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 :)
Saturday, June 28, 2014
I'm pretty sure we are insane.
Because here we go again. We are in our sixth pregnancy. I am still somewhat in shock that I have been pregnant six times, and you would never know it by the number of car seats in my car or dining room chairs at my table. In order, we have Julie, Natalie, miscarriage, Peter, miscarriage, and this little soul yet to be named. I am 17 weeks but I don't look like it. That's because the baby is measuring closer to 14 weeks. There are echogenic foci on the heart (thank you Google....I'd never heard of them either), and the ventricles in he brain are enlarged. Isolate them and they don't cause major concern. Put them all together and they are pretty strong indications of a genetic condition. We, of course, fear the worst. We don't know for sure yet, so Steve and I decided to pray our hardest for a miracle. We spent the Solemnity of the Sacred Heart of Jesus asking for a miracle, a complete and total healing of this baby in my womb, for the grace of a healthy son or daughter.
Am I insane? Because it kind of feels like it. But that urge, that desire to grown one's family, it's somethings just so much stronger than the fear of the unknown. I've never felt like my family was complete. Even after everything we've been through, and the odds that we've been given (which I now think are total crap, by the way) we were willing to take that chance, just having faith in a loving God who always cares for us and knows our needs. But I was so sure, we were both so sure that this would be the one. This would be the healthy baby that we have so longed for. Still we pray and hope. And feel a little insane.