Co Tyrone girl 'first in Northern Ireland' to be diagnosed with rare genetic disorder

The family of a seven-year-old girl from Killyman, Co Tyrone say they're holding out hope for a cure after she was diagnosed with a rare genetic disorder.

Sara Bordas Barros is believed to be the only person in Northern Ireland with 4H leukodystrophy.

The condition is degenerative and can either quickly or slowly progress as a child grows.

No more than 600 people in the world are living with the disorder.

Sara's mother, Agnes, said they first became aware there was a problem when they sent Sara to nursery school.

Her playgroup teacher said they were concerned about Sara's balance and thought there might be a problem with her eyesight.

Three years of referrals, scans and genetic tests later and Sara was finally diagnosed.

"Our daughter at the moment has eyesight and balance issues. Eventually, she could get into wheelchair, she could get a problem with swallowing, she could lose her speech, she could get blind and eventually it could come to the worst... which we try not to talk about," Agnes told UTV.

Agnes said she, her husband and Sara live day by day, not knowing when the condition could get worse.

There is no cure, but Agnes is hopeful there will be one created in time to save Sara.

"I'm hoping that a cure will come before we go downhill... I'm really hoping... I'm not saying that's what's keeping me up, but it's my hope. I don't want to accept that we can end this or that we could lose her," said Agnes.

Sara has travelled to the USA and is due to fly to Amsterdam to meet with more genetic experts.

Her parents are determined to fight for a space on clinical trials when they become available.

In the meantime, Agnes is raising awareness of her daughter's condition in the hope she'll help another family who are concerned.

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