THE mum of a Tibshelf boy who is the only person in the country to have been diagnosed with an extremely rare genetic disease is hoping to spread the word about the condition so that more people are made aware of it.
When 10-year-old James Cheung was diagnosed with IMAGe Syndrome at just a few months old, he was just the fifth person in the world known to have the condition and there are still thought to be less than 20 sufferers worldwide.
IMAGe affects James’ growth and means he has an adrenalin insufficiency due to having no adrenal glands.
He also has mild learning difficulties and moderate deafness, but James refuses to let his problems get him down.
Mum Louise, of Staffa Drive, said: “He copes amazingly well.
“He has got such warmth about him and very rarely complains about anything.”
James was born prematurely at 32 weeks, weighing a tiny 2lb 3oz, but Louise said that she thought he was just a small baby.
It was only when he went for tests at Great Ormond Street hospital months later that that it became apparent that he had the rare condition.
“It was a shock,” she said.
“At first, when I was told I was going to have a small baby and he had to be delivered because they didn’t know why he was small, I just thought it meant he was small.
“I didn’t think there would be so many complications.
“To be told that there’s so few cases in the world and none in the UK, it makes you feel very, very isolated.”
James has to take tablets to replace his adrenalin everyday and has an injection of growth hormone every evening.
They also have to be careful that he does not get sickness bugs as this can mean he needs emergency adrenalin injections.
James has recently been honoured for his bravery by receiving a Derbyshire County Council Young Achiever’s Award.
He was nominated by his headteacher at Town End Junior School, Jonathan Dey, for his hard work and positive attitude.
“He finds school difficult and has to work probably the hardest out of everyone in the class, but he will even give up part of his playtime to finish something off,” said Louise (43).
“Even the other children at school have commented on how brave they think James is.”
However the one thing that James’ family want is for a cure to be found to IMAGe Syndrome - which has only been around since the 1990s.
“We are not aware of any cures for it.
“I don’t know if gene therapy is something that could be used in the future but I don’t know if that’s likely,” Louise said.
She is constantly on the internet searching for information about the condition and though there is no support group for IMAGe because it is too rare, she is involved with groups that support people who suffer from some of the features of it.
But Louise does want to find other sufferers to share experiences and hopes that by raising awareness of the condition, other people who may also have IMAGe can be diagnosed.
“I would love to find other families that we can talk to,” she said.
“They may not be as old as James yet, but if we can share some of our experiences that would be wonderful.
“You start to feel less isolated because you talk to someone who’s going through the same issues and that would be helpful.
“That’s why I am trying to raise awareness of the condition, because there will be people out there that think ‘maybe that’s what our child has got’.
“If we can find others with the same group of features as the condition, that can only be a positive thing.”