Cystagon

CIAN and Ailbhe O'Cathasaigh are two of the bravest children in Ireland. As they race round their playroom the brothers look like perfectly normal, healthy boys.

But in reality Cian, five, and two-year-old Ailbhe both suffer from cystinosis, a rare and potentially fatal genetic disorder.

Only 1,000 people world-wide suffer from the condition, with just nine living in Ireland. The odds against the boys' parents both being carriers of the disease were heartbreakingly millions to one.

But thanks to devoted dad Albert and mum Seanradh, the youngsters are continuing to beat the odds and thrive despite their deadly condition.

The loving parents have now vowed they will have no more children because of their sons' condition. Little Cian was two years old when he was diagnosed with cystinosis.

His parents knew almost immediately that something was wrong with their son.

But it was two years later and only after spending two months in hospital that docs finally figured out what it was.

Albert said: "Cian went through an awful lot before he was diagnosed.

"We realised something was wrong only a few months after he was born.

"Cian constantly wanted water, he would wake up screaming for water in the middle of the night.

"When he was two he was initially diagnosed with a different thing altogether.

"But when we contacted a doctor in America we were told he didn't have that either, and it was straight back to the drawing board."

Almost immediately the toddler was struck with crippling headaches.

Albert said: "We got really worried when he started complaining of headaches because small children never get headaches.

"But when we got to the hospital the doctor told us to just give him Calpol.

"Seanradh just exploded, she lost her head and demanded he was going in for tests and she was going with him.

"And that was it, they both went in and neither of them saw our home for another two months."

Pregnant Seanradh stayed at her son's side as he was shunted from hospital to hospital, while Albert was forced to give up his job to care for his wife and child.

At one stage Cian's blood pressure rocketed until doctors feared he would have a stroke.

The tiny tot's appetite plummeted and docs were forced to fit a feeding tube to keep him alive.

Albert and Seanradh thought they had hit rock bottom - until Cian was diagnosed with cystinosis just months before the birth of their second child.

Albert said: "When they eventually diagnosed him we were just shocked, completely gutted.

"Seanradh kept worrying would the next kid suffer from the same thing?

"And then Ailbhe was diagnosed three days after he was born."

Because Ailbhe was diagnosed early he escaped some of the problems associated with cystinosis.

But little Cian was dogged by years of ill health, even suffering from crippling rickets. Albert said: "Cian at one stage was on 27 different medications.

"At one point he was getting up at 7.30am and literally running all day until 2.30 at night.

"He was literally run off his feet and we had to tell the doctors to reduce the medication. Then he came down with rickets, which are fairly common in kids with cystinosis.

"The insteps of his feet collapsed, bringing his knees together and he would wake at night screaming with the pain in his legs.

"Now he has to wear special leg braces when he sleeps - but since the first day he got them he could run again."

The brave couple vowed not to let cystinosis beat them, and turned to the internet for advice.

They refused to let docs insert a feeding tube into their newborn son's stomach and instead looked for a better solution.

Albert said: "When Ailbhe was born the doctors immediately said he should have a gastro tube put into his stomach for feeding. They said all kids with cystinosis needed one.

"But when we researched it ourselves on the internet we discovered not all kids with cystinosis have the tubes put in, in fact its around 50-50, and there are a lot of negatives associated with the tubes.

"If you don't eat, you don't swallow, and the muscles in your throat don't develop so you need speech therapy.

"Kids who have gastro tubes fitted also end up with super sensitive mouths because they're not used to having anything in there."

Instead Albert and Seanradh decided to use revolutionary new eyedrops that had NEVER been used in this country before.

The special cysteamine drops work by flushing toxic crystals out of the body that would otherwise build up, leading to blindness and organ failure.

But the drops must be inserted every six hours, forcing Albert and Seanradh to wake their kids up at least once every night.

Albert said: "They were the first kids in Ireland to use the drops and the first kids to get their eyes clear.

"But initially using the drops was very hard, at one stage we were doing it 12 to 13 times a day.

"We sat Cian down and said to him look, this is life, we have to do it and that was that.

"Kids with cystinosis can go blind in their teens.

"The crystals build up in their eyes and when the light comes in it gets scattered. At the moment we use the drops four times a day, every six hours.

"Our kids, no matter what they're doing, have to have the drops every six hours, we even have to wake them up at night to give them. They're also on medication called cystagon that slows down the progression of the disease.

"If they weren't they would need a new kidney by the time they were six."

The pressures of being parents to two children with serious medical problems mean the O'Cathasaighs will never have another child.

Albert said: "The boys are very healthy now but it takes a lot of work. As for the future, nobody knows because cystagon only been out since 1995.

"The oldest person in the world with cystinosis is 40.

"Drug firms aren't interested in finding a cure because only 1,000 worldwide suffer from cystinosis so they aren't going to make money out of it. We're trying to raise money to pay a researcher to try and find a cure.

"Having a child with a rare genetic disorder can be heart- breaking, but at the moment Cian and Ailbhe are two happy healthy little boys, and we're going to do everything we can to keep them that way."

ANYONE who would like to make a donation towards finding a cure for cystinosis can send an email to cystinosis@eircom.net.

CYSTINOSIS.. WHAT IS IT?

Cystinosis is a very rare degenerative disease that mainly affects children.

Sufferers have a genetic condition that causes an abnormal amount of an amino acid called cystine to build up in their bodies.

Symptoms include failure to thrive, excessive urination, severe thirst, dehydration and rickets.

Cystinosis also causes muscle wasting, breathing and swallowing difficulties, blindness, dementia and, if left untreated, death at a very young age.

1,000 people world-wide have Cystinosis, with only nine living in Ireland.

There is no known cure so life expectancy still remains uncertain.

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