Friday we met with a genetic counselor who talked to us about our ultrasound findings and answered our questions as best she could. She was very knowledgeable with fetal biology and chromosome makeup to teach us about the different possibilities with chromosome abnormalities. She also told us about a 4th marker that we were not informed about: Baby Girl’s femur bones are slightly shorter than they should be.
All of these four markers are pointing towards Down Syndrome. I've had so many “what ifs” this week that honestly, if I can't have a 100% healthy baby, Downs would be my next choice. All her symptoms do not point towards the other 3 possibilities; Trisomy 18, Trisomy 13 or Monosomy X.
It was a lot to digest in less than 2 hours, we still had some tears because that “20%” chance seems ridiculous to us now. The counselor said 20% was a conservative guess. They took my blood Friday and will test the chromosomes. We’re fairly confident it will come back with 99% Trisomy 21 [Downs Syndrome]. The results will come back in 1 1/2 - 2 weeks.
Tim and I have talked a lot and we’re okay. I think the hardest part will be having her stomach and heart surgeries after birth to correct her defects. If we can get past that, we feel things will be fine. She will have a normal life, we just want to make sure she has the best quality of life she can. Tim and I feel our lives shouldn’t shift too drastically. There’s no reason we can’t have fun with friends, go out now and then and participate in what we normally do. We don’t want people feeling sorry for us and expect to keep up with friends and family as we do now.
I still have a range of emotions, but sadness and anger are not part of it. Imagining children in special needs homes, or seeing children who can’t walk or feed themselves due to chromosome abnormalities - THAT would be heartbreaking. Possible Down Syndrome? We’ll figure it out.
Again, this isn’t certain, but all signs are pointing towards it. I think once the test results come back, we can all focus and prepare for Baby Girl in September!
Thanks again for support and love.
You guys are fantastic! Like I said, "lucky little girl to have you for parents!" Love you all!
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