Yeovil family's quest to help Amber

By [tbevan]

A YEOVIL couple are coming to terms with the fact their young daughter could die at any point after she was diagnosed with a condition so rare it does not even have a name.

After a long-fought battle to discover what was wrong with three-year-old Amber, doctors have told Adrian and Carol-Anne Partridge that she has a genetic condition that has only 140 cases recorded worldwide.

Alongside untreatable epilepsy which can result in up to 100 seizures a day, the symptoms of the condition – which is only identified through its gene name CDKL5 – are far reaching.

Their beautiful little girl will never walk or talk and has limited vision.

Amber is now part of groundbreaking research which aims to find a cure – or at least a way to alleviate the suffering of those afflicted.

Mrs Partridge said that with the tragic death of Tory leader David Cameron's eldest son, Ivan, last week from an epileptic seizure, the diagnosis has been made even more frightening.

"We have now had the realisation that Amber could die at any point from a seizure and just serves to show how fragile children like her are," she said.

Amber also suffers from severe developmental delay, has limited use of her hands, severe gastro problems and multiple food intolerances along with sleep disturbances and autistic tendencies.

With no treatment available to cure the relentless seizures, Mrs Partridge says that the way of life for her whole family has changed as they struggle to cope with the difficulties of raising a severely disabled child. A Australian-based pilot study into the condition hopes to find out the cause and start working on a treatment or a cure.

Despite this, Mrs Partridge, aged 36, of Thorne Lane, said Amber's diagnosis just three weeks ago was a relief after years of being told they would never find out an exact cause.

"We have been told by so many people to give up and that we would never get to the bottom of it," she said.

"But as parents you want to find out what is wrong with your child and even though we were told we were going to have to stop looking, we never gave up on finding out."

Despite all of Amber's difficulties Mrs Partridge said that her daughter was an "absolute angel" and gives kisses to all her family including her two brothers Nathan, aged 12, and Cameron, ten, who she said have been absolutely brilliant in helping their little sister.

What Mrs Partridge described as "more than three years of hell" started when she suffered a difficult pregnancy and at a 28-week scan was told that she was carrying excess fluid.

She and her husband, 45, were told that it could be down to a range of causes from a genetic condition to the baby simply being large. She then decided on a caesarean.

She said: "We noticed from day one that she made funny noises and was very floppy, but doctors did not pick up anything wrong and she passed a medical check at six weeks old.

"Then at 14 weeks old she had her first fit and within a few days, it had turned to full blown seizures."

An endless round of tests, scans and medical checks followed, taking them to Bristol Children's Hospital, Newcastle Royal Victoria Infirmary and Great Ormond Street Hospital in London.

In August 2006 they were told that she was suffering from infantile spasms – a form of epilepsy.

"We were given the heartbreaking news that we should not bother to teach her to read and write and that she would be in nappies well into her teens," said Mrs Partridge.

"They said to us that we only had to look at her today to see what the future held.

"But that was a turning point and from then on I just read up and researched everything I could and got her to hospital every time I thought there was something that needed checking."

Two years ago Mrs Partridge read a magazine article about a little girl with the extremely rare condition CDKL5 and said the story just struck a chord with her.

"What was written was exactly how Amber was at the time and I asked for a genetic test to be carried out," she said.

"Then in September 2007 we were referred to Frenchay Hospital in Bristol for Amber to be assessed for epilepsy surgery and we first met our current neurologist who believed there was a diagnosis to be made which just made us even more determined."

Having attended Yeovil Opportunity Group at the Balidon Centre, Amber has now started attending Fiveways School for two sessions a week.

Not resting on her laurels, Mrs Partridge has experimented with numerous diets to try and ease the symptoms of Amber's condition and is now the South West regional co-ordinator for a charity called Matthew's Friends which supports children, parents and professionals on a ketogenic diet – high fat and low carbohydrate.

Further information on the charity can be obtained by visiting the website www.matthewsfriends.org