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

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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.

 

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