Thursday, January 28, 2010

Trisomy 13



The OB called back in just a week, and I was surprised to hear from her so soon, but the lab results on the baby were already in after the D & C. She said, "it was an extra chromosome." I immediately wanted to know which chromosome and she explained that it was "number 13"...in other words, Trisomy 13. Trisomy 13 is a very serious chromosomal problem and is considered fatal to the baby she explained. Most babies do not make it to live birth and those that do usually live for only a few hours or days. One of the areas it impacts is the heart, and congenital heart failure is a problem, which explained (to my mind) why the heart beat may have stopped so suddenly. She also said they "weren't worried about it being genetic." Meaning, it was most likely not inherited from us as parents, but simply a random, fluke mistake that happened during conception due to damage in the sperm or egg. Once again...I immediately thought about those SSRI anti-depressants my husband was on and the way they damage sperm DNA. It certainly seems like a very possible cause. Of course, at my age of 37, my eggs aren't in tip top shape either, so between us, our risk is higher. Still....those awful SSRI's! (We resolved to get my husband off of them.)

Finally I asked the OB if they knew whether it was a boy or girl. My OB hesitated and asked, "Do you REALLY want to know?" "Yes" I said. "It was a little girl."

I hung up the phone and immediately called my husband to let him know. While it was sad news, I was also relieved on some level because it meant that we had been spared, in some sense, more heart break later down the road. While I still deeply, deeply wish I could have held my baby if even just once, I know that it would have been beyond heart breaking to go through an entire pregnancy and live birth with Trisomy 13. The pain I was experiencing was awful enough. I also realized, although I had been terribly angry at God, that this was an answer to my earlier prayers: "If something is terribly wrong, please take the little one home to you Lord."

I did a bunch of googling and saw all kinds of images and learned all about Trisomy 13. I also let my parents and best friends know the news. This was of some comfort, just to have answers to give others and not always wonder "why?" like I do with my first miscarriage. More information about Trisomy 13 can be found here: http://ghr.nlm.nih.gov/condition=trisomy13 and I found a very touching site for parents of Trisomy 13 children: http://www.livingwithtrisomy13.org/ .

The OB had me come back for a follow up appointment 2 weeks later and things looked fine. The lab drew 10 viles of blood to start testing me for possible causes of recurrent miscarriage. I was told the doc would put me on progesterone during my next pregnancy, not because she thought it was the cure, but because she would feel like she was doing everything she possibly could to give me and the baby the best chance. Low progesterone levels in women are known to correlate to higher miscarriage rates, but it is unclear and hotly debated whether it actually helps to take progesterone. I suppose many take the approach of, "We don't know but it can't hurt." I left the office feeling that this part chapter of the story was now over and I could begin healing.

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