Monday, September 14, 2009

Just when you thought you knew what was going on

Remember how we just found out that T has Kline.felter Syndrome? Well, it turns out that he DOESN'T have it after all. We met with the genetic counselor today, who was awesome. (She's at the hospital with the NEW doctor, so that's good.)

So here's the deal: We were told last week by T's doctor and by my doctor's office that T has an extra chromosome, and when I said "Kline.felter Syndrome" the nurse at my doctor's office confirmed it. (I didn't witness the call from T's doctor, but T said he "mentioned" Kline.felter.) From those two sources, I assumed that was what we were dealing with.

It turns out that T has an extra Y chromosome, not an extra X chromosome, which is completely different, and is NOT a reason for miscarriage or infertility. In fact, the only implication it has at all, according to the genetic counselor, is that people with XYY Karyotype tend to be tall, which T is. No research has shown it to be passed on to future generations, so the last embryo that had XXY is back to being a complete fluke.

The genetic counselor said that they did not get a copy of the chromosomal report on the embryo, so she offered to call to get a copy. (Thank you jesus. No more phone calls to that office, please.) She wants to look at it because she said that "XXY alone is not a reason for miscarriage."

Where are we now? T is effectively out of the equation again, and we're back to having no idea what's causing the miscarriages. I have a follow-up appointment with Dr. G tomorrow, during which I expect her to say that she has no idea what's going on and we have to try again and see what happens.

I'm so relieved for T because I think he was pretty weirded out at the thought of being diagnosed with this strange "syndrome" as an adult that hadn't affected him at all throughout his life. However, I'm frustrated that we thought we had at least an answer and maybe a plan, and now we're back to square one.

8 comments:

wifey said...

what a roller coaster! I'm glad for T, and hope you guys get an answer, dammit@!

wifey said...

Oh, and thank you for the kind comments to me. Your comments always make me smile, even when I don't think I can.

:)

Dawn said...

Wow! What a confusing mess!! I hope you are able to figure something out soon...that is definite.

Wendy said...

talk about getting yanked around a bit like a yo-yo
:( Sorry that you are going through this but I'm glad the gc was able to clear it up today.

Stacie said...

You poor thing. I am frustrated for you. I know that doesn't help you one bit. I wish I could give you a big giant hug and take all of this away from you.

Karen said...

Oh wow. This is like something from a bad soap opera. I'd want to cry from frustration if I were you. :(

cheryllookingforward said...

That's good news for T, but it still sucks to not have any kind of reason. I hope you find one, soon and this new doctor will help!

gallerygirl said...

Glad you are still getting some answers, but sad you are still waiting for all of them. I hope they can give you a clear direction and soon!