The author, a senior citizen with numerous health conditions, recently received a rare diagnosis: Sphincter of Oddi dysfunction (SOD). This condition, where a digestive valve fails to relax, causes severe abdominal pain and is often unfamiliar to doctors. While the author was diagnosed quickly, many rare disease patients endure long delays, facing challenges like normalizing their symptoms, clinicians particularizing issues, and needing to assert their self-knowledge. Diagnoses often rely on specific circumstances and physician collaboration. Living with a rare disease can involve prolonged diagnostic periods, limited or expensive treatments, and the need to travel for care. To cope, the author recommends building a comprehensive care team and finding a supportive community.
I have a list of medical conditions unusually long for someone my age. Not that I’m young—in February I officially became a senior citizen—but I still think if someone glanced at this list they’d think this person who owned all these diseases was at least 20 years older.
Over the Christmas and New Year’s holiday, I added my first rare condition—the one that when I mention it to a doctor, they say, I haven’t heard of that since medical school. This diagnosis is called sphincter of Oddi dysfunction. According to the International Foundation for Gastrointestinal Disorders, “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.”
A book on the condition states, “Sphincter of Oddi dysfunction (SOD) is a rare clinical entity, often forgotten in the typical differential.”
I was fortunate and was diagnosed quickly. From what I’ve been reading, individuals with rare diseases often experience much longer delays from when they first notice symptoms to when they receive a diagnosis.
There is a process to a patient being diagnosed with a rare condition and then collaborating with their physician, if they are fortunate enough to have that opporunity. One recent qualitative study identified four themes that described the experiences of participants with a rare disease as they sought a diagnosis
1. Normalizing and/or misattributing symptoms. Almost every participant recounted normalizing their symptoms, if they were vague, and particularly if a predominant symptom was fatigue.
2. Particularizing by clinicians. Many participants reported that when they did go to see a clinician, the clinician often focused on the immediate symptom and framed their diagnosis around the proximate organ system. This process, known as particularizing, resulted in a “double discounting” of the impact and seriousness of their symptoms.
3. Asserting patients’ self-knowledge. For most participants, the journey to diagnosis was marked by encounters with clinicians who had arrived at a (mis)diagnosis or had no expectation of a definitive diagnosis. The management of uncertainty often came to involve a contestation with a clinician in which the patient asserted the evidence of their own bodies.
4. Working together through the diagnosable moment. The point at which the constellation of symptoms signaled the need for reassessment and possible consideration of a rare disease varied greatly among participants. And, as some reflected, it relied on being in the right place at the right time when symptoms of their rare disease were coalescing.
There doesn’t seem to be a trigger for these SOD episodes of pain due to the valve spasming. The spasms seem to be completely random. SOD is supposed to be more common in people who have had surgical removal of their gallbladder. My gallbladder was taken out in 2001. You would think there’d be a statute of limitations or something like that.
The couple of times I’ve been admitted to the hospital, the treatment has been the same—NPO, or nothing by mouth for a day or two to let my stomach rest and the inflammation subside. Then a clear liquid diet for another day or two, then finally, a reintroduction to real food. One accepted form of treatment, according to the International Foundation for Gastrointestinal Disorders, “involves cutting the muscular sphincter (sphincterotomy) to remove any stones or to relieve any scarring or spasm of the sphincter.”
What are the realities of living with a rare condition? It may take from months to years to get an accurate diagnosis. There may not be an evidence-based treatment available, or the cost may be prohibitive. Depending on where you live (I’m fortunate to live close to one of the largest cities in the country), you may have to travel to obtain the best treatment.
Two things you can do to ease the sense of isolation that often comes with such a diagnosis are to put together a comprehensive care team, one that you feel comfortable communicating with, and to find a supportive community with whom you can share your experiences, especially when things get tough. There is strength in numbers.
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