The mother of an disabled boy recently diagnosed with a rare condition after over a decade of frustration is appealing for better medical treatment of undiagnosed children.
Eleven-year-old Archie Beverley, of Elland, is one of only 28 people worldwide known to suffer from Smith Kingsmore Syndrome, a condition linked to a defection in the genes.
Archie was only diagnosed early this year after a stroke of luck involving random blood tests.
His mother, 37-year-old Patsy O'Shea, is appealing to the medical community to better understand the needs of those without a diagnosis.
“Children like Archie aren’t textbook children and you can’t treat them that way,” she said. “We’ve had a real struggle with some doctors and pediatricians who have found it too easy to write off some of his symptoms.”
Archie, who attends Wood Bank Special School in Luddenden, suffers from a range of issues including global development delay, learning difficulties, sleep issues and low muscle tone.
Because of what Patsy sees as a flawed system, problems with Archie’s bowels were just one of the symptoms mis-treated for seven years until the intervention of a specialist gastro team last year.
“It’s too easy to be blasé just because a child is undiagnosed.
“Those are the kids that need better medical packages because they don’t show the typical signs of what to expect.”
Wednesday was Rare Disease Day, an awareness event that seeks to address issues and educate on matters surrounding rare illnesses, 75% of which affect children and 3.5m across the UK.
Although it is still early days, the diagnosis stands to be a life-changing moment for Archie.
“Waiting for it was very frustrating, overwhelming at times and it begins to take over your life,” Patsy said.
“But as time goes on you go about waiting on answers. You wonder if a diagnosis is ever going to arrive and then it comes out of the blue, just like that.
“It’s coming together but it’s been a long slog, a lot of screaming and shouting.
“Now it’s about trying to make life better for children and families coping with undiagnosed diseases.”