Lots of emails to Doctor D ask:
Why hasn't anyone figured out what's wrong with me?
This a common sentiment of patients whose doctors have yet to find a reason why they feel miserable. Patients with mystery symptoms tend to get lots of tests and shuffled to lots of specialists. More people than you might think are in this limbo of an illness without a diagnosis.
This is frustrating for everyone. Patients get irritated with their doctors: "If I just had a smart doctor like the ones on TV I would have been diagnosed by now." Doctors, who like having answers and hate looking foolish, get frustrated with patients and wonder if the weird symptoms are all in your head. We need to all take a collective deep breath.
We all want uncover the mystery diagnosis, but we have to acknowledge an unfortunate possibility:
We sometimes won't find a diagnosis.
There are diseases that are very common and ones that are very uncommon. It also stands to reason that there are diseases that may be so uncommon as to not yet be discovered. Some diseases may be so uncommon as to affect only one human being, which could be you. If this is the case you could never find a “diagnosis” per say, because a diagnosis groups you with other people with the same disease.
There is a point at which we say, "We've done a thorough work-up and found nothing. You may have to live with this." Doctor D hates saying this as much as any doctor, but at sometimes it needs to be said.
What is a disease?Literally disease means dis-(without) ease. If you are visiting doctors because you have miserable symptoms you already know your body is without ease. You don’t need a multi-sylable medical term attached to your suffering to know that you suffer.
When doctors diagnose diseases, we look for particular patterns of symptoms and physical findings that are specific to known illnesses. It feels great for everyone when Doctor D can say with confidence, "You have _____."
But naming your disease doesn't cure anything. Having a diagnosis is useful because we can look at research from others who have had the same disease to know what treatments work and how we can expect the illness to progress. The rarer the disease the less other patients we have to get useful info from. We can just name your disease symptoms after you (John Doe Syndrome). It might feel satisfying to give it a name but it really doesn't help us make you feel better.
The Good News About Mystery IllnessesPeople with mysterious symptoms get a lot of tests. A competent work-up has likely proven you don't have certain dangerous diseases. Doctor D has yet to see a patient with a mystery illness after a good work-up die. (I'm not saying it never happens, but it is exceedingly rare.)
Why? Even though the number of conditions that can cause discomfort are limitless, the mechanisms that can cause your heart to stop are fewer and generally well-known. Your large work-up has probably excluded most of the mechanisms that lead to premature death. A negative work-up can be a good thing.
Doctor D has often reassured frustrated patients about negative studies, "Trust me, you don't want the disease I was looking for."
The other good news: We don't always need a diagnosis to treat your symptoms.
Treatments do two things: postpone death and/or decrease suffering. A thorough work-up makes impending death unlikely, so we are left with easing the suffering. Doctors often treat symptoms even without knowing the underlying disease process. Whatever helps your symptoms and isn’t dangerous is a good treatment—whether it be Tylenol, or nice sunset, or an off-label use of a medicine.
Shifting PerspectiveIt can be liberating to realize that finding a diagnosis is not the be all end all. Lots of patients with mysterious symptoms get run through a gauntlet of tests and doctors and often feel pressure to advance to more uncomfortable and even dangerous testing to find an answer. Doctor D has actually found that patients often find it comforting to not to "have to find an answer."
Sifting the aim of care from finding a diagnosis to learning how to treat and live with your symptoms doesn't mean that we've given up. It just acknowledges that the ultimate goal is not diagnosing diseases, but helping you find ease and comfort.
What do you think? Do you have a mystery illness? Are you a doctor who works up patients with mystery illnesses? What do you think about acknowledging not all diseases will be diagnosed? As always Doctor D loves to hear your stories and perspectives.
Click here to read follow up post: What Is A Proper Work-up?