Saturday, January 18, 2014

So Many Thoughts...

Last Wednesday was our ultrasound with perinatologist and geneticist in Topeka. Our minds are still swirling. The geneticist met us first, and asked us to explain what's going on, went over health history of both sides, and questioned the FISH results being normal with the characteristics shown on the ultrasound. She wasn't convinced Trisomy is off the table yet. In fact, at one point at the end, she even asked to clarify that we were indeed continuing on with this pregnancy. YES.

Walked out of that appointment in tears because the word Trisomy came back up our throats. A few other genetic syndromes such as Turner's or Noonan's came up...Alan wasn't convinced of anything just yet and reassured me to wait for the ultrasound before we got too worked up.

Ultrasound was long. Nearly 45 minutes of measurement after measurement. The sonotech was nice, but quiet, though she reassured us it was simply because the doctor likes to give the results. Didn't help. She switched to 3D at one point and we saw her cleft palate. She continued on, measuring the heart, watching the splotches of red and blue circulate through it to determine how it's working, but again, not saying a word.

Finally the perinatologist came in, introduced herself, and asked us to start from the beginning and explain what all has gone on in the last month. Even after repeating our story so many times, I get so overwhelmed I can't even remember half the details. Finally she said that from the images she saw already, that there wasn't a lot of good news. Insert sobs, which is hard when you're on your back trying to have a sono done. She then performed an ultrasound herself so A) she could see firsthand, and B) to explain things to us.

-Praise that there is NO fluid in Chloe's brain. In fact, the doctor questioned if it was really there in the first ultrasound because her brain looks completely normal now.

-Praise that there is NO fluid in or around Chloe's lungs. Again, we praise because this was certainly present on that first ultrasound.

-Fluid on neck is still there, and this is the marker for chromosomal abnormalities, hence why this doctor also brought back up the word Trisomy again. This is where we get concerned and (well, at least I freak out) and worry that the FISH results were not correct. The doctor wasn't sure how nothing cultured out of the amnio sample, and was convinced they must have tested my (maternal) cells by mistake. We'll get back to this in a moment...

-Cleft Palate

-Possible club foot, although later we realized that we each have a relative that was born with club feet. Praying this is its own thing and not related to all the other issues.

-Kidneys looked ok-a bit smaller (or was it larger?) that normal, but she actually said this was the least of her concerns today. She said she could see her stomach as well, which is good because it wasn't seen on the original ultrasound. Seeing it means Chloe is at least able to swallow something, since it's showing up in the stomach.

-She is measuring small, not by dates, but just by...who knows...everything? So techincally, we're back to being at 23 weeks as of tomorrow, but measuring 21.5 weeks (2.5 weeks small).

-Heart defect. This is the huge thing, obviously. Not sure exactly, even after she explained it to us, but Chloe is missing one of the chambers, or it's so tiny it's unseen yet, on the right side of her heart, the side/part that pumps the blood out to the body and lungs for oxygen.

Where we go from here:
We discussed if it is Trisomy still, depending on results from another amnio, and was told if it's Trisomy 13, then the baby could pass on its own still in the 2nd trimester. If it's Trisomy 18, most likely hours after birth it would pass away. If these are the cases, most likely delivery in Manhattan.

If FISH and amnio results come back NEGATIVE for Trisomy (seems they've almost completely taken Downs off the list), then we breathe a HUGE sigh of relief, and focus on her heart. We start seeing a cardiologist over at Children's Mercy in Kansas City, start doing more ultrasounds to watch her heart and really learn how her heart is functioning so they can know what surgery to do, and it'd mean delivery at Children's in KC, with immediate surgery for her, which of course means things like cardiac PICU or NICU (I don't know these terms just yet...), long stay in OB over there...the list scares me. But trusting Him.

We left discouraged and encouraged, if that makes any sense. In some ways, thankful there's no fluid in brain or on lungs as these were also markers or characteristics of chromosomal syndromes, so we are thankful those are gone and look healthy and normal. However, still discouraged about the fluid on the neck since it's such a huge marker. Alan was so good to keep me focused when my mind was freaking out again about doing another amnio and the possibility of it still being Trisomy.

Our doctor scheduled us asap for another amnio on Thursday. He was amazing and got a clear sample this time. We talked over how the appointments went, and he is encouraging us that he spoke directly with the doctor who cultured and read the original FISH test, and that doctor was convinced he tested the fetal cells and not my cells, which gives us great hope that it's still negative.

Prayer Requests:
-That the FISH results would be in soon and still be NEGATIVE. Please, please pray for this. This would mean we focus on heart and our daughter has a fighting chance for a normal life after heart surgery at birth. That if this is the case, He would begin to work in us to prepare us for all of this...

-That the fluid on her neck would begin to go down to normal (it's 10mm now, should be 5mm).

-That she would start to catch up in size to where she should be.

-Wisdom for Dr. Priddle, and all doctors and nurses helping us through this.

-That God would bring her healing.

Trying to get through one day at a time. Please, until we know the results, help us to focus that it's not Trisomy...not just yet...let us take one thing at a time, one result at a time. Thankful and praising Him that the amnio went well and I am feeling...well, as good as I can right now in light of two amnios in less than a month. Thank you again to all who have helped us, watched the kids, brought meals, sent cards, and so on. We are grateful for each and every one of you.

"Now to Him who is able to do far more abundantly beyond all that we ask or think, according to the power that works within us."-Ephesians 3:20

"So do not fear, for I am with you; do not be dismayed, for I am your God. I will strengthen you and help you; I will uphold you with my righteous right hand." -Isaiah 41:10

"He gives strength to the weary and increases the power of the weak." -Isaiah 40:29

"When you pass through waters, I will be with you; and when you pass through rivers, they will not sweep over you. When you walk through the fire, you will not be burned; the flames will not set you ablaze. For I am the Lord, your God..." -Isaiah 43:2-3

"In the same way, the Spirit help us in our weakness. We do not know what we ought to pray for, but the Spirit Himself intercedes for us with groans that words cannot express." -Romans 8:26


  1. Jodie...(tears)....I love you, Know I am here for you in any way I can be.