Nearly a year after terminating my pregnancy at 20 weeks, I’m now six months pregnant and hoping to welcome a baby in around three months’ time. The course between the two experiences hasn’t been plain sailing and I wanted to write this piece to firstly give anyone who wants to try again after a termination for genetic issues an example of a journey to a new pregnancy, and secondly to open the conversation around how we all talk about high risk pregnancies.
Just before I left the hospital after delivering my daughter at twenty weeks, one of the midwives who had been caring for me quietly said goodbye, and in her parting words gave me a kernel of hope which would grow over time. As a midwife, she told me she had seen so many women sit where I was, then come back in a year or two and have healthy babies. At the time, I was too bewildered to take her words on board; it felt like it wasn’t something that was relevant to me, the only baby I could think about was the one I wasn’t going home with. But as the weeks and months passed, I started to think more about what she had said and slowly started to build up the courage to imagine that maybe I would be one of those women.
Within a month of the termination I had a massive urge to try and get pregnant again. I wanted to fill the gaping hole left in my womb and life, my hormones were still telling me I should be pregnant. I felt the creep of desperation for my period to come so I could know better when to conceive. As I was 36 and had taken a year to conceive my first child, I also felt the damned clock ticking. But I also knew I was emotionally and physically in no place to be peeing on sticks and having scheduled sex or going through months of fatigue and sickness should I be lucky enough to conceive quickly. I was so depleted in every sense of the word. On top of that, we knew our baby had a genetic issue, so we wanted to get the autopsy results back before we even considered going through it all again.
Eight weeks after delivery, at the end of January this year, we were called back into hospital for one of the most baffling appointments I’ve ever had. We were told that our baby ‘probably’ had skeletal dysplasia which was the diagnosis given via sonograph, but that it was a one-off (de novo) mutation and we should feel free to start trying again if we wanted to. Again, we were told our baby was a little girl—which we hadn’t ever wanted to know—and then there was a very brief discussion of how I was doing mentally and if I had any suicidal thoughts.
It was all wrapped up in four or five minutes. Now, I’m no genetic pro, but I’ve got a rudimentary understanding of inheritance and what I should have picked up on was that my partner hadn’t been tested for anything. There also wasn’t a mention of whether I was a carrier of any of the genes that might cause skeletal dysplasia, or any specific genetic diagnosis. I should have asked lots of questions, but I didn’t. What can I say? I wasn’t on my most astute form, still swimming upstream and anyway, private medicine and second opinions is a world that is all still new to me. Ultimately, I’ve just always trusted what any doctor tells me, so we just took the advice at face value and started talking about whether we were ready.
Thoughts of trying again however proved a moot point as my period went AWOL. My first cycle came about three weeks after the termination and was heavy. After the delivery, I struggled with tampons, so for some absolutely unknown reason I decided to try a moon cup for the first time during a moment when my toddler was also on prime rampage form. To say it was a disaster is an understatement—Grey ended up jumping off the side of his bed headfirst while I was in the loo, I ended up in a pool of tears and blood in the bathroom feeling like I was broken physically and that I was probably going to need a hysterectomy. I can’t really describe the panic of that day, which of course was all wrapped up in the sheer heartbreak that I had my period without our baby in the first place. It was one of those mad moments which ultimately you look back in and see the humour in, but it really wasn’t very funny at the time.
“I got really caught up with it all, read books about how to improve my egg quality and started to feel like it was all my fault for what had happened with our little girl’s genetic mutation.”
After that my cycle didn’t recalibrate and three months later, I went to see a gynaecologist and had tests for PCOS and other cycle abnormalities. They found that I had adenomyosis, a condition where cells of the lining of the womb are found in uterine muscle, which may have an impact on fertility, but my doctor reassured me that it was normal for the body to take a beat that the issue wouldn’t necessarily impact any future attempts to conceive. She gave me the same advice I’ve had at other times when my cycle got disrupted: get as much sleep as possible, no heavy exercise, eat healthily with lots of good fats and de-stress in whichever ways works best for me. It all sounds so easy, but as I was writing a book while looking after my son full time—like so many of us during lockdown, performing an insane juggling act every day—I just wasn’t really sure how I was supposed to do any of the above. I got really caught up with it all, read books about how to improve my egg quality and started to feel like it was all my fault for what had happened with our little girl’s genetic mutation. It must have been what I was drinking, or because I was a smoker in my twenties, my mobile phone or petrochemical exposure… or because I was playing outside when the Chernobyl explosion happened… I was really struggling mentally and knew if I spoke to anyone about it too deeply they would probably think I was losing it. I definitely felt like I was unravelling.
I didn’t grow up with any religious sentiment, however, I was influenced a lot by my nan and great aunts who cared for me a lot as a child and teenager as my mum was a single, working mother. My nan left school at 14 and was very superstitious. She wasn’t able to get much education and grew up as she would say it, ‘dirt poor’. Her parents were very folksy in their beliefs and there was a lot of witchy, supernatural belief. While I am both an atheist and a rationalist, some of her ideas are buried deeply in my DNA and my superstitions during this time burst out and I became, I suppose, a little compulsive. I definitely grew obsessed with birds—magpies in particular—feeling sure that something dreadful was about to befall me if I saw a single monochrome wing flutter by me. It felt like I was being plagued by them, as I would wake day after day and look out of the window and see just the one magpie seemingly waiting for me, or else there would another sitting on our outside bin when I came out with the rubbish, or perched on a single branch above me as I came back from the supermarket. I knew it was completely ridiculous, but I started crossing my fingers when I crossed anyone on the stairs and feeling nervous about umbrellas at home. I thought a lot about my nan who would smash a jam jar at the back of the garden any time she broke something precious to ‘balance’ the bad energy. I felt like maybe I was cursed, and I needed to do something like that to reset the equilibrium. We’d had a lot of other bad luck within our family and with the pandemic raging all around, it just felt like there was a black mark against me, or anyone that touched me.
“I was clinging on to anything I could to make me feel like I has some semblance of control, something that resembled a system, something completely opposite to the simple story of bad fortune.”
Superstition is often described as the fear of the unknown. It can be related to magic, ignorance and a faulty conception of fate or causality. On paper I don’t buy any of it. In real life however, I found I was talking about it and thinking about it a lot. Birds have been associated with death for centuries, grief, as the moving book by Max Porter says, is a thing with feathers. Looking back on it, it’s clear that I was just clinging on to anything I could to make me feel like I had some semblance of control, something that resembled a system, something which was completely opposite to the simple story of bad fortune. I think after this year, a lot of us have been seeking comfort outside the boundaries of where we would have ever looked before.
In early May I had to run out to get some nappies at dusk and looked up at the tree outside of my house and saw, I’m not kidding, probably about 50 magpies. It turns out we had a mega nest of black and white birds who just happened to make my view their home for the spring. Soon after they were gone and at the beginning of June, I found out I was pregnant. I was of course, so happy, but also hugely fearful at the same time. Those worries were about to get a lot worse as I received a call from a NHS geneticist saying that he was reviewing all the terminations in North West London from the past six months and realised that I had somehow been ‘lost’ in the system and hadn’t had either the standard tests or results that we should have had. I didn’t tell him I was pregnant in the first call, because I just thought it was probably a standard box ticking exercise, but when we spoke via the lockdown-mandated Zoom appointment, he told me that while he didn’t want to directly contradict his colleague who had given us the autopsy debrief in January, there was insufficient information to make the conclusions we had been given. He said that we were looking at an up to 25% chance of recurrence and that there was a strong possibility that the problem was in fact, hereditary.
After I told him we were expecting, we were asked to come in that day for blood tests and our samples were sent off along with our baby’s genetic information to Great Ormond Street. There were then weeks to wait until we got the results. The first finding was that our little girl didn’t have skeletal dysplasia and instead she had a severe case of osteogenesis imperfecta (known as glass bone or brittle bone syndrome) which is caused by a mutation on the gene which creates cartilage. In good news, neither my partner or I had the mutation, even though it is normally an inherited condition. However, due to a phenomenon called gonadal mosaicism, there was an increased chance of other eggs or sperm cells having the same mutation – estimated in around 3-5% of births. So, we were looking at a one in 20 chance the new baby would have OI too. As the occurrence in the population is 1/20,000 births, that meant we were about 1,000 times more likely than an average couple to have another baby with the issue and that would be the case with any baby we were to conceive.
“He said that we would be looking at an up to 25% chance of recurrence and that there was a strong possibility that the problem was in fact, hereditary.”
There are eight forms of OI and our little girl had a variation which would have probably meant she would have died during birth or shortly after, as her ribcage wouldn’t have been able to support her respiratory system. This variation would be visible on a scan at some point between 16-20 weeks. However, there were also cases within families where different kinds of OI expressed themselves amongst siblings, meaning there was always the chance that the baby could have a milder form of the syndrome which wouldn’t necessarily be discernible on a scan. While a baby affected with a milder form would be able to live a relatively normal life, there would likely be multiple bone fractures in childhood and a high risk of deafness in adulthood as well as a long list of other potential complications. The only way to know for sure would be to do a CVS (chorionic villus sampling) at 13 weeks or an amniocentesis at around 16 weeks. Both are invasive tests and come with a risk of causing miscarriage.
We went around the houses for weeks trying to work out what would be best for our family and best for me. There were a few options. We could have terminated then attempted to conceive via IVF employing embryo screening for somewhere in the region of £10-£20k, with no guarantees. We were also offered an exploratory opportunity to try new non-invasive genetic screening (like the Harmony test) but again, it would be thousands of pounds without any surety that they would either a) be able to create the test or b) glean any reliable results. Plus, we were on a timeline which the lab might not be able to work within. In the end, we decided to go ahead with the pregnancy, have extra scans and if the baby were show any signs of OI, we would have the amino. If there was no indication of the syndrome, but the baby did end up having a milder form, we decided that we would be able to cope with the implications of that as a family.
“At every scan, I have prepared myself mentally for the reality that I might have to take a pill after the scan and that within a few days I wouldn’t be pregnant any more.”
This has all been a lot and really not what anyone imagines when they think they want a baby. I didn’t sleep for months and while the scans every fortnight or so have been reassuring afterwards, I have found them hugely traumatic at the time, bringing back all the terrible memories. At every scan, I have prepared myself mentally for the reality that I might have to take a pill after the scan and that within a few days I wouldn’t be pregnant any more. Privately, I’ve spoken to a few other women who have been through similar pregnancies and gone through terminations. Whether they or their partner had an inherited genetic problem, or had babies with different genetic issues, the stories are all the same: stress, worry, very little support.
I’m clearly no psychologist, but I will say one thing. It’s impossible to be pregnant with a baby who you know has a higher chance of genetic issues after having just lost a baby at 20 weeks and not worry. I work hard every day to keep those anxieties under control, but sometimes I am not successful. One of the hardest parts for me has been other people’s responses to my concerns. Ranging from, ‘the baby will be perfect, stop worrying,’ to ‘stress will only harm the baby,’ to, ‘at least you know what to expect if you have to terminate again,’ it’s really clear to me that the silence around these higher risk pregnancy experiences has meant that we collectively don’t know what to say. Just to reassure all my friends and family, if you’ve said anything like the above to me, I totally understand because I would have probably said something similar had I not been through this. I’m also not the oracle and other women might feel very different and want to hear that their baby is going to be perfect. I just wanted to share this one perspective in a bid to talk about how we support women going through these difficult months.
Silencing a pregnant women’s anxieties is a massive issue which goes well-beyond genetic issues, but constantly being told by everyone you know that they are SURE this baby is going to be just fine when you know that there are no certainties made me feel like I should keep my worries to myself and that I was coming across as overly negative. In retrospect, far more helpful would have been a response which acknowledged my worries as legitimate. At the beginning when I told a friend that there was a one in four chance this baby would be sick, he said, ‘those seem like good odds to me!’ Perhaps it’s because we don’t recognize these unborn babes as children, but I thought at the time, what would he think if he were told one in four members of his family were likely going to die. Would he see the odds to be so ‘good’?
The ‘your worrying is going to hurt the baby’ is a big one from the older generation. After one woman congratulated me, I said something like “we hope it will all work out,” and she told me not to be so silly and that ‘talk like that only harms the baby’. There is still the urge to blame mothers for pregnancy outcomes; something which those of us who lose our babies do anyway. Yes, we all know stress has the potential to cause birth issues like low birth weight, but how does criticising a worried pregnant woman about her stress levels help in any way? What we need is someone to talk it out with and rationalise our fears. Since this pregnancy started, I haven’t been offered any mental health support by the NHS. I have told them outright that I am struggling, yet no further questions have been asked. I’m fortunate enough to be able to pay for support; what about those who can’t?
For anyone who thinks that losing a second baby would be easier than losing the first – a kind of first cut is the deepest attitude – I do get where the thinking comes from. Yes, you would know the process, there wouldn’t be quite as much fear and you would be battle-experienced to deal with the fallout. But, you would have also lost two of your children, two people from your family. For me, I know this is my last pregnancy because physically and mentally I couldn’t go through it again, so that would also be the end of that journey for me. Personally, it feels the heartache would be more than a sum of the parts, rather than less.
“I was congratulated hundreds of times on my last pregnancy and that baby isn’t here with us; accepting congratulations when you’re steeling yourself against a not so happy ending is tough.”
And then there’s the word that we all say when we see an obviously pregnant belly. “Congratulations!” You do, I do it, it’s the only real accepted way to greet an obviously blooming woman or someone who tells you they are pregnant. I have really struggled with it and I know I’m not the only woman going through a rainbow pregnancy who has felt that way. Being congratulated on a pregnancy you know you might have to terminate can feel really complicated when you’re steeling yourself against a not so happy ending. I was congratulated hundreds of times on my last pregnancy and that baby isn’t here with us. I’ve felt like I glaze over and reply with a robotic ‘thank you,’ trying to disassociate myself from the words, though as the pregnancy has progressed it has become easier to take on board the kind wishes. I absolutely know everyone means well, just as I’ve meant well when I’ve said it other women. I don’t have an answer, perhaps we should all just say ‘such good luck with everything’ instead of offering congrats before the fact? Most probably I’m just very sensitive at the moment and might feel differently about it in the future, but in the here and now it has taken me some time to manage.
One of the best pieces of advice I’ve received over the past six months came from my geneticist. He is a fatalistic man and spoke my language: “you are going to be worried until this baby is in your arms and until you receive the genetic tests back after the birth—and if you weren’t there would be something unusual about you. Your only job is to work out ways to cope within that context.”
Obviously, he has seen sat beside families who have gone through countless different, yet similar experiences to us, so he sees pregnancy from a very different perspective than say, a midwife, who sees a majority of positive outcomes. But, I found solace in his understanding that with every conception comes with a risk. He also told us, “of course, there is a chance we could find something totally different wrong with your baby, just like any couple,” and rather than making me spin faster, that statement made me feel reassured that we hadn’t done something unbelievably irresponsible and stupid by getting pregnant again. More the simple fact is that things can go wrong for anyone.
We still have a road to go as I enter my third trimester. At 20 weeks, I screened positive for an unrelated placental blood supply issue, but I’m taking the doctor’s advice and not focusing on that information too much and instead waiting to see what the next scans show. I Googled it a couple of months ago, so I know what ‘Intrauterine Growth Restriction’ means and what it can entail, but I haven’t looked online since. Yes, it’s at the back of my mind, but I’ve employed the same strategy as I have for the rest of the pregnancy: one week at a time, one scan at a time. I’m cautiously optimistic that it’s all going to work out, but that doesn’t mean that I don’t have fear daggers from time to time (especially at night). That is just my context.
I know that I’ve not fully accepted that there is a baby coming in three months though, and I think that is a natural self-protection mechanism. This is definitely not a glowing, bouncy pregnancy story, as much as I feel fortunate every day that we have been lucky enough to have this chance of another child. But, I hope that by being frank about it, others who have had a similar experience will feel seen. We have to find space to speak the truth to our routes to motherhood, if not for others who follow, then for our own sanity. It’s not a surprise that the stories we hear come mostly from those in the majority who have a positive outcome; that doesn’t mean that families who are pregnant with higher risk births should be silenced into believing that their worries are unduly pessimistic or even that having anxieties is something to be blamed for.
From the magpies to the mooncups, I can definitely laugh at myself and I’m aware that some of what I’ve written above is a bit bonkers. I didn’t want to censor it now I’m feeling better, because I know there will be other women having out of character, out-there moments too. It’s part of the whole grieving process and I don’t think any of us should feel any embarrassment about our idiosyncratic ways of managing trauma. Overall, I feel like I have coped with these months as well as could be expected. Pregnancy hormones and sickness always make me a bit of a downer, but I’ve tried to find my courage and be brave at every stage. We have a big scan coming up, I’m now not losing sleep over it, though I’m sure on the day I will find it hard. I’m still not tempting fate, but nor am I counting birds or thinking about throwing jam jars at the back of the garden. We hope, we stay positive, we keep our fingers crossed and that is entirely and utterly normal for any family going through something like this.