THE BOY WHO SEES IN BLACK AND WHITE

“We thought it was weird when a cable once fell out of the back of the television and made everything go black and white and Kaleb hadn’t even seemed to notice,” says his mum, Sarah, 34.
“When the doctor told us he can’t see any colour at all it made absolute sense. He sees the world very differently from the rest of us.”
Kaleb has a rare inherited eye condition called achromatopsia. Affecting just one in 33,000 people it is responsible for blighting the cells in the retina which enable people to see colour and light.
The condition also means Kaleb is blinded by sunlight so when all his friends run outside to play on bright days he has to take cover from the rays.
There is a third symptom too. Kaleb struggles to see more than one metre ahead. “Although he is registered blind he manages very well with his glasses,” says Sarah.
“But they are the darkest glasses you can possibly get and they are stuck very close to his head, wrapping right around so that no sunlight whatsoever can get in.
“Without them his vision would be ‘whitewashed’ out by the sun and he wouldn’t function. He wears them all the time except when he’s in bed.”
Sarah and her husband Mark, 43, from Swansea, also have a nine-year-old son Kheld. They first realised something was wrong just a week after Kaleb was born. “We all noticed his eyes appeared to be ‘wobbly’ and as the weeks went on he wouldn’t focus,” says Sarah.
“We took him to the hospital, where a specialist told us he had nystagmus, a relatively common condition involving involuntary eye movement.
“So we went home and looked up the condition on the internet and the more we read about it the more we began to feel it was only part of the story. We felt there was something else wrong – something greater.”
As Kaleb got older Sarah and Mark became increasingly anxious. “If we looked at him it was as if he was looking at the space around our heads.
“By seven months old he couldn’t be outside when it was sunny. His eyes would go into tiny slits.
“Even when we were inside he’d need the blinds shut or would desperately reach for a towel or jumper to put over his head.”
When Kaleb was four his parents were finally told nystagmus was a symptom of achromatopsia.
Sarah says: “It was such a relief to find out exactly what it was but they also broke the devastating news that there is no treatment for his condition.”
It’s not that Kaleb copes badly, insists Sarah. “He is resilient and brave and doesn’t let it hold him back. He does Aikido martial arts classes and never complains. He is brilliant academically and has a particularly good memory.
“In fact he remembers exactly which shade of grey each of the primary colours are so at the moment his inability to see in colour doesn’t hold him back that much.
“He has a laptop for when his classmates look at the whiteboard and they tilt the blinds for him. He has a posture pack to elevate the desk in front of him and he also has one-to-one support.” However although the condition doesn’t progress with age Sarah and Mark do worry about Kaleb’s future.
“He has no depth perception at all and he won’t be able to tell the difference between shades of the same colour,” Sarah adds.
“He is likely to have trouble reading too because he can’t see fine detail such as the difference between an ‘o’ and an ‘a’. He will adapt within his limitations of course. But even now if you pass him something he often reaches in the wrong direction.”
Recently there has been some exciting news for the Permans.
In October 2010 Dr Michel Michaelides from Moorfields Eye Hospital in London was awarded a grant by research charity Fight for Sight to investigate the condition.
Last month Sarah was told gene replacement therapy could help achromatopsia sufferers. Treatment could be as little as four or five years away.
Dr Dolores Conroy, director of research at Fight for Sight, explains: “Advances that have been made in gene therapy for many inherited retinal eye diseases have been phenomenal in recent years.
“This research looks particularly hopeful because there has already been success in animals with achromatopsia whereby visual function was restored following gene replacement therapy. Humans are much more complex but if a treatment becomes available in the next few years this will make a significant difference for children such as Kaleb.”
Sarah says the family is excited. “So many people are busy fundraising. We’re doing raffles, cake stalls, face painting, which will conclude with a sponsored sky dive in June. We are hoping to raise around £15,000.”
Sarah says Kaleb is as happy and cheeky as any other boy his age.
“He doesn’t stop talking and because he remembers details from years ago his conversations are very amusing. He has us all in stitches and wins everyone’s heart.”

To find out about achromatopsia and the work of the charity Fight for Sight, visit http://www.fightforsight.org.uk or call 0207 264 3900. To support the Perman family visit http://www.justgiving.com/kalebseyes

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About contra

Film maker. Video game historian. Will put more in here this section soon!
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