Down Syndrome - my story
Our son Daniel was diagnosed ante-natally with Down Syndrome in May 2012. Below is the story of my pregnancy.
I've also had a number of articles published:
This article in Green Parent magazine on gentle parenting a child with DS was awarded 'Highly Commended' in their Writing Competition 2016.
This article was published on Kindred Mom's website as part of their series on pregnancy.
In May 2012, not only were we half way through a big renovation and extension project at our house, we were half way through our first pregnancy. My husband Colin was also off work after significant surgery for his Crohn's disease and I was in my industry's 'busy season' - life was quite stressful.
16 week scan
Our first '20 week scan', also known as the 'big scan' was on 3 May. We had already had a private scan at 16 weeksfor two reasons. Firstly, our initial scan-to check the pregnancy was ok and how many babies there were-was very brief. I think it lasted about 60-70 seconds, and I didn't actually see the heart beating - although the midwife did. Both of us were keen to see little Twiglet some more and not feel rushed. Secondly, I had been very ill for a few weeks around 12-14 weeks. Not only was I being very sick and had lost weight, I got bronchitis and tore a couple of intercostal muscles from the severe coughing fits. The doctors had put me on an antibiotic as it lasted a couple of weeks without improving. I just felt slightly nervous about this, and wanted some reassurance that Twiglet was doing ok. The private scan was a lovely experience. We got to watch Twiglet thrust its arms and legs about for 20 minutes.
With my vast experience of ante-natal scans and the benefit of hindsight, I can see that the scan didn’t go as well as it might have. The NHS in Northern Ireland don’t carry out the testing that is carried out elsewhere, e.g. blood tests giving you a ‘1 in X chance’ of a baby with Down’s Syndromeor the nuchal fold. However, as this was a private scan, the nuchal fold was looked at. We hadn’t specified we wanted or didn’t want this to be carried out, but I remember Colin being slightly concerned that the sonographer pointed out the nuchal fold was a little high. It measured 5.2mm at 16 weeks. There is no normal range at 16 weeks as there is not usually an ante-natal scan at this point in a pregnancy, but anything above 6mm at 20 weeks is considered higher risk. She pointed this out to us, and asked us to get the sonographer at our 20 week scan to check the nuchal fold out, as it wouldn’t be checked in a normal NI NHS scan. I admit to googling this when we got home, and did find some studies which suggested it was a problem, but I also remember reassuring Colin that it would all be ok.
The ‘anomaly scan’
Roll on 3 May. I felt apprehensive that morning, like a nagging feeling deep down that something might not be right. Colin was the excited one, I remember him thinking we might get to see if Twiglet was a boy or a girl – even though we were hoping to keep this a surprise. The scan was after work, and again, with the benefit of hindsight, it did not go well at all. In fact, the sonographer abandoned the scan. It’s funny how your brain plays tricks with you. I’m not an anxious person and am an optimist, so I didn’t pick up on the signals that all was not well. I read the NHS booklet in advance which explained that sometimes the scan does not show everything they need to check, so you may be called back. It's called the anomaly scan because it checks for structural abnormalities (anomalies) in the baby. It specifically mentioned that in a minority, but not insignificant number of scans, you will be called back as they can’t see everything, particularly the stomach if baby hasn’t swallowed any amniotic fluid recently. So, when the sonographer couldn’t find a stomach, I wasn’t that concerned.
Especially as she could see the bladder and I wrongly assumed the stomach connected to the bladder (it doesn't) - in fact I voiced that out loud and she did not correct me, which looking back she should have. She spent a very long time looking at the lower part of Twiglet’s body. So long in fact that I was clearly able to see that Twiglet was a boy, even though the Ulster Hospital doesn’t tell you the baby’s gender. I remember lying there thinking, “That is definitely a penis I’m looking at, isn’t it?”. After about half an hour of the scan, the sonographer explained that she hadn’t been able to find a stomach, but reassured us that this could be because baby hadn’t drunk anything recently. She also said 9 times out of 10 when she calls people back, that there’s nothing wrong, but she always liked to have someone else look. I don’t remember her mentioning that the repeat scan wouldn’t be with a sonographer but with the obstetric consultant.
Colin then mentioned the private scan we had highlighting the issue with the nuchal fold. At this point, again with hindsight, she clearly was concerned, and she pulled the mouse over the nuchal fold on the scan. The computer had been playing up a bit during the scan and she clearly clicked on one side of the fold to take the measurement and pulled the mouse over the fold. I saw the figure 6.5mm appear onscreen. She didn’t register it though and tried again. She dropped the mouse again before the measurement registered on the screen, but it was about 6.7mm. Looking back, she clearly realised something was wrong, but she just said that the scanner was playing up and that it would make sense to just measure the nuchal fold when we were back the next week.
We left the room, and there was barely anyone left in the maternity unit as it was so late, maybe about 5.45pm. I needed the toilet but asked Colin if he’d seen the baby’s gender. We did a 1, 2, 3, say the gender and both of us said boy, so we were pretty certain we were right! We briefly got excited at our little boy and as Colin waited outside the midwife’s room, I went to the toilet. When I returned Colin had gone very quiet and I remember thinking, “Oh, he’s disappointed with a boy”. The reality was, Colin had realised all was not well, but knew I hadn’t picked this up, and he didn’t want to worry me. The midwife then went over the top to be nice to us, again I can see this with hindsight, she also realised something was wrong. I am rhesus negative and the standard practice is to give the Anti-D injections without checking the father’s blood type (if he is also rhesus negative there is no need for the injections as baby will be negative too) as positive blood types make up 85% of the population and it would be too costly to check each father. There are also issues where the question of paternity could be questioned. However, the midwife went out of her way to check Colin's blood type even though it wasn’t standard practice. (He's A- too, so no Anti-D required, RESULT!)
The 21 week scan – repeat anomaly scan
On 10 May, we returned to the Ulster Hospital for our repeat scan. Apart from family and a few close friends we hadn’t made it public knowledge that the first scan had thrown up problems. The scan was at 10am, so I was pleased I didn’t have to spend all day at work worrying. I was surprised when it was a consultant who came out to see me, and I thought “Oh, I was expecting another sonographer” and also remember thinking there were a lot of people in the room. However, once baby was up on screen again, I started talking to the consultant excitedly and wasn’t worried about the scan.
I have described to many people that I as I reflect on those weeks that all the dots were there, and the doctors and midwifes had clearly joined them up by this point. Colin had put a few together and could see an outline picture. I meanwhile was aware of the dots, but hadn’t seen any connection between them. The consultant momentarily thought he saw a stomach, but he hadn’t. Colin went very quiet and I remember hearing the hushed whispers of all the other people in the room – there was the deputy midwife for the Ulster Hospital, another midwife, the consultant and another doctor but I still didn’t realise the scan wasn’t going well!
After another long scan, the consultant got me to sit back down beside Colin and as he started to talk I caught the eye of the midwife across the room and she, probably involuntarily, tilted her head and gave me a sympathetic look. It was at that point I realised that we were about to get ‘bad news’. Words like, ‘malformation’, ‘no stomach’, ‘soft markers for Down’s Syndrome’, ‘amniocentesis’ floated around in my head as I tried not to start crying. At this point the consultant pointed out all may still be ok, and I remember thinking, “Well Nicola, you better not be dramatic and start crying as everything could be completely normal”.
We left the hospital knowing we had to make a decision about whether to have an amniocentesis, mainly to confirm the diagnosis and help doctors with their planning for Twiglet’s birth and treatment. I was also going to be transferred to the Royal, and probably require a planned delivery, but this would depend on the outcome of the tests and scans. The senior midwife followed us out and was very understanding. As she walked off, we stood in the entrance to the Ulster Maternity unit and cried. We made it to the car and cried some more. I texted my boss (I couldn’t have spoken to anyone at this point) to say the scan hadn’t gone well and I wouldn’t make it in to work. She said that was fine, so we headed home to my parents where we were living as we did our extension. My poor dad had no idea how to deal with my tears, and my mum popped round from work as we sat around the kitchen table and cried. I can’t actually remember how we spent that day off work although we phoned our elder Philip to ask him to mobilise the church in prayer for our little baby. That led to some lovely texts, phonecalls and emails from our family at Kirkpatrick and gave us both a boost.
By evening, Colin and I were both able to step back a bit from the shock of the morning, and had phoned the hospital to request the amnio. As much as anything, we wanted to know for definite and ensure we and the doctors were prepared for the road ahead. Looking back I can see how I didn’t feel a lot of the ‘grief’ emotions people go through when they get bad news – denial, anger, bargaining, depression and acceptance. I know people do react differently, but for us the first day felt like a bit of grief for the child we thought we were having. The next morning, I think I jumped straight to acceptance. God gave us both a great deal of peace and happiness with the situation we found ourselves in and I am sure this was the specific prayer of many of our friends. I went back to work on the Friday, and ended up working late as I found work to be a welcome distraction from googling all the words the consultant had mentioned the day before.
Colin’s birthday - 21 May
Colin spent his second birthday in a row in theatre having surgery for his Crohn’s. My amnio was late on the next day, a Tuesday, and it was wonderful to have him out of hospital in order to attend the procedure with me. It went fine, the consultant (a different one this time) couldn’t find a stomach as consistent with previous scans and they told us the Down’s result would be fast-tracked as there were so many soft markers - the high nuchal fold measurement, shorter limbs - along with not being able to find a stomach. Normally you have to pay for the quick turnaround of results. The head midwife at the hospital dealt with us directly (and we didn’t need to wait in the normal waiting areas, got a lovely little waiting room of our own!) and said she’d phone by the end of the week. By this point I was pretty certain Twiglet had Down’s and just wanted confirmation that it wasn’t some of the other chromosome disorders.
The end of May is the busiest time of year in my office so time off isn’t allowed and as luck would have it, for my two days of bed rest, the weather was glorious. I felt very guilty lying on the sofa with the French doors open onto the beautiful garden filled with sun. It was fantastic though! I just relaxed, listened to music and read those few days. Within 48 hours the hospital rang. I chickened out of taking the call, so Colin did. I heard him say, “OK. Which chromosome?” so I knew the test had come back ‘abnormal’, it was just a question of which chromosome had the trisomy. He then said, “OK, so that’s Down’s Syndrome? Fine. Thank you for letting us know”. We spent the next few hours phoning everyone who needed to know and then putting the news on Facebook! We were determined to make sure everyone knew we didn’t want to hear the words “I’m sorry” and that we were also fine with the news. We knew God was in control of this little one’s life and health. This was the day our families were ‘hit’ with the news, in the sense I think most people thought everything would be ok, and got their shocks once it was confirmed. Colin and I both knew from the consultants that they thought their suspicions were right. We actually asked the consultant on the following Monday when we met with him if he knew, and he said he was fairly certain baby had Down’s from his initial scan. On the Friday, I got a surprise visit from my dog Bailey who was staying with friends, and Colin and I went for a lovely walk in the park and prayed over our little baby and chatted about the future.
A year on - a reflection from May 2013
When I look back on everything that happened a year ago, I am still so surprised by the amazing sense of peace and calm I felt. I am grateful that I was sheltered from the worry in the build up to the consultant scan, and that we didn’t have to wait long to find out what was happening. Obviously this changed the course of the pregnancy; I was now ‘high risk’ and scanned almost weekly between the start of May and start of September. I ended up admitted to hospital at the end of August with complications, probably arising from Daniel having Down Syndrome.
However, despite all that, I wish I could tell myself back on 1 May last year a couple of things. One, a lot of people will focus on the negatives in life. These people suck your energy and leave you deflated. You don’t need these people around. They will make it difficult for you to trust God to be in control or to enjoy the good moments. I have learnt that I can choose to only spend my time and energy where I feel recharged and energised. Two, Daniel will change your life. Not in the negative sense people mean when you’re pregnant (you’ll never have a lie-in again, babies take up all your time and money, your body will be wrecked) but that Daniel will make you realise that life is a miracle, that everything we learn to do as a baby is an amazing achievement, he will show you that perserverance and the right attitude get you far in life, and that expectations people (particularly healthcare professionals) may have about him don’t have to be what happens!
As a teenager at school, many of my friends chose to do community service instead of sport on Wednesday afternoons. They headed off to special schools to help disabled children while I played netball (or did ‘cross country running’ – which I think involved a lot of time spent on the rugby First XV’s sidelines....) I remember thinking that I hoped I never had a child with special needs as I just didn’t know how people did it. How they could be so selfless to care for a child with additional needs. How other people could see their career spent working in this field. And here I am, about 13 years later, with Daniel playing with his feet on the sofa beside me following an intensive session with his physiotherapist. He has changed my views on disability and I hope has made me a better person. I’ve realised that God has shown me that He gives us the strength to face the things we think we couldn’t do. I know others say this strength comes from within, but for me, it is definitely God given.