Thursday, August 31, 2006

His and hers

Just what I've always wanted, a matching set of his and hers clinical
order forms. They came through the mail this morning.

- Karyotype
- Cystic Fibrosis screening
- Y deletion

Y deletion is linked to severe MFI (very low sperm count or lack of sperm). (Raising eyebrow) I thought we didn't qualify as having severe
Cystic fibrosis is linked to severe MFI as well (though I'm not sure
this applies to carriers of the gene).

- Karyotype
- Fragile X

Carriers of a fragile X permutation are at risk of the dreaded
premature ovarian failure. (Gimme an antral follicle count, pronto!)

I'm surprised I don't get screened for cystic fibrosis. If we're both
carriers, we would have to look into PGD.

A quick search online tells me these are serious, but rare conditions
(someone has to be on the wrong side of the odds, I know). So, I'm
hoping this is a shot in the dark.

I don't see why he couldn't run some tests for blood clotting
disorders while he was at it. Really, is it that much more rare? I
think not, to give an example, 1 in 400 women has the MTHFR defect on
both genes.

I'm both eagerly awaiting and dreading the consult next week. I'll be able to ask him what the tests are for, but of course there won't be
any results, these things take a while. Probably, we'll just go in to
have our blood drawn for the tests right before the consult. Oh joy.

On my last post, about the CD3 test my dr. decided wasn't necessary after all, Thalia wondered whether he had done a full panel. He was going to request testing for FSH, LH, testosterone, E2, Progesterone, TSH, prolactin, DHEA and SHBG. The next day he said he had

everything he needed to know on file. I guess this is a full panel.

The doctor's excuse for not doing the blood clotting panel is that it is indicated for recurrent miscarriages. My highest beta on record is zero. Fair enough, but at least one team of scientists has wondered whether it impacts implantation.

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At 01 September, 2006 02:11, Blogger namaste said...

Ugh. Those tests sound a little overwhelming - such big scary names. I know that for CF only one of you needs to be tested - the only way it would be passed on would be if you both were carriers (from what I understand). At least your doctor is listening and trying to find answers for you. You'll be in my thoughts.

At 01 September, 2006 14:31, Blogger Thalia said...

those do sound like shots in the dark. I hope they all come back negative. Why isn't he doing a full karytype? And I agree, odd not to do the miscarriage panel at this point. Doctors can be so STUBBORN!

At 01 September, 2006 14:36, Blogger Bronwyn said...

Waiting for test results is just painful. You'd think that in this day and age they could get these things done in a day or two.

I was just catching up on your earlier posts about the diet. After losing 10 pounds in January, I put in all back on this summer. It's hard to feel motivated to exercise and eat healthfully when your emotions are all over the place. Will someone please invent a healthy donut?!!!

At 01 September, 2006 17:56, Blogger Just another Jenny said...

It would be nice to get some answers but I do hope the test results come out negative. As if we don't spend enough time giving blood already.

At 01 September, 2006 21:46, Anonymous Manuela said...

I don't get it... at all.
Those tests seem odd given they don't want to test for clotting disorders! Very strange. Clotting issues aren't that uncommon...

At 02 September, 2006 02:34, Blogger Angie said...

Hmmm.... Dr. Know-It-All?? I hope you get some answers fast!

At 02 September, 2006 04:16, Blogger My Reality said...

I hope you get the answer that none of these are problems. Testing sucks.

At 02 September, 2006 20:01, Blogger katty said...

Me too. I hope it's none of the above.
And thinking of you.

At 02 September, 2006 20:10, Anonymous Kath said...

Dear Lut, that sounds frustrating. So close and yet so far. Why do the Y deletion test if he's done IUIs with those sperm counts? And why do Fragile X when your FSH seems OK, seeing as he doesn't want to test again? I don't understand. And for heaven's sake, why isn't the so-called recurrent miscarriage panel done more often? Some clotting problems do seem to affect implantation.

I hope you get some good answers out of your doc, ones that will give you more confidence...

At 05 September, 2006 02:11, Blogger Mary Ellen and Steve said...

I hope that all of your test results come back okay. Thinking of you!

At 05 September, 2006 06:59, Blogger Millie said...

Here's hoping you get good results back quickly. I don't get the Y deletion test but have had several REs require cystic fibrosis just of my man (and I suppose me if he'd tested positive) and heard of others that commonly tested for Fragile X. Seems like a few more vials to rule out clotting and how could it hurt?

At 05 September, 2006 14:54, Blogger fisher queen said...

I was going to write what namaste wrote, and add that you might have been tested for CF when you started. I also wanted to wonder aloud why not the MTHFR panel. My RE wouldn't do it either, but as a matter of course, the clinic prescribed baby aspirin (as an anti clotting agent) for a few weeks after transfer.


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