‘It’s not something to be scared of’

MOST people have heard of Down syndrome, but not everyone knows exactly what it is and how it affects people’s lives.

Also known as trisomy 21, Down syndrome is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is usually associated with physical growth delays, mild to moderate intellectual disability, and characteristic facial features.

‘Down Syndrome is actually not scary,’ insisted Helen O’Hara of the Guernsey Down Syndrome Group.

‘I think people are a bit wary of knowing how much someone with Down syndrome can do. There are different levels, but all the children are capable of different things. They can do everything, but at a slower pace.’

The local group includes a range of people with Down syndrome, of varying ages and abilities. Among them are children who can compete with their peers at reading, who excel at swimming, and adults who are holding down jobs and living independently. One young adult has gone away to the UK to study at Foxes Academy, a specialist college and training hotel where young people with learning disabilities can gain qualifications and work experience.

Helen got involved in the group after the birth of her son, Fletch. As well as being diagnosed with Down syndrome, he had heart problems and a rare blood disorder and has had to have multiple surgeries.

He has had to fight so many health battles in his short life that his DS has been the least of his parents’ worries.

At five years old, Fletch is now thriving at mainstream school and Helen and husband Dan could not be prouder.

‘My dream is for him to live as independently as he can, but most of all for him to know he’s loved. He’s got so many friends. Fletch is really social,’ said Helen.

‘There’s never a dull moment with him.’

‘It’s hard but what he gives us is amazing,’ added Dan.

‘It’s opened my eyes to other people with differing needs. It’s certainly been a big learning curve.

‘For me, it’s the simple things – there are some things, like surfing, that I want to be able to do with him that are harder.

‘But seeing how excited he gets when he accomplishes something is the best thing.’

The couple were initially worried about how he would cope when he went to school, but their fears proved unfounded. He needed a walking aid when he first started, but progressed so quickly in his first year that he was able to take part in the sports day races.

‘The whole school was cheering him. It was the best moment,’ said Dan. ‘Moments like that make us really proud.’

Georgie Le Patourel seemed perfectly healthy when she was born back in December 2008.

‘We didn’t notice anything wrong with her at first,’ said her mother, Michelle Bougourd. ‘She didn’t have any of the visual signs at birth.’

Then after she started having problems with feeding and growing, she was diagnosed with Down syndrome at three months old.

‘We were told she’d need major heart surgery at the same time, so the Down syndrome just paled into insignificance,’ said Michelle.

Now 11, Georgie is doing well and wants to become a nurse when she grows up. ‘I want to help people and save people,’ she explained.

As for hobbies, she said: ‘I like dancing, singing and music.’

Teah Marquis, 19, doesn’t let her DS hold her back. She has two jobs, working at a pet shop and care home, and a busy social life.

‘As soon as Teah was born, I knew she had Down syndrome,’ said her mother, Kim Marquis. ‘I was shocked but really protective.

‘The worst thing anyone ever said to me was “I’m sorry”. Why are you sorry? I’m not. It’s not something to be scared of.’

Teah is the second of four children and the life of the party wherever she goes.

‘I think a really important thing for Teah was attending mainstream school. It gave her the confidence to go out in the world,’ said Kim.

‘It’s also good for the other children as they might not meet a child with a disability otherwise.’

When Teah expressed an interest in getting a job, Kim put an advert on Facebook and managed to find her some paid work.

‘I work at the pet shop,’ said Teah, proudly. ‘I do the waters for the rabbits and I do boxes. They have guinea pigs there as well. I don’t like the hamsters. I like dogs though.’

She is also doing a catering assistant course at the College of Further Education and her hobbies include drama, arts and crafts, and boxercise. ‘I’d like to do football too,’ she said.

She’s also been learning to drive around a car park.

‘I don’t have enough chillax time,’ she admitted.

Does she think there are things others can do that she can’t?

‘It’s difficult sometimes, things like holding the kettle or reaching pots on the stove. I need a step. But I’m good at other things. I’m good at making people laugh.

Tim Evans, 33, also lives a full life. He swims with Guernsey Marlins and Guernsey Disability Swimming, attends the Gateway Club, Friday Club and Day Centre.

‘He’s got a very busy social life,’ said his older sister, Rachel Lee.

‘He’s at Nouvelle Maraitaine and it’s nice for him to have his own place. He does his own washing and cleaning.

‘It’s things like trying to find a job that can be hard.’

Rachel admits that having a brother with Down syndrome has not always been easy.

‘I was 10 when he was born and he got all the attention. I wouldn’t have swapped him, but you do feel you get pushed to the side. I felt protective of him, but it was a big change after 10 years without him. It’s also knowing that if anything happens to my parents, he’ll become my responsibility.’

Rachel now has three children of her own.

‘Even my 12-year-old helps him out,' she said.

‘And having a brother with Down syndrome meant that when my children met others with DS at school they became really close.’

In the public eye

People with Down syndrome all over the world are achieving amazing things and breaking down barriers every day. Here are a few famous high-flyers....

• Zack Gottsagen – An award-winning actor, best known for his starring role alongside Shia LaBeouf in the film The Peanut Butter Falcon.

• Isabella Springmühl Tejada – The first fashion designer with Down syndrome to be featured at London Fashion Week.

• Madeline Stuart (pictured right) – The first professional supermodel with Down syndrome.

• Jamie Brewer – The actress and model was the first woman with the condition to model at New York Fashion Week.

• Lauren Potter – An actress, best known for her role on Glee, as well as an activist and goodwill ambassador for the Special Olympic World Games.

• Pablo Pineda – An award-winning Spanish actor and the first European with Down syndrome to obtain a degree: he holds a BA in educational psychology, as well as a teaching diploma

• Ángela Bachiller – The city councillor for Valladolid, in Spain, since 2013. She is the first person with Down syndrome to hold public office in Spain.

• Sujeet Desai – An accomplished musician from New York, who can play seven instruments: piano, violin, drums, Bb clarinet, Bass clarinet, trumpet, and saxophone. He received a standing ovation for his 2015 performance at Carnegie Hall.

• Karen Gaffney – A swimmer who has won two gold medals in the Special Olympics and was the first person with Down syndrome to complete the English Channel relay race, among many other challenges.