Saturday, August 17, 2013

Waiting. Again.

Having had a miscarriage already once, complicated by, well, the specter of cancer, this new loss was actually more terrifying.  Was it another molar pregnancy?  Something even worse?

This go-around, I am registered on my fancy hospital's web-portal, and can access all of my lab results as soon as they're in.  I was at a work-related function when I made the mistake of checking the site.  Kids, put the phone down, or you'll learn the hard way that nearly bursting into tears in front of your colleagues isn't optimal.

Karyotyping results:  Trisomy 14, Trisomy 22.

Wait, what?  My poor baby had not just one chromosomal abnormality, but two????  Sweet jesus.

That night I get home and of course research the fuck out of these trisomies.  For starters, is it beyond bad to see a DOUBLE trisomy? 

T-22, turns out it pretty common, often associated with advanced maternal age. 

T-14, however, throws me for a loop.  The only hits I really get on it are related to something called a "Robertsonian Translocation" which appears to be an inherited genetic defect.  Good god, are we inherently flawed on top of old?

The next day, new RE calls.  "Your karyotype results are very interesting," she says, with the fascination in her voice that I am becoming accustomed to.  "I had to talk to a genetic counselor to understand them!" 

I love being a walking statistical anomaly. 

Let me guess, Doc, do you suspect we have a balanced translocation?  It turns out my withering old egg contributed the T-22, however, the T-14 came from Husband's DNA.  He would have to get karyotyped himself now to determine whether or not he was a carrier.  For once, I wasn't the one who would be donating vials of blood for the cause.

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