Having a chronic illness is never easy, but it is particularly difficult when the disease is a rare one that many doctors have never heard of and that, therefore, they are unlikely to diagnose promptly or correctly.
Take my situation, for instance: I have familial Mediterranean fever (FMF), a hereditary autoinflammatory disease that is characterized by recurrent bouts of fever, abdominal and chest pain, long-term kidney disorders, and various types of inflammation.
FMF is an uncommon disease, with an estimated 100,000 to 500,000 people worldwide affected—at most, fewer than one in 16,000. The rarity of this condition means that many doctors have no experience with it, making diagnosis difficult and thus increasing the suffering of those living with it. This, unfortunately, was my experience, as it has been for many others.
Fortunately, modern technology has allowed the development of various tools that facilitate the diagnosis of rare diseases and, even without such tools, simple changes in doctors’ approach to patients with unusual symptoms would go a long way in improving diagnosis rates for people like me, who, despite the rarity of our conditions, deserve quality medical care as much as anyone else.
People with FMF often report that it takes a long time—sometimes many years—for doctors to properly diagnose the disease. One patient was diagnosed only after more than three years of nearly monthly visits to the emergency room.
One mother of a daughter with FMF reports that, although her daughter began displaying symptoms at two months of age, she was not diagnosed until she was eleven years old. “I’d seen 100 doctors and had 1000 tests,” another patient writes, highlighting the extreme lengths to which some individuals must go to get a correct diagnosis for this condition.
My own diagnosis was also delayed, as I began having fevers in 2009, yet, despite seeing numerous doctors in various cities, was not diagnosed with FMF until 2018. The frequent delays in diagnosing FMF mean that patients often live with debilitating symptoms for many years without knowing the cause of these symptoms or how to properly treat them.
In addition to delayed diagnoses, patients also report frequent misdiagnoses of FMF. For instance, numerous people with FMF have been erroneously diagnosed with appendicitis, with at least one of them actually having their appendix removed. Others have been misdiagnosed with chronic constipation, chronic gastritis, food poisoning, stomach flu, bird flu, rotavirus, irritable bowel syndrome, diverticulitis, endometriosis, and even polio.
One mother of a daughter with FMF reports that doctors stated that her daughter’s fevers were probably caused by a virus that she caught by sucking her thumb.
Another parent recalls: “I took [my daughter] to the paediatrician again and again, but once he told me that she had a respiratory infection, another time a tympanic cavity inflammation (for which she was completely pointlessly operated on at 5 months) and yet another time she apparently had a fever simply because she was teething.”
Another woman with FMF says that her doctor suggested that her fevers and abdominal pain were caused by depression. I myself was misdiagnosed with another autoinflammatory disorder before I received my FMF diagnosis. As with delayed diagnoses, these misdiagnoses can delay effective treatment and thus prolong suffering.
In addition, some patients report that medical practitioners are dismissive of their situation. One patient was accused of being a hypochondriac and laughed at by three different doctors when she told them she thought she might have FMF. Similarly, another patient was told by their doctor that their symptoms were in their head and that they should consult a psychologist. Still another was accused of seeking pain medication because they were “a veteran struggling to adapt to civilian life.” Such dismissiveness and disbelief can greatly compound the distress experienced by patients with FMF.
It goes without saying that none of these situations are acceptable—that nobody, no matter how uncommon their medical condition, should have to endure such ordeals. Moreover, given the number of examples cited above—examples that include only one of the world’s myriad rare diseases—it is clear that such incidents occur frequently enough to warrant prompt ameliorative action.
One promising approach involves the use of technological tools, such as specialized apps designed to identify diseases based on symptoms. One such app, RareMDx, combines AI with human-curated databases to facilitate the diagnosis of over 4,000 rare diseases.
Other similar apps, including RareGuru, Symptomate, and DxGPT, provide physicians and other medical professionals with a wide range of resources to recognize rare conditions, potentially decreasing the delay between symptom onset and diagnosis and thus getting patients the help they need sooner. Training doctors in the use of tools like these would be a valuable addition to continuing medical education, one that would help plug a significant gap in most doctors’ knowledge.
In addition, physicians should be encouraged to admit uncertainty and collaborate with colleagues across specialties when faced with unusual or unexplained symptoms. In such cases, recognizing the limits of one’s own knowledge is a necessary, if often avoided, step in providing accurate care. By consulting with other specialists and considering alternative diagnoses, doctors can reduce the risk of misdiagnosis and ensure that patients receive timely, appropriate treatment.
The fact that medical school curricula focus heavily on common conditions is reasonable, as those are the conditions that doctors encounter most frequently. This focus, however, should not come at the expense of dismissing atypical patients.
While it is unreasonable to expect every physician to be familiar with all of the thousands of rare diseases, it is eminently reasonable to expect them to use the tools at their disposal, including technological aids and colleagues in other specialties, to provide patients like me—patients who may be the first person with a particular disease that their doctor has ever seen—with prompt, quality care. After all, for those seeking medical care, rarity should never mean neglect.