What Does It All Mean?

In the time between the amino and the next ultrasound, we researched Turner Syndrome. Some of it was encouraging. We read a couple of articles that said 99% of babies with Turner Syndrome are miscarried in the first trimester and we were well past that point. We read articles that women with Turner Syndrome could live very normal, happy lives with very few problems.

But some of it was troubling, like the statistics that said 95% of Turner Syndrome babies are miscarried or stillborn. And some of the common issues with the disorder include fairly serious heart and kidney problems.

Turner Syndrome is when an individual has one X chromosome instead of two. A healthy female would have two X chromosomes and a healthy male would have one X and one Y. Because Luna only has one X, she is missing a whole set of important genes. We could see this very clearly on the karyotype, which is a picture of the chromosomes arranged in order by number. The sex chromosomes are listed last, and there is clearly a big gap.

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The ultrasound we had following the diagnosis gave us even more information because now they were very clear about what the issues were. She still had a very large cystic hygroma which you can see on the image below (if you are any good at deciphering ultrasound images). The small oval to the lower right is her skull, like we are looking down at the top of her head. The large black bubble above it is the hygroma.

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She still had lots of fluid in her chest and abdomen, which was causing problems with her organ development. This is a serious condition called hydrops. They are concerned about her heart and had me schedule an echocardiogram. Her brain was still showing the Dandy-Walker malformation. They did find some small, underdeveloped kidneys and her stomach which they had not seen before.

The doctor told us that we should not expect her to survive. In his patient history, every baby with these issues has not made it to delivery. Then he told us that he has never seen a baby with these issues make it this far. He seemed surprised that she was still alive and kept saying that he had no idea what to tell us about our baby. He said he couldn’t give us advice because he had no idea what was going on. Then he said, “You just have to trust that someone is in charge.”

We laughed. Patrick tells him exactly who is in charge.

And now we are in a wait-and-see pattern. We have ultrasounds every two weeks, echocardiograms to look at her heart, regular OB appointments and a million excuses to check and make sure her heartbeat is still going strong.

One of the best experiences with this whole thing was showing my students the sonogram pictures and explaining to them exactly what is going on. I interpreted the ultrasounds, showed them the karyotype and gave them the opportunity to ask questions. I am not afraid to talk about the medical issues; in fact, the medical issues are the part that I understand the most and feel the most comfortable discussing. It’s the awkward hugging and pity stares that I am not good at. 😉

I am not surprised but we have truly the most amazing students at MACA. They were understanding and mature and interested. I know that they are sincere in their concern and in their prayers and in their love. My MACA students, I love you. You teach me so much about compassion.

Colossians 1:3-5
3 We always thank God, the Father of our Lord Jesus Christ, when we pray for you, 4 because we have heard of your faith in Christ Jesus and of the love you have for all God’s people— 5 the faith and love that spring from the hope stored up for you in heaven and about which you have already heard in the true message of the gospel

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2 thoughts on “What Does It All Mean?

  1. i am so encouraged and inspired by your faith in this situation. your sonogram stories take me back to my sonogram w/ gav. our tech also left abruptly, but never told us what was going on. we didn’t find out his issues ’til birth. regardless, God blesses us through gav, much like he blesses you (and in turn all of us reading along) through luna. on gav’s baby announcements i put 1 sam 1:27, “i prayed for this child, and the Lord has granted me what i asked of him.” it wasn’t until gav’s first surgery that i absorbed the next verse, “so now i give him to the Lord. for his whole life he will be given over to the Lord.” i find freedom in this verse. praying you will too. much love!

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