Wednesday, August 29, 2007

Genetic Counseling

So, when I walked in the place was full of preggos. I had asked when making the appt (it is a perinatologist group) if all their patients are pg and had been told about half. So, I thought I was ready. Um, no.

Plus, I was not a big fan of all of the signs in the waiting room that said that "recliners are for pregnant mothers only." It was a bit of overkill to have six signs, one on every recliner and several on the walls. Way to make the infertile feel comfortable. When the receptionuist called me up to check in, she asked me how I was doing and I told her I would have been better without all of those signs. She explained that often people who were not pg (esp men) would take the recliners and a lot of their patients were on bed rest and needed them. I explained that it was still insensitive to the infertile. After she got me checked in, the office manager came out and wanted to talk with me about the signs. She was actually pretty cool and admitted that it was a bit much. I understand that too many people are stupid and don't yield seats to preggos, esp these ones b/c they are high risk and often on bed rest, but come on. The office manager said they had never thought of it from that perspective and actually appreciated me saying something. Anyhow, that was my little stand up for infertility moment of the day.

On the other hand, I really liked the genetic counselor. She didn't talk "down" to me and gave me lots of options and a few things to consider. I have the most common genetic mutation for cf. My siblings have a 25% chance of being carriers as well. And the cousins have a 1/8 chance. I feel like I should say something to them, but I don't know which side it is. I don't speak to my maternal cousins and have very little to say to the other side either.

On a side note, those who are cf carriers have a genetic advantage in not contracting cholera. This is why they think the carrier gene became so prevalent in the Northern European population as an evolutionary advantage. This kind of thng fascinates me.

Anyhow, odds are with DH not being a carrier for 97 of the most common mutations that cause cf, that we have only a 1% chance (double the general population) of having a baby with cf. He could do a further sequencing screening to test for most of the others if we want to narrow the odds some more. She also told me that it was good to know that I was a carrier b/c our state conducts a mandatory newborn screening and if the baby was a carrier, it would come back + in the initial screen, so I would not have to worry as much until the second test. She also wanted me to consider chromosonal testing for me b/c of my mother's recurrent losses.

She told me that we could do neither of these tests, do one or both now, or wait until I got pg before doing either of them. I really appreciated her perspective to carefully consider whatever we chose to do because every choice has a consequence. I think we will wait on the further cf testing because the risk is low enough that it would not prevent us from going forward with IUI. I am conflicted on the chromosonal testing. Part of me wants to know but what if there is something wrong, does that leave us with only ivf and pgd as an option? I just want to at least get in an IUI cycle before I have to consider all of this.

Who knew trying to have a baby would involve all of this craziness and so many choices?

1 comment:

Lollipop Goldstein said...

Here with the prickly pear margarita and glad you decided to delurk. And good for you for speaking up and explaining how those signs could be read for another person. Though I'm trying to picture these guys all sprawled out in the waiting room :-) It's sort of a funny image. With their massively pregnant wife sitting upright in an uncomfortable chair...