“MYSTERY DIAGNOSIS”

I came upon an interesting program on the Life Network while I was surfing cable channels last month. It caught my attention because of its content and its name,“Mystery Diagnosis.” The program tells the story of people who had medical problems that were of long-standing duration and took many years to diagnose. Over time, their symptoms worsened and their frustration built. Each of these folks was eventually determined to have an extremely rare disorder that eluded the diagnostic capabilities of multiple doctors. From a professional perspective, it was a fascinating show, but also it left me wondering about some doctors.

The people tell their own story and relate their emotions during their ordeal. Friends and family add comments that help define the frustrations these patients felt. In the case of children, the parents narrate the story and express their feelings and share how they were hopeful at times and despondent at others. Occasionally, older children will talk about their condition and express their mental ups and downs.

One aspect of the program that bothered me was it leaves you with an unfavorable impression of physicians. All of these folks had rare, obscure disorders that presented with common symptoms that were thought to be caused by a common problem. These patients went to doctor after doctor, specialist after specialist, and hospital after hospital seeking an answer to their problem while sometimes being told “it was all in their head,” or there was “nothing wrong.” One lady in her mid-thirties was even told she “was just getting old!” These folks had real symptoms that were progressively worsening and knew it, but had trouble getting doctors to listen to them. Every time they received this type of brush-off, it caused anger and distrust with the medical profession. I felt it, too.

Often these folks said the doctor ran tests that were inconclusive; or diagnosed and treated something that improved briefly but later returned. Other doctors hospitalized them, did a diagnostic work up, but found nothing. Referral centers weren’t any better at solving problems and left patients with more questions than they answered. A lot of these patients were left “up in the air” not knowing what to do next.

With each new physician encounter, the patients were hopeful the doctor had the answer, but disappointed when they didn’t come to a conclusion. The tone of the narration was always respectful, but you knew there was concern when it was repeatedly asked “Why did it take so long for Mr. X to be diagnosed?” While they didn’t come right out and say it, the implication was doctors are smug and dismissive and don’t listen. When Dr. A diagnosed XYZ disease, the patient was hopeful. But after a period of treatment, when they got only slightly better or not at all, the patient left Dr. A and went on to Dr. B. When Dr. B failed to come up with the diagnosis they went somewhere else, yet again.

One glaring fault that came through in these scenarios was the seeming lack of follow-up by physicians. If the doctor wasn’t certain of the diagnosis, he would have been right to say “let’s try this approach, and if it’s not right we’ll try something else.” “Let me know if you improve. If not we’ll do some tests.” “If I can’t find out what’s wrong, I’ll send you to Dr. C. We’ll keep after it until we have an answer.” “Call me or come back in a week and we’ll look again.”

After extensive doctor shopping, most of these patients end up researching their symptoms online and find doctors who specialize in the rare disease they think they have. When a diagnosis is finally determined, it usually is some disorder that occurs in one out of a million people, or has only 200 known cases in the U.S. Any primary care doctor could be excused for not diagnosing such rare diseases as Prader-Willi Syndrome. They may have read a paragraph about it in a textbook 30 years ago but have never seen it. But they should not be excused for not believing the patient and dismissing their symptoms as nothing or a normal variant. It’s the doctor’s responsibility to follow up until he can diagnose the problem himself or refer the patient to the proper consultant. It is wrong, however, for the program to imply that all doctors think odd symptoms are anxiety, or they’re not smart enough to recognize some obscure illness. Unfortunately, for some doctors this criticism is warranted.

To doctors I say, if the patient looks sick, he probably really is. If a doctor isn’t capable of recognizing when someone is sick, he needs a refresher course in medical diagnosis. Telling a person nothing is wrong because the tests and scans are all normal is a disservice to the patient. Follow up with him until the problem is resolved. Be involved in his problem with him. Be his advocate. Believe the patient until you are absolutely certain he is malingering or lying. Never tell him he’s “just getting old.” Always give him the benefit of the doubt. Effective communication with patients is the basis for building trust. It’s important to do what you can to reassure them you’ll stay with them until the problem is diagnosed or resolved. A flippant or dismissive comment directed toward a patient is a sure-fire way to completely sever the doctor-patient relationship. This type of behavior was shown over and over by doctors in these vignettes. The stories were fascinating, but the portrayal of many physicians was upsetting.

I’ll continue to watch the show for it’s interesting medical information, but will also hope that doctors will make a better impression than they have up until now. Our professional image is so low it has nowhere to go but up.