A World Without Down’s Syndrome? No Thank You!

I waited to post this blog until today as I wanted to really think hard to assimilate my feelings on such an important issue. I watched the BBC’s documentary last night, A World Without Down’s Syndrome.  If you didn’t see it, I implore you to watch it. It was a powerful documentary that raised some very thought provoking issues, not only about perceptions of people with Down’s Syndrome, but also the wider implications of genetic testing.

There is a new screening test for Down’s Syndrome that is non-invasive and gives about a 99% accurate result. There has been a proposal that this should be available on the NHS. Currently, in the UK, approximately 90% of women who get a positive diagnosis during pregnancy terminate. Since introducing the new test in Iceland, there have been no babies born with Down’s Syndrome. I’ll leave you to make your own judgement on that.

There was a speech on the programme last night by Hayley Goleniowska to the medical community. It had everyone listening in tears. I was in tears. What she said resonated with me. We are conditioned to believe that a diagnosis of Down’s Syndrome is a negative thing. I can’t help but think that a whole extra chromosome should be an advantage really!!!

I didn’t know during either of my pregnancies that my babies had chromosome abnormalities. After we had Daisy, we had our own chromosomes tested because we wanted more children and we wanted to know if it was something we were passing on. Particularly as Daisy has retinoblastoma. Having to watch your child have chemotherapy at 3 weeks old is pretty bloody tough. We may not have tried for another baby if we thought this was what we were passing on. They confirmed that our chromosomes were normal (still hate that word) and, as Daisy is mosaic (meaning the deletion is not in all of her cells), something happened after conception for the deletion to occur. The geneticist assured us that because of this, it was very unlikely this would happen again. When I was pregnant with Huxley, or Baby Zads as he was known then, I did have the nuchal fold screening. Looking back I am not sure why as we both had agreed that any abnormalities wouldn’t affect our decision to continue with the pregnancy. I am guessing because it was non invasive and I didn’t really think about the implications of a positive result. Which makes me think that that people will go ahead with this new non-invasive test without really thinking about its implications.  Currently you have to think long and hard before going ahead with an amniocentesis.

Before we even had the results of the screening, the Dr offered us an amniocentesis because of Daisy’s condition. We told her no as we weren’t going to risk the life of the baby just to know whether it had Down’s Syndrome. I remember her saying, oh well you can always change your mind. Why would I change my mind? I think there is a lack of understanding by the medical profession about what life is like with a child with special needs. This is worrying as people are making decisions based on information from people without the experience of life with Down’s Syndrome.

A mum on the programme, Emma, chose not to have screening for her second child to protect her unborn child from the negative input from the medical professionals. Amazingly Emma is the sister-in-law of an old work friend! Small world! Thank you for adding me as a friend on Facebook Emma, I look forward to sharing tales of our awesome kids :o). It’s pretty horrifying that you have to protect yourself from the medical community, as they are the ones you rely on to care for you. They seem to see statistics and figures and symptoms and not the people behind them.

I don’t think people are given relevant and recent information about living with Down’s Syndrome. It is a syndrome and not a disease. I admit I was pretty ignorant about Down’s Syndrome before Huxley. I have since read a fair bit of information. I discovered that as recently as the early 1980s, people with Down’s Syndrome had a life expectancy of only 25. It is now about 60. Now this is not due to medical advances, merely including people with Down’s Syndrome in society. They are only going to go on to achieve even bigger and better things, but only if we as a society are prepared to accept them as equals.

One of the arguments for terminating is that the child will have learning disabilities and possibly health conditions. This could happen to a child without a Down’s Syndrome diagnosis. There are no guarantees when you have a child. Daisy’s disabilities are far more severe than Huxley’s and there is no prenatal test for that. So you might be hedging your bets against Down’s but you have no assurance that you are not carrying a child with a much more severe disability.

I am glad I didn’t know about either Daisy or Huxley’s condition before they were born. I would have Googled the life out of them and worried myself senseless about all the things that could happen. As it is, we deal with the here and now and focus our energy on the practical things we can do to help our children. Why worry about something that might never happen? I think that peoples’ perception of what it is like to be the parent of a child with special needs is very different from the reality. I don’t look at my children and see their disabilities. I look at my children in exactly the same way you look at your children, with love bursting from me.

We were delivered the news about Huxley over 28 hours after he was born. So we spent 28 hours believing he was a healthy baby boy and we didn’t need to be too worried about his chromosomes (he was having them tested just to be sure he didn’t have the same deletion as Daisy because if he did, they would need to screen for retinoblastoma to catch it early). The Drs came round and said did we know about chromosome testing. I said yes as we had asked for the testing because of Daisy. They said not for chromosome 13 deletion, but for Down’s Syndrome. We were shocked. This was the first we had heard Down’s Syndrome mentioned. I later discovered they suspected Huxley had Down’s Syndrome just after he was born. We had had a student nurse with us during delivery. She was lovely. We had been telling her about Daisy and our hope that this baby would not have the same condition. It wasn’t that it would be a problem to have another child with special needs, but we hoped a second child would help bring Daisy on with her development. This student nurse came to see me 2 days after delivery. She told me she had gone home in tears after Huxley was born as she was so upset for us that we had had a baby with Down’s Syndrome after we had already been through so much with Daisy. Again, showing we are all conditioned to think a baby with Down’s Syndrome is a negative thing. I feel for that nurse as that must have been hard. I would love to see her again now and reassure her how fabulous life is with our little man. I wish they had told us as soon as they had their suspicions, but I am sure they had their reasons.

We should be embracing differences. Everything I have read has talked about the positive impact people with Down’s Syndrome have on the people around them. I am certainly a far better person for having had Daisy and Huxley. They have challenged my values and made me see that what the most important achievements in life are that you are kind and that you are happy.

I see a marked improvement since I was at school in how accepting children are of people with differences. This is because of inclusion. Life is not only better for Daisy and Huxley because of strides taken to include them, but I truly feel that the lives of everyone around them have become richer too. Daisy attends a local nursery. She loves it. I have been so impressed with the nursery and their efforts to involve her in everything. It has really brought on her development. I watch the other children with her and they seem to sense there is something a bit different about Daisy and they go out of their way to play with her and help her. It melts my heart to see her join in with them. I look forward to Huxley experiencing the same when he starts there.

Adults could learn a lot from children when it comes to dealing with differences. Where an adult will look at me tube feeding Daisy and ask what is wrong with her, a child will ask what I am doing and why and will be very accepting of the explanation. It is this subtle change in the way the question is asked that impresses me. I don’t see anything ‘wrong’ with Daisy. I am sure I would have been guilty of asking a question like that before I had her. We need to educate people about how best to deal with differences.

But back to screening. While I think I believe in choice, are we really making those choices for the right reasons? There might be good medical reasons for terminating a pregnancy, but I don’t think that Down’s Syndrome is one of them. I think women with a positive Down’s Syndrome diagnosis should be put in touch with mums of children with Down’s Syndrome to get a fair understanding of the reality of what life will be like before making a decision.

A World Without My Huxley? No thank you.