Winning the Genetic Lottery

21 March 2018  |  Tamsin Kingsley

I know I said this blog wouldn't be all about Izzy, but there's no denying that when she entered our lives ten months ago, our world was turned upside down. So many of you have been such an amazing help and support during this time, and I thought you might want to hear how our journey with both Izzy and Down Syndrome began. And what better day to tell you about it than on World Down Syndrome Day...

I didn't have Down Syndrome screening with either of my pregnancies. When I was pregnant with Lauren, we decided there was no point, since I would never abort my baby whatever was 'wrong' with her. We believe that from the moment of conception Izzy's life was her own, and it was our responsibility to nurture that life, just as we did when she was born. My view was that if she had Down Syndrome (which I knew was highly unlikely) we would deal with it when it happened, since surely a baby's needs are basically the same whether they are typical or not. Basically, I was very ignorant as to what Down Syndrome actually meant for a newborn baby, and the many different reasons for having screening (not just because you would abort). I unsurprisingly have thought a lot about screening since having Izzy, but have so many thoughts on it that I'll save that for another time.

A few times during my FIRST pregnancy I reminded Dan that Lauren may be born with Down Syndrome or another condition, but when she was born it didn't even cross my mind. She was perfect, healthy, and really quite an easy baby. At least she must have been easy because 10 months later we thought it was a good idea to make another one! This time I knew what I was doing (haha). I was confident I knew how it would all work and what would happen during pregnancy and newborn stage. I had seen friends sail through the '2 under 2' stage (or that's how it looked from the outside) and was confident that if they could do it, so could I.

I had a relatively straightforward second pregnancy, other than a period of being ginormous due to Polyhydramnios (excess fluid). I had some tests to rule out some possible reasons for this, but they concluded it was just 'one of those things'. 'A genetic problem' is listed on the NHS list of possible reasons for Polyhydramnios, but I naively dismissed this (Dan took it on board a bit more, which helped prepare him a little).

This time I didn't really consider something could be 'wrong' with my baby. I was anticipating a similar birth experience as with Lauren- long, painful but uncomplicated. Lauren was 14 days late, so even after my due date with Izzy I just tried to carry on with normal life (albeit impatiently). The morning of 19th May (two days overdue) I went to a first birthday party. In the afternoon I planted all my vegetable seedlings out in the garden. I picked Lauren up from nursery and we went home for dinner, bath and bed as normal. But by this time I had a feeling that the twinges I was feeling were getting worse, and very quickly I was in full on labour. At 10:30pm we rushed to hospital, and only just made it in time. She was almost born in the Maternity Assessment Centre but instead a quick decision was made to run (very literally) me in a wheelchair to a delivery room. I entered the room at 11:02pm. Izzy was born at 11:04pm. And she was perfect.

She was blue and floppy, and didn't give a proper cry, but they decided this was all due to the quick delivery. Dan had a big cuddle with her while I was otherwise occupied (ouch), and then I was keen to breastfeed. I said to Dan how great it would be if we could take her home in time for Lauren waking up in the morning. After a few minutes of feeding she came off and I asked the midwife for help to relatch her. The midwife took one look and immediately grabbed her from me and took her to one side, presumably giving her oxygen and other interventions. In my shocked and tired state I had missed her colour changing, something I still feel awful about now.

The doctor explained that she was struggling a bit and they thought it was best to take her round to neonatal to properly examine her and check everything was ok. 'Is that ok mum?' they asked. I wanted to scream that no, it wasn't ok, they needed to bring my baby back to me right now and let me give her the milk I knew she needed. Instead I just nodded. And they took my baby away, just a couple of hours old. Doctors came in and rummaged through my maternity notes, asking about problems in pregnancy and screening. I proudly told them I hadn't had any. Still, I didn't have A CLUE (Dan did).

After maybe an hour a female registrar came in and crouched down at my bedside. She explained that Izzy was struggling with her breathing and oxygen levels and that they thought this was probably because something was wrong with her heart. She then said that because of this, and because she had some 'flat' facial features (this was the phrase that at last awakened me to what was going on) they thought she may have a genetic disorder. 'Like Down Syndrome?' I asked and she assented.

I read about a lot of mothers who suffer with guilt for how they felt when they first found out their child's diagnosis. Sometimes the way in which the news is delivered may well play a part in the way it is received. I feel that the delivery of the news for us was sensitive and not overly negative, but strangely my first reaction was defensive and defiant. I knew I had to make sure the doctor didn't think I saw this as bad news, and I just nodded, trying not to show any reaction, as though she'd just told me Izzy's hair colour. I immediately felt like it was my job to make sure everyone involved in Izzy's care knew that she was loved and valued, and that I wouldn't let them define her by her diagnosis. I don't know why this was my first reaction. Perhaps it was influenced by my watching 'A world without Down Syndrome' during pregnancy, which made me quite angry and upset against the health professionals shown who didn't understand or value the lives of those with Down Syndrome. I guess I felt that everyone in the hospital would think that I should have aborted Izzy. I did find it upsetting in those first few hours to be asked by a few people why I hadn't had the screening, and then later when people assumed I was upset over her Down Syndrome rather than her needing breathing support, but overall staff were supportive, and my defensive reaction unjustified. I don't know what Dan's first reaction was as his face, like mine, remained impassive, but when I first asked him how he felt about an hour later, he just said 'excited' and I knew we were going to be ok.

Aged 27, my chances of having a baby with Down Syndrome were about 1 in 1,000. So pretty low. I still occasionally say to Dan now that I can't quite believe it happened to us. Up till now, my life has been pretty 'normal', and I generally assumed that if there was less than a 50% chance of something happening, it wouldn't. I suppose the people who play the lottery with far worse odds than 1 in 1,000 realise what I didn't; that one is still one very real person, and it could be you as much as anyone else. I guess I just wasn't expecting to win the genetic lottery!

We've had a few surprises in our family over the past few years, and I am slowly learning to expect the unexpected. To live each day with joy, not knowing what will happen tomorrow, whether good, bad or just totally unexpected. Izzy was certainly unexpected but we wouldn't change her for the world. She daily brings joy to Dan, Lauren and I (and others I'm sure) and her smile makes every day brighter (to be very clichéd).

Winning the Genetic Lottery

Psalm 139: 13-16

For you created my inmost being;
    you knit me together in my mother's womb.
I praise you because I am fearfully and wonderfully made;
    your works are wonderful,
    I know that full well.
My frame was not hidden from you
    when I was made in the secret place,
    when I was woven together in the depths of the earth.
Your eyes saw my unformed body;
    all the days ordained for me were written in your book
    before one of them came to be.

Tamsin Kingsley

Tamsin Kingsley

I am a 33 year old living in Leeds with my husband and two children. I am a full time mum and carer to Lauren, 7 years and typical, and Izzy, 5 years with Down's Syndrome. Izzy has complex health needs mostly due to her low muscle tone, and struggles with feeding and breathing, resulting in tons of appointments and hospital admissions. Both children are happy and full of life, and our family all love each other very much.

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