‘It felt like just another digestive trouble’: The rare diagnosis parents never expected

LRBA deficiency, a rare genetic disorder affecting 1 in 25,000 people, disrupts the immune system’s regulation. Mutations in the LRBA gene lead to autoimmunity, recurrent infections, and growth issues in children. A 3-year-old boy with LRBA deficiency experienced persistent diarrhea and malnutrition, but after proper diagnosis and treatment, his condition improved significantly, enabling him to walk and gain weight.