Yesterday afternoon I decided to call our specialist and see if their genetic counselor had any results for us from our Amnio. I was able to talk to her right away with the result. Ruby Jean has been diagnosed with Trisomy 18. Trisomy 18 occurs when a baby has three chromosomes in the eighteenth position instead of the normal two. It is also called Edwards syndrome and is the second most common trisomy, after Trisomy 21 (Down syndrome). It occurs in about 1:5000 to 1:8000 births. . Edwards Syndrome is usually fatal, with most of the babies dying before birth and those who do make it to birth typically living only a few days. However, a small number of babies (10%) live at least one year. This type of trisomy is not hereditary.
Receiving the news did not come as a shock to me. At the ultrasound and during our time with the genetic counselor last week, they all seemed to lean in that direction. Most of Ruby's issues all seemed to be "markers" of Trisomy 18. But no one could tell us for sure without amnio results. I think John and I both hoped to stun the doctors a bit and have it come back negative but I wasnt resting everything on that.
We are both in a sort of fog. Neither of us have cried or become angry but I believe neither of us have really let is totally sink in. I have been on a website this morning reading a families story and journey through this, reading their "birth plan" and trying to write down the proper questions for our dr. As well as questions John and I need to answer together.
Dr Cole (our OBGYN) just informed me this morning that he will continue to see me once a month but if we ever wanna come in just to check her heart rate we are welcome. He told me to contact him if I stop feeling fetal movement but there should be no signs of "labor" anytime. That it would probably only be through an ultrasound or fetal check-up that they would know if Ruby has passed.
At this point there is nothing more we can do but create a birth plan for the idea of loosing her in the womb and then delivering or to make a birth plan for going full term, in hopes we may spend minutes, hours, days, weeks or possibly months with her.
We continue to trust that God has her in the palm of His hands. Every detail, every moment. As much as we choose to plan to make our time with Ruby memorable, we know He has it all under control and will bless our experience no matter the outcome!
This website has been a good resource for me so far and if you'd like to learn more about Trisomy 18 and their journey click here or you can try trisomy 18