I’ve spent a lot of time this month thinking about what has happened in the last year. August 2017 our world changed. After a series of appointments with specialists and tests performed it was confirmed: our baby girl, Harper, had a genetic condition called 22q11 Deletion also known as DiGeorge Syndrome.
On August 16th 2017 I was 21 weeks pregnant and had gone to the appointment that started it all by myself. You see, at the 20-week anatomy screen the technician had not been able to get some of the pictures she needed. She said that the baby wasn’t cooperating and I had an empty bladder or some other light- hearted explanation. She said that they would either have me come back in a few weeks to try again, when the baby was bigger. Or, send me over to the hospital, “where they have higher caliber equipment. No big deal the baby is just being stubborn.” Based off of what she said, I didn’t think much of it. Even when my OB’s office called to tell me when my appointment at the hospital was, I didn’t think much of it. I figured they didn’t want to run the risk of the same issue coming up with their equipment, so they sent me over to the specialist.
They called me back into the room . There was a screen up on the wall and chairs for guests to sit in as the technician viewed the baby. I leaned back on the table and lifted my shirt, chatting with the technician. As she squirted the gel on my belly and started to move the wand around I explained that my husband was at home with our toddler aged son. The three of us had gone to the anatomy screen together, but big brother was not interested in cooperating. We opted to keep him at home for this appointment and our regularly scheduled childcare happened to not be available that afternoon. There was some other small chat and then we both kind of ran out of things to talk about.
I laid there looking at pictures of my baby on the screen, most of which were not cute baby shots. She was trying to get specific views and what I saw I could not identify but I knew it was part of our baby’s body – the human being growing inside of me. I could see movements and her heart beating. I could see that she would move away from the wand, something she continue to do through the numerous sonograms we had throughout the rest of my pregnancy. Time went on and the technician asked me to roll from one side to the other. Then asked her supervisor to come in to assist. It hit me, something isn’t right. I remember starting to tear up. I looked at the empty chairs in the room. I thought about my husband, wishing he were there with me. They had me roll from one side to another again, they had me lay flat and tilt the table so my head was at a little bit of a decline. They pushed hard into my belly – trying to see what they needed to. I kept looking at the screen, lost because I didn’t know what they were looking for and I didn’t know what I was looking at. Then they called the doctor in. She looked at some of the pictures they had already taken then watched some live shots. They were talking amongst themselves. I remember that I didn’t feel like they were trying to hide anything from me or exclude me. They were trying to work together to understand what they were seeing. But I was still scared. Now tears were rolling out the sides of my eyes, into my ears or onto the paper on the table. The original technician wiped the gel off of me and left the room. Then the supervisor offered to help me sit up, but I wasn’t big enough to need it yet.
So there I was, sitting on the table with the technician’s supervisor moving the equipment away and the doctor began to explain what they saw. Harper had a heart defect, a right sided aorta. There is often a vascular ring that develops with such a diagnosis but at this point they could not see if that in fact was present. A vascular ring is a combination of the right sided aorta and ligaments that create a ring around the esophagus. It could impact her ability to breath and swallow. At only 21 weeks there could be more issues identified as she grew. The doctor explained that at that time there was no way of knowing if Harper would need surgery immediately after she was born or if we would be able to wait a couple of days, maybe even weeks. She explained that a heart defect such as this could be due to a genetic condition or an anatomical anomaly. According to her about 30% of the time this is related to a genetic disorder and if it was then it could be a lot more involved… a lot more could be wrong. The doctor provided me with information regarding genetic testing and pointed out that I was already 21 weeks along. If I was considering termination based on the information I had just found out or based on the results of the genetic testing I would want to make the decision quickly (before I ran out of time).
They left the room and I composed myself. I texted my husband and said I would call him when I got to the car. I called but he didn’t answer. I texted and said “coming home I’ll just talk to you then.” My mind was racing as I drove home, I kept telling myself to focus on the road. He came out to meet me as I was getting out of the car. We made eye contact through the windshield and I lost it. I started crying and could only spit out, “there is something wrong with her heart.” I eventually explained the appointment the best I could. We were both lost but agreed that it would be wise to have the genetic testing done. We opted for the blood work versus the amnio. We received the results of the blood work on August 28th and they indicated that there was a microdeletion in the 22nd chromosome. With that test there was some .00001% chance that I had the deletion not Harper, so I insisted we have the amnio too. That would confirm that she was the one with the deletion, not me. Well at 24 weeks pregnant it was confirmed that our Harper had 22q11 deletion with a heart defect that is common in such a diagnosis.
As it turns out, to date the issues with her heart are so mild that it looks like they may not require any intervention whatsoever.