Tell It Right. Down Syndrome

Earlier this year I fell pregnant with my second baby. Conception, pregnancy and childbirth weren’t the easiest process for us the first time round. It started with fertility testing, followed by constantly being told we would loose our baby during pregnancy, coming extremely close to loosing him in child birth, a car accident trapping him in the car when he was six months old and numerous admissions with internal bleeding in the year after left me feeling… well broken. Two years later I finally felt brave enough to try again, knowing that it could be the same but praying it would be better.

At our twelve week scan I opted for the combined screening without really considering that it could come back showing an increased chance of Down’s Syndrome, Edwards and Patu’s. I had never even heard of Edwards or Patau’s and ignorantly didn’t even know they were testing for them as well as down syndrome. So when I received the call to tell me my screen had come back saying I had a higher chance of having a baby one of the syndromes  I think the first emotion was shock followed by confusion followed by sadness. Knowing very little about what my results meant I went to Google (Mans best friend and worst enemy!) The NHS says that “Sadly, most babies with Edwards' or Patau's syndromes will die before or shortly after birth.” my heart broke a million times, and I looked into our options for further testing.

I was offered two choices by the hospital, the first was a test that involved a needle being inserted into my stomach to take a sample of the fluid that surrounds the baby in the womb. . The test carried a one percent chance of miscarriage and is offered on the NHS. The other test not currently offered on the NHS involved a blood test with no risk to the baby. The lab then separates the chromosomes from the blood and counts them. The process takes an excruciating ten days to receive the results but with no risk to the baby and a credit card we could pay for it with this is the option we chose. The hospital were unable to recommend anywhere that could perform the test, but after a few phone calls back and forth they suggested speaking to a lab they knew of that I could phone for some advice. The lab were incredible, based in london they explained everything to me so clearly I felt I understood much better.

I think the hardest thing about the whole process was feeling as though we were going to loose our baby if it had any three of the syndromes. My logic at the time was that within those ten days I could do nothing about Edwards or Patu’s, unfortunately if my baby had these syndromes then everything was out of my hands. However it felt as though I was being given an option with Down Syndrome, a decision I had no idea how to begin to make as I had no idea what a life with Down syndrome looked like. At 28 years old I naively thought that I was exempt from having a baby with the syndrome so it had never crossed my mind to look into it before. When looking for information about life with a child with down syndrome I was surrounded by negativity. The nurses at the hospital were kind but all spoke in a tone that made me feel as though terminating the pregnancy was the best option. I was told that 90 percent of women who take the test opt for a termination and with so little information out there and the negativity I had read online sadly this isn’t a figure that surprises me.

It was only when I watched a Ted talk video about a mother who found out her daughter had down syndrome when she was born did I suddenly feel able to breathe. She described the exact embarrassing questions I found myself asking: What would my child be capable of? Would I need to give up work? How much are our lives going to change? She went on to say that the thing that scared her the most is how different her life could have been if has her combined screening come back positive. She said she didn’t know what her choice would have been and that terrified her because life with her daughter is so incredible. This video gave me hope, I felt able to breathe again and felt as though I had options.

My DNA blood test came back negative and I felt for a long time that I didn’t have the right to talk about my experience because of that. It was only when I was approached by a customer wanting to promote an event they were hosting to raise money for a down syndrome charity that I felt confident enough to find out more. She put me in touch with an amazing woman who talked me through her experience and told me about a charity that have a campaign called “Tell it right” all about the combined screening process and how they offer support to midwives in telling women their results. But before I talk to you more about their work I want to share with you her story:

We think your baby may have Downs Syndrome’. The words that I thought would change my world forever. And I suppose they did, just not in the way I expected. Maggie was born at full term after a very healthy and happy pregnancy. Two ‘normal’ scans and nothing of note on the usual screening tests offered by the nhs. Maggie, like most of the babies born with Downs Syndrome had slipped through the net.

When we were told that Maggie had Downs Syndrome we had a lot of anxieties about what lay ahead. I had a particular expectation of motherhood and found myself facing something quite different, or so I thought. I of course read up lots, mainly on the internet, finding articles and descriptions of what it meant to have Downs Syndrome. At first, before looking in the right places, all I could find were long lists of health conditions and physical problems, most of which, Maggie didn’t have. It was negative and frightening and made me want to weep. 

Eventually, after I had waded through the outdated articles full of medical labels, I found a wonderful world of mothers just like me, who were sharing information, reaching out for support and celebrating the achievements of their children. It didn’t take me long to realise that the motherhood I was experiencing was pretty much what I had expected, just with a few added extras. Some of these extras were even better.

It has taken me a while to get used to not obsessing about Maggies abilities and just appreciating the huge effort she puts into everything. Simply enjoying the moment I notice that today she can do something she couldn't do yesterday. The speed is really not important as long as the direction is always forwards.

Sometimes I feel the topic of Downs Syndrome is ‘big’ in the media and there are still things I read that make me want to weep. Opinions based on ignorance and written by people who are more concerned about what my daughter will cost the state than what she has to contribute to society. I know there is little I can do to change these opinions, other than to raise Maggie to be the best human she can possibly be. I am hoping Maggie has already inadvertently educated people about the positives of living in a society where not everyone is the same. Where compassion and tolerance cost very little and enrich our experiences. It is so easy to judge someone by their label and not by the person they actually are. 

I could sit here and tell you about all the things Maggie can do and what I am proud of, to try and convince people that my daughter is worth just as much as the next person. But the truth is, the best thing about Maggie is that she brings me, and everyone else who loves her so much joy. She is a massive personality, making friends wherever she goes. She is curious, confident and determined. Life with her is quite simply, wonderful. 

There are challenges, of course, but then I guess there aren’t many mums of a three year old who would say that life is easy! We don’t know what life will hold in store for Maggie, it’s hard to say. But, as we were taught by Maggie’s arrival, life is full of surprises and the best we can do is enjoy the journey....it’s been cracking so far.

Its wonderful that we can now offer different options for screening but without the support and information easily available I would rather have not been offered the test at all. From Gemma’s story you can see that the information isn’t always accurate even when it does come back negative. Which is why the work that the Down Syndrome Association are doing is so important. The tell it right campaign focuses on the following:

  • Screening for any condition during antenatal care is an “offer” and is not specifically recommended by the NHS.
    It is entirely up to a woman/couple to decide what (if any) test they may wish to access. Their decision should be respected and supported.

  • It is imperative that women are provided with up to date and accurate information about Down’s syndrome which should provide a balanced outlook of what life is like today, with families and individuals with Down’s syndrome contributing to shaping that information.

  • Health professionals (midwives, antenatal screening coordinators, obstetricians and sonographers) must have regular training in how to best support pregnant women.
    This must include accurate information about Down’s syndrome. Professionals also need to develop their skills in providing non-directive counselling – to enable women to make personalised, informed, decisions about what is right for them.

  • There is a need for a national care-pathway for women continuing their pregnancy knowing that their baby has Down’s syndrome (this doesn’t currently exist).
    We have put forward this recommendation to a recent NICE consultation on antenatal care and asked to be involved in developing this.

  • Ensuring the involvement of individuals with Down’s syndrome and the parents of children and adults with Down’s syndrome in the delivery of face-to-face training sessions for health professionals.
    (e.g. The DSA’s Royal College of Midwives accredited Tell It Right® training).

The Down’s Syndrome Association told me: “We have built a body of evidence which proves that a significant number of health professionals continue to provide information about Down’s syndrome in a biased manner. We have now trained over 5,000 midwives andrelated health professionalsacross the UK through our Tell It Right®training.Our key objective is to ensure that health professionals have up to date, accurate and balanced information about living with Down’s syndrome. This knowledge will assist them to support expectant parents through the screening process by sharing the information in a non-directive manner.”

If you’d like to find out more about the Down Syndrome Association or the Tell It Right campaign click here

A special thank you to Gemma for sharing hers and Maggies story with me and to the Down Syndrom Association for everything they do

ParentingHope Marshall