Monday, January 27, 2014

Results Update: Next Stop-Children's Mercy

The final results from the amniocentesis came in today, and the results show mosaic trisomy 22.  What this means is that some of the cells in the baby have trisomy 22, and some of the cells are completely normal.  This means that probably the previous FISH were fetal cells, but cells were the normal cells.  Of the 20 cells they were able to culture out, about half of them were trisomy 22. 

Although it is hard to hear that our baby does have trisomy, this is positive news.  If the test had come back that it was complete trisomy 22 for example, then the baby would not likely survive to birth.  Also, if the baby had complete trisomy 22 or trisomy 13 or 18, doctors will not intervene because those conditions are "not compatible with life."  In the case of trisomy 21 (down syndrome), for example, doctors would medically intervene.  In the case of mosaic trisomy 22, the doctors will also intervene if possible as the few cases of mosaic trisomy 22 are born and live.  

This is a very rare condition.  Our doctor told us today that there are only 15 cases in medical literature.  Those cases are all over the place medically with a whole slew of different symptoms and severity.  In other words, until this baby is born, only the Lord knows what symptoms and severity Chloe will have.  

Going forward, we will have an appointment with the pediatric echo-cardiologist at Children's Mercy late this week or early next week.  That doctor will determine whether the heart defect Chloe has is operable.  If so, then we will plan to have the baby in Kansas City, and they will perform heart surgery on her immediately after birth.  Please pray that the heart defect is operable, as this will give her the best chance for life.  

With mosaic trisomy, the chance for miscarriage drops dramatically, and we are looking at a live birth.  This obviously lifts a weight for us. 

Prayer Requests:
-That Chloe's heart defect is operable and God places her (and us) in the hands of great surgeons and grants them wisdom as we gather information on her heart.

-For safety in travel to and from KC, and for healthy sitters for the kids.

-That God would continue to bring healing to Chloe. We believe He has already done so by removing the fluid from her brain and lungs between the first two ultrasounds. Please pray that He would heal her and that she would be strong to get through the surgeries she'll need after she is born.

-Our hearts to know how to love and be there for Isaac and Abi as we spend so much time at appointments.

-For our hearts. Even though this is essentially good news, it's still so overwhelming, especially not knowing the 
extent of her condition until she's born. Pray that we would seek wisdom from the Lord for our daughter through this process. 

-That the Lord would bless us with amazing doctors, both OB/delivery and Chloe's neonatal doctors and nurses, and continue to grant wisdom to our doctor here as well. 

-That it isn't complete Trisomy and there is great hope now that she'll be ok after surgery.

-For amazing ways the Lord continues to work in this journey...between the two ultrasounds we've had, there's question about our actual due date and her size. Fortunately, by the Lord's grace, we happened to have an early ultrasound at 8 weeks to check heartbeat before we headed home to Iowa, and put our minds at ease that our baby was ok since I had cramping early on. These type of ultrasounds are considered "fun ultrasounds" meaning we get to see her, but they do not take measurements or anything and the doctors don't even see them-no record is kept. In Chloe's case, our sonotech just happened to measure her crown to rump length (CRL) and even though the doctor's had no record of it, we kept the images, and praise the Lord the size is recorded on it, so that will give our doctor the missing info he needs to better determine her actual dates (we've been given 3 different dates from 3 different doctors based on 3 different ultrasounds-we need peace of mind knowing what week we actually are and how small she really is). Every week counts, so we're thankful for this piece of the puzzle to help better determine what week we are. Thankful He is in all the details. Thankful He went ahead of us and knew we'd need that early ultrasound.

Finally, again, thank you so much to all those praying for us and the many ways you show your support for us. We are blessed. 


  1. Sending all the love & prayers I have. Chloe is one lucky lady to have such an amazing family <3

  2. I can't wait to meet Chloe. I feel so close to her already! Lifting her and you guys to the heavens.

  3. Love the praises. Continuing to pray!

  4. Praying for you all from India!
    Not sure if you've already seen this blog, but I've been following it for a year and a half. Nora was born with Trisomy 18 and has been living and doing well! I know it's not the same as Chloe's condition but it might be encouraging to.

  5. We continue to lift you up in prayer! The site has support and help and stories of hope of kids that have many different trisomies and continue to astound drs that thought they were not compatible with life. Also visit where you can apply for a grant for $5000 that helps parents of children with any health challenge pay for surgery and therapy. God is in control! The one who knows the number of hairs on our head...HE knows the paths we will take and carries us when we feel we can't go on. Our hearts are with you.