The biggest concern most people have with medically unexplained symptoms is “Are my doctors missing something?”
In most of medicine, the standard is for patients to seek care when they have symptoms and for their healthcare providers to listen carefully, order tests when needed, and uncover the disease causing the symptom so that appropriate treatments can be started.
Thus when a specific disease can’t be uncovered the options are either: a) something is wrong with the doctors I’m seeing because they can’t figure out this disease, or b) something is wrong with me because I am having symptoms that don’t have a cause that can be seen or measured by modern science. We’ll get to option “b” in later blogs. Regarding option “a”, namely that you have a disease that is being missed by my doctors, it is important to know that this is a very real possibility.
Missed diagnoses occur for several reasons including:
You have a rare disease. Not surprisingly, rare diseases are more difficult to diagnose than common illnesses and may require seeing one or more specialists. The National Institute of Health (NIH) defines a rare disease as one that affects less than 1 in 1500 people. Of note, the NIH recognizes over 5,000 rare diseases. This means that collectively about 10% of the US population (25-30 million Americans) has a rare disease. Thus, while having a specific rare disease is rare, having any rare disease happens is not rare. Unfortunately, the diagnosis of rare diseases is frequently drawn out in our medical system—an arduous and dangerous journey that depends on heroic self-advocacy and is thus aptly termed the diagnostic odyssey. As just one example, people living with lupus take on average 6 years from the onset of symptoms to get a diagnosis.
You have a diagnosable disease but it is too early to get a specific diagnosis. Many illnesses start with “non-specific” symptoms, meaning that the symptom(s) you have could be caused by many different diseases; or “pre-clinical” symptoms, meaning that the symptoms are noticeable but not developed enough to make a specific diagnosis. Doctors know that it sometimes takes time for an illness to declare itself, meaning that serious illnesses will progress until more classic symptoms are seen to allow a diagnosis. As an example from neurology, Parkinson’s disease may start with symptoms of constipation, fatigue, change in sense of smell, insomnia, or mood changes. While these symptoms may be troublesome, they are not enough to make a diagnosis of Parkinson’s because there are many other possible reasons for these symptoms. However, once someone begins to have tremors, slowness of movement, or balance issues, which can happen years after the other symptoms mentioned, the diagnosis of Parkinson’s can be made.
You have a diagnosable disease but haven’t found a doctor who is willing to listen to you. Your sense that you are not being seen or heard is worth paying attention to and is unfortunately a contributing factor to many patients’ diagnostic odyssey. Multiple factors can contribute to this including:
Our healthcare systems frequently undermine doctors' ability to diagnose rare illnesses by discouraging longer visits (and the detailed histories and examinations needed to come to a diagnosis) and making certain tests and referrals more difficult.
Doctors’ communication skills tend to favor efficiency over thoroughness as training (and 15-minute visits) tend to reward a quick diagnosis over a thorough search. This is in fact a pretty general human bias, as demonstrated by the work of Daniel Kahneman and Amos Tversky, that people will generally go with their quick-thinking impressions unless forced to take a more careful, slower (and effortful) approach.
It can be difficult for doctors and other providers to undiagnose or rethink your condition. Again, parts of this are just human nature (no one likes admitting they were wrong), parts are social (it may feel unprofessional to question another doctor’s diagnosis), and the ego or reputation of certain doctors may exaggerate these biases.
A patient’s race, gender, age, mental health diagnoses, and other factors can create biases amongst healthcare providers that can lead to poor communication, worse care, and worse outcomes. Occasionally these reflect conscious prejudices, but more often they reflect unconscious or implicit biases that are more difficult to detect and uproot.
The chances that your medically unexplained symptoms reflect a treatable condition depend in part on how long you have had medically unexplained symptoms and who you have already seen to try to get a diagnosis. If you are just starting to seek care, it appears that approximately 20% of medically unexplained symptoms are found to have a definite medical diagnosis with further investigation. However, if you have already seen multiple experts or are working with a specialist, the chances could be less than 1%.
So how can we put all of this together to maximize your chances of getting the correct diagnosis?
Don’t be afraid to ask to see a specialist or get a second opinion. As noted above, rare illnesses affect 10% of the population, and missed diagnoses occur initially for approximately 20% of people with unexplained symptoms. Teaching hospitals (aka academic or university hospitals) are often good bets for finding doctors with expertise in rare conditions and who are interested in going deeper. There are also national programs that specialize in uncovering rare diseases including the NIH Rare Diseases program, National Organization of Rare Diseases Center of Excellence, the Mayo Clinic, and others.
Do your own research. Although the internet can be a dangerous place filled with misinformation, there is also of plenty reliable information, including through disease-related nonprofits, academic programs, and government websites including the National Institutes of Health and Pubmed, a powerful search engine for peer-reviewed research studies. Medical center libraries and librarians can also be great sources of information. Disease-related online patient forums and in-person support groups can also be great sources of information as well as practical tips.
Be patient, but persistent. Even under the best of circumstances, it can take time to come to a rare or difficult diagnosis. Tests for common diagnoses are often required before tests for rare conditions will be considered or approved. As noted above, sometimes seeing how symptoms change over time or respond to treatments can provide diagnostic clues. However, if you feel that things are at a standstill you may want to touch base with providers or ask for referrals to people able to dig deeper.
Find providers willing to see you and hear your story. If you do not feel you are being seen or heard for any reason it is worth bringing up this concern with your providers and possibly finding new providers. This does not need to be confrontational, for example, “I’m concerned that we are missing something with my fatigue. In particular, I’ve noticed that my walking and balance also seem worse. Would it be possible to look further into this or have me see a neurologist?” Regarding bias, there is some evidence that providers who share your background (e.g. a woman, Black…) may improve communication and satisfaction, although there are many other factors that should be considered as you seek care.
Be willing to accept that you may not get the diagnosis you want. As you are seeing providers, it is worthwhile to listen to what is the message they are trying to convey regarding your unexplained symptoms. In future blogs, we will get into the potential for psychological causes, lifestyle causes, and other contested syndromes (e.g. fibromyalgia) to be the best explanation for your symptoms. At this point, I’ll just state that for people who have reached this point (and done due diligence in searching for a traditional medical diagnosis), sometimes accepting these causes may be the best path forward toward healing.