Friday, September 4, 2009

Not what we were expecting

I have some results back from the genetics testing, and they're not at all what I was expecting. We're being referred to a genetics counselor because as it turns out, my husband's sperm might be the problem.

It turns out that he has an extra X chromosome. If you remember my post about the chromosomal testing on the last embryo I miscarried, the embryo had Kli.nefelter's Syndr.ome.

We just found out that my husband does too.

Now what's strange about this is that he doesn't have almost any of the normal Klin.efelter's symptoms except that he is taller than his father and brother, and clearly, there may be an issue with his sperm. What's really weird is that he is NOT infertile (as evidenced by our two year old.) But that's a biggie in Klinefe.lter's. Between 95 and 99% of males with Klinef.elter's are infertile.

However, from everything I've read, Klinef.elter's is NOT hereditary, so it's apparently a total coincidence that our last embryo had it?

I'm going to be very interested to see what the genetics counselor has to say. I'm guessing that our next step is probably selecting sperm. And IVF...


Stacie said...

Wow, that is really interesting. Not at all what was expected. Where do you go from here?

Stacie said...

Sorry, you already said you are being referred to a genetics counselor.

I wish you two nothing but the best. I hope these answers you are getting are bringing you some peace.

Anonymous said...


Oh wow. You must have such mixed emotions. Slight relief to have an answer? what do you do? I'm so heartbroken for you.

Karen said...

I really hope no one takes this the wrong way, but I'm actually kind of happy for you. Obviously there's a problem and it may be a very difficult one to overcome, but you knew there was a problem already. This is something that points you in the direction of an answer. If he can have more children, you've just upped the odds of success tremendously. And if it turns out that he most likely can't, you at least will know what to expect and can start looking seriously at your other options.

It's not that I'm callous to your shock and dismay, and to the potential for bad news. It's just that I know the last thing you wanted was another miscarriage and it seems to me that this news may mean that you have a much better chance of carrying your next baby to term.

I really, really hope the genetics counselor gives you some real answers and a new plan of attack.

Dawn said...

Wow! That's a lot of information for one day!! I hope it ends up giving you the answers you've been looking for.

Bubba said...

Im not glad you are having troubles, but i am glad you know why you are, and there is a valid reason for it - one that can probably be overcome one way or another.
I have everything crossed for you. Good Luck at the genetic counsellor. xx

Wifezzilla said...

Wow, interesting indeed. I am glad oyu got an answer. I would probably consider IVF in that instance, also.

Let me ask, how did they test for that, is that in the blood workup?

Wendy said...

I'm sorry that you are at a crossroad that you didn't ask for. As the other ladies have said, at least now you know the issue and you can dive deeper into options and a plan - hoping you have a good appt with the genetics counsellor

Azaera said...

Wow. That must have been a huge shock. As for the heredity issue maybe they are wrong? SOD (what Skyler has) isn't supposed to be hereditary either but there is new research that points to a faulty gene, and there is about a ten percent chance that our next baby may have the same thing.. So maybe it's rare that it gets passed on but there might be a slight chance? There is so much that we don't know about medicine, even the doctors, scientists and researchers are still discovering new things all the time.

I hope you can find a workable solution for the two of you. At least now you may have some idea what the problem is.