Mystery Diseases (Diagnosing the Undiagnosable)

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 Illnesses

People 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 Perspective

It 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?

Of Course, It's All In Your Head!

A patient asks me:

"Doc, are you saying this is all in my head?"

The assumption behind the question: things in the mind are not real. Doctors also display this unfounded assumption. We just obscure our prejudices by using medical jargon like "supratentorial." (First reader to define Supratentorial and use it in a sentence wins Doctor D's prize of the week!)

Every illness you ever had was "all in your head." Seriously, where else could it have been? You have never felt a symptom, whether it was a broken ankle or a broken heart, that wasn't felt in your mind. Your mind is your consciousness. Every pain, cramp, anxiety, or ache is felt exclusively in the mind. Your mind is not a part of your body. Your body—as you know it—is a part of your mind.

Doctor D, has had a couple brain-dead (literally not figuratively) patients. Trust me, they never complained of anything! They never had any symptoms. They never felt bad. And their bodies didn't survive long without minds.

Many doctors hold to this absurd theory that your body is a separate entity from your mind and physicians should focus solely on the body. But the human mind keeps getting in the way and annoying these stupid doctors. Of course it does! The mind and body are completely interwoven and inseparable.

This crazy idea that the mind shouldn't interfere with the body has spread from stupid doctors and now created a stupid culture. It is tricky to actually figure out what is going on with a person because everybody now denies their mind has anything to do with their symptoms. Lots of patients refuse to answer when Doctor D asks about their feelings about their symptoms or illness. I can understand why. They're worried that Doctor D thinks they are nuts. Having a mind doesn't make you crazy, it's loosing your mind that is crazy!

So Doctor D has some ideas for how MDs and patients can overcome our anti-mind biases and improve doctor-patient relationships:

• First, doctors and patients both need to acknowledge that all symptoms are real. If you feel it in your mind then it is real—period. We don't say that happiness is "imaginary" because it is a mental state. We shouldn't say that any discomfort is imaginary. Fibromyalgia and panic attacks are just as real as pneumonia and broken bones.

• Second, doctors and patients both need to acknowledge that the mind is real and it matters. I know this sound obvious, but some doctors still think only Psychiatrists should pay any attention to patients' minds. No matter what the disease, ignoring the person to focus solely on the body will lead to disaster after disaster in medicine. Patients also need to be willing to discuss their mental attitudes and recognize that the mind plays a role in illness and healing.

• Finally, we need to understand that different symptoms need different treatments. Not every symptom needs a big work-up or a strong medicine. It is my job to help people distinguish dangerous symptoms from ones that are not. Shortness of breath that starts when your girlfriend breaks up with you merits a different work-up than shortness of breath with unilateral leg swelling and a low pulse ox. Both are real problems, but not the same problem. Understanding your mental and emotional experience of your symptoms helps me better diagnose you and avoid giving you treatments or work-ups that could cause you harm. In order to successfully negotiate these interactions a patient must trust that the doctor has taken the first and second step and isn't assuming they are crazy.

What do you think? Does it bother you when your doctor asks about your mental state when you report physical symptoms? Or does your doctor seem to be biased against the mind and imply you are crazy if you bring up your feelings? Do you think that these 3 steps can improve doctor-patient communication? Doctor D would love to hear your thoughts!

Is The Patient Crazy—Or The Doctor? (Friday Links)

Doctor D found a great blog by a patient with lots of physical maladies who used to be reporter for the Associated Press. Now she is "Sick Momma" and blogs on her life as a chronically ill mother and wife. As D was enjoying her blog and came across this post about some conditions he'd never heard of.

Apparently Sick Momma believes that many doctors suffer from a mental disorder which causes us to attribute symptoms we don't understand to a patient's mental state. Whatever!

Patients expressing unfamiliar complaints to their physicians often induce the "It's All In Your Head" (AIYH) or the "That's Impossible" response in doctors suffering from these behavioral problems and personality disorders.

Physicians fixated upon the metaphysical belief system of "If we don't know about it, then it doesn't exist" are suffering from a mental defect or psychological condition known as "Doctors with Unexplained Medical Beliefs": D.U.M.B.

Excuse me? I'm the doctor, so I'll decide what is a disorder and what isn't!

And I've never heard of these "behavioral disorders," which leads me to suspect they don't exist! Since I have no idea what put these crazy ideas in Sick Momma's mind, I shall diagnose her as depressed and put her on Prozac. I shall continue to add psychoactive medications until she learns not to challenge my god-complex!

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Actually this is an interesting problem: What should be done about symptoms that make no sense? Lots of patients and doctors end up these situations.

The doc is thinking, "This doesn't sound like any disease I know about. All these symptoms are subjective sensations. Maybe it all is in this patient's head?"

The patient is thinking, "This doctor doesn't know what is causing my symptoms! What an ignorant doctor! If my doctor has never heard about this it must be something rare and horrible!"

It is a tricky impasse. Each can't help but have these impressions sometimes. We all want to prove we aren't ignorant or crazy, but then again we all want to be agreeable. Often these situations end up with either unnecessary antidepressants, unnecessary testing, or both.

We need better ways of discussing strange symptoms. Hence, in next week's reader question Doctor D shall provide some answers! (or perhaps some humble suggestions)

Until then, what do you think? Has a doctor ever told you your symptoms were all in your head? Have any of you healthcare providers ever had a patient who had nutty symptoms? Doctor D would love to hear your stories!