Monday, June 30, 2014

Truly Unexpected

We received the preliminary results from the amniocentesis today. The diagnosis is triploidy. I am still somewhat in shock. It's not at all related to the balanced translocation, and appears to be a very, very rare fluke. It's a birth defect in which every cell in the body has three of each chromosome instead of two. So it's a trisomy of everything, not just one chromosome like Down's Syndrome or trisomy 13. There is a possibility that it's mosaic triploidy, in which some cells are normal and some contain 3 copies, and that is less severe. There appears to be less than 60 cases documented world wide, although I am seeing a lot of articles and blogs with that figure mentioned and no statistic to back it up so far. There's a chance that the baby could live months or, very unlikely, but possibly, years, with the mosaic form.

I am experiencing so many fears and emotions. Some are similar to when Peter was diagnosed, and some are different and somewhat unexpected. Mostly I still feel stuck. While I am glad to have information (information is like a drug for me....I can research something for hours and hours and still hunger for more details. I need every scrap of information I can find) there is still a lot we just can't know. Full versus mosaic is an important piece of the puzzle. But more than half of babies with this diagnosis die in the first trimester. I am already 17 weeks. Most who make it that far still won't make it to term alive. So, unlike with Peter, we have no idea how long we have with this baby with us- days, weeks, months, or even years. It's very stressful; even just thinking about planning out-of-state trips to see family or weekend getaways are fraught with "what-if's".

On a happy note, the baby is a girl. Stay tuned for the name :)

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