From an Indian parable dated from before 500 BCE:
A group of blind men heard that a strange animal, called an elephant, had been brought to the town, but none of them were aware of its shape and form. Out of curiosity, they said: “We must inspect and know it by touch, of which we are capable.” So, they sought it out, and when they found it they groped about it. The first person, whose hand landed on the trunk, said, “This being is like a thick snake.” For another one whose hand reached its ear, it seemed like a kind of fan. As for another person, whose hand was upon its leg, said, the elephant is a pillar-like a tree-trunk. The blind man who placed his hand upon its side said the elephant “is a wall.” Another who felt its tail, described it as a rope. The last felt its tusk, stating the elephant is that which is hard, smooth, and like a spear.
Would it be more accurately described if a healthy elephant came to a hospital to see specialists today for inspection and palpation? The cardiologist might diagnose bradycardia and a displaced point of maximal impulse. Dermatology might worry about dry skin and diagnose sun damage. ENT might cover their ears at the trumpeting and examine its cavernous sinuses. Ophthalmology would find terrible depth perception. GI might grade its stool. But would diagnosing an elephant with poor depth perception, at risk for melanoma, and bradycardia come close to describing an elephant? Sometimes, each specialty silo sees only its own limited landscape. Like the blind men in the parable, our divided system would see many different “elephants,” not one unified animal.
What if the elephant was sick? Would our siloed specialist system work better on a sick animal? What if the gastroenterologist saw diarrhea and vomiting, the hematologist diagnosed liver injury, and the neurologist saw seizure-like activity? Who is the overall vet or “elephantologist” who pulls it all together and sees an elephant with aflatoxicosis from peanuts? Perhaps no one would put it all together because the diagnosis is uncommon and multi-system and therefore crosses multiple specialties.
Human patients with uncommon and multi-system illnesses can have similar problems getting a diagnosis as our elephant with aflatoxicosis. Rare diseases are notorious for taking years, or even decades, to diagnose. Patients with syndromes like dysautonomia and post-viral syndromes often end up with a long list of diagnoses from different specialties but no unifying diagnosis. Even uncommon autoimmune diseases repeatedly tested on board exams, like Addison’s and myasthenia gravis, often take years to get diagnosed. My dysautonomia from neuropathy took decades to diagnose, and my myasthenia gravis took two years. And much of that time, I was a physician with excellent insurance and access to care. I also had the confidence and persistence to not be dissuaded when it was suggested I was just anxious or out of shape. Once people’s elephants are diagnosed and named, doors open. Doctors no longer groan seeing a patient with a laundry list of complaints but see a person with an uncommon single diagnosis, and the patient then becomes intriguing. I saw this clearly myself in how I was treated by new physicians after my diagnosis. Getting a diagnosis is a transformative event for both patient and doctor alike.
I hear patients in patient groups saying they want a physician to look at all their symptoms and abnormal labs and put them together. Patients want to find their “elephantologist,” but these doctors are as scarce as unicorns. They are stuck in a meeting for not meeting RVU benchmarks and being chastised for having costs beyond what insurance will pay. I don’t blame my colleagues for not being able to be elephantologists or unicorns. I do think most want to help and do care. The insurance-based, fee-for-service, 15-minute visit system simply isn’t possible. Review of outside medical records is only minimally compensated. Long visits are not always appropriately compensated, and some hospital systems and employers do not permit follow-up visits longer than 15 minutes. Time spent researching a possible differential item or consulting peers is uncompensated. Time spent gathering patient data and summarizing for one of the few unicorn, rare disease diagnosing programs is uncompensated. If a doctor wants to get to the bottom of a complex patient’s illness, it may come from their “free time.” That “free time” comes at the expense of family time, sleeping time, or wellness time, so it isn’t free.
As mentioned briefly earlier, there are NIH rare diseases network clinics and a few independent undiagnosed clinics. They are so far and few between that they are inaccessible to the vast majority of the population. Having more doctors that do assessments of uncommon, or truly rare, multi-system illness as their main focus would have multiple benefits. First, PCPs, rheumatologists, neurologists, and others would have fewer “complex” undiagnosed patients in their 15-minute slots. When these patients end up with a too-short slot on these specialists’ schedules, often neither the physician nor the patient ends up happy at the conclusion of the visit. But if patients had an accurate diagnosis and their physicians knew the root of their illness and could treat it effectively, then the medical care costs would go down. The effect on patients of being diagnosed years earlier and having a shorter diagnostic odyssey is impossible to quantify. We need more elephantologists. And fewer silos.
Image credit: Shutterstock.com