A NANTYGLO girl has finally had the diagnosis she has waited her whole life for, after battling with an extremely rare condition.

At just nine-years-old little Ellie Pyle has faced unimaginable daily challenges as she suffers from general developmental delays, meaning her speech and co-ordination skills are unusually slow to develop. Her sight and hearing are also deteriorating and she has epileptic fits.

Doctors had unable to provide an answer until now and Ellie has been diagnosed with Cask Mutation, a rare condition which means one of her X chromosomes had a defect.

The youngster's mum said she believes Ellie is one of only 60 children in the world, and the only child in Wales to have been diagnosed with the condition.

The mystery illness started to develop when Ellie was around six-months-old and ever since her mum and full time carer, Sarah Smart, 30, has been determined to find out what it means for Ellie's future.

The Argus reported in previous years how Ms Smart has continually been hoping her daughter's illness would be diagnosed. As far back as December 2009 Ms Smart hoped she would find out that New Year.

“Her mystery illness has been diagnosed as Cask Mutation,” Ms Smart said this week.

“Ellie is one of only 60 children in the world to have been diagnosed with this.

“There are only a handful of children in the UK [who have the condition] and she is the only one in Wales with it.”

Although the diagnosis doesn’t change the way Ellie is and the way she will be in the future, the family feel relieved they have the answer they have been searching for for nine years.

“She is very poorly, she doesn’t walk or talk and she is tube fed,” her mum added.

“She has poor vision and severe epilepsy which means she doesn’t go to school often.”

At six months old, Ms Smart noticed her daughters head wasn’t growing properly and after a series of tests at Abergavenny's Nevill Hall and Cardiff's University of Wales hospitals failed to make a diagnosis, Ellie's condition worsened.

But in March last year Ellie was given a suggested diagnosis by a doctor at St Mary’s Hospital in Manchester and this was confirmed by a genetic councillor in Cardiff last Friday giving her an official diagnosis of Cask Mutation.

Although this won’t change her condition, Ellie’s diagnosis has also provided peace of mind in other ways for Ms Smart who was concerned the condition may develop in her five year old son Marley. She has been told this is not the case due to its rarity.

Ellie will now continue to take her medication for her epilepsy which she has to take every four hours and continue to take antibiotics and ‘levellers’ to help her chest infection.

“We will continue as she is for now,” Ms Smart said.

“We will go back to Manchester in the next couple of months as we are hoping to have more information.”

Ms Smart is also keen for Ellie to meet others who share the same condition.

“We would love to meet someone else with the condition as it is so rare” she said.