Friday, May 29, 2009

Got the results of the testing, and HOLY WOW, this is nuts...

Patrick, or should I say, PATRICIA, had a VERY RARE (rare as in less than 150 known cases IN THE WORLD. E.V.E.R.) "sequence".

This is going to get complicated, so pardon my lack of tact, but what I'm about to say is the easiest way to explain all this...

Our baby was like a Barbie Doll. Ambiguous genitalia, and NO HOLES. None. Meaning, baby could not "pee" to create the amniotic fluid, because it had nowhere to come out of. There was a "bump" on the front of the pelvis, coupled with a lack of a vaginal opening, HOWEVER, chromosomal testing revealed a XX. That's right, folks. Patrick is a Patricia.

The internal organs were fairly well formed, given the circumstances, but there was no vaginal opening, the urethra didn't reach the outside, and there was no anus. Barbie Doll. Yeah, it's tactless, but it gets the point across.

The name of this syndrome is Urorectal Septum Malformation Sequence. This explains the long wait for the results - they had no idea what they were dealing with!

We're blown away, and have been laughing hysterically since we got all this info. It's not "funny" but it's typical that something so random would happen to me - I have bad luck like that. And that's all it was - luck. There is suspicion that this can be caused by uncontrolled blood sugar levels, so they've recommended I get a full diabetes screening, but even if I have diabetes, and WAS managing it at the time, it wouldn't have necessarily prevented this.

A fluke, ladies. And according to this OB (the one who delivered baby... girl?!?) once I've done the screening, and taken the steps necessary based on the results, we most certainly can try again.

Feel free to ask any questions you'd like - this is beyond random, for sure, and I'm still trying to wrap my brain around it. Definitely not the answers I was expecting, but its answers, and I feel tons better.

Oh, and also, this was not genetic, so no testing other than an ultrasound would have clued us into this. And earlier ultrasounds might not have revealed any of this because the organs weren't big enough to recognize the abnormalities yet. So.... we really couldn't have found out any sooner than we did. Which also comforts me.

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