Kate's one in 60 million

WITH her cheeky grin and infectious giggle, Kate Whiting is a happy four-year-old who loves school and is popular with all her classmates. But what her smile does not show, is that she has a medical condition so rare that scientists can not even give it a name. SARAH GILLETT found out more.

EVERY parent thinks of their child as one in a million.

But little Kate Whiting's mum and dad know she really is one in at least 60 million - as she suffers from a chromosome disorder so rare that it is not believed to affect anyone else in the UK.

“She has a small duplication on one of her chromosomes and her doctors don't know of anyone else in the UK, possibly in the world, with that same duplication,” said her mum Joanna.

The disorder, which is so rare it does not have a name, has caused a variety of symptoms in Kate including learning difficulties and problems with her mobility, but there is no knowing how it will affect her in the future.

“Because there is no-one else that they know of who is affected in exactly the same way, the doctors have no history on it,” said her mum.

“We can't compare her with other children that have got genetic disorders. There's no guidance to say she should be doing this, this and this.”

While Joanna admits that the lack of insight in to the future can be daunting at times, she said it also means that she and Kate's dad, Andy, have learned to live for the moment.

“Because we've got nothing to base her development on, we don't have any great expectations. Every achievement is a real milestone for her.

“We take every day as it comes. Every achievement and step she makes are celebrated,” explained Joanna.

The condition was first diagnosed after Kate suffered a number of fits when she was just six months old

“She had two fits quite close together so doctors decided to carry out brain scans, and that's when they realised that something was not quite right,” said Joanna.

“It was the most awful thing to have to go through because we just had no idea what was wrong.”

After several tests at Ipswich Hospital and Addenbrooke's in Cambridge a doctor suggested a chromosome test and in November 2003 the family, who live in Bixley Drive, found out about Kate's unique condition.

“Although it was helpful in a way, it did not really make much difference to us, because at the end of the day Kate's still Kate,” said Joanna.

Doctors at Addenbrooke's hospital are continuing to study Kate's development in order to help other families who may have children with the same condition in the future.

One of the biggest problems the condition has caused is a delay in Kate's ability to speak. She can say the odd word but her speech is not as developed as it should be in a four-year-old.

Joanna said: “Communication is the major problem but we use Makaton and British sign language to help her convey things.”

The family also use a book full of detachable pictures, of everyday objects like shoes or different items of food which Kate can pull out and show to people to express what she wants.

As well as her speech, Kate's mobility is also limited and she has regular visits from a physiotherapist.

“She has very poor muscle tone which means she can't really walk any distance. She will have little spurts of running about in the house or in the garden but she can't go very far.

“It also means she is not able to crouch down like other children and she struggles with her balance too.”

Recently, the tendons in the backs of her legs have started to get tight, meaning she has to wear splints at night to stretch them - but even the splints, which are pink and covered in flowers, reflect Kate's cheeky personality.

Despite the obstacles she faces Kate is a smiley, chatty four-year-old with an infectious giggle and has proved herself to be very popular with her classmates at Thomas Wolsey School.

“Her giggle is the main thing that everybody notices about her, she's generally a very happy little girl,” said Joanna.

“She absolutely loves school and has been going part time since she was about three and a half. They've been absolutely brilliant with her and she's got lots of friends there.”

In September Kate will start spending one day a week at Broke Hall primary, the family's local mainstream school, where she will have one-to-one tuition.

Joanna said: “She has most of her therapy at school but there are a lot of little things that I can do at home as well. We do them as and when we can because her concentration is limited. We just slot things in to everyday life really.

“Her trampoline is a good example, she loves playing on it but it is actually a very good form of therapy for her legs without her even realising it.”

While hospital visits have reduced over the years, Kate still needs regular check-ups with the paediatrician at Ipswich Hospital to check on her progress.

The family also have regular meetings with geneticists at Addenbrooke's so that the experts can keep their reports up to date, but overall they are keen for Kate to lead as normal a life as possible.

Joanna regularly takes her to nursery where she can mix with able-bodied children. She said: “It helps her to maintain her independence and a sense of normality.

“As long as she remains happy and continues to enjoy life that's the main thing.”

Even among the more common "rare" disorders, it is likely that the professionals in the local community - the GP, social worker or even hospital specialists - will have never before come across anyone with the same disorders, so the usual sources of support are not available to affected families.

The vast majority of families have a desperate feeling of isolation. Kate's family were greatly helped by the Suffolk School for Parents in Sproughton, a charity that supports pre-school children with motor-learning difficulties. For more information on the school see: www.ssfp.org.uk

Weblink: www.rarechromo.org

Kate's condition is caused by a small duplication on her x chromosome.

Because of the complicated structure of chromosomes there are thousands of different mutations that are possible, so while there may be no-one else with exactly the same duplication as Kate, there are many children who suffer from what are known as rare chromosome disorders.

Rare chromosome disorders include extra, missing or re-arranged chromosome material but do not include the more common chromosome conditions such as Down's Syndrome.

One in every 200 babies is born with a rare chromosome disorder, but only one in every 1,000 babies has symptoms from birth or early childhood. The rest are usually affected when they grow up and try to have babies of their own. They may have multiple miscarriages, fertility problems, stillbirths or the birth of a disabled child.