Killyman mother holds hope for daughter with rare disease

THE mother of a seven-year-old Tyrone girl with a rare, life-limiting disease has said that whilst much-needed treatment won’t cure the illness, it will drastically improve her child’s quality of life.

Agnes Bordas’s daughter, Sara, has 4H Leukodystrophy, a rare degenerative disease that affects the nervous system and means she will slowly lose the ability to walk, talk, hear, eat or do anything for herself.

Whilst the disease is believed to be similar to ‘Vanishing White Matter disease’, there is currently no cure.

“Diagnosing it was a long process,” Mrs Bordas, from Killyman explained.

“In 2020, when Sara started playgroup, her teacher contacted us with concerns relating to her eyesight and balance.

“Following an MRI scan in early 2021, we learnt that Sara was suffering with ataxia, a term used for a group of disorders that affect co-ordination, speech and balance.”

Mrs Bordas told how it had taken from April 2021 until July 2023 before Sara was finally diagnosed with 4h Leukodystrophy.

The condition has since caused Sara’s eyesight to deteriorate rapidly and has had a serious impact on her mobility.

Mrs Bordas continued, “Sara will never be able to drive and is now registered with the Royal National Institute of Blind People as she has cerebral visual impairment.

“Even with glasses, her eyesight cannot be 100 per-cent corrected and is constantly getting worse.

“She has already lost half her sight, and without glasses she cannot see and would be considered blind.”

Mrs Bordas describes the disease as ‘rare and very cruel’ and says that as far as she is aware, Sara is the only person in the North to have been diagnosed with it – with only five people in the whole of the UK also suffering from 4H Leukodystrophy.

She explained that, “Treatment won’t cure the disease but it will improve Sara’s quality of life.

“Since her diagnosis we have connected with the Yaya Foundation in America who do incredible work in providing funding for research.

“As little is known about the disease, they are still mapping things out and collecting as much information as they can so they have a better chance of finding a cure, so that’s the only hope we have really.”

The Yaya Foundation is dedicated to finding treatments and a cure for 4H Leukodystrophy by funding and connecting critical research efforts and to providing education, support and advocacy for children and families living with 4H Leukodystrophy.

Their mission is to fight for people and families affected by 4H Leukodystrophy by accelerating the discovery of therapies and providing educational and emotional support to affected families.

Mrs Bordas concluded, “There isn’t much help available in smaller towns and areas alike. However, we recently heard that a clinical trial is expected to take place soon in the USA, so we’re hoping Sara is eligible for it.

“If it doesn’t fix the problem, it could at least delay it.

“That would mean the world to us.”

A GoFundMe page has been set up by Sara’s teacher to help support Sara and her family as they continue on their journey to find suitable treatment for the disease.

If you would like to contribute, you can search ‘GoFund Me, Abbie Patterson, Support a Family’ for more information.