The Process of Being Diagnosed With a Rare Condition

"The sphincter of Oddi is a muscular valve that controls the flow of digestive juices (bile and pancreatic juice) through ducts from the liver and pancreas into the first part of the small intestine (duodenum). Sphincter of Oddi dysfunction (SOD) describes the situation when the sphincter does not relax at the appropriate time (due to scarring or spasm). The back-up of juices causes episodes of severe abdominal pain."

"Sphincter of Oddi dysfunction (SOD) is a rare clinical entity, often forgotten in the typical differential."

"Normalizing and/or misattributing symptoms. Almost every participant recounted normalizing their symptoms, if they were vague, and particularly if a predominant symptom was fatigue."

Sphincter of Oddi dysfunction (SOD) is a rare gastrointestinal disorder where the muscular valve controlling bile and pancreatic juice flow into the small intestine fails to relax properly due to scarring or spasm, causing severe abdominal pain. The author, recently diagnosed with this condition, notes it is so uncommon that many physicians have not encountered it since medical school. Diagnosis of rare diseases typically involves significant delays between symptom onset and identification. Research identifies key patterns in rare disease diagnosis experiences: patients often normalize vague symptoms, particularly fatigue, and clinicians frequently focus narrowly on individual symptoms rather than recognizing broader patterns indicative of rare conditions.

Read at Psychology Today