Sarah Rieke » Living. Loving. Pressing on.

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 … 

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