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Last Updated: Sunday, 13 April, 2003, 00:06 GMT 01:06 UK
'I lost my daughter'
Jane Elliott
BBC News Online health staff

Naomi Best
Naomi's parents were baffled by her condition
When she was just one year old, Naomi Best's development stopped.

Her family noticed she was no longer developing skills and losing the ones she had.

She began screaming for no reason and could not sleep.

Her family was desperately worried - but it was not until Naomi reached the age of nine that her parents discovered she had the neurological disorder Rett Syndrome.

Now aged 25, Naomi has lost all her speech skills and most of her motor skills.

She lives in a nursing home, although she makes frequent trips home.

And her family are still learning about the condition.

Now the Genetic Interest Group have launched a website to give information about diseases like Retts to patients and families like the Bests.

What is Rett Syndrome?
A neurological disorder often misdiagnosed as autism or cerebral palsy
It is caused by a defective gene, found on the X chromosome and occurs almost exclusively in females
Development of the child seems normal until between six and 18 months, when acquired skills are gradually lost
Additional problems can include seizures, breathing problems, teeth grinding and curvature of the spine

But, as Janet Best explained, nothing was around when her daughter first started to show the symptoms of Retts.

"When she was about 15 months I started noticing problems.

"She had whooping cough and I thought at first the problems were something to do with that.

"She started screaming and when she picked up her toy telephone would put it in her mouth instead of holding it to her ear like the little girl next door.

"She could not build bricks.

"She would just put them in her mouth, whereas before she used to pick them up and hug them.

"Her speech began to drop, although she had never had an extensive vocabulary.

"She never pointed at anything and that was something that was a worry to me."

Naomi and Janet Best
Naomi's family are still learning about her condition

Despite starting to cruise round the furniture at 11 months, Naomi was reluctant to walk and did not take independent steps until she was 21 months.

And then her problems got much worse.

"It was a really very distressing time.

"We had not suspected she would develop epilepsy and breathing problems, but she did.

"And she started to wring her hands all the time."

When she was nine Naomi's condition was diagnosed.

Her mother explained that although the confirmation of her condition was distressing, it at least gave them some insight into how Naomi would progress.

They were able to ensure she had regular physiotherapy and hydrotherapy to avoid her becoming wheelchair bound and to keep her walking skills.

"You can't just accept the condition.

"You go into grief.

"You have lost your child.

"But she is still there and she has not changed, she is still the child she was.

"It is your expectations that have changed."

Genetic disorders

Melissa Winter, a spokesperson for the Genetic Interest Group, explained how their website helps families like the Bests.

It offers comprehensive information on genetic disorders, but perhaps most helpful for parents and sufferers are the personal testimonies.

These testimonies offer an insight into what it is like to live with a genetic disorder and enable the newly diagnosed to use other peoples experiences to help them to cope.

"Some of the people using the website have quite rare conditions so it is good for people to see they are not the only one with it," she said.

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