25 September 2012


Our patient had become increasingly socially withdrawn, emotionless, and impulsive. He had started falling with increasing frequency, not even bothering anymore to put out his hands to break his fall. And he had been taken to specialist after specialist, undergoing test after test. But each doctor was stumped as to what disease (or diseases) might be responsible. The patient had been referred to the clinic where I was observing, desperately seeking answers.

I largely watched as a more senior medical student conducted a lengthy and thorough interview and exam. By the end, both of us were leaning towards the same diagnosis: progressive supranuclear palsy. It is a progressive degenerative brain disease, and an insidious one at that. It causes dementia and impairs motor function, slowly paralyzing the muscles involved in gaze, talking, and swallowing, and causing frequent, spectacular falls. There is neither a cure nor an effective treatment (although some therapies are currently in development). Most patients die of complications from it within years. Very few doctors know about the disease or know how to pick up on the disease's subtle signs, often misdiagnosing it as Parkinson's. To be fair, the patient's condition was less advanced when she saw her previous physicians, which would have made the disease harder to recognize then.

The medical student presented to the attending physician, who became even more certain than we were that the patient had progressive supranuclear palsy. It was time to broach the news to the patient and his family. I thought that this would be a devastating moment: learning that you (or your loved one) are afflicted with an incurable, progressive, and tragic disease. In large part, the patient and his family responded as though a burden had been lifted. They had finally gotten a satisfying conclusion to their quest for a diagnosis, and now they could predict what might happen to the patient in the coming years. Above all, they were relieved that something finally explained what was going on: that a known disease was responsible for the befuddling combination of behavioral and motor problems that were increasingly affecting the patient. Within this tiny snapshot of time, the family responded bravely to the news of the diagnosis.

Getting the diagnosis here was a help for the family. Had the correct diagnosis been given earlier, the family could have avoided a lot of hassle, expense, and anxiety.

I'm considering neurology more seriously as a specialty, fully aware that many of the conditions I would be dealing with are largely incurable and untreatable. Where I think I could make a difference is in making the right diagnosis where others might stumble.