Neither of you have risk factors that are THAT much different than that of the general population.

    I'm sure you know this, but the CF tests only test the most common types of CF. There are others that are undetectable that you could both still carry.

    The most important thing having a baby taught me is that you can't really play your way in or out of it. You're a planner, which is awesome, (I'm a planner too) but having a baby is a risk, period. You can only test for so much, and even with the tests, you can still have a child who is afflicted with something. It's the risk we all take when we decide to become parents.

    Births don't go as planned, babies don't go as planned and it's all a big-ass crapshoot, really. A glorious crapshoot, but that's what it is.

  4. It sounds very stressful, but I think it's good that you're dealing with it ahead of time. We found out I am a carrier for the CF gene AFTER I was pregnant, from routine blood tests, and it was a loooooong two week wait to find out that Mr. E is NOT a carrier.

  5. I am sorry you didn't get more from your appointment.

    Maybe that is a good thing? Maybe it means there really isn't anything to be done or to worry about. You play the same odds as any other couple?

    Regardless, I hope your insurance covers it and that you don't have to get a second blood draw. A. has to work until 5:00 p.m. tonight (he handles all the lab work for a local doctor) and will be back on Monday. I would imagine the schedule would be the same for their office. The insurance company? who knows?

  6. Aw, bummer. I have 4 kids and have never met with a genetic counselor at all, so I was thinking it would be more in depth too.

  7. Well, you're far more organized about this than I ever was. We were both tested to see if we were carriers of CF after I was pregnant, for what it's worth. Other than that, we didn't do any other testing. I don't know what I would have done if I had known in advance that I had a high chance of something happening

  8. This is really interesting to me, I never thought to go do genetic counselling before getting pregnant. My boyfriend and my family don't have histories of anything, so I wouldn't have thought of it.

    Also, this is just another reason why I'm loving Canada. If I want blood work done, I just go to my physician and say, "I'd like a blood test for..." and go do the blood test, and wait for the results. No insurance to consult, booya!

  9. Genetic testing has been on my to do list forever! Kev's mom and uncle both died from CF, so testing is an absolute MUST with us. If I'm not a carrier, then we're OK; if I am, then K gets tested. If he is, then we'll probably do in vitro (they'll test the egg/sperm before putting it back in)....or else, adopt! :)