Lack of awareness about Down Syndrome related arthritis

Irish research has found that the illness affects one in 50 children and early diagnosis and treatment is crucial

The Ó Beaglaoi Family from An Rinn, Co Waterford, parents Pádraig and Cáit, with daughters Líle Céití, Aoileann and Ciana with son Maidhc. Picture: Patrick Browne

A Waterford teenager waited four “scary” years for an arthritis diagnosis found among children with Down syndrome, her parents have said, as they called for urgent investment in better care.

Down syndrome associated arthritis affects one in 50 children, Irish research has found.

Pádraig Ó Beaglaoi, from Kerry and living in An Rinn in Waterford, said his daughter Aoileann, 15, developed new symptoms from 2014 onwards.

“She would have crying outbursts but we wouldn’t know why. She is non-verbal and she’s not able to express the cause of her issues,” he said.

She was losing weight, and at times pulling out so much hair she was “nearly bald”, he recalled.

“We had a pretty tough few years from 2015 to 2018 with hospitalisations, not knowing what was happening, there was lots of stuff being put on the table,” he said.

It was scary and tough back then. 

Spending two weeks in Cork University Hospital, they referred her to a rheumatologist in Children's Health Ireland (CHI) at Crumlin hospital. She was diagnosed there.

“It was great to get a reason and explanation for it,” Mr Ó Beaglaoi said.

Now her arthritis is treated with biologic drugs but Aoileann still faces extra challenges.

“Day to day, all her joints are very stiff, very sore. She finds it very difficult to move, she is able to walk but struggles to walk any significant distance,” he said.

Mr Ó Beaglaoi, an engineer, and his wife Cáit, a teacher, share their daughter’s care.

“We are very keen to raise awareness,” he said. “We’ve found the medical profession aren’t aware of this as an issue.” 

He regularly meets parents struggling with the same delays they faced.

Early treatment crucial 

He pointed out there are “a lot of success stories” but early treatment is crucial.

“There’s lots of gaps — rheumatologists, physios, occupational therapists,” he said.

Aoileann needed an MRI under general anaesthetic for example.

“We spent five years waiting for an MRI, she eventually got it done in 2023.” 

The family highlighted the wait then in the Irish Examiner.

If this arthritis is untreated, he warned "the damage just increases all the time”.

He is a member of online support group ‘Down with Arthritis’ which marked national arthritis week over March and April.

Co-founder Aisling McNiff echoed his calls for an improved paediatric service.

She pointed to research on how common it is — involving Arthritis Ireland, CHI at Crumlin, and Down Syndrome Ireland — to indicate the urgency.

“Long waiting lists of five years to see a paediatric rheumatologist and then long waiting lists for MRI under general anaesthetic adds further delays to getting a diagnosis,” she said.

Bloods and X-rays are unreliable in our cohort of children, an MRI is gold standard for diagnosis. 

She praised the national paediatric rheumatology centre in Crumlin.

“There are three wonderful doctors there and a full multi-disciplinary team. It’s great once you get access,” she said.

“Access is a big issue because of the long waiting lists. The bottom line is that more resources are needed and more education across the board.”