Edinburgh teenager diagnosed with serious illness after suffering severe stomach pains

An Edinburgh teenager with Down's syndrome started experiencing severe stomach pains while on holiday aged just four before being diagnosed with a serious autoimmune disease.

Joshua's existing medical conditions meant being diagnosed with Coeliac disease was more complicated as doctors initially dismissed his symptoms as an infection until his condition worsened.

As the Record reports, an estimated 32,000 people in Scotland are unknowingly living with Coeliac disease which can cause serious consequences if left untreated.

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The condition affects 1 in 100 people yet only 41 per cent of Scots are medically diagnosed. When people with the condition eat gluten - a protein found in wheat, barley and rye - their body attacks its own tissues.

Joshua's mum Dawn explained how she became scared when her son started experiencing severe stomach problems following a family holiday and as Joshua was born with Down's syndrome and diagnosed with autoimmune thyroid disease (ATD) his medical history added layers of complexity to his symptoms.

Despite his mum Dawn's concerns, initial consultations dismissed his symptoms as a transient infection. She said: "It all started when we came back from a family holiday in Ibiza. Joshua's stomach problems were so bad, I was scared to go from A to B!

"I knew that something wasn't right, so I took him to the doctors, but they just said that he'd picked up some kind of infection while we were away.

After visiting the doctor again, Dawn requested a coeliac disease test after doing some research into Joshua's unpleasant symptoms. "With hindsight, I feel like Joshua's Down's syndrome impacted the wait for a diagnosis. I think the doctor may have taken him and his symptoms less seriously as a result," she added.

"It was a relief to know that I was right about the coeliac disease, but also very emotional because I hadn't been listened to."

After Joshua was diagnosed with Coeliac disease, the rest of the family were tested and his dad and younger brother Joe both tested positive as Scots are being urged to know the symptoms of the disease by charity Coeliac UK so they can get tested.

One of the challenges is that symptoms can be different for everyone, ranging from gut issues to neurological complications. And some people are more prone to others.

People with type 1 diabetes are on average six times more likely to have coeliac disease compared with the general population. This increases to 10 times for children, with symptoms such as stomach pain, diarrhoea, nausea and vomiting.

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Those with Down's syndrome are also more likely to have the condition. As symptoms can be so wide ranging, they are often attributed to another cause, or in the case of patients with existing conditions, it can be overlooked.

Joe, 16, wasn't exhibiting symptoms of coeliac disease when he was tested. During Joe's time in primary school, he had an encounter that indicated what his symptoms might have been like without diagnosis.

"I was 'glutened' in Primary 3," he said. "At lunchtime, the dinner lady gave me the same pasta as everyone else. When I questioned this, I was told it was fine and to just eat it - so as any 7-year-old would, I listened. Within the hour I was sick everywhere and green in the face, so was sent home."

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Joe enjoys playing the bagpipes and being an army cadet. He believes he wouldn't have been able to pursue either if he hadn't known about his coeliac disease.

He added: "I'm so glad that I was diagnosed when I was young, I can't imagine having to go through that every day not knowing it was gluten that was making me ill. I was one of the lucky ones to be diagnosed before it got to that."

For more information about Coeliac Awareness Month, visit: https://www.coeliac.org.uk/get-involved/awareness-month-2024/