As I alluded to in my last post, my determination to remain hopeful and positive throughout this pregnancy has already been challenged.
When we went along for our dating scan, we discovered I was actually further along than we had anticipated. I was still breastfeeding right up until I fell pregnant; it seems Leo self-weaned at the point of conception (not literally – I mean, whatever you’re into but personally that’s not my thing) and my periods hadn’t returned. For this reason, we had been very relaxed about trying to conceive, and were realistic about the fact that it may be difficult to fall pregnant until my cycles resumed. Turns out we were very fortunate to get pregnant after only a few months, something neither of us take for granted.
Antenatal Checks & Tests
The scan revealed that I was 15 weeks, so was too far gone for the combined screening test which is routinely offered, so instead we opted for the quadruple test which is available at 14-20 weeks gestation. Both tests are designed to assess a mother’s chance of having a baby with one of several genetic conditions which result from an extra copy of a chromosome. The combined test identifies the chance of a baby having Down’s syndrome, an extra copy of chromosome 21; Edwards’ syndrome, an extra copy of chromosome 18; and Patau’s syndrome, an extra copy of chromosome 13.
The quad test can only identify a mother’s chance of having a baby with Down’s syndrome, however a mid-pregnancy scan would usually reveal any physical abnormalities which could indicate Edwards’ and Patau’s. Each of these conditions are associated with a range of characteristics, and tragically both Edwards’ & Patau’s are very serious and most babies diagnosed will die before or shortly after birth. Down’s syndrome causes some level of learning disability and a person with this condition is at an increased risk of some health problems, such as heart conditions.
These tests are not compulsory, and the decision to have the screening test is a personal one. We have chosen to have it in all three of our pregnancies; with Findlay it just seemed like the ‘done thing’ and in all honesty I was fairly naïve to the fact that pregnancies resulted in anything other than a live, healthy baby. As a young, active, non-smoker, I had didn’t consider myself to be ‘at risk’ and fortunately our results came back as a less than 1 in 10,000 chance that Findlay had any one of these conditions.
Only a matter of months later, however, our blissful baby bubble was shattered when a routine scan revealed that Findlay had a serious heart condition, and within a matter of weeks he died and we were left utterly devastated.
There is a strong link between heart problems and genetic conditions such as Down’s, Edwards’ & Patau’s, so we agreed to a skin sampling as part of Findlay’s post-mortem to determine whether or not he had anything else. Our consultant thought it unlikely as he didn’t have any of the physical characteristics typically associated with such conditions, and the results showed that he didn’t. He had a broken heart; Hypoplastic Left Heart Syndrome typically affects fewer than 4 in 10,000 births and we were told it was ‘one of those things.’
Keeping Anxiety at Bay
Perhaps because of Findlay’s condition, and my heightened anxiety in pregnancy after loss, we chose to have the antenatal screenings again with both Leo and this pregnancy. With Leo our results came back similarly ‘low chance’ and so in all honesty I wasn’t too concerned when I waited the results from my quad test. We had an extra scan booked with Fetal Medicine a couple of weeks to check the heart for any indicators of structural abnormalities and that to me was a greater source of angst. Despite there being no genetic cause for Findlay’s condition, statistically we are four times more likely to have another baby with a congenital heart condition (not necessarily the same one) and I’ve never liked the sound of those odds.
My community midwife asked me at my appointment the following Wednesday whether or not I’d had my results back; I’d almost forgotten about them and said I would double check the post when I got home. No news is good news right? A change in NICE guidelines means the midwife no longer routinely listens in for baby’s heartbeat at 16 weeks, however my lovely midwife Leanne (who has seen me through all my pregnancies) did offer to try and find it with the Doppler, but emphasised that if she couldn’t then she would be unable to refer me to the hospital for further investigation.
With the scan date looming I was focussing all my energy on remaining positive and the thought of the Doppler finding nothing but silence filled me with dread. I have an anterior placenta this time and I was worried that might make the heartbeat more difficult to find, plus both the boys were always in ‘awkward’ positions whenever I went for appointments.
After some time discussing the various possible outcomes, I decided not to try and find it. We had seen the heartbeat pumping away only 6 days ago, and I knew that we would get chance to see this little one again in another 8 days. I’d hold on until then, and save myself the (potentially unnecessary) stress and worry. I left the appointment feeling a little disappointed but mainly proud of my resolve and my decision not to jeopardise my mental and emotional wellbeing. This was a far cry from the terrified fraught mother of before, who would breakdown the moment she entered the waiting room. Maybe I really was feeling more hopeful this time around.
Less than 24 hours, things looked a whole lot different.
Getting the Call
I don’t usually answer calls from withheld numbers, but as I pottered about the playroom trying to regain some semblance of order whilst Leo napped, I felt the buzz of my mobile and swiped without really thinking. Perhaps something in my unconscious compelled me to answer.
The voice on the other end sounded bright but sincere, asking if now was a good time to discuss the results of the quadruple test. ‘Of course,’ was my cheery reply, as I bundled bricks back into storage boxes and looked, perplexed, at the sock which was hanging from the radiator.
‘Mrs Burdett, I’m sorry to tell you that your screening results has placed you in the high risk category for Down’s syndrome.’
I stopped; the pile of picture books slipped from my grip as I steadied the phone which balanced precariously between my shoulder and ear. ‘I’m sorry, I think I misheard – what did you say?’
Somehow, I found myself on the floor, desperately trying to follow the string of words which came through the speaker. There was talk of hormone patterns, diagnostic tests, a brief (but clear) mention of ‘not continuing the pregnancy.’ In that moment, I was transported back to the sweltering day in June 2015, sat in the dark ultrasound room of the Norfolk & Norwich; the sonographer’s gel still cool on my stomach as the consultant turned to us and said, ‘I’m very sorry, it’s not good news.’
How was it possible that I found myself here again, in the turbulent waters of antenatal diagnosis? It seemed as though all my positivity and hope for the future evaporated, right there on the playroom floor; the dark storm cloud of anxiety blocking out the rays of light which I had been frantically clinging to.
Lightening Doesn’t Strike Twice
Once I steadied myself against the initial shock, allowing the time to start to process this news, I was able to see how this situation was different from Findlay’s. The screening results present a likelihood, rather than a certainty of Down’s syndrome, and a Down’s syndrome diagnosis (should we receive one) is not the same as a HLHS diagnosis. My rational brain is able to decipher the differences between the two, but in the hours and days which preceded the call, it wasn’t my rational brain which was in charge.
Throughout my pregnancy with Leo, I was terrified with the idea that he too wouldn’t be coming home. From the moment I discovered I was pregnant, I was convinced I would miscarry. Every trip to the bathroom filled was with dread that I would see blood, every twinge a sign that this was the end. Even when 16 week fetal medicine scan showed no discernible signs of cardiac complications, I still couldn’t allow myself to believe that we would get to keep him.
In losing Findlay, I had stumbled into a world where babies died, often with no apparent reason. The fact that this baby appeared healthy was in no way a guarantee that he would live; I knew now not to be that naïve. It is a fear which remains present even now, the worry that he will be injured, will choke, will catch meningitis or sepsis and suddenly be ripped from me. That something terrible will happen, and I will be powerless to save him.
Friends and family tried to reassure me, but to no avail. The recurring theme seemed to be that we had ‘suffered enough’ with losing Findlay; it wouldn’t happen again. Of course, this is not true, and tragically many families face recurrent losses, but remembering the fear and hopelessness I felt in my pregnancy with Leo, I have been trying to focus on the fact that this is a different baby, hopefully bringing with them a different outcome.
Feeling the Fault
With this in mind, it was hard not to feel a huge sense of injustice at the thought that once again we were faced with the prospect of not having a ‘healthy’ baby. My biggest concern was not, in fact, the idea of a Down’s syndrome diagnosis per se, but the increased risk of heart conditions which accompany it. What were the chances of one family having two children affected by two totally unrelated, but potentially life-limiting (or, as in Findlay’s case, fatal) conditions?
I could feel myself slipping towards the dark abyss which plagued the weeks and months following Findlay’s death: the place of self-loathing, guilt and utter despair. ‘I’ve been greedy,’ I thought to myself, ‘wanting another child. I should’ve just been grateful that Leo was born healthy. We have our rainbow; I don’t deserve another.’ Such cruel thoughts are painful (and perhaps to some degree – shameful) to recall, but this is the reality of how I felt.
I think any parent who has suffered the loss of a baby feels a huge sense of guilt and responsibility; for me, that guilt is that I had done something to make them unwell, to prevent them from growing ‘normally’ or as they ought to. When we learned of Findlay’s condition, I spent hours frantically Googling cardiac abnormalities and risk factors. Had that cold I had in early pregnancy actually been the flu? Had I taken ibroprofen before I knew I was pregnant? What had I done to mean that my perfect little baby, in fact wasn’t quite perfect after all? Findlay had half a heart – what did I do to stop him from having a full one?
As I’ve mentioned, the notion that I would be in the ‘high risk’ category for Down’s syndrome had never even occurred to me. I’m under 30, I have a healthy BMI, I don’t smoke, I’m not diabetic…as far as I could see there was nothing about this pregnancy which differed from the boys’ and my results had always come back as greater than 1 in 10,000 before.
None of it made sense.
But before I could allow myself to succumb to these feelings, to turn inwards on myself and my conflicted emotions and doubts, we had to take action. Scans were moved forward, further investigations were offered. Just as with Findlay, when a potential problem is identified, things move quickly. There is little time to wallow in self-pity.
Tom and I decided not to go ahead with the amniocentesis, the diagnostic test which would confirm whether or not this baby did indeed have Down’s syndrome. It’s a very personal thing, but for us the risk of miscarriage associated with such invasive tests seemed too high, and I knew that I couldn’t live with myself if something were to happen to this baby as the result of a procedure I chose to have. Again, this is just the decision which we felt was right for us; having already experienced the loss of one child I knew I wasn’t strong enough to take such risk. For other people, the need to know for certain whether or not their baby has a genetic condition outweighs the risks of the test. Everyone is different.
Perhaps due to our family history, we were most concerned about the potential complications a Down’s syndrome diagnosis can accompany, particularly problems with the heart. It was a concern shared by our consultant team, who arranged to have our ultrasound moved forward to allow for further investigations. At 16 weeks, it is too early to identify the broad spectrum of anomalies which can be identified at the 20 week scan, however severe cardiac defects can usually be seen. Plus, in light of my ‘high risk’ test result, the our consultant was on the lookout for indicators of any other fetal abnormalities which are commonly associated with Down’s syndrome. It was made clear that the only was to confirm a Down’s syndrome diagnosis was to have the amniocentesis, and should the scan reveal any further complications we would, again, be advised to have the procedure.
Who’s there to help?
Due to the risk of miscarriage, the decision to have a diagnostic test (whether CVS or amniocentesis) is not one which can be taken lightly. Trying to manage the conflicting emotions associated with such a decision, alongside the anxiety and uncertainty which accompany the news that your precious baby may have an abnormality, can be overwhelming and many parents don’t know where to turn.
Fortunately, there is an organisation there to support parents before, during and after antenatal screening, who provided non-directive information and support to parents who are making decisions around antenatal testing.
I first heard of ARC, Antenatal Results and Choices when our local hospital identified a problem with Findlay’s heart and referred us to Great Ormond Street. We were given a purple leaflet with the charity’s helpline number on it, as well as a booklet filled with information about ‘Making Difficult Decisions’ and ‘Coping with Bereavement’. At that time, I was reeling from the shock that our perfect baby could be anything other than perfect, and was in complete denial: convincing myself and Tom that we’d ‘trek all the way down to London only to be told that there’d been a mistake.’ Of course our baby was fine, how could anything else possibly be true?
I was proved devastatingly wrong; and a couple of weeks later, struggling to come to terms with Findlay’s death, I sought solace on the ARC forum. It was my first experience of speaking to other bereaved parents and it truly was a lifeline.
When I received the call about my quad results, I knew there was only one place I could go. For me, it was not a decision about whether or not we would continue the pregnancy, but I wanted to know what our options were if we chose not to have the amnio. The midwife on the phone had alluded to a non-invasive prenatal test (NIPT) not currently available on the NHS, and I needed to find out more. As I had hoped, the ARC website and support line provided all the information we needed.
NIPT involves a maternal blood test, thereby posing no risk to the baby; it is still considered a screening test as it analyses cell-free maternal and fetal DNA in the mother’s blood rather than taking a direct sample from the placenta or amniotic fluid as the diagnostic tests do. However it is a very sensitive screening test for Down’s syndrome, large scale studies show that the test has a detection rate of over 99%, and can also look for Edwards’ and Patau’s syndrome.
As this test is only available privately, unfortunately it is not an option for many families, although it may be offered on the NHS in the future. We were in the very fortunate position of having a small pot of savings which we had been keeping for emergencies, so decided to go ahead with the test. We concluded that ‘forewarned was forearmed’ and we would be able to better prepare ourselves for life with a baby with Down’s syndrome by knowing ahead of delivery. Tom and I also agreed that for our own emotional and mental wellbeing we needed to know – our anxieties couldn’t cope with 5 months of uncertainty.
Our consultant was able to do test privately, so the next day we went back to our local hospital for the blood test. The results could take up to 10 working days to come back, and with our ultrasound scheduled for a few days time all we could do was hold our breath and wait.
I am relieved to say that the ultrasound scan went well; our consultant was pleased that he could see no early indications of serious fetal abnormalities (including HLHS) and there was nothing which gave him cause to think our likelihood of Down’s syndrome was higher than the quad test had suggested. The scan itself is not enough to rule out Down’s syndrome, a diagnosis can only be obtained via CVS or amniocentesis, but there was no evidence of Edwards’ or Patau’s syndrome, both of which would likely to be seen at this stage.
Three days later, our NIPT results came back. The test categorises you as either a ‘High Probability’ which means there is a greater than 99% chance the baby has a genetic condition, or ‘Low Probability’ which is less than 1 in 10,000 likelihood.
I am thrilled to say my results came back as ‘Low Probability’ and our consultant was pleased that he couldn’t see anything on the ultrasound scan which indicated signs of major felt abnormalities, including HLHS.
It has been a very difficult few weeks; I feel as though my efforts to feel positive about this pregnancy have been shaken to their core, like I’ve taken one step forward and two steps back.
There was a moment when it seemed all the fears I harboured during my pregnancy with Leo were going to be realised, that once again we would find ourselves in the eye of the storm. This experience has been a stark reminder that nothing is certain, especially not in the post-loss world, and that pregnancy after loss is full of challenges, no matter how many times you do it.
Fortunately, for now, the skies seem to have cleared; our 20 week scan is only a couple of days away which will hopefully provide further reassurance that all is well with this little one.
Until then, all I can do is keep looking for the light, and try to keep my heart full of love and hope – that way there’s less room for fear, right?