Heartache hides behind the smiles

While this may not appear to signal anything obviously wrong with the seven-year-old Glasgow schoolboy, his behaviour is dictated by an extremely rare genetic condition.

Andrew has Williams Syndrome, which cause children to develop a characteristically "elfin" face and highly sensitive hearing, and also leads to a range of health problems and learning difficulties.

But concerns over delayed diagnosis, which can have a severe impact on children's lives, has brought families and specialists together today in Scotland to plan improvements in how those with the condition are treated.

The event, in Stirling, will also launch new guidance for those treating patients with Williams syndrome, with the hope of giving them the best care possible.

The condition, caused by a chromosome abnormality, occurs at random in around one in 25,000 births.

Andrew, who lives in Newton Mearns, was diagnosed relatively early in life at around nine weeks. His father, Alan, said: "My wife had noticed his feeding was very poor. We had various visits to the doctor and they recommended we have things checked out properly at Yorkhill children's hospital."

Because Andrew had a hole in his heart, a cardiologist examined him and found other problems as well. He had an operation to find out what was wrong with his heart, which found that he had a condition known as pulmonary stenosis and also a problem with the aortic valve.

These symptoms can be found in people with Williams' syndrome, which led to further tests which confirmed the condition.

"That's when the bombshell landed," Alan said. "The heart difficulties which are ongoing will probably be one of Andrew's biggest challenges. He may eventually need surgery at some point."

The range of health problems and learning difficulties they experience varies widely between individuals. Alan, a 44-year-old accountant, said: "He is very small. Williams syndrome people tend to grow more slowly than other children."

He can also suffer anxiety in some situations, such as when he may be exposed to loud noises. But Andrew is able to go to mainstream school, where he gets extra help and support and is doing well.

An unusual quirk of Williams syndrome, and what can be seen as a more positive element of the condition, is that it can lead to a very sociable and friendly nature – a trait the family has seen in Andrew.

"He's very friendly and also highly emotional," Alan said.

"For example, on a daily basis he will tell me at least four times that he loves me.

"It's a very cute trait in many ways. Also if you go to the cinema to a kids' movie and there's a sad bit, Andrew will be inconsolable. It has its pluses but it also has its downsides."

Campaigners are hoping to raise the condition's profile in the UK at today's convention at Stirling University, with families and clinicians gathering to hear the latest developments.

It also marks the 30th anniversary of the Williams Syndrome Foundation, the organisers, which will hear the outcome of a major piece of work to improve the care of patients.

Kate Strong, from genetic research group Nowgen, based at the Manchester Biomedical Research Centre, said the project had involved gathering together all the research done on Williams Syndrome and extracting what works best in terms of treatment. The condition has no cure.

The findings had been used to come up with a guide to alert NHS staff to the best treatments for Williams patients. It will be made available to staff across the health service.

"It is about raising awareness among GPs and other people who, because the syndrome is so rare, may not have come across a child with it before," Strong said.

It would also help in the development of personal records for all Williams Syndrome patients.

"As well as containing information on their hospital visits and doctors appointments, it has got information aimed at other professionals, such as teachers or carers, explaining what Williams is, how people come to have it and what the effects can be," Strong said.

John Nelson, chief executive of the Williams Syndrome Foundation, said people with the condition had in the past lacked detailed information about the condition in their health records.

"We are putting that right because it is such a specific syndrome and so unique, not just in the way it shows itself but in the needs they have."

The documents should help people with Williams syndrome get the right care.

"There has always been a lack of awareness of Williams syndrome. There are only expected to be about 3,000 cases in the whole of the UK. Most doctors never see one. Often diagnosis is delayed because of lack of awareness and information."

The earlier the condition could be diagnosed, the better it was for patients and their families, Nelson added.

"At least if you have a diagnosis, you know what to expect and how to meet the challenges. We are still fighting a major battle on awareness."

Rare disorder is all in the genes

WILLIAMS syndrome is a rare neurodevelopmental disorder caused by a deletion of about 26 genes from the long arm of chromosome 7. It is characterised by a distinctive "elfin" facial appearance, along with a low nasal bridge, an unusually cheerful demeanour and ease with strangers, developmental delay and cardiovascular problems. The syndrome was first identified in 1961 by Dr JCP Williams from New Zealand.

Individuals with Williams syndrome are highly verbal and overly sociable (having what had previously been described as a "cocktail party" type personality), but lack common sense. Although rare, Williams Syndrome has been highlighted in a 2002 comedy called Fish Don't Blink, which includes a character whose acute hearing plays a central role in the plot. It has also featured in US TV series Law And Order, in which enhanced hearing plays a part in catching a criminal.