Commentary: Education vital as prenatal tests improve

Jeremy Balfour MSP on the advent of new ways of detecting abnormalities and how society must consider what to do with the results

Sunday 5th May 2019

The first that Conservative MSP Jeremy Balfour’s parents knew of his disability came when he was born in 1967 with an arm missing. He is the first to say that his parents “went through more with me than they did with my siblings”, but steadfastly believes that while raising a child with a disability can be more complicated, it doesn’t mean they can’t live a rich and fulfilling life, bringing their parents love and happiness in the same way as any child.

Now, with the advent of a new way to detect the genetic abnormality behind Down’s syndrome, Mr Balfour says there needs to be a wider discussion of how expectant mothers – and the NHS – are equipped to deal with getting the results of that test, and also increasingly accurate scans.

Caused by an extra chromosome, Down’s syndrome is a condition that around 700 babies are born with each year in the UK, causing some level of learning disability, which can vary from mild to severe.

While in the womb, an invasive test is required to confirm a definitive diagnosis of Down’s syndrome, but more accurate – and less risky – non-invasive screening tests are set to be introduced in Scotland this summer, following a decision from the UK national screening committee.

Where these tests have been introduced elsewhere in the world, the number of people born with Down’s syndrome has reduced markedly as more mothers who receive a positive test result choose to terminate their pregnancy.

Born before pre-natal scans would have likely detected his particular disability, Conservative MSP the convener of Holyrood’s cross-party group on disability, Jeremy Balfour, is keen to see an extensive education programme accompany the new tests.

Speaking to healthandcare.scot’s Sarah Nimmo, the Lothian representative makes the case for education so that society doesn’t lose the potential individuals born with a disability have to live fulfilling, meaningful lives.

“Anybody who goes for a scan either at 12 weeks or at 20 weeks and is suddenly confronted with a child that is going to be born with a disability, whether that’s Down’s syndrome or some other physical disability, it’s a massive shock and immediately lots of scenarios go through your head.

“I think what I want to see, and hopefully happens is that the mother, the partner, the wider family, are given as much information about the different options that are available if they choose to go ahead and have the baby.

Too often people think of the worst case scenarios – people think this child is never going to be able to achieve anything or about how will they cope and wondering whether there are any support mechanisms – those are genuine and proper good questions to have, but I also think we have to point out the answers

“…children who are born with Down’s syndrome can have very full lives, can achieve a lot, can bring a lot of happiness to individuals and can have a real contentment within themselves.

“That is true for all disabilities. Yes, there are going to be challenges that children born without a disability won’t face, but these challenges are not insurmountable and can be helped and dealt with when the right support is given to the family.”

Mr Balfour reflects on his own experience having been born in 1967, just before some screening tests were introduced for the first time:

It was a time where lots of individuals were born with lots of different disabilities for different reasons, and there was a special centre built here in Edinburgh, the Princess Margaret Rose orthopaedic hospital.

“There were lots of us around who either had upper or lower limb operations and fifty years on from that I happened to be asking staff how many people born more recently with a similar disability do they treat?

“The response came that in regard to children, there is now a very small number – under ten – that they have had in the last number of years coming in.

“The reason for that is two-fold; one is a positive reason where I think mums are living healthier lifestyles and I think that has definitely affected the number of children born with a disability.

“The second reason is that children who come up on a scan with a disability, too often I think, mothers think ‘we need to abort this child’. Now that clearly is a mother’s choice and whether or not they make that choice is not for me to comment on.

“But for me, I wonder whether mums are being given the whole picture; for example, yes having a child with a disability such as an upper limb missing doesn’t mean they can’t still go on to do lots of things. They can still go through education and lead a very fulfilling life.”

Wary of a ‘default position’ where not progressing with a pregnancy after a positive test for Down’s syndrome becomes the norm, Mr Balfour thinks sometimes “we have got ourselves into a default of ‘my child is disabled, I need to abort it.’ And I think there can be a pressure from society, a pressure from other family members, or a pressure even from those within the medical profession not to proceed.

As a society we have to say ultimately it is the mother’s choice, but the mother needs to be given as much information as possible to help with an understanding that yes, a disabled child will bring with it other issues, but it will also perhaps give you extra opportunities that you would not have expected.”

A woman and her disabled son whom Jeremy caught up with recently, having first met them not long after the son’s birth, seem to embody those unexpected “extra opportunities”.

“I met, nearly ten years ago when he had just been born, a little boy and for some reason scans carried out before he was born hadn’t picked up that he had an upper limb missing – a very similar disability to myself – and so the first thing the mother knew about it was when he was born.

“She was devastated, because there was a child that she wasn’t prepared for who was only born with one arm and sadly her partner couldn’t cope and left within a few weeks of the child being born.

“But I had an opportunity very early on to sit down with her and her parents and say look, here are the things I can do: I can go to work, I can feed myself, I can do lots of things with a similar disability to what your son has.

“I met her recently, nearly ten years on, and she was saying the happiness and love that she has had from her son is amazing…

“…yes, he has challenges he is going to face but things could have been very different if his disability had presented on the scan; had she been given all that information, and I think there are questions society needs to ask about the effects of having or not having that information.”

Much of the information about having a child with a disability is of course communicated through NHS staff.

As the range of conditions that can be scanned for extends and the accuracy of testing improves, they play an increasingly important role as society grapples with the new possibilities presented by knowing so much about a child before they are even born.

“The first person you are going to be having that type of conversation with is the midwife and your doctor after a scan, and they need to be educated and to understand and be able to say that there is support out there.

“For example, with my disability, technology has moved on remarkably in my lifetime; there is so much more equipment available to help you live your life as normally as possible.

“And there are other charities, third sector organisations, and NHS services out there which will radically help you live your life, and I think all that information needs to be given to the mother, who then needs time to think and not be rushed into a decision – I think that is really important.

“The key issue is that the mother can make an informed choice and that she has all the information she needs, and that ultimately comes down to education.

“The honest answer is, and I go back to my own disability here, there are very few individuals now born with an arm missing so there are not that many role models out there that doctors can point to and say here are some positive stories.

“I think the good news is that with Down’s syndrome, that is not the case – there are lots of people out there who can say here is my son, here is my daughter, my nephew or my niece, and this is their story, this is what they are living.

“Those are the stories that we need to tell in an honest way, acknowledging the challenges and being realistic about things, but that positive story of where your child could end up, I’m not sure it’s being told as clearly alongside other options.”