Thursday, August 25, 2011

Sugar,Spice and Snips,Snails

Today we went in for the 19th week screening ultrasound. Typically,I go alone...but this one is a milestone so this time,it was both me and my husband. I go to a maternal-fetal medicine high risk consult,typically every 3-4 weeks(for an ultrasound,at 8,10,and 14 weeks) and they've also done blood work screening for Trisomy 18/Downs Syndrome.(of which,it was all within normal limits so there's little chance the baby will be born with it. Not impossible,but I believe the more info I have,the better I'd be prepared to begin dealing with that possibility anyway. I need lots of information to keep me sane.)

So,after waiting about an hour,we were called back & the tech started the comprehensive ultrasound scan...looking at the heart,arms,legs,head,etc. (naming what she was looking at) As she was leaving the room,I asked what it was (she certainly wasn't volunteering that information) & in a voice as dry and uninterested as humanly possible said "It's a X" before making her escape. Seriously,we've waited 19 weeks for this moment and that's how you act? (I don't know if she was having an off day or harbored a personal prejudice against moms with diabetes,like they have no business being pregnant) Then the doctor came in,and he was much nicer with explaining everything. Took another look at the fetal heart & proclaimed everything to be right on track.(weightwise,about 8 oz and no abnormalities) And it's kind of nice that they're concerned that I have someone to help with the blood sugar rollarcoaster, as the regular GYN office really doesn't care(or ask)about diabetes stuff at all. But the high-risk group only does the monitoring,not the actual delivering of the babies.(its all very specialized) My Endo handles it,but they've offered the services of their diabetes educator should I ever need it.(emergency or otherwise)

After that,we saw the genetics counselor for an in-depth discussion regarding my medical conditions/chance of passing them on.(more specifically,about my Bartters Syndrome) Because most variants are autosomal recessive,that means that I won the genetics lottery and got it from both parents(while my five siblings got Nada). In the general population,the chance of being a carrier is 1/1,000 so the chance that the baby will have Bartters is 1/1000 but there is 100% chance that they'll be a carrier. That's if it's recessive linked,I could have the (extremely rare) dominant form and in that case,the child will have Bartters Syndrome. (if that were the case,it would be apparent at birth) Insurance,of course,doesn't cover gene testing and I don't see spending $6000 on it,it wouldn't change anything anyway.It would be nice to know at some point in the future though(if I could find a research facility that would test for free). My nephrologist says that since it doesn't change the treatment regimen,there's really no need (I guess the only thing one can do,is be alert & proactive with any changes,at birth).We talked about medical issues on both sides of the family tree,they drew more blood,and scheduled the next screening in 4 weeks.

And it's a boy!!!

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Colleen said...

It all sounds good so far. Yay!
We have two boys. They're fun, noisy, eat a lot and BIG. Enjoy!

Scott K. Johnson said...

Awesome Heidi!

George said...

YAY!!! IT'S A BOY!!!

Minnesota Nice said...

OMG, Heidi - I had NO idea you had a bun in the oven.
Your knowledge and intelligence will give the little one the best possible chance.
Good luck!