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Monday, 14 May, 2001, 11:32 GMT 12:32 UK
Sick children kept waiting 'too long'
Genetic testing
Many of the rare disorders are genetically inherited
A third of children with rare medical disorders are waiting more than two years to be diagnosed correctly, according to a report.

Doctors often have difficulty identifying the symptoms because they are so rare.

Support groups have also identified a shortage of diagnosis and treatment facilities as another cause of delay.

The charity Contact A Family (CaF), which commissioned the report, found that 15% of children with rare disorders had to wait more than six years for a diagnosis.

Rare disorders
Proteus Syndrome
Hunter Syndrome
Diamond Blackfan Syndrome
DiGeorge Syndrome
Duchenne Muscular Dystrophy

The survey of 20 support groups in the UK, representing more than 3,000 families, has been published to launch Rare Disorders Awareness Week.

Many groups reported members saying it was "the luck of the draw" if they were seen by a doctor who knew the specific condition and could spot it.

CaF has launched its "3-D Campaign" aimed at improving three areas :- doctors and diagnosis, daily living, and development of treatments.

CaF chief executive Francine Bates said: " "Rare disorders are simply not given a high enough priority on the public health agenda.

"For many of these disorders there are treatments available which could at least alleviate, if not cure, the condition.

"Not to provide this is both shortsighted and more costly in the long term."

There are more than 8,000 conditions worldwide which are classed as rare disorders.

Medical expertise

These include Proteus Syndrome, which causes overgrowth of bone and tissue and was the disease which affected the Elephant Man, and Rett Syndrome, which occurs only in girls and causes gradual slowing of development and growth.


Rare disorders are simply not given a high enough priority on the public health agenda

Francine Bates, Contact A Family

Rett Syndrome Association director Anna Salamonowicz said: "We appreciate doctors have patients coming in with a variety of medical needs and there are a variety of disorders which are quite mind boggling.

"But we hope doctors will have access to information rather than parents having to begin by educating doctors."

The charity, runs "diagnostic and management" clinics for children with Rett Syndrome, but believes funding for such facilities should be met by the Department of Health.

Paediatrician Dr Alison Kerr, who leads one of the diagnostic and management clinics, said: "Rare disorders are going to be more difficult to diagnose and doctors are unlikely to have seen a rare disorder and that will delay things.

"The more rare disorders are taking longer to pick up.

"I think it is an important matter for the Health Service to facilitate and not to interfere.

"They have to stand back and listen to advice from people who actually know about the diseases."

More than 60 children in the UK are born with a rare disorder every day and 4m children and adults in the UK suffer from rare disorders, which are often chronic, progressive and disabling and sometimes life-threatening.

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12 Oct 00 | Health
Genetic test first for UK
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