Initially attributing these changes to the stress of lockdown, Joanne’s concern grew when the symptoms persisted for two years. Given her family’s history with gluten intolerance and the presence of the gene predisposing to coeliac disease, Joanne decided to have Isabel tested. The results confirmed that Isabel had coeliac disease, an autoimmune disorder where the immune system reacts abnormally to gluten.
A recent Australian study suggests that many children like Isabel, who have a close relative with coeliac disease, remain undiagnosed. The study, conducted by researchers from the University of Queensland and Wesley Research Institute, tested 202 first-degree relatives of individuals with coeliac disease. The findings revealed that 14% of genetically-at-risk children had undiagnosed coeliac disease, a rate ten times higher than the national average.
Dr. James Daveson, the lead researcher, emphasizes the importance of testing all at-risk children over the age of two. While many associate coeliac disease with bowel symptoms, only about 30% of diagnosed individuals present with these symptoms. Other manifestations include persistent fatigue, difficulty in school, poor dental health, iron deficiency, and impaired growth.
Early diagnosis is crucial to prevent long-term health complications. Coeliac disease can lead to osteoporosis, increased risk of fractures, and in rare cases, small bowel malignancies. The recommended treatment is a strict gluten-free diet, which can alleviate symptoms and prevent complications.
Isabel, now 11, has embraced a gluten-free lifestyle and is gradually feeling better. Her mother Joanne hopes that sharing their story will raise awareness about the importance of early diagnosis and the potential benefits of family screening for coeliac disease.