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Treatment working for girl with rare condition suffered by only 80 people in entire WORLD which caused her to have seizures every five minutes

Sarah Bedford, right, with daughter Ella, 4, who suffers from a creatine deficiency disorder

Sarah Bedford, right, with daughter Ella, 4, who suffers from a creatine deficiency disorder

The parents of a little girl with a rare condition which caused her to have 250 seizures a day are raising awareness after she was misdiagnosed.

Andy Smith, of Aston Clinton, and Sarah Bedford, of Tring, were devastated when they were told daughter Ella, four, had a terminal mitochondrial disorder in December 2012 after she began having 250 seizures a day and lost the ability to walk and talk.

However, after the youngster had a convulsion at nursery and stopped breathing, the family were rushed to London’s Great Ormond Street Hospital where further tests revealed Ella’s condition was in fact treatable, and not terminal as first thought.

Dental nurse Sarah, 24, said: “It was a very emotional time, because we thought we were going to lose her. We want to raise awareness because the symptoms are very similar and it’s just horrific.”

The tests showed that Ella was in fact suffering from GAMT synthesis deficiency disorder.

It is believed she is the only child in England – and among only 80 in the world – who has it. It means her body does not produce creatine, causing the seizures and making her very poorly.

She takes 12 lots of medication per day, but the treatment has meant she is now well enough to attend Woodfield School for severe needs children in Hemel Hempstead.

Sarah said: “She’s made amazing progress, all to the credit of Woodfield. They are magnificent and I couldn’t have chosen a better school.”

Sarah is now in the process of organising fundraising towards the £1million cost of refurbishing the school’s hydrotherapy pool as a way of saying thank you.

 

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