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Wednesday, 20 February, 2002, 17:36 GMT
Waiting for a diagnosis
Sarah Craigie and duaghter Georgia
Sarah Craigie's daughter Georgia needs tests
By BBC News Online's Peter Gould

Families of children who suffer from a rare neurological disorder could soon benefit from a network of special clinics.

The regional "centres of excellence" are being planned by the Rett Syndrome Association UK, which hopes to win financial support from the government.

The syndrome is named after the Austrian doctor, Andreas Rett, who first identified the condition, which mainly affects young girls.


The dream is that one day there will be a cure

Anna Salamonowicz
Rett Syndrome Assn

About one in every 10,000 baby girls is born with the genetic defect.

It is thought there could be as many as 3,000 cases across Britain, but many are believed to have gone undiagnosed.

Although the disorder is present at birth, it does not usually become evident until the child is several months old. Speech and hand movements are impaired, and epilepsy often follows.

Diagnosis

The Rett Syndrome Association represents 580 families, many of whom have had problems getting a diagnosis, or the support they need to look after their children.

Rett Syndrome sufferer
One girl in ten thousand has Rett Syndrome
"It is a very difficult time for families," says the association's director, Anna Salamonowicz.

"They know something is wrong with their child, but various tests have to be done, so it takes a while to get the diagnosis, and the results are not always given to parents in the best possible way.

"Some families have been looking for a diagnosis for years, particularly in older age groups.

"Sometimes they have found out about Rett Syndrome by turning detective. They may read things, or even bump into another family in a supermarket and see a child with behaviour that looks familiar.

"Our families are very keen to raise awareness of the disorder, because they do not want others to have to struggle like they have."

Lifeline

As patron of the association, Labour MP Ann Clwyd is supporting efforts to get funding from the Department of Health to establish a network of clinics.

"It is a wonderful organisation which provides a lifeline for hundreds of families in the UK," she says.

The symptoms
Regression in speech and hand movements
Repetitive hand movements
Stiff or clumsy posture
Slowing of head growth
Epilepsy in many cases

"These clinics will increase the number of professionals directly involved in Rett Syndrome and will also provide a model of best practice, which can be used across other complex medical conditions."

The plight of families who spend months or years trying to get a diagnosis for an unexplained neurological condition has been highlighted during the BBC's NHS Day.

When News Online set up an "ambulance cam" at Lakeside in Essex, one of the callers was Sarah Craigie from Dagenham.

Her daughter Georgia is now three, and is severely disabled. She has been seen by various doctors at different hospitals, but the cause of her condition has still not been positively identified.

"We have been waiting eight months for DNA tests to be carried out," says Sarah.

"We have also been waiting three months for a test for Rett Syndrome, but the hospital now says it has no record of the appointments being made, and so we are still waiting."

Faulty gene

Georgia appeared to be a normal healthy baby, and began to sit up and talk. But then her condition began to deteriorate, and she started to suffer from seizures.

Ann Clwyd MP
Ann Clwyd MP supports the plan for new clinics
"She has no quality of life now," says Sarah.

"We just don't know where we are... there is no indication when the tests will be done. It is so frustrating."

The faulty gene that causes Rett Syndrome was only identified in 1999, and a blood test can now diagnose about 85% of those who suffer from the condition. This is one of the tests Georgia is awaiting.

Because it is such a rare condition, doctors may go for years without seeing a case... or recognising one. The association is trying to raise awareness in the medical profession.

At present there is no known cure, although it is hoped that genetic research will provide a better ways of treating the condition.

"There has been an explosion of interest since the discovery of the gene," says Anna Salamonowicz.

"The dream is that one day there will be a cure, although I think that is far in the future. But every breakthrough helps the families of these children."

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