Changing the nation's perception of Down's syndrome

One son is raiding the fridge, tiny fingers extracting some beefburgers and setting about attempting to insert them in the cold oven. This is all played out against Claire's protests - after all, Ethan is just two-and-a-half years old.

His big brother, Elliot, is loudly going about his business too, working his way through a mountain of toys, messing around happily and noisily in the background.

Above the pandemonium, Claire presses on. She's trying to explain how, just over four years ago and still exhausted from the effort of delivering her first son, she was hit with the devastating thought that this kind of ordinary family life - however chaotic and debilitating, messy and noisy it gets - might never really come to pass.

"I had the blood test and it came back that I was low risk," she remembers. "I thought, 'right then, Down's syndrome, that's one less thing to worry about'.

"I thought I was completely safe."

She was just 25, an age when most young mothers-to-be might feel fairly confident that their chances of having a Down's syndrome baby were extremely low. Isn't that something that happens to older mums and not young, healthy 20-somethings?

Down's Syndrome Awareness Week, a drive to imprint in the nation's conscience just what this genetic condition is, who it affects and how, is now drawing to a close.

The message it has delivered turns many people's understanding of Down's syndrome as an "old mum's" problem upside down.

Indeed, two-thirds of Down's syndrome babies are born to women aged under 35, with 20 per cent of all Down's babies born to women who are 25 and under.

As it turned out, one of them was to arrive with, as it has turned out, far-reaching and remarkable consequences in young mum Claire's arms.

He arrived in November 2006, a seemingly healthy little chap, a bit small at just 4lb 5oz but bang on time and looking every bit perfect.

So perfect that it took hospital staff four days to conclude that there was a slight possibility that he might be a Down's syndrome baby.

"There was a bit of concern because he was small and he wasn't feeding very well and he couldn't keep his temperature up," recalls Claire. "He was cold. He was in a heated blanket yet he was still cold."

Today she knows that size, reluctance to feed and a certain sluggishness can all be linked to Down's syndrome. At the time, though, it was the furthest thing from her thoughts.

"I never for a minute thought there was anything wrong," she shrugs. "I didn't notice anything different about him, other than a bit of activity around him from the staff which I thought was just because he was small."

News that her baby boy had Down's syndrome - a genetic blip that's associated with distinctive facial features, heart trouble and learning difficulties - was a bolt from the blue.

"The consultant came across and said to me 'Do you notice anything unusual about that baby's features?' and I said 'No, nothing'.

"He replied, 'Well, it's usually the mums that notice first', and just walked away.

"My mind was racing. I couldn't figure out what was going on and it didn't click that Elliot might have Down's syndrome."

It was only later, with Elliot's dad, Raymond, by her side, that Claire was told a blood test had confirmed that, indeed, her child was one of the 750 Down's syndrome babies born every year in the UK.

"I was choked, stunned. I don't know how to describe it," she admits.

"It didn't sink in. All I could think about were things way off in the future - would he be able to drive? Would he go to mainstream school? Would he be bullied when he got there?

"All these negative thoughts. Nothing positive, only negative."

She trawled the internet for information and was further depressed by what she found. She unearthed scary websites that kicked off talking about Down's syndrome with the word "cancer" that frightened her even more for Elliot's future, while others illustrated with tired images of children from the 1980s looking terribly dated in their dungarees with tongues lolling out, page after page of warnings of learning difficulties, heart trouble, social stigma.

Eventually, she found a book that made her heart soar. Written by a woman with Down's syndrome, it told an inspiring and positive story of her route to university.

Enthused by what she'd read, Claire contacted Down's Syndrome Scotland and met one of the volunteers, a mum of an older boy, who went to school, could swim, had friends and a life that was as fulfilled and happy as any other little boy.

Her fears faded. Elliot had a small hole in his heart, he was a bit slower to develop than other babies and more susceptible to colds and infections, but he was still a delightful little boy.

By the time she was pregnant with Ethan, Claire was so comfortable with Down's syndrome that she didn't even care to have the test that might have indicated whether he, too, would be born like his brother.

"I thought to myself 'what will be, will be'. I think with Elliot, it was just meant to be and it would have been pointless for me to know that Ethan was going to be the same because it wouldn't have changed things, I'd still have had him."

Down's Syndrome Scotland chief executive Pandora Summerfield says it's vital to see children and adults like Elliot as individuals. "People with Down's syndrome are all part of someone's family, friendship group and community," she says. "We believe very strongly in inclusion for all."

Certainly at Livingston's Toronto Primary School's nursery class, Elliot is just another young pupil preparing for primary one in August.

He might not be able to say much yet - his first words were to suddenly sigh "oh dear" which left Claire confused and wondering if she'd heard things - yet he communicates easily using sign language.

In fact, his young classmates have been learning it, too, broadening their own communication skills.

From those early days when Claire feared for the future, today her thoughts are overwhelmingly positive.

Curiously, it's largely thanks to Elliot's condition.

She now plays a key role in helping other families of Down's syndrome children, as chair of the Edinburgh branch of Down's Syndrome Scotland and running a parent and toddler group supporting young mums.

When her relationship with Elliot and Ethan's dad, Raymond, fizzled out - "just one of those things," she stresses - it was Elliot's condition that opened the door to a new partnership that will be sealed with her marriage to ex-soldier Davyd Williams, 37, later this year.

"We met at a Down's syndrome charity event which, I suppose, is quite an unusual way to meet your future husband really," she says with a grin.

"We clicked. He has a sister who has Down's syndrome, Lynnsey, who's 29, so he knew exactly what to expect with Elliot.

"It's been great for me to get to know Lynnsey, too. I take her on girly shopping trips and it's been nice to see how Down's is for an older person."

Thrown together by a genetic blip that touched both their lives, soon Claire, 29, and Davyd will say their vows, with Elliot and little brother Ethan as their wedding day page boys.

"It's going to be a busy year for Elliot. He'll start school later this year and it'll be interesting to see how he gets on," says Claire.

"Everyone's very excited about the wedding, too.

"It's quite weird, really, how things turn out."

For information on Down's Syndrome Scotland, go to www.dsscotland.org.uk or call 0131-313 4225. Claire runs a parent and toddler group for Down's syndrome families on the first Friday of each month at the Enable premises, 95 Causewayside.

DOWN'S FACTS

DOWN'S syndrome is caused by an extra copy of chromosome 21 inside some or all of the body's cells. People with Down's syndrome tend to have distinctive facial features, a flat profile and eyes that slant upwards, small ears and protruding tongue.

Many have heart defects and gut problems. They can also be susceptible to cataracts, hearing and sight problems and infections. In later life there's an increased chance of leukaemia and Alzheimer's. Down's syndrome is typically accompanied by varying degrees of learning difficulty and often accompanied by autism-type disorders.

The chances of having a child with Down's syndrome increases with age: it occurs in approximately one in every 2000 births to women aged 20 or younger, once in every 900 births to women aged 30 and one in every 100 births in women over 40.

Two-thirds of all Down's syndrome babies are born to mums under 35. And 20 per cent are born to mothers under 25. It is one of the most common congenital conditions.

Many children with Down's syndrome go on to attend mainstream school and many adults live independently and hold down jobs.

Last week, the world's first model agency representing people with Down's syndrome was launched in Dublin.

Down's syndrome people of all ages have been selected to join 1st Option Model Agency for potential work on the catwalk, advertising, catalogues and photoshoots.

Ireland has one of the highest Down's syndrome birthrates in Europe: one in 500 births, as opposed to Spain and Norway where the figure is one in 1000.

That comes as Down's syndrome actors are securing high profile television roles. Glee has featured actresses Lauren Potter and Andrea Friedman (inset).

Last year Andrea, who has also appeared in ER and other prime time US shows, sparked massive debate in America after politician Sarah Palin, who has a Down's baby, criticised animated comedy Family Guy for featuring a Down's character which later transpired was played by the actress.