Thousands in Scotland living with undiagnosed disease as sufferers warn of symptoms

An estimated 32,000 in Scotland are unknowingly living with with an undiagnosed autoimmune disease that can cause serious consequences if left untreated.

Coeliac disease is a autoimmune condition affecting 1 in 100 people yet only 41% of Scots are medically diagnosed. When people with it eat gluten - a protein found in wheat, barley and rye - their body attacks its own tissues.

Now 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.

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

Gut symptoms and anxiety

Tim Dring, aged 55, from Aberdeen, began experiencing a host of symptoms, including pins and needles in his hands and feet, pain in his gut, stomach and an unsettling brain fog - all of which led to anxiety and social withdrawal.

Yet, his journey was fraught with frustration as he encountered misdiagnosis. His symptoms were initially brushed off with a diagnosis of a pulled ligament, and later labelled with irritable bowel syndrome (IBS). Feeling unheard and neglected, Tim opted to seek a new doctor.

He said: “I was willing and ready to accept that this was life, and I reflect now and get upset about it because it was probably about 12-18 months of suffering.

"The symptoms resulted in me withdrawing from social activities and my friends. I had anxiety about going out and didn’t really understand why. There was a long period of time before I started to pressure doctors and GPs to investigate further.”

Despite a continuous misdiagnosis, Tim didn’t stop fighting for the answers that he needed. Tim took the Coeliac UK online self-assessment that highlighted several symptoms associated with coeliac disease. After moving to a new GP practice, Tim was tested for coeliac disease, revealing his immune reaction was severe. Subsequent testing confirmed the diagnosis.

“I felt like I was a bit of a pest as I had to keep fighting for answers and it really got me down," he added. "I was misdiagnosed – I was told that my pain was due to a pulled ligament and sent for physio; I was told I had IBS. I was told to go on a low FODMAP diet.

"Nothing had a positive effect. Then Covid struck in March 2020 and that magnified the problem. Someone phoning up with symptoms like mine wasn’t a priority.

“While I can say I’m in a much better place now, I do still get a bit of brain fog and a few tingles every now and again. I’m still learning and I’m still on a journey.

"I wish I knew. I could have flicked a switch and got all those years back just by getting a blood test! I don’t want others to have to go through what I did."

Autoimmune Thyroid Disease and Down’s Syndrome

Joshua, 17, from Edinburgh, began experiencing severe stomach problems following a family holiday when he was four.. Born with Down's syndrome and diagnosed with autoimmune thyroid disease (ATD), Joshua's 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."

Genetic link

If a close family member has coeliac disease, the chances of others having the disease increases to 1 in 10, so as a result of Joshua getting diagnosed with coeliac disease, the rest of the family was tested, and Joshua’s dad and younger brother, Joe, both tested positive.

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 theface, so was sent home.”

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/

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