Down's syndrome: Breaking the news
There's no easy way to hear that your baby has Down's syndrome. But there's a lot doctors could learn about breaking the news.
Tuesday 30 May 2006
David Betts and his wife Cheryl didn't even have time sit down in the paediatrician's office before he had told them: "Your daughter has Down's syndrome." As they stood in shock, they waited for a word of sympathy, some information about the condition or a more detailed prognosis.
None came. "We left his office and went to sit outside, thinking someone would come along soon and tell us something," David recalls. "But no one talked to us, so we got up and left. We were totally devastated and didn't know what to do, so we went home and decided to read up on it."
Worse was to come when the couple, from Lowestoft, Suffolk, took their baby to a paediatrician at the local hospital. "She had very Victorian attitudes and just kept referring to my daughter as a mongol," David says. "She said, 'Well, she'll never be a brain surgeon or a ballerina,' and seemed to imply that she would be better off in an institution."
Nine years on, and Aymee Betts is a happy, healthy girl who swims for the local club, goes to a mainstream school and enjoys gymnastics, trampolining and drama classes. "She is fantastic," says her proud father. "She's invited to all the children's parties and she reads like a speed reader." But he has never forgotten how he and his wife were treated by medical professionals.
Sadly, their experience is not unique. A report by the Down's Syndrome Association (DSA), due to be published next week, shows that many doctors still get it wrong in communicating with parents.
Two-thirds of Down's cases are now picked up by pre-natal testing, so parents are informed at about the 20-week stage. The DSA survey found that two-thirds of parents were given their test results over the phone; many were on their own, some were at work. Less than half were given any written information about Down's, and only half were told about local support groups.
This may explain why 92 per cent of parents opt for a termination when told their unborn child has Down's. The report highlights the case of Lisa Green, advised to have an abortion at 35 weeks after tests showed her baby had Down's. She refused, and her son is a happy, healthy toddler despite having the condition.
Because of the risk of miscarriage associated with the amniocentesis procedure, some parents opt not to have the test and only make the discovery at birth. They too encounter a lack of care and counselling. While the DSA survey found that more health professionals are getting it right, 37 per cent of couples were given no written information at diagnosis. Four out of 10 said they were given no practical support, such as details of local groups.
The DSA report makes several recommendations, including asking parents how they want to be told the results of tests and ensuring that every maternity unit has a local volunteer who has a child with Down's syndrome who can be contacted.
Marie Benton of the association says: "Things have got a lot better in recent years and some cases are really good examples of best practice, but parents are still not being given all the information they need.
"The way in which parents are told can make all the difference to the decisions they make pre-natally and how they cope with a diagnosis after birth."
Patrick O'Brien, consultant obstetrician at University College Hospital in London, agrees. But he says the range of problems experienced by children born with Down's can make it difficult to make a balanced explanation to parents who are already in shock. "It can go from children who have very mild problems to those with severe mental and physical problems," he said. "Pre-natal scans can give an idea of the physical defects but we can never tell how badly a child is going to be affected mentally. You can tell parents 10 positive things, but the one negative thing is, understandably, the one that sticks in their heads.
"I do think most hospitals now have very good counselling and information for parents, and junior doctors now get a lot more training in this area than they used to."
He said many parents are given the results of pre-natal tests over the phone simply because they are desperate to know the outcome as soon as possible. "It can be even worse for them if we say we have the results, then they have to drive to the hospital, wait and come in to hear them. Even if they are told over the phone, we now make sure a follow-up appointment is arranged as soon as possible to discuss in great detail what the diagnosis means."
Benton says that one problem with the way in which parents are dealt with post-natally is that fewer children are born with the syndrome now. "Many maternity units may see only one or two cases a year, so they are unsure how to cope with the parents. Sometimes staff actually go in the opposite direction from negativity and tell parents that they have been 'blessed'. It may be from the best of intentions, but that doesn't help either. Training can help, but what we have found is that a lot of parents just want to talk to someone else in the same position."
David Betts agrees. "The only experience I had of Down's syndrome before Aymee was born was my cousin, who had the condition very severely," he says. "She ended up in an institution. When we got such negativity from the doctors over Aymee I began to feel very down, but then I talked to other parents and we began to see things didn't have to be so bad."
Aymee's future still concerns him. "I want her to be able to live in the community, but supported," he says. "The problem is that councils just don't have the resources or the capacity to do that any more. We need to make sure the provision is there."
What does the future hold in terms of Down's research? As the chromosomal defect occurs at conception, there will probably never be a cure. But detection procedures are improving; the hope is that a simple blood test on a mother early in pregnancy will give a "yes or no" answer.
That would not change things for David Betts, though. "We tried for eight years to have a baby, so when Cheryl became pregnant with Aymee we discussed the tests but agreed it wouldn't matter whether she had Down's, she would still be our child. We look at her now and she's such a wonderful little girl; we wouldn't change that decision."
Down's syndrome: the facts
* About one in 1,000 babies born in the UK will have Down syndrome
* One or two babies are born with the condition every day in Britain
* It is caused by the presence of an extra chromosome in the embryo's cells
* The condition occurs at conception, and is irreversible and incurable
* In total, there are about 60,000 people in the UK with Down's
* The syndrome was named after the English doctor John Langdon Down, who first described the condition in 1866
* Life expectancy of people with Down's is now 50 years. However, the condition is associated with a much greater risk of heart defects, childhood leukaemia and early dementia
* While older women have a higher risk of having a baby with the condition, four out of five mothers of a Down's child are aged under 35
* Around two-thirds of Down's cases are now diagnosed before the child is born, through the use of pre-natal testing
* More than 90 per cent of women who are told that their unborn child has Down syndrome decide to have a termination
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