Youngster fights two rare diseases

9:14am Monday 23rd October 2006

LITTLE Edward Mitten already had one incredibly rare medical condition.

So when he came down with a mystery illness this month, his parents were stunned to find out he had been hit with another almost as rare.

Now they have praised the "world class" care their little boy received at York Hospital after a sharp-eyed doctor diagnosed the highly-unusual illness and gave him prompt treatment that is likely to have saved him from serious heart damage.

Edward's mum, Alison, said: "It was frightening not knowing what was wrong, but knowing there was something very wrong.

"We were very grateful to the staff who were brilliant. I feel we were very, very lucky."

Edward, seven, of Union Terrace, suffers from the little known Pallister-Killian Syndrome, of which there are only a handful of cases in Britain.

Although Edward has a relatively mild form of the syndrome, it has caused him sight, hearing and learning difficulties.

Earlier this month, the youngster fell ill at home and developed a high temperature, bloodshot eyes and a sore neck.

His anxious family phoned their GP who recommended he should go quickly to hospital, where he was given tests and taken to the children's ward.

There, a quick-thinking doctor diagnosed Edward with Kawasaki disease, which affects one in every 25,000 children in Britain.

The disease can be hard to spot but if it is not diagnosed, it can lead to heart complications which are fatal in some children.

Edward was given a ten-hour transfusion of immunoglobulin - a group of proteins that act as antibodies.

He spent the next few days being closely monitored in hospital, but has now recovered enough to come home and will be checked for heart complications in two weeks.

Dr Alison Turner-Parry, the paediatrics doctor who spotted Edward's Kawasaki disease, said she had come across a couple of cases during her four years in York.

"You have got to fulfil a number of criteria to be diagnosed as having this particular illness," she said. "He was quite ill, he was very lethargic - he didn't look well at all. I'm pleased whenever I make a diagnosis on a patient - it's just another night's job."

Dr Rob Smith, Edward's consultant paediatrician and head of paediatrics at the hospital, said: "He's unlucky to have a rare condition to start with. We see one or two cases of Kawasaki disease a year in York.

"It's quite an important diagnosis. It's good that we've got doctors who can spot these things."

The diseases

Pallister-Killian Syndrome is a rare disorder that is caused by having four copies of a particular chromosome rather than the usual two.

It can cause a high forehead, sparse hair on the scalp, a wide space between the eyes, a fold of the skin over the inner corner of the eyes, a broad nasal bridge, learning difficulties, loss of muscle tone and streaks of colourless skin. Edward has a squint, an involuntary eye movement and wears a hearing aid. He goes to the mainstream Burton Green Primary School and has a statement of educational needs.

Kawasaki disease is also rare and is thought to be either caused by a bacterial or viral infection. Most cases occur in children aged between nine months and two years. It is also most common in children of Asian origin. About one in five children develop heart damage as a result of the disease.

Symptoms include a sudden onset of fever, red eyes, changes in the mouth like cracked lips, a blotchy rash, swollen lymph glands and swelling and redness of hands and feet. Treatment works best when it is given within ten days of the first symptoms, which reduces the risk of possible heart complications.

Parents back our appeal

AFTER Edward's frightening experience in hospital, his parents have backed our Guardian Angels appeal for a new high-dependency unit there.

Mum Alison said: "It's clear there's a real need for proper dedicated high-dependency beds and the trained nurse who's going to run the whole project.

"Edward is well known at the hospital for treatment over the years. We've got nothing but praise for the doctors and nurses there. This was a particularly intense time where it could have gone really wrong had they not spotted and treated it so quickly."

Our Guardian Angels appeal aims to raise £300,000 for a new high-dependency unit on York Hospital's children's ward that will transform the facilities it currently offers.