Mystery Cases, Mystery Medicine Part 1

Here’s how mystery cases typically present: Doctor, my kid has a fever. How’s he acting? Fine, playing as usual. But he has this fever.

If it were an adult patient, maybe it starts with: Doctor, I’ve been feeling a little tired recently. I just don’t have the energy I used to have.

Mystery cases don’t begin with a bizarre mixture of ankle pain, ringing in the ears, hair loss, and loss of feeling in the right thumb. And did I mention the canoe trip up the Ximim-Ximim River? The trip where you had to drink whatever water was at hand?

So mystery cases don’t start as mysteries, they just become mysteries over time. Usually.

This time is very different, and I will try to chronicle the case as it unfolds.

I received a call from a man who told me that his son had a stomach ache, and he wanted to come to see me.

The boy of 11 had severe abdominal pain for 8 months. Including last Spring, he’s missed a total of about 2 months of school. He has had some blood tests (don’t know what yet) and had an endoscopy (unclear as to which end, but I’d guess that somebody looked at his stomach with a TV camera to make sure he didn’t have an ulcer. If they got to an endoscopy, I have to assume they did some other imaging too, but I don’t know what. The father said that he was told everything is normal. He was advised to wait and see. He was recommended to me, but I’m not sure exactly by whom. Looked me up online, and got the impression that I wasn’t a ‘wait and see’ kind of doctor.

I am, in fact, often a ‘wait and see’ kind of doctor. But not when this kid’s in pain. This was going to take time, and if there were something that smart and perhaps more expert doctors than myself didn’t see or connect, it was not going to be obvious. I was booked solid, so I told him to meet me in the parking lot on Sunday, and I would open the building and open my office for him so we could have at least a couple of uninterrupted hours.

Here’s a mystery case from the first contact. It has already unfolded as a mystery. I think that might be tougher, actually. I’ll have to look through every test that was done and guess what other doctors were trying to look for or rule out. So there will be a lot of homework.

In this case, a father found me on his own. Sometimes I get referrals from other local doctors with difficult cases.

I am bothered most by a child in pain. Perhaps, as doctors are notorious for undertreating pain (especially in children and the elderly), this is really all about pain control somehow. Maybe it’s just that his previous doctors didn’t spend the time to get the whole story, thus missing some essential clue. I’m worried that I just won’t deliver a helpful answer, meaning one that will help the child.

Mystery cases only become mysteries when what you’re doing isn’t working, when what the patient’s disease is doing doesn’t fit with your expectations.

Sometimes, my job is to make a diagnosis. With a known diagnosis, so the theory goes, a known treatment can be applied for a known expected result. I say theory because there are plenty of diagnoses for which there are no effective treatments, so getting to the diagnosis is at best an academic exercise and at worst is costly and unpleasant. A good example is the common cold. There really aren’t good treatments for this basically benign disease. There are expensive exotic antiviral medications that might work if given early in the course of the disease, providing the cold is due, for example, to adenovirus and not rhinovirus. To determine this, one would have to have a nice sinus rinse (I don’t recommend it) at the first sign of a sniffle. This proud sample would have to be whisked off to a lab which has the capability of Polymerase Chain Reaction DNA amplification and analysis, and is willing to put aside the Ebola they’re working on so you can save half a box of tissues.

So I really look upon my job as making people better. Sometimes it’s through a diagnosis. Sometimes it’s just making them feel better.

Mystery cases, then, are more than just cases without a clear diagnosis. Every kid with a runny nose could be….

Maybe I should call this Dr. Wolffe’s First Law: Never ask your doctor, ‘What could it be?’ Yet that is one way I can approach a mystery case. As the doctor mixes in each new piece of information, many possibilities get ruled out and a few remain. Eventually, the doctor must make a decision. What’s possible? What’s likely? What fits best? Which diagnosis is the most important? Here’s an example. A kid is coughing, so much that he’s having a hard time getting a breath. Maybe it’s not asthma, and a steroid medicine won’t help him. In fact, he may have some other symptoms that don’t fit with asthma. But if it is asthma, and he doesn’t get the steroid medicine, he could be in the Intensive Care Unit in a matter of hours. If he gets the steroids, he could go to school tomorrow. It’s conceivable that I could choose to treat a diagnosis that is not the most likely, but is the most dangerous if I don’t treat it.

Tomorrow is Sunday, and I’m seeing this child and his family for the first time. The only thing I know for sure is that it is a mystery case.