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Brave Cookstown woman Aine Owens aims to help others with rare genetic disorders

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Aine Owens from Cookstown

Aine Owens from Cookstown

Aine Owens from Cookstown

A young Co Tyrone woman who lived with a rare genetic disorder for years before being diagnosed is hoping people in a similar situation can take heart from her experience.

Twenty-three-year-old Aine Owens from Cookstown didn't find out she had the extremely rare 18p minus syndrome until she was 16.

The condition can cause a host of problems, including growth deficiencies, speech and language problems, learning difficulties and facial abnormalities.

Aine travelled to Dublin with her mum Teresa and dad Paul to meet the Irish President Michael D Higgins in Aras An Uachtaráin to celebrate Rare Disease Day on the rarest day in the calendar - February 29.

She believes there is only one other person with the same disorder in Northern Ireland.

"Don't give up fighting to find a diagnosis," she said. "There is support out there for you."

The visit to meet President Higgins was arranged by the charity Rare Diseases Ireland, which helps people struggling with various disorders.

Aine was first diagnosed with speech dyspraxia and development delay while she was still at primary school.

"After P7 things went downhill as I acted differently and a lot of people thought I had autism. Instead I had the rare genetic disorder called 18p minus syndrome," she explained.

She said she was diagnosed with the condition at the age of 16 following an MRI scan.

She described being told the news as "a shock but also a relief" because she finally knew what she had.

"So I did a bit of research and I found a charity down south called Rare Diseases Ireland and messaged them," she said. "They are all amazing people."

Aine, who has two older brothers, said she had been bullied at school because of her condition and eventually had to attend a special school in Omagh.

But that hasn't stopped the Cookstown woman from carving out a career.

She currently holds down two jobs - one in a retail premises in Cookstown and another as an assistant youth support worker.

"In one of my jobs I work with a group of young people in the area with learning disabilities and autism. I really enjoy helping others," she said.

"But what I would really love to see is a conference similar to the Rare Disease Ireland event.

"We need to bring more people with rare genetic conditions together from Northern Ireland and the south to share and exchange their experiences, support and learn from each other.

"I know my genetic disorder is rare. I know of two people in the whole of Ireland who have been diagnosed but I know I am not the only one in Northern Ireland with a rare genetic disorder."

She added: "I would love to create more awareness around that and my learning disabilities."

Belfast Telegraph