Ava, 12, who has Down syndrome, had undiagnosed juvenile arthritis, despite visiting a succession of specialists over a three-and-a-half-year period.
Catherine, from Donoughmore, Co Cork, said the common consensus among medics was that the problem lay with Ava’s hips.
“I did mention arthritis but I was dismissed because they couldn’t see beyond the Down syndrome,” she said.
“It was a tough time. We had to carry her up and down the stairs. Our request for a wheelchair was refused. The physiotherapist said she had stopped walking because she had got into the habit of not walking.”
Ava’s saving grace was a notice posted by Down Syndrome Cork on its website advertising a study at UCD School of Medicine in partnership with clinicians in Our Lady’s Children’s Hospital, Crumlin. Her mother enrolled her immediately.
A four-year project, the first of its kind in the world, it has found that one in 50 children with Down syndrome has juvenile arthritis, more than twice the previous estimated.
Dr Charlene Foley, who undertook the research, said the finding should lead to more timely diagnosis of arthritis in children with Down syndrome, ultimately leading to better outcomes.
Ava is a case in point. The diagnosis led to fluid being drained from her knee; a procedure to straighten her leg; and steroid injections into her joints. “She’s a different child altogether. We haven’t looked back since she was diagnosed in 2013,” said Catherine.
“As a doctor first and foremost, the most important outcome of this research is that it gives children a better quality of life,” said Dr Foley.
Down Syndrome Ireland clinical research nurse Fiona McGrane said Ava’s story is unfortunately not an isolated one.
“Children like Ava may be misdiagnosed or suffer due to a delayed diagnosis because of a lack of awareness of Down’s arthritis and other conditions common to children with Down syndrome. For this reason, we’re calling on the Government to fund further nurse specialist posts around the country,” she said.
Dr Foley said further research will now take place with a view to defining what drives the disease in children with Down syndrome.
“We will be looking at the genetics and the immunology behind it and the joints. We are hoping to have it finished in six months,” she said.
John Church, chief executive of Arthritis Ireland, said Dr Foley’s research “adds significantly to our knowledge about the disease”.
Children with Down’s arthritis frequently present with a polyarticular arthritis — five or more joints affected. Some 550 children were screened for this study, with 120 more set to be screened in the follow-up research.