Down syndrome, Ivy Joy, loss, prenatal diagnosis, twin loss

What’s Been Happening…

“Don’t be afraid, I’ve redeemed you. I’ve called your name. You’re mine. When you’re in over your head, I’ll be there with you. When you’re in rough waters, you will not go down. When you’re between a rock and a hard place, it won’t be a dead end— Because I am God, your personal God, The Holy of Israel, your Savior.” Isaiah 43:2-3

​It has been awhile since I have written here. Honestly, finding words isn’t always my strong suit especially in the midst of all that has been going on. So I’m starting out with a more factual post just to share some updates. I decided to be fairly detailed as I wish I had been able to find more personal accounts of going through something like this.

Last month, my wonderful Gramma went to be with Jesus as I sat by her bedside with a few of my aunts and my Grandfather. It was peaceful and the best thing for her, but it was still hard. She celebrated 92 years of life, 70 years married to her sweetheart, mothered 7 children, grandmothered 18 grandchildren,  and was a great grandmother to 10 great grandchildren. She was kind, generous, supportive… and I was blessed to have her in my life for 31 years. Oh how I cling to the knowledge that she is with God and I will see her again someday. In fact, when I told Zoe that Gigi would be going to heaven soon, she easily replied “Oh Gigi will be so excited to hold baby Willow!”

Soon after that, I went for a routine 20 week ultrasound for our sweet survivor baby. All seemed well while I was in with the tech. Little girl seriously never holds still, and the tech spent a lot of time taking pictures and measuring everything! I texted Sam and a few others to tell them how well she was growing and moving around. I went in to see my OB next. After a normal check-in, she casually brought up a bright spot that was visible on the baby’s heart. She said that it was called an echogenic foci and that while it was nothing at all to be concerned about as it would not affect her heart in any way, it was considered a soft marker for Down syndrome. And that’s about where my brain stopped working. She mentioned something about not being able to see some other things because the baby was moving so much, and said that I would need a follow up appointment at Maternal Fetal Medicine to get a special ultrasound. I walked out of that appointment in a daze. There had already been so much heartache and anxiety with this pregnancy, did I really have to deal with more? I called Sam who to his credit remained very calm and did his best to calm me down as well. I called MFM the next day to set up the ultrasound and found out we’d have to wait a little over two weeks for the appointment.

The waiting was hard. However we did have my Gramma’s funeral during that time and spending time with family was helpful. Then it was spring break. We were able to spend some wonderful time in North Carolina with one of Sam’s brothers and his wife which was very sweet. The kids had a blast, and it was just nice to get away as a family.

Sam and I went to the ultrasound appointment together on a Monday afternoon. I have to just say that the care we received at Maternal Fetal Medicine was amazing. The woman who checked us in, the ultrasound tech, and the doctor were all so kind and compassionate. We watched in awe as the ultrasound tech took picture after picture of our sweet baby girl. True to her personality so far, she was wiggling up a storm, but the tech was patient and spent over an hour getting all the images needed. Because I of course had done some research leading up to the appointment, there were things that I noticed like the overall flattened profile, the measurements of her humorous and femur bones that were a couple weeks behind her head measurement. Those things stuck out to me yes, but at the same time all I could do was marvel at this child being woven together in my womb. She was clearly so strong and vital. The doctor came in after reviewing the images taken by the tech. He said there were six markers for Down syndrome that could be seen on the ultrasound: flattened profile, absent nasal bone, shortened humorous and femur bones, the echogenic foci, and excess amniotic fluid. He talked about the loss of our other baby and that if this baby did indeed have Down syndrome, there was a good chance that it had been an identical twin pregnancy and the chromosomal abnormality was what caused our other tiny one to die. He talked about testing possibilities if we wanted to know for sure. They have a great new way to separate fetal cells right from a mother’s blood which gives them the ability to test for things like Down syndrome and other chromosomal issues. However this would not be an option for us because my blood carries fetal cells from both babies still and there is no way for them to know the difference. The other option was an amniocentesis. Immediately I said ‘no’ because of what I’ve heard about the risks. He was very understanding but did let us know that the risk of miscarriage is really only 0.5% and because I was at 24 weeks, it would be preterm labor that we’d worry about with that tiny risk. Also, the excess fluid I was carrying would make it easier for them to perform the procedure. We left that appointment with a lot to process.

I thought a lot. I cried a bit. I talked to family and friends. In my heart, I felt pretty certain that our sweet little girl had Down syndrome. However, the not knowing for sure was so hard. I pictured what it would be like to wait for 14-16 more weeks. Then I pictured her day of birth if we didn’t know for sure. I knew that would be the first thing I would be looking for. And if she had those telltale features would I cry? Would I spend one of the best days of my life in tears adjusting to a new future. The more I thought about it, the more I considered getting the amnio done. It wouldn’t change anything about keeping this sweet girl or loving her more than the stars, but I really did think that it would help to have some time to adjust and prepare if needed.

With all that in mind, I called MFM back two days later and asked to schedule an amnio. They happened to have a cancellation that day which was quite wonderful so I didn’t have to spend a lot of time worrying about the procedure. Sam wasn’t able to get out of work on such short notice, so my wonderful mother-in-law came with me. She held my hand as the doctor inserted a needle into my stomach and uterus to remove a small amount of amniotic fluid. I was so terrified, but it really wasn’t too bad. It didn’t hurt much worse than a normal shot and was just a little strange feeling as it took a few minutes to get the fluid out. Then it was done. The doctor kindly told us that we should hear the results of the FISH test within two days and then the karyotype results after a couple weeks.  For those of you who don’t know (which is probably everybody because who knows this stuff!) a FISH test is a fairly quick test they are able to run on chromosomes 13, 18, 21, and the sex chromosomes because they are the most common for trisomies (or three copies). From what I understand, it basically involves introducing a fluorescent probe that binds to certain chromosomes. When viewed under a microscope, it is easy to see whether there are two or three copies of each chromosome (typically there are only two). The karyotype is when they actually grow cells from the amniotic fluid and then separate all the chromosomes. This one shows abnormalities with any chromosome and also shows more details about the abnormalities.

I was expecting to hear from the doctor on Friday morning. I was going to be on a field trip and was hoping I’d get the call before or after. So much to my surprise, my phone rang on Thursday afternoon in the middle of a meeting. I recognized the number so I excused myself to take the call. I knew what the doctor was going to say. I knew it, but even still as he said the words “The FISH test confirmed that your daughter does have Down syndrome.” the tears started to fall. Those words felt so scary. Of course it did not change how much we love and anticipate the arrival of our sweet girl, but it did change the ‘picture’ I had in my head. It added possible health complications as the doctor set up a fetal echocardiogram to check for heart defects. I admit that my heart felt fear and sadness in those moments. I sat in the hallway at school and prayed. I told my heavenly Father what He already knows so well… “She is yours Lord. You created her in your image. She is fearfully and wonderfully made. She is so very loved.” I asked Him for ‘strength for today and bright hope for tomorrow’. And then when words failed I just sat in the knowledge that even now He was holding me tightly in His hands.

It has been a little over a week now since that phone call. I still have moments of sadness, but they are more and more making way for joy and anticipation. This little girl is so very precious and so loved already. I cannot wait to meet her and cover her sweet face in kisses. My moments of fear and anxiety can still be overwhelming. So much seems unknown and the unknown is scary. We don’t know what (if any) health complications she may face because of her extra chromosome. When I feel pulled under by these thoughts, I keep repeating the verse above. That is the truth and I will claim that over my life and this sweet little girl’s.

I know that so many of you have us in your thoughts and prayers, and I so appreciate that. We have a scan of sweet girl’s heart next Wednesday morning, and would love as many prayers as we can get! Most importantly I hope that you will eagerly anticipate the arrival of this little survivor baby with us. We can’t wait to see what God has in store for her life!

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