Aug 21, 2019 Latest post:
Jun 19, 2020
We found out about Camille at only 3 weeks pregnant, which made waiting for my first OB appointment very tough. It took awhile to get an appointment and I wasn’t able to get scheduled for my first ultrasound until 12 weeks. I was getting anxious to hear her little heartbeat, so I went at 11 weeks to an early ultrasound place.
While the heartbeat sounded good, I couldn’t help but think that Camille looked very different than our daughter Esmèe had at the same gestational age. It looked like she had extra stuff around her and her head wasn’t perfectly round like E’s had been.
I joked with my husband that I was glad I had a medical ultrasound soon, since the first one looked a little crazy. I hoped it was just the sonographer or machine used that made her look so different. The day of my appointment finally arrived, but I was dreading it from the moment I woke up. I even told my mother in law, Kim, that I just had a feeling they were going to tell me something was wrong.
Kim went with me to the appointment and was excited when we saw the baby moving around and heard her little heartbeat, but I could tell by the length of time and the look on the tech’s face that she wasn’t as thrilled. I asked what the extra lines were around her tummy and the tech just said, “that’s baby’s sac.” Baby’s have sacs I know, but not this close to the body and this visible at 12 weeks. I was confused. Looking back, she was so professional about how she handled the ultrasound and I’m so grateful. She left the room and came back with a high risk doctor. Our conversation was a complete blur from which I only retained “cystic Hygroma 7mm, extra fluid around the baby, protrusion of the belly, heart issues or a fatal chromosomal disorder.” Thankfully he talked to me in depth and didn’t water anything down when I told him I had a biology background, but our conversation left me needing to do a lot of research. I asked him if I would be pushed to terminate, but he only replied, “that is an option.” We agreed to draw blood for an NIPT that day to check for genetic abnormalities but I was told repeatedly that while it was useful, it would not be considered diagnostic. A CVS or amniocentesis would be needed to confirm. I was also told repeatedly to expect the worst, babies like mine do not survive to the third trimester, much less to term. I really took that to heart.
My regular OB saw me and took time to share his and his wife’s story about their Trisomy 18 diagnosis with their second pregnancy. He didn’t examine me, just talked about the situation, person to person. The fact he had gone through a similar situation was so comforting. He told me if I should choose to terminate, he would help me get to the right place, as I was being seen at a catholic institution that does not perform abortions. While no one told me I should terminate, I gathered that it was very much expected in my situation. I left the appointment with no hope, only a heavy heart.
My husband John was deployed overseas and I had to place an American Red Cross message to inform him that something was wrong. Waiting 24 hours for him to call me was torture. He finally did, crushed about the news. His chain of command was very sympathetic, but did not let him come home with such vague information.
I had been hesitant to do anything with risk to the baby the day I got the news. After staying up all night researching, however, I was convinced the next morning that the follow up procedures we had discussed were inevitable. I didn’t want to drag out the process any longer. I knew I needed all the information I could get to be able to make any decisions. My husband and I walked through some of the most common scenarios over text. I admired him for saying he wanted to keep any baby that was viable that could enjoy life, even if it had a severe condition/deformity. I was humbled by his love for our unborn baby. I also felt guilty because it wasn’t so black and white for me. I couldn’t give any blanket statements about what I wanted to do when I didn’t know if we were dealing with a heart defect or severe chromosomal disorder.
I went ahead and scheduled the CVS without waiting for the NIPT results. Sometime before the appointment and against my logical side, I told John I had to carry this baby no matter what. I had read all the stats, all the research papers I could find, and tons of heartbreaking stories. But the mother in me overruled the scientist. I loved the baby already and couldn’t bring myself to decide when it should die. John said he supported me and we tried to prepare ourselves for the worst.
Doing the CVS right away ended up being the best course of action for us. During the appointment the baby was still moving great and had a perfect heartbeat, but the swelling looked like it might have gotten a tad worse in the last week - it definitely hadn’t gotten better. I got the NIPT results the next day, with a 50% chance of Turner syndrome. That was when I found out we were having a girl, and I asked John if we could name her Camille, which I had already picked out before the nightmare started. 24 hours later I got the CVS results which confirmed full Turner Syndrome, no mosaicism, meaning our baby is fully missing one of her X chromosomes.
I sent another message to Johns chain of command even though I was keeping him updated via text at this point. Unlike last time, they didn’t deny him leave right away but have kept us hanging for several days. I began reading everything I could get my hands on about Turner syndrome and felt confident about my decision to keep the baby. We were scared, but also relieved that we hadn’t gotten the worst-case-scenario. We both agreed to hope fiercely for the best outcome, a chance to meet and raise our little Camille.
I check her heartbeat every day with a Doppler and am waiting: for healing, for John to come home, for the next appointment, or to miscarry. It is frustrating being told to hope it all goes away and even worse when the news is ignored and we are pushed away. We have accepted the reality of our diagnosis, and want our friends and family to help us figure out what that looks like. That being said, we know most people don’t know how to respond to the news any more than we know how to process it. We really appreciate when people do their own research and then ask specific questions. It can be taxing to describe the whole story and Turner Syndrome over and over. We will keep this site updated as well as a tool to keep everyone informed.
I am completely humbled by this experience and can’t even describe how hard it is to keep going with every day routines with so much unknown. John and I know that God will use this situation, we just don’t know how yet. We are trying to be open-minded and open-hearted so that this situation will draw us closer together no matter what the outcome. We appreciate your prayers and support as we walk through this difficult journey.