Wednesday, January 2, 2008

Home

We are home. Which is good not the least because the logistics of twice daily progesterone suppositories in a house full of people staying up till all hours talking and kids running in to ask you a question very early in the morning, they are not at all easy.

But I was also anxious for most of the drive home, and stayed that way since we got here. Being here means doing things. Like trying to get a repeat beta, which is not as easy as it sounds given that our new insurance has not sent us the cards yet, and I am afraid of offending the paperwork gods. I hope to get the insurance thing figured out tomorrow morning and get the beta shortly thereafter. I will then (Friday, likely) call my OB's nurse, Nurse Kind, and ask her to schedule that first appointment. I will have to further complicate things by asking her to schedule the ultrasound for a few days before the appointment, since JD is leaving next Friday, and we kinda both think he should be there for that.

Adding to my anxiety, but only a little, is the phone conversation with the genetic counselor we saw two days before the onset of the Big December Drama. I am not a carrier for fragile X, which was a long shot in the first place. I do, however, have a mutation in the cystic fibrosis gene (CFTR). It's rare, it only occurs in the Ashkenazi Jews, and it seems to be mild. It can, when combined with a severe mutation, such as the one JD has, cause either asthma or the absence of vas deference (which was the original reason we got sent to genetics). And since I am guessing that while prenatal tests would be covered, post-natal would be out of pocket, and since if there is asthma in our future at some point, I would want to be prepared, I think whatever pregnancy gets to that point, I will have to have an amnio.

Oh, and talking to her forced me to say the p-word today. I had been practicing saying it in my head so that I don't sound like a complete doofus when I call the nurse, so I did ok. Let's see if I can type it too. Um... I am pregnant. You think that might have something to do with the anxiety?

14 comments:

slouching mom said...

You are pregnant. That has a lovely ring to it.

xxoo

Cathy said...

wonderful word. just a note to say that I have severe asthma, and properly controlled any child can live a full and normal life (i played both soccer and the trumpet). so although it is something to think about, don't worry your entire pregnancy over it (ok well, just most of it) :) its going to be ok. no biggie in the grand scheme. or at least, what i think, the asthmatic!

Magpie said...

Welcome back, and yes, you are pregnant. Lots of luck to you, and a wonderful 2008.

Julia said...

Cathy, thanks so much for letting me know. I figured we might have to line up a specialist or two if we end up expecting asthma. Or worry about some other things, like eczema which often accompanies asthma. But (if this is not painfully obvious yet) I am a pathological planner-- I like to be prepared for anything I can anticipate. (But of course this helps not at all against the unexpected things that blindside us.) It does help a lot, though, to hear that it shouldn't be too bad to prepare for or to live with. Thanks!

baby~amore' said...

congratulations I hope 2008 is everything you want it to be and much more.

niobe said...

Depending on what the odds of asthma are, if you really want to have an amnio, you may have to put up a certain amount of fuss. (I'm guessing you can probably do that). But, since the chance of an amnio causing a miscarriage is something like 1 in 200, doctors are sometimes reluctant to do one.

Karen said...

Julia, it rolls just trippingly off your tongue onto my screen! Stay well!

Betty M said...

I am very glad to see you being able to use that word.
As my son has CBAVD I have been fascinated (and educated) by your investigations. My husband and I have only been tested for the common mutations not rarer ones. Is the asthma linked to the combination of your and JD's mutations or just to one as the possibility of that hasn't been raised with us by our genetics people? I have to say I am not fussed (much) anymore by the CBAVD itself as I am pretty sure that that will be overcome more easily 20 years on.

My Reality said...

Yes, you are!

Birdies Mama said...

I agree, that sounds so lovely to me too. Yes, you are pregnant. I am so happy for you, so happy.

xoxoxo

wannabe mom said...

you are pregnant. siiiiigh!!! i am so happy. and i hate saying teh p word too.

The Oneliner (Christina) said...

blech...just what you need, more things to worry about. i like what cathy said. i played the oboe, and let me tell you, to play ANY wind instrument, you gotta be able to blow.
and i cannot believe that i just mentioned that i played the oboe.

i hope this turns into a false alarm.

Julia said...

Betty, my mutation is very rare, so the company that does sequencing only has a few cases in its database. Asthma seems to be, in this case, a milder version of CF effects, but without pancreatic involvement. They can't say what the probability is of getting asthma if you have mutations because most people without symptoms never have their genes sequenced. So the best they can say is that it can cause asthma but it probably doesn't always. And yes, it would be the same combination of alleles that would (possibly) cause CBAVD in our sons, but again, unclear how deterministic that is. They used to think CBAVD can be caused by a single mutation (mutant allele), but there is more and more evidence that in most cases there is a second mutation (or variant) on the second copy of the gene.

I guess that's a very long way of saying I don't know. The trick is that my mutation is so rare, very little is known about it, although the change causes the substitution of an amino acid of one kind for another. It can be rather significant but I guess the location of this particular residue is such that the effect by itself is not severe. JD's on the other hand is one of the well-studied bad boys.

Aurelia said...

As another asthma mom, it really is no biggie to deal with, and since the risk of it seems incredibly low, it isn't something to seriously worry about, IMO.

Fact is, your child could get asthma or have some other minor issue anyway, completely unrelated to this gene...as one planner to another, I know it's scary to look into the unknown and ride the wave, but try to keep yourself worrying about the big ones.