Supporting parents of children with Down’s syndrome

Key learning points

• Down’s has certain visible characteristics, but not every baby will have them.
• Try to determine the familiy’s needs, as perceived by them.
• If there are problems with feeding, suggest a mixed method of expressed breast milk via a bottle.

What is Down’s syndrome?

Down’s is a genetic condition that occurs as a result of an extra copy of chromosome 21 – and is often referred to as trisomy 21.

For most families, the diagnosis will have been given prenatally, either through blood markers or a nuchal fold scan. It is important to remember that Down’s is not a life-limiting condition nor a condition that is not compatible with life postnatally. Families deserve honest information to make their plans.

One mother told me: ‘We read every horror story out there, looked at every horrible picture, which I now realise came mostly from the 1960s. I created in my head this picture of what my beautiful baby would look like, with a pudding-basin haircut,
a sticky-out tongue, bottle-bottom glasses and an extra-large tracksuit to cover the adult-size nappy.’

Many textbooks and websites refer to the child as a series of clinical signs and symptoms; it is your role as the family’s first point of postnatal contact to help them reshape some of those ideas
(see table, page 8). 

For example, Down’s syndrome has certain visible physical characteristics, but not every baby born with Down’s will have them:

• Hypotonia.
• Small nose and flat nasal bridge.
• Small mouth with an enlarged tongue.
• Brushfield spots and an epicanthic fold.
• A flat back of the head.
• Broad hands with short fingers and a single prominent crease.

But it is important to remember that not all babies with Down’s syndrome look alike; in fact more babies look more like their families than other babies with Down’s. This is why initiatives like the ‘Looking Up Book’ from the Cornwall Down’s Syndrome Support Group are so important (see further information). 

Whether this is a first baby, a third baby or a baby brought into the family through adoption, all parents are waiting for you as a professional to say two essential things to them:

• Congratulations on the arrival of your baby.
• I’m here to work with your family.

Unfortunately the experiences of many families are different, and these two phrases are absent. As professionals we often compound the feelings of isolation by creating, in our professional imagery, the concept of the ‘disabled family’ without intending to.

To redress that, consider the 1980 Aims of Nursing¹ to explore the establishing of an effective parent partnership. It provides a reflective template built loosely around the Driscoll What Formula² to aid your learning and understanding (see below). Your first contact with that family will determine their engagement with healthcare professionals for a number of years. It is therefore important to get it right.

While the birth of a child with Down’s syndrome may initially be viewed as a tragedy, this interpretation usually changes dramatically over time. For example, one mother said: ‘All of us have learned to look beyond face value. Before our son was born, there were no disabilities in our very large family. I think it shook our perfect world at first, but three years on our world has broadened. We have all watched something wonderful grow out of what was initially felt as a tragedy.’³ 

Ashworth provides a useful template for starting off on a positive footing: ‘To establish a relationship in which the family perceives the health visitor as friendly, helpful, competent and reliable and as recognising the baby’s worth and individuality.’¹

Remember, a family may have been waiting for that appointment all week with questions that deserve an answer. It’s usually with the mother, and she will then be considered by the rest of the family as the ‘family expert’ on the diagnosis. She wants to know as much as possible to report back to those at home, such as her partner or parents. 

Parents talk extensively about questions that have gone unanswered and how they were labelled as a ‘disabled family’ at this first point of contact.

As an added complication, families have often googled their questions before they see you and, with the best will in the world, have not always been able to distinguish the facts from the myths and mysteries, matching their expectations and aspirations with what they see first.

A mother told me: ‘When our baby was born, the Down’s syndrome was a shock because I was only 31 and I thought it only happened to old mothers; no one quite knew what to say to us. The leaflets the hospital had were dire so we turned to the iPad. I kept thinking the health visitor would have more of an idea than the midwives, but when she arrived she told me we were her “first Down’s family”. We never bothered with her much after then.’

The Ashworth template¹ continues to be relevant when considering the information you provide for that family:

• To try to determine the family’s needs, as perceived by them, and when necessary to help them to recognise their other needs.
• To provide factual information on which the family can structure their expectations.

A mother told me: ‘For us, breastfeeding was a huge issue; everyone kept telling us breast was best, and I felt such a failure as Dotty just couldn’t do it at the start. All the hospital said was to give up and go straight for the bottle, but I didn’t want to.’

Because of low muscle tone and an enlarged tongue, breastfeeding can be more of a challenge for babies with Down’s syndrome, but it is not insurmountable. Encouraging families to try
a mixed method of expressed breast via a bottle is often the most acceptable solution – lots of parents find that latex teats are the best option too, as they are softer. Babies with low muscle tone do best when they are supported by pillows so that their head and bottom are level. The baby might also need chin support to help keep them from tiring and losing their latch. It is also a reassurance for the parent whose baby has more than just a ‘snuffly nose’ to use a pillow to ensure the baby does not become overwhelmed with a breast.

Ashworth¹ asks us to assist the family to use their own resources and those offered to them (information, education) to meet their own needs. A mother told me: ‘We wanted to know as much as we could about Down’s syndrome at the start and the useless information we found – I could start a bonfire with it! But then some of the information we were offered by the professionals was just as useless.’ 

The unexpected diagnosis

The issue of the unexpected diagnosis and parents’ concerns has been discussed in research.³ Despite increased use of prenatal testing, many parents do not become aware of their child’s diagnosis until after the child’s birth. Most parents enter the birth experience expecting to have a healthy child, not one with health problems and developmental delays. One mother noted, ‘when
a child is conceived; a dream is born – of a healthy, strong, clever child who with confidence and success fulfills a parent’s desire to bear a child. When we received the news that she had Down’s syndrome, it was as if the child of our dreams had died.’

For many new parents, becoming aware of their child’s diagnosis is like entering a new world – of healthcare providers from a wide variety of disciplines, support groups and early intervention programs. It is a very different world than the one they imagined. Some report feeling the need to pin down or forecast the future. 

Your reactions, approach and signposting can mean the difference between a successful parent-professional partnership and a battleground. One parent told me: ‘I wish health visitors realised that it’s a privilege rather than a burden when discussing this news with new parents. Health visitors are in a gifted position of having the opportunity to inject warmth and personal interaction with the newborn at a tough time, when families are in very raw state and often feel that their baby belongs to the healthcare system. There are several things a health visitor can discuss with a new parent ahead of the nitty gritty – “Oh doesn’t she look like you!” “What fabulous hair/adorable hands”; perhaps they could take the baby in their arms and hold them if appropriate but definitely they should aim for an act of personal interaction with the baby before anyone counts chromosomes.’

The way you support these parents in their journey to become a family will influence not only perinatal mental health but also family wellness. Never underestimate the power of your interactions.

The author would like to thank Angie Emrys-Jones, Nicola Enoch, Amanda Glennon, Hayley Goleniowska and Sarah Smith – all mothers of children with Down’s syndrome – for their help in writing this article

References 

1 Ashworth P. Care to Communicate. RCN London, 1980.

2 Driscoll J. Reflective practice for practice. Senior Nurse 1994;13:47-50. 

3 Van Riper M, Choi H. Family-provider interactions surrounding the diagnosis of Down syndrome. Genetics in Medicine 2011;13:714-16.

Further information for professionals and families: