The SWAN children: Meet some of the 6,000 British children who suffer from Syndrome Without A Name that no doctor can diagnose

Alice Smellie


22:32 GMT, 24 March 2012



00:09 GMT, 25 March 2012

At six weeks old, Meg Devereux-Roberts smiled. But since then, she has not met a single developmental milestone on time. She has never spoken, couldn’t sit up until she was two, or crawl until she was three. Now 14, Meg is blind, suffers from epileptic seizures and cannot walk. She requires round-the-clock care from her parents, Deborah and Ian.

But perhaps worst of all, no one knows what is wrong with her or why these things have happened. The only certainty is that she will never get better.

Meg is one of about 6,000 disabled British children born every year who have no diagnosis for their condition – they make up around 40 per cent of all disabled children. They are often referred to as SWAN children – suffering from Syndrome Without A Name.

Uncertain future: SWAN child Meg with her sister Ellie and mother Deborah

Uncertain future: SWAN child Meg with her sister Ellie and mother Deborah

Often symptoms are similar. Babies have problems with feeding and gaining weight. They may have significant learning difficulties, facial features such as low-set ears, heart conditions, vision problems and epilepsy. Many, like Meg, cannot walk, talk, or eat without assistance.

Problems vary enormously from child to child, and SWAN is not an illness in its own right. Experts believe these conditions are genetic. But each case is thought to be the only one of its kind, which makes a proper diagnosis – and prognosis – incredibly difficult.

Each parent will have been given the same utterly frustrating news by doctors: there is no way of knowing what the future may hold for their child. Treatment is a matter of fire-fighting, tackling problems as they arise. It is impossible to pre-empt difficulties because there are no previous cases to reference.

‘When Meg was born, I was all packed up and ready to leave hospital when they told me she had cataracts and might be visually impaired for life,’ says Deborah, 48. ‘The cataracts were operated on successfully and we went home thinking she’d grow up like any other little girl. But by the time she was eight months, I knew there was more wrong.

‘She wasn’t able to sit up and she wasn’t responding to stimuli in the same way our elder daughter Ellie had done. Eye specialists kept saying that it was because of vision problems, yet I knew there was more to it.’

Meg was eventually sent for MRI scans and saw specialist paediatricians. ‘No one knew what was wrong – she clearly had problems with muscle development as she was very floppy, and aged two-and-a-half she suffered her first serious epileptic attack,’ adds Deborah.

‘At hospital they thought it was febrile convulsions [usually harmless seizures in children, commonly caused by an infection]. But she continued to have fits, and aged three she was diagnosed with epilepsy, for which she has been on medication ever since. She now has fits almost daily.’

Until three years ago, Meg was able to crawl but she then suffered two dislocated knees – the human body isn’t designed to crawl after infancy. ‘It’s possible that there is also something wrong with her bones,’ says Deborah.

Meg's brother Harry with her father Ian

Meg's brother Harry with her father Ian

When Meg was nearly two, the couple took advice over having another child. ‘We were conscious of Ellie, who has no health problems, growing up with a disabled sibling.

If she had another brother or sister, it would give her more normality. We talked to a genetic counsellor and were told there was a chance of another baby having cataracts, but that the other conditions were just unfortunate.’

Things didn’t turn out as they had hoped. Their son, Harry, now 12, had cataracts when he was born. But as the months passed, it became apparent that he also had everything Meg was suffering from – but worse.

They are also concerned for Ellie, 17, who is about to go to university. Genetic tests not available at the time have suggested that Deborah and Ian, 47, have a recessive gene that has caused the condition. Any child of theirs has a one in four chance of having it.

‘There is a chance that Ellie has the recessive gene. It’s unlikely, but if she married someone with the same gene, her children would be at risk,’ says Deborah, who lives on the Wirral.

Despite this, Ellie can’t yet be tested, as they have no idea which gene is faulty so doctors don’t know what to look for.

‘Every single cell in your body contains a unique set of codes made up of DNA called the genome,’ explains Dr Matthew Hurles, a geneticist at the Wellcome Sanger Institute

in Cambridge. ‘This code contains a set of instructions about how to make every cell in the body and how they should work. Half of our DNA comes from our mother, half from our father. When the two are combined there are sometimes errors.

‘In most instances, this causes no problems but rarely it can cause medical conditions. With illnesses such as cystic fibrosis and muscular dystrophy, we know which genes are to blame. But in the case of SWAN children, we just don’t know which are responsible.’

While the search for a definitive diagnosis may sound irrelevant as the children clearly have disabilities, the lack of a medical label makes their situations more difficult. Not only are the families looking after children with extreme needs, they are also dealing with complicated bureaucracy to get help. ‘Having a clear diagnosis assists patients to get access to help,’ explains Lizzie Chambers, deputy director of the charity Together For Short Lives.

‘Ideally there would be a key worker for each family who assessed all their needs. In reality everything is disjointed. Families have to repeat their stories over again to different doctors. They need health, education and social care – which are represented by different departments of social services – as well as medical care.’

It’s a situation familiar to Hayley Pelham, whose 22-month-old son Freddie is a SWAN child. ‘Freddie has 18 different doctors,’ she says. ‘When he was born we knew something wasn’t right. He had the small chin and low-set ears that are indicative of many problems. At eight weeks he stopped feeding.

Seeking support: Sasha McDowell and her 14-month-old son eiden, who is a SWAN child

Seeking support: Sasha McDowell and her 14-month-old son eiden, who is a SWAN child

‘Since then Freddie has had eye problems, a heart defect, eczema, epilepsy and problems with the development of his skull. He has a thumb that he can’t move and clenched toes. If we had a clear diagnosis, we could read up about it and get support.’

Until a few months ago, Hayley and her fiance, Andy Gwilliams, 23, a manager at the Wirral Autistic Society, were optimistic Freddie might catch up with other children.

However, it is now clear that will never be the case. ‘We contacted social services for an assessment, but both we and our paediatrician have had to chase them up,’ says Hayley.

‘We are utterly isolated and living a day-to-day life of uncertainty. We don’t know whether he’ll walk or talk or whether he has a shortened life expectancy.’

The lack of diagnosis has exposed them to incredible insensitivity. ‘I saw a doctor – not our GP – the other day and she asked what was wrong with him. When I said he was undiagnosed, she said airily, “Oh, at least it’s not serious.” ’

Members of the group SWAN UK, established last year to support families, are not surprised by this comment. ‘Without a recognisable diagnosis, families can sometimes struggle to have their child’s difficulties taken seriously,’ says spokeswoman Lauren Roberts. ‘Perhaps their GP won’t refer them to the relevant specialist service within the NHS.

‘A number of families have told us how people often assume that because their child doesn’t have a diagnosis, they will grow out of it or catch up.’

Despite all this, experts are cautiously optimistic about what the future holds for these children. ‘By the time children come to us, medics will have eliminated obvious causes and conditions,’ says Jane Hurst, Consultant Geneticist at Great Ormond Street Hospital, who sees about ten SWAN children a week.

‘Until recently we went on physical features and family history when we suspected conditions were caused by genetic changes. Now, targeted genetic testing is being developed.’

This is one of the technologies explored by the Deciphering Developmental Disorders Initiative, co-led by Dr Hurles. This project tries to understand the nature of these disorders and is looking to collect information from 12,000 children with developmental disorders. Dr Hurles says: ‘This is fundamental for prognosis, diagnostic tools and developing therapies.’

However, obtaining a diagnosis doesn’t mean the child can be cured. ‘Learning disabilities and other brain conditions are difficult to treat,’ Dr Hurst adds.

In the meantime, parents face a seemingly endless round of medical appointments.

Sasha McDowell, whose SWAN son Eiden is now 14 months old, says: ‘He has been admitted to hospital every month of his life.’

Eiden is tube-fed 20 hours a day and needs constant monitoring. He was born with a cleft palate and has breathing problems. Last week he developed pneumonia. Sasha, 35, who works for the NHS, adds: ‘He is seen by a different consultant or registrar for every problem, but no one is co-ordinating his care – we do it.’

Yet she and Eiden’s father, Simon, 37, who also works for the NHS, adore their son. ‘My love for Eiden has given me a strength I didn’t know I had,’ Sasha adds.

These families aren’t asking for pity – they just want answers and for help to be more easily available. ‘The children are easy – it’s getting support that is difficult,’ says Deborah Devereux-Roberts.

Hayley Pelham agrees. ‘We get so much joy from Freddie. Even seeing his smile when I get him up in the morning, my heart skips a beat. When Evie [her healthy elder daughter] walked, I was happy for a day. If Freddie ever walks, I’ll be happy for life.’