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Tuesday, December 14, 2010

It's in the genes...

So today has been somewhat stressful, we had our first appointment with the genetic counselor. 


Some of you maybe wondering why I'm going to a genetic counselor...  My OB decided to collect some of the tissue from my D&C and have it tested so we would know what caused the miscarriage.  Based on those results the tissues tested positive for *Trisomy 16 (the baby had two sets of chromosome 16, most pregnancies with this defect do not survive after the first trimester).  In order to be more informed and determine if this pregnancy will not result in another genetic mutation I'm now getting a second level of care with the genetic specialists.

Our initial visit was pretty intense we talked with the genetic counselor for about 45 minutes and she went over Trisomy defects, and we spent most of the consultation going over me and Patrick's medical history.  If you've never done it before you should take the time and chart your medical family tree, it's and eye-opener.  She also went over what procedures we were going to have done that day and what the next steps should be.  Sidenote: when going over our family's health the very last question she asked was "since you and Patrick are both of African descent, could you be related?"  I fell over laughing, because I'm thinking after all these years if we are we've got bigger problems than genetics (cue Temptations singing 'Papa was a rolling stone')... CTHU!

So during this visit they needed to do a sonogram and take blood to test for Down's Syndrome and other genetic disorders.  When doing a sonogram they are able to tell if the baby has Down's by measuring the translucent space in the tissue at the back of Ripley's neck; babies with abnormalities accumulate more fluid at the back of their neck during the first trimester, causing this clear space to be larger than average.  They also took blood to which can detect abnormalities, y'all already know I acted like a fool during the blood test, until she said they could just prick my finger, THANK GOD!  The counselor said I would have results back in a week, at first I didn't want any bad news before Christmas, but the more I thought about it the more I wanted to know because we had planned on telling the Grandmothers during the holidays.

The sonogram was actually kind of cool to see in the baby in 3-D, but it was hard to enjoy because I was focused on the latest round of testing.  But everytime I see our baby it fills me joy and happiness 'til I almost can't contain it.  I've never felt anything like it, to want something so bad and pray for someone day in and day out that I've never even met is tripping me out. 

As far as next steps, the results of the non-invasive tests will determine if we need to move forward with invasive testing.  And by invasive testing that means amniocentesis, and I don't think it gets anymore invasive than sticking a big-ass needle into my stomach and removing fluid!  And then she shows me pictures of the procedure and I'm thinking "lady I don't even like to give blood, ain't no way that's going in my damn stomach unless you knock me the hell out!"  I know that have to provide full disclosure but those photos stayed with me for the entire day, and I've been praying that God keeps his angels around our baby so I don't have to go through that. 


You want to stick that where???

During all these weeks I haven't allowed myself to fully enjoy the joys of being pregnant because I was always waiting for the next visit or the next test.  I am praying that after I get these results I can start to wallow in the bliss of my impending motherhood.  I'm ready to get my pregnancy glow and stop thinking about the next dreadful appointment.

So without further ado, here are the latest pictures of our Ragamuffin...





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