Saturday, May 30, 2015

Update from 5/29

So yesterday was my appointment with the specialists at Maternal-Fetal Medicine.  We had a very long ultrasound, consult with the doctor, and consult with the genetic counselor.  

The ultrasound did confirm almost all the findings from last Thursday.  Some details, like the cleft palate and clubbed feet, were difficult to see because of Kate's positioning (hands in front of her face and legs over her head).  Also, ultrasound needs fluid for proper image transmission and there is very little fluid around sweet baby.  So there may be some new things that are discovered over time or once she's born.  For now, we know for certain she has a splayed cerebellum, recessed chin (micrognathia), severe heart defects (pulmonary artery issues and something else I think that I can't remember), small lungs/chest (due to low amniotic fluid), and enlarged kidneys.  All of these, once again, add up to life incompatibility.

And, once again, both the doctor and genetic counselor are unable to pinpoint an exact diagnosis for baby Kate.  They threw around names like Meckel-Gruber syndrome, Dandy-Walker syndrome, and Polycistic Kidney Disease (again), but none of these encompass all the anomalies together.  Trisomies have been ruled out.  They do, however, believe that Evie's and Kate's conditions are related, the common thread being the kidney issues and heart issues, although Evie's heart issues manifested differently.  Anyway ...

After much discussion with the genetic counselor and straight up asking her what she would do in this situation, we've decided to wait until Kate is born and then obtain cord blood and placental samples, as well as an autopsy report.  These will hopefully give us the information we need to determine if Josh and I are autosomal recessive carriers of some random genetic mutation that has caused these issues.  If that is the case, we have a 25% chance each pregnancy that the baby will be affected.  That's a pretty staggering statistic.  So for now we wait.  But I'm praying we can obtain some information after Kate passes away to determine what we should do regarding future children.  It's pretty scary.  There is faith but there are also facts.  So we'll see.  

As far as placenta previa and birth plan - the placenta is covering my cervix, making the traditional baby exit strategy impossible.  As my pregnancy progresses we'll see if anything changes (sometimes the placenta can migrate to a better location as the uterus grows.  Unfortunately, my uterus won't grow too much due to the low fluid), and if not, I'm sure Kate's birth will be a scheduled c-section.  That's something I haven't even thought much about yet, but the prospect scares me a little.  It'll also be strange to know the day that Kate will be born and die.  But I guess we'll cross that bridge when we get there.

So right now we're just living life per usual.  Getting our house ready for the market, getting excited to break ground for our new place, Josh about to start a new job, loving our kids, loving warm summer weather and dinner on the grill and trips to the beach.  And this dark little cloud hanging over our heads and the promise of something dreadful to come.  I promise we're ok ... life just feels strange.

Please keep the prayers coming.  I'm battling my old enemy, listlessness.  I remember it all too well after Evie's diagnosis and death.  But there's a lot to do these days so I can't let it win.  

I have a couple pictures but, they're in my bag.  And my bag's over there.  And then I'd have to somehow digitalize them ... and then download them onto my computer.  That's a lot of steps (and see aforementioned note on listlessness).  So the pics will have to wait.  

Thank you again friends.  Marching on ... 

5 comments:

  1. I think every line of this quote from pediatric E.R. doctor William Bonadio is so true. "When children die they don’t die alone. They take something from their parents. Life is changed, after something you held to be truly yours is taken away, is gone; and you realize it can never be the same again. You must start over, but with less, and can never fully believe in anything as being permanently yours." I would only like to add that the miraculous peace that passes understanding is very real, and I feel like we still have so very many things to celebrate and thank God for, and I just want to cherish all the treasures we still have.

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  2. Praying for you all and that God's tender grace will be all things that you need. Loving your dear family and trusting for that peace that passes understanding.

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  3. you are so brave and sweet in the face of your worst nightmare, happening again. You are being upheld by us, and many. I know we can't even scratch the surface with our words or actions - but Jesus knows and He is near the broken hhearted. Praying you will be sustained by Him though all the hard things you have to think about, all the hard choices you have to make, and all the grief that your heart has to suffer. Kate is beautiful, and loved, and always will be cherished.

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  4. Oh, Sarah, we pray without ceasing for you, Josh, Micah and Jocelyn. I am so sorry that you are having to walk this hard road again. Hold tight to the One who holds you in the palm of His hand!

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  5. Sarah, I am so sad with you and Josh and your families. We are lifting you in prayer, asking the Holy Spirit to intercede on your behalf. We love you

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