Rare condition for little Ava

Fundraiser for 10-month-old Ava Hale, who is the only person in the UK to be diagnosed with incredibly rare Kleefstra Syndrome

Fundraiser for 10-month-old Ava Hale, who is the only person in the UK to be diagnosed with incredibly rare Kleefstra Syndrome

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Crowds packed out a pub for a fundraiser for 10-month-old-baby who is thought to be the only person in the country to be diagnosed with an extremely rare condition.

Ava Hale, of Merrivale Close, Kettering, is among about 100 people in the world to be diagnosed with Kleefsta sydnrome, an illness which has left her on a 24-hour supply of oxygen.

Despite being less than a year old, she has already had heart surgery on a hole in her heart, has voicebox problems and will require specialist equipment for the rest of her life.

The family put on an event at the Wayfarers Inn, London Road, Kettering, on Friday, July 27, to help raise funds to pay for specialist equipment for Ava, including a £4,000 buggy with oxygen facilites on it, and £1,500 was raised from the night.

Her mum Gemma, 27, said: “It was an amazing night and there was a brilliant turn-out for it.

“She’s only one of about 100 in the world who have been diagnosed with it and we’ve yet to find anyone else in England who has been diagnosed with it.

“A lot of the doctors we’ve seen are obviously new to the disease and are still having to look a lot of it up.”

Ava was finally diagnosed with Kleefstra syndrome eight weeks ago.

Mrs Hale said the disease affects Ava’s mobility, hearing and speech and is a condition she will have to live with for the rest of her life.

She added: “It’s been hard. She’s been severely poorly and had to go to intensive care, so it has been a bit of a struggle since Christmas.

“She has her good weeks and she has her bad weeks but she’s doing okay at the moment.

“She goes to the SureStart centre in Highfeld Road a lot so I’d like to thank them, as well as the community who helped put on Friday night.”

Management at The Wayfarers Inn let the family have the hall for free for the event, which included live music as well as a raffle.

Grandmother Dot Hale helped organise the Friday fundraiser along with friends and family.

She said: “It’s been dreadful for the family. She’s had to go into intensive care and it’s been really tough since she was born, escpecially as the condition is so little known.

“But the community around has really helped, its been friends and family who have helped organise the party.

“Highfields gets some bad publicity but they really banded together to help organise the event.”