Right Aortic Arch

This post has been on the tip of my fingertips for a a little while. But only now does it feel right to talk about it.

On the 13th, we had our 20 week anomaly scan. The night before I found I couldn’t sleep and unlike with Pippa’s scan, I was pretty nervous this time round. My head was buzzing and I laid in bed contemplating so many things. The 12th was my first day back at work so put it down to that at the time but in hindsight I’m sure it was gut instinct. The lady was very chatty whilst scanning me, talking about what she was looking at and why, commenting on how different aspects looked ‘lovely and fine’ and then how the baby was wriggling enough that she couldn’t always see what she needed. There was knock on the door and another sonographer popped her head in to ask a question, then, instead of leaving, she entered the room and started studying another screen displaying our babies images in the corner of the room. They kept ‘umm-ing’ and ‘err-ing’ over something. Then it began to click that something wasn’t right… After this, things become pretty blurry to me as my emotions raced away with me.  Something was wrong with our baby. My baby boy who I been able to feel moving and kicking for the last three weeks. I remember asking what it all meant but they couldn’t really answer, just said we needed to be urgently referred to the fetal cardiology unit at another hospital. We left, shaky, upset, confused and desperately in need of knowing what was going on with our boy.

The next day we had a call from the fetal cardiology unit at St. Michaels Hopsital who offered us an appointment first thing on the Friday (15th). Whilst in the waiting room, there was a ‘young man’, I would say caring for his daughter (probably only a year old,) but I’m not sure you can count it as that as he was shouting and swearing at her continually. Calling her a f”*cking dickhead isn’t my idea of good parenting. Abusive more like. His partner was in one of the scan rooms having a scan for their second (I presume) baby and when she came out, nothing but profanity came out of his mouth. “I bet its another f”*king girl isn’t it”. I was sat there worrying about my own baby but also desperately wanting to take theirs home with me too. Those kids don’t deserve that.

Our scan lasted roughly half an hour. The sonographer and consultant only looked at the heart. Checking absolutely everything about it. They confirmed that yes, our baby definitely had a ‘Right Aortic Arch’ (RAA) but everything else looked completely normal. There were no signs of cardiac disease and all of the vessels connected in the right places, just on the right side instead of the left. They also double checked that there was no cleft lip/palate. But we weren’t in the clear by any means. She informed us that they have only been able to scan/check the vessels for the last 3-4 years so it could be that there are many many people out there with a right aortic arch which we don’t know about with no associated complications. The current prevalence is about 0.01% of the population. However, there is a strong association with RAA and a syndrome called DiGeorge (or its scientific name 22q11 deletion).

DiGeorge syndrome is a rare condition which has a vast spectrum of severity. There are cases of people having it but you (or they) wouldn’t even know but other cases where the person is severely disabled with a long list of serious health conditions, learning difficulties, physical deformities and mental health problems. Some of the common symptoms include developmental delay, learning disabilities, ADHD and autism.  We knew we wouldn’t be faced with the more structural abnormalities such as cardiac disease or cleft lip/palate which was at least reassuring. Because of this I initially had hope that, if our boy did have it, then surely it couldn’t be severe… However the consultant was quick to say although it was true that those abnormalities didn’t exist, they would never be able to tell us how severely the baby would be affected in other ways.

I grew up with a severely disabled sister. She suffered with severe Cerebral Palsy as a result of birth asphyxiation. She sadly died at the age of 6. I was very young when all of this happened, but I can remember how she had absolutely no life at all and neither did my family. I used to feel sad that the only real memories I had as a young child was spent with my dear Nan and Grandad (who I miss very much), not with my Mum and Dad. How awful of me to feel like that? I have such lovely, precious memories of spending time with Nanny and Grandad. Sammy NEVER had that. She never had anything. She was a shell. I have always been of the opinion that as much as we loved her, she shouldn’t have been allowed to live like that. It was cruel beyond belief. A dog would have been put down for less.

I don’t want that for my baby boy. I don’t want that for Pippa. And selfishly I also don’t want that for myself or my husband either.  My mum didn’t have a choice. But if that’s what we are faced with, we do. So when sat with the uncertainty that laid before us, there was no doubt in my mind that we needed to know more.

In terms of cardiology at St. Mikes, they were happy that we didn’t need to be seen again so we were referred back to Southmead Fetal Medicine. We were seen by the Consultant on the following Monday morning (18th) and had an Amniocentesis. Genetic testing was the only why to know for sure whether our baby boy had the syndrome or not. I was actually really surprised by the procedure itself. You would think that a ruddy great needle going through your stomach into your uterus would hurt… But is really didn’t!!! They don’t use any local anaesthetic and it honestly hurt less than having blood taken! As soon as I realised it didn’t hurt I opened my eyes and put my head up to try and have a look! After the procedure, the Fetal Medicine Midwife took us into the counselling room, took our bloods and then proceeded to tell us when we would get the results. We could expect the initial test which looked at Down’s, Edward’s and Patau’s Syndrome back in 3 days as that was a relatively simple test. I wasn’t worried about this one at all as our first trimester screening came back with a risk of 1:10,000+ (I can’t remember exactly). However, the more relevant test to us was the microarray. An extensive test which will exclude any abnormalities in each chromosome. DiGeorge Syndrome would only be picked up on this test. They said it could take as long as 10 working days to get the results.

Up to this point our care had all been delivered exceptionally quick, we had had 3 appointments with 3 specialities over 2 different hospitals in the space of 6 days, including the weekend in between. We had had both good and bad news very quickly. The thought of then having to wait 2 weeks for a definitive answer seemed like absolute torture. The day after the amnio I felt very miserable and I got myself into a right slump. Actually, being that depressed was really exhausting so after allowing myself that day, I picked myself up and genuinely felt OK about it all for a while. You can’t feel sad about something that hasn’t happened yet right? I also found a bit of research that suggested that with no other risk factors or abnormalities associated, there was a relatively low risk for chromosomal abnormality. But it was only a small study so I couldn’t pin everything on it.

As time went on the wait started to get to me. Luckily, the way my shifts fell, I didn’t need to work until a week after having the amnio. As we expected, we got the initial results back in a couple of days and they were normal. But a week on we were still awaiting the microarray results. I was meant to be working that night (25th) and had spent the whole day slowly working myself up about not having heard more news yet. But I was determined to at least try and go to work… When I got there and walked into the staff room, a few there were talking about “extracting dead babies from women in labour”. Actual words used.  It made me feel physically sick. No one there knew what I was going though but it hit home to me that working on a delivery suite, where babies like mine can be terminated, probably wasn’t a good idea. My work colleagues were (I think, I missed most of the conversation) talking about women in 3rd world countries but the matter of factness about it completely freaked me out. I know in any other circumstance I wouldn’t have thought that much about such a conversation as tragedy is unfortunately part of the job. For me, right then, it was too much. I ended up crying on the midwife in charge and getting sent home. I shouldn’t have gone in.

I have never willed my phone to ring so much as I have the last few days. I must have turned the screen on a million times just to make sure I hadn’t missed a call. Pippa has has so many hugs that have been for me way more than they have been for her. The longer we waited, the more the significance of the result played on my mind. With every day passing, I have been more and more aware of how much stronger he is kicking me and how much harder the decision would be if the worst was to happen. We are over half way through this pregnancy. If he was to be born now, there would be a small chance he could live, under different circumstances. I was starting to wonder whether I would ever be able to live with myself if we were to end his life. Maybe knowing he was a boy made this feeling worse. I don’t know. What if we were faced with the same decisions with Pippa, knowing how amazing she is now. Who could he become given the chance?

This morning my phone rang and the news was good. The microarray results were completely NORMAL! No reason for his right aortic arch at all! We are all in the clear. It’s just a rare variant! Cardiology at St. Mikes want to see him after he is born for an echo just as a precaution but that is it! We can carry on as normal and forget all of this heartache! It took a while for the news to sink in. We had prepared ourselves for the worst so it took a moment for that feeling to lift.

I am so grateful for what we have. Good health is taken for granted. Our NHS is taken for granted.