How Is CSID Diagnosed?

Most of you with Congenital Sucrase-Isomaltase Deficiency (CSID) began your diagnostic journey in the office of your pediatrician or primary care physician. Primary care physicians may reach a presumptive diagnosis of one of the more common causes of chronic diarrhea, such as toddler’s diarrhea, irritable bowel syndrome, parasites, or intestinal infections. When treatments for these more common conditions do not alleviate the gastrointestinal symptoms, a primary care physician or pediatrician may refer you to a gastroenterologist, a doctor who specializes in digestive dysfunction.

Following a referral, a gastroenterologist performs a routine analysis of your well-being, a physical examination, clinical history, family history, and dietary history. Based on this information, the physician may order tests to determine the exact diagnosis. Often with rare diseases, there is a process of discovery that requires a systematic process of elimination of other more common ailments.