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3rd Trimester
XP: For those of you who followed my story.. WE GOT THE RESULTS. (Long, sorry)
Hope you're sitting down.
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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Re: XP: For those of you who followed my story.. WE GOT THE RESULTS. (Long, sorry)
Pardon me for dancing...but :::a fluke a fluke a fluke::: Nothing hereditary. Nothing that can be passed to your next child. Nothing lurking in your own set of chromosomes that would cause this to happen. NOTHING YOU DID OR COULD HAVE DONE OR WOULD HAVE BEEN ABLE TO DO!!!!!
I am so happy you have some answers, little momma. Hugs and blessings to you.
Oh jamers! I jave been following your story, my heart broke for you and...Patricia. You have had enough suprises, seriously! This post even shocked me! Wow. I am so happy that you finally got those long awaited answers and that this was a totaly fluke, not genetic.
How, and why did they assume your baby was a boy..when there was no way to tell?
E-hug and E-drink of your choice comming your way!
Jame - I am so so so so comforted that you got answers and while they are shocking they are really complete and concise (your analogy painted the perfect picture). I hope this allows you to find some peace and that you can now absolve yourself of any responsibility you worried or blamed yourselves for....
What are the odds that you and Lils would have a switcherooo?? I'm stunned simply stunned.
I'm so happy you are finding comfort - you guys deserve it and I can't wait for you to try again!! There are children out there, waiting to be born that deserve you both as parents!!?
Jamers - you've been such an inspiration in how you have dealt with this whole thing! I can't imagine I'd be nearly as collected and calm as you have seemed to be. Such a random thing to happen but like you said, finally some answers!! Sometimes that closure makes a world of difference! Can't wait to hear when you start TTC again and hope all goes well with you, DH and future "non barbie doll" babies!
::hugs::
Jamers, I am so glad that you got the results and I hope and pray that you get good news about diabetes and are able to have a healthy pregnancy in the future. While I am still so sorry about your loss, it's good that you know this was nothing that could have been prevented or predicted.
Sending positive thoughts that your future is full of good things for you and your husband.
Bronx Zoo: Summer 2013
To read my blog, click on the giraffe pic below!
The determination of "male" came from 2 things. 1. An indicator of this sequence is 'ambiguous genitalia", so there was a... "tubular shaped growth" if you will, in the normal penis location. That, coupled with the fact that on inspection, there was no vaginal opening, led to the initial decision on a boy. The autopsy summary even states "External examination indicates a male fetus". however, when they got further in, they discovered no urethra in this mass of tissue. And a UTERUS AND AN OVARY. My mom was right with the doc when he examined for sex, and she swears that it looked just like a little boy.
You also have to keep in mind that with her size, had it been a real penis, it was veeeeery small. Like a half inch at best. So, short of whipping out a magnifying glass, a simple glance indicated a still developing penis.
I'm so glad that you got some results...shocking and unexpected as they are. I didn't realize you were STILL waiting on them!
Good luck for when you're able to TTC again!
this!! and a lot of credit to you to sharing your story so we can all learn about this condition.
I'm just in shock, obviously... it's crazy, I'm calling friends to tell them and everyone has the same reaction....
"Hey, it's me got the test results back and... um... Patrick was actually a girl...."
"Um..... excuse me?!"
Thanks for posting the results. I am so glad you got some closure on what went wrong. DH is a pediatrician and I just told him what your LO had- he was blown away- said that is one of the rarest things a child can have.
anyway, thanks again- I've been thinking about you guys and hoping you're doing well.?
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