Why Jeans for Genes is vital for Harry, whose disorder left him with mental age of 18 months

Each year hundreds of thousands of people pay out for the privilege of wearing their jeans to school, college or work to raise awareness and funds for children’s genetic disorders.

And it is a cause very close to the hearts of ten-year-old Harry’s family as he is one of those already benefiting from the fundraising carried out by the UK children’s charity Genetic Disorders UK, which organises the annual event.

Harry has fragile x syndrome, attention deficit hyperactivity disorder, mannose-binding lectin deficiency, which affects his immune system, and hypermobility.

His mum Louise, 36, had absolutely no idea she was a carrier of the gene when Harry was born.

She already had a little boy, George, now 14, and there were no complications.

Looking back, she says she realised straight away that something was not right following Harry’s birth.

“He was blue for the first week, I called him my little Smurf, and he was floppy and just would not latch on to breastfeed at all.

“From then on he got infection after infection really and was diagnosed with an auto immune disorder after he was pretty much poorly on a weekly basis.”

As he got older, Harry was not developing as his peers were and by the time he went to nursery he was not speaking properly.

“He did not really speak until he was four and he never crawled. Every step he seemed to take forward in his learning and development, he took another three or four backwards,” explains Louise.

Having spent the first three years of his life trying to get help and support for Harry, it finally arrived when Harry was given the diagnosis of fragile x syndrome when he was three.

“Then everyone wanted to help and I wondered where they had been all that time,” she says.

As well as being fragile x Harry is also autistic, has social disabilities and severe learning difficulties.

Louise says it is not clear how much of that is due to the genetic condition he was born with.

She explains all of the family, including George, were tested and it was discovered Louise was a carrier and, unknown to her, would also suffer health complications as a result of it.

“I went through the menopause at 26, two months after Harry was born which was a symptom of the Fragile X.

“It was very hard because the decision of having more children was taken away from me,” she says.

George was found to neither be affected or a carrier of the gene.

“It is a really complicated thing to explain, but basically there are x and y chromosomes that go into making a baby, xx is female and x is male.

“And that x mutates in me and is not always good. So in simple terms, George got my good x, but Harry got my bad x,” adds Louise.

Since his birth, Louise, who also works running two businesses, including the family farm, has been her son’s sole carer with some support from outside agencies.

Going out is very hard for Harry who finds the outside world a terrifying place.

“When he gets scared or upset his behaviour is then affected and he goes into meltdown.

“And he is now a big boy and I am pretty much the only one who can cope with him.

“I can also have quite negative reactions from other parents and children who can say unkind things.

“We have some cards now that we can hand out to people to explain about Harry’s condition, but I would like people to be a bit more tolerant, to ask their children not to stare and to perhaps give him some space.

“It is basically like dealing with a giant toddler, he will never mentally develop beyond about 18 months.”

As a result, Harry has been out of education for two years after the special needs school he attended was unable to cope with him any longer.

Louise says as Harry rarely goes out, she has set about working every hour she can to raise enough money to transform her home into a safe environment for him and his friends when they visit.

He has a sensory room and garden as well as a fully equipped bedroom which is padded so he cannot hurt himself.

“There are no triggers with Harry as to when he is going to suddenly become angry, so it is important he is safe at all times.

“I am in the process of trying to create a tactile wall for him in the garden now and there is a swingset out there I got him too.

“We both still need to stay in touch with other people and having a safe home means we can do that,” she says.

The Newlife Foundation for Disable Children has been able to finance a specialist buggy which Harry took delivery of at the end of May.

It means he and the rest of his family will be able to enjoy getting out and about near their Little Clacton home.

She adds: “He is a patient at Addenbrooke’s Hospital and may be required to wear a hip brace, so a posturally supportive buggy will be key to his medical care needs.

“The buggy is used by the family and his support workers on a daily basis and makes it easier to get him out into the community as well as aid regular trips to the hospital – its recline feature means he can be in a more relaxed position, which isn’t possible with his existing wheelchair.

“Harry can hide behind the canopy so he doesn’t have to directly face the world, which will help him deal with being out.”

Louise adds: “When I talk about it, it seems like a lot to deal with, but when you are living it, that is your life and we just get on with it.

“I wouldn’t change him for the world.

“I would take his pain away and I would love to be able to slow his little brain down.

“But apart from that he is a very funny, very sweet little boy. But it is when he is out of my care that it becomes a problem.

“His condition seems to have baffled everyone, medical professionals and mental health workers,” she adds.

• Jeans for Genes Day is on Friday September 23 and invites everyone to wear their jeans to work or school and make a donation.

For more information, click here.