Dear Abby: The Next Bump...

Tuesday May 6, 2014

Dear Abby,

Oh, little girl, it appears as though the journey we thought had ended a few weeks ago had really just begun. Last Wednesday I went in for your fetal echocardiogram, which we had really only kept as a formality after receiving the negative Harmony results, and I got to see your precious, squishy little self again. Dr. Wenckus was in a meeting when we finished, and I had to leave, so we scheduled a follow-up for the next day to go over the results and capture additional images if needed. Suffice it to say, the follow-up did not go how I was expecting. What I expected her to tell me was that your heart was fine, your arms and legs were still measuring a couple weeks behind, but that overall everything looked good. While it still seems that your heart is ok (I still haven’t actually heard from the pediatric cardiologist), and your limbs are still measuring behind, they found something else of concern: indications of craniosynostosis. I had never heard the word before, but Dr. Wenckus explained that the sutures, or fibrous tissue, that holds the plates of your skull together were prematurely fusing into bone. They were able to see this on the ultrasound because there were indentations in the skull outline on either side of your head, though more prominent on the right. The particular sutures that were presenting signs of craniosynostosis were the coronal sutures, that essentially run from one ear to the other. She explained that the craniosynostosis is isolated in 80-90% of cases, but in the other 10-20% is associated with a variety of rare syndromes that I’d never heard of. I took in as much information as I could, rapidly scribbling down notes about things like brachycephaly and mid-face hypoplasia, which I knew essentially nothing about. Maybe it was because of my lack of knowledge on the subject, or simply the fact that I was sitting there with Dr. Wenckus as opposed to on the phone, or maybe it was because the last five weeks were preparing me for this sort of news, but I didn’t have the uncontrollable emotional response that I did that first time Dr. Wenckus called with news of unexpected ultrasound findings. There was definitely a part of me that walked out of that appointment thinking, “well, there was bound to be something new.” I don’t know if that’s a good thing, or a very negative way to look at this pregnancy, but I think my brain is trying to find ways to keep from becoming overwhelmed. After taking yet another look at your anatomy (and determining that you may have mild left pyelectasis, but did NOT have six toes on one of your feet, which is something else they were concerned about), Dr. Wenckus let me know that they would be referring us off-base to Miami Valley Hospital for a second opinion.

It was a lot of information to take in, and I soon realized there would be a great deal more to absorb after looking up craniosynostosis and trying to get a handle on what your daddy and I would need to prepare ourselves for once you arrive. The implications were that you would need surgery performed on your skull whether or not there was a syndrome involved, and that you would probably need to wear a little helmet afterward to help your head grow nice and round. When I started looking up the syndromes, I won’t lie, I was quite overwhelmed. While quite rare, I couldn’t help but think that all of the markers we were looking at before, in addition to these new findings, probably indicated that there was a syndrome involved and that the craniosynostosis was not isolated. Though some of the more telling syndromic attributes were absent in your scans, it just seemed to make sense to me that everything would add up to one condition, one answer. But maybe it’s just not that simple. Maybe the craniosynostosis is what caused your thickened nuchal fold, and maybe your shortened arms and legs really are just inherited from a long line of Reids with short arms and legs. I don’t know, Abby, I just don’t know.

I was very nervous going into our Miami Valley Hospital appointment yesterday. I wasn’t sure I could handle any more news of your condition, and ultrasounds (although a beautiful opportunity to get to see you kicking around like a “wild child,” in the words of the sonographer) have become stressful. Watching them take your measurements and now being able to recognize when things look off have ceased to make the experience a relaxing one. After a while, Dr. Sonek (a well-known Maternal Fetal Medicine doctor in the specialty of fetal diagnosis) came in to talk about what he was seeing. He agreed that there appeared to be craniosynostosis of both coronal sutures, as well as possibly the sagittal suture. He said that based on the shape of your skull we were not looking at brachycephaly as Dr. Wenckus had thought, but dolichocephaly, though I don’t know what that really affects. After the scan was completed, I talked to Sara, a genetic counselor, about further options for testing, which included a fetal MRI (who knew there was such a thing) and amniocentesis. I still don’t want to risk the amniocentesis, as it was explained that it wouldn’t have any effect on your care if a syndrome was diagnosed, but accepted the fetal MRI recommendation in order to determine if the sagittal suture is actually involved, and how that will impact surgery once you arrive. Dr. Sonek also came back in to discuss things and mentioned that I have mild polyhydramnios - in other words, my amniotic fluid levels are too high. There are risks of preterm labor and delivery complications with polyhydramnios, and that we would need to keep a eye on it for the duration of the pregnancy.

I’m not sure where we go from here, Abby bird. It sounds as though everything will go back to Dr. Wenckus and then we will form a plan of action for the next few months. Hopefully we will be able to have that MRI done and talk to a neurosurgeon about what we’ll need to do for you once you’re born. We won’t know if your condition is syndromic or not until you’re here since we turned down the amnio, so all we can do is wait and pray that God has His hands on you and is taking care of you.

In other news, your daddy and I had the opportunity to go on vacation at the end of April and your daddy finally got to feel you kick! He’d been in Seattle since the end of March, and had to go back at the end of our week-long vacation, but I’m so glad he got to experience a little of the ninja dance party action that you’ve been entertaining me with for the last few weeks. He also stayed up late putting together your crib and dresser, even though he was exhausted and jet-lagged. We’re both lucky to have him.

I love you baby bird. Though the journey ahead may be difficult, we’ll get through this.

Love,
Your Mommy