A world without Down’s Syndrome?

The field of fetal medicine has spent the last thirty years developing technology to identify Down’s syndrome pregnancies.  A new test, non invasive prenatal testing (NIPT), has just been made available in the UK on the NHS.  The test is performed at around 10 weeks of pregnancy and involves taking a small amount of the mothers blood so there is no risk to the fetus.  It can currently test for Down’s syndrome with 99% accuracy and in the near future will be able to test for other genetic ‘abnormalities’.

Sally Phillips, actress and comedian (she stars in the comedy Miranda and Bridget Jones’s Diary) has made a documentary currently showing on BBC iplayer called A World without Down’s Syndrome. Sally has a 12 year old son with Down’s syndrome and she has made the programme as she wants to make sure women are informed about what it is like to be the mother of a Down’s syndrome child. She is worried that the development of NIPT may lead to an increase in the number of Down’s syndrome pregnancies that are aborted. In the last ten years the number of women aborting Down’s pregnancies has gone up by 40%, so that nine out of ten UK women will abort. In the UK you can abort a Down’s pregnancy right up to birth as it is considered a severe disability.

If you read the list of symptoms, it can be very scary but not every child will be affected in the same way. Sally had screening tests but 12 years ago the tests were not as accurate and she was told that she had a low chance of a Down’s baby.  So it was a shock to her when her baby had Down’s syndrome.  Sally said ‘I was expecting tragedy but I got comedy”.”Having him in my life has changed my life and my families for the better.”  Through the programme she shows her very positive relationship with her son but in the media she has said that life has not been easy and she has had a full time nanny to help bring up her three boys.

There are now only 40,000 people with Downs syndrome in the UK.

It was not until 1970 that Down’s syndrome children were allowed in school in the UK and in 1981 they were allowed in main stream school. This has partly been achieved due to the pioneering work of Professor Sue Buckley who has been developing teaching methods for Down’s syndrome children. Down’s children are visual learners and with the right education 80% can learn to read and the majority can go through main stream education, get a job and live independently. Sue said “I do not feel that the diagnosis of Down’s syndrome should be a reason to terminate.”

In Iceland, 100% of Down’s syndrome pregnancies are aborted.  Sally interviewed Halldora Jonsdottir (pictured above with Sally) from Iceland who speaks two languages, has a job and is going to marry her long term boyfriend. She wrote an article about what it is like to have Down’s syndrome and has been working with Icelandic photographer Sigga Ella who has created a series of portraits of children and adults with Down’s syndrome to question whether a future without genetic diversity is desirable. Her exhibit is called First and foremost I am.

Sally also interviews Hayley Goleniowska who has a web site called Downs Side Up which is ‘gently changing the perception of Down’s syndrome from within hearts.’

Sally interviews Karen Gaffney who has done an amazing Ted talk, All life matters, on living with Down’s syndrome (as well as swimming the channel).

There is no doubt that bringing up a child with Down’s syndrome is challenging.  But most people in the documentary agreed that women should have the information about the positive and negative issues involved in bringing up a child with Down’s syndrome so they can make an informed choice.   And as technology advances, we will be able to find out more about our unborn fetus with a simple blood sample from the mother.  So it is key that we think about how we will discuss these difficult issues with pregnant women.

Read More:  

Global women – should all women be offered non invasive prenatal testing?

Image credit:  Photograph: BBC/Dragonfly via The Guardian.  Sally and Halldora