Doorway diagnosis, but to what end?

Our clinic recently saw an 18-year-old man who had had seizures for most of his life. It seems that they had been well-controlled on a three-times-a-day seizure medication, but his mother had recently tapered it off, and his seizures resumed and did not stop even when she restarted it. One of my Indonesian physician colleagues asked me to join him in the examining room.

The patient had a peculiar facial feature: crowded, shiny papules scattered across his nose and cheeks, as well as some larger, fleshier patches on his forehead. There was another on his lower back. And there was a pale, depigmented patch of skin on his belly. All of these had been there since early childhood.

From this telltale skin features plus his seizure history, it was all but certain that he had a genetic disease called tuberous sclerosis. Most cases arise spontaneously, and indeed there was none in his family, but because of dominant inheritance, each of the patient's own future children will have a 50% chance of inheriting it.

We explained this to him and his mother. She told us she had taken him to specialists in the city since he was little and had never gotten any kind of diagnosis, only a great many expensive and unhelpful tests and therapies. She said the family had sold everything it owned to pay for these trips and consultations.

Though it was gratifying to make that interesting diagnosis in this low-resource setting, the intellectual victory was Pyrrhic. The patient had been hoping for a cure for his seizures and skin problems, and there is no cure for tuberous sclerosis. Still, there's a lot that can be done. If he were lucky enough to be born in the developed world and possessed of good health insurance--or if he were the son of someone very, very rich here--he could have the lesions lasered off, which our textbooks informed us can give excellent cosmetic results. He could consult an experienced pediatric neurosurgeon about possibly removing the growths in his brain which are probably causing his seizures. He could see an eye specialist as well as receive the special education that many TS patients need. He could get a session of genetic counseling, too. With reliable Internet access, he could meet other TS patients online and get a little psychological support.

He has access to none of the above. In fact, he dropped out of school as a child because of his seizures. He is unemployed. His mother told us very frankly that she doesn't think any woman would marry him.  The patient looked miserable to hear all this.

One of my American physician colleagues angrily pointed out to me later that it wouldn't be all that big a deal to at least get the boy's facial lesions lasered off--that alone would make a tremendous difference in his life. That is, it wouldn't be a very big deal if he were in a developed country that allowed for such things.  As it is, though, what we had to offer were adjustments to his seizure medications and a suggestion to see a neurosurgeon who is hundreds of thousands of rupiahs' worth of travel from here.

I'm left wondering what good this diagnosis will be to him and his family. Is there ever a time when one might as well not know?

Follow-up: Patient with infected stone

On October 18 I wrote about a very sick patient with an obstructing, infected kidney stone who underwent a dramatic transfer via boat to the nearest hospital with urologic capability. I will report what we learned about happened next. The patient underwent ultrasound there by the urologist, who noted that the kidney was indeed obstructed but who could not see a stone. He decided his involvement was no longer needed. The patient was begun on dialysis.

We would love to be able to put in stents here in our clinic. What does that involve? Might it be possible in a low-resource setting like ours, if were were able to get good equipment?

Some of the reasons why it's hard to treat TB in rural areas

Here at our clinic in rural Indonesia, we send an ambulance out with doctors and nurses twice a week to run mobile clinics in remote villages. This morning, one of my fellow American doctors told me with frustration that many of the patients she saw yesterday clearly had TB, but that she wasn't able to prescribe DOTS ("directly observed treatment short course," for tuberculosis) because there is no DOTS worker in that village.

Turns out it isn't quite that simple. That village has had DOTS workers in the past, but there have been bad logistical barriers to them doing their jobs. For one thing, the roads to that village are bad at the best of times, and sometimes well-nigh impassable. For another, that village isn't covered by cell phone service, so our clinic's DOTS coordinator can't easily communicate with them. And many of the villagers leave for weeks at a time to work on palm oil plantations, where they are out of reach of even the most dedicated local DOTS worker.

Lack of infrastructure is largely to blame here. But it also seems to me to be a clear example of how environmental devastation (in this case, the clearing of rainforest for palm plantations) can erode public health.

The road to a village in rural Kalimantan, Indonesia.

One of the bridges along the way.

A middle-aged man with flank pain

A moderately obese middle-aged man with a history of treatment for kidney stones presented to our Indonesian village clinic with a history of severe left-sided flank pain for several days. He was febrile, and writhing with what appeared to be classic renal colic. Though we didn't detect blood in his urine, given his history and presentation, we still suspected he had developed another stone. Given the fever, we also wondered if the kidney was infected (pyelonephritis). More worrisome still was the possibility that he had both an infected kidney and an obstructing stone. That's a surgical emergency and beyond our capacity to care for at the clinic.

We began aggressive fluids, antibiotics, and antiemetics, and gave him the pain meds we have--Tramadol, paracetamol (Tylenol), and ibuprofen. Then we took a look at his kidneys with the portable ultrasound, hoping it would help determine whether we needed to worry about obstruction or whether this was just pyelo. The news was grim. The left kidney showed clear evidence of blockage in the form of hydronephrosis, while the right kidney looked normal. It looked like he did have pyelo and an obstructing stone. We discussed transfer options with the family.

They happened to be relatively wealthy, and they decided to take him to the city where he'd been treated for stones before. The five-hour speedboat ride was arranged to take place the following morning. We were worried about the delay, but it appeared to be the soonest they could arrange for.

Just after midnight, my colleagues and I were called to his bedside. He had become tachycardic, hypotensive in the 70s, and delirious. He had developed snoring respirations as well, though his lungs didn't sound fluid-overloaded. In short, he had developed septic shock, and his life was in immediate danger.

We stepped up our supportive care, but were now faced with several hard decisions. Do we attempt to get this patient to the city sooner than his scheduled 7 AM departure? Does the family have the money to make this happen? Is he stable enough to ride in a bouncing speedboat for hours on end? What about a plane flight? The planes that leave the nearest airport (about two hours away by car) don't have a first-class section, and the aisles are only two seats wide--that's not enough to lie down across a row of seats. In any case, it was hard to imagine putting this man into a wheelchair, let alone manually lifting that chair up the steep flight of stairs from the tarmac into the airplane cabin. And once he finally arrives at the hospital, is there a urologist there and an ICU bed?

Worst of all, if his breathing deteriorated, should we place a breathing tube? This is no small matter even in the highest-resource setting, because once you place a breathing tube you are committed to "bagging" the patient by hand, giving breaths, until he is connected to a respirator. Giving breaths manually is far from ideal--it is much too easy to give them too fast, too slow, or at the wrong volume. There are no respirators here, nor anywhere nearby.

Faced with these problems, the family swiftly chartered a boat to leave at 4 AM. They expected to be treated there by the same urologist he'd seen in the past. As we discussed treatment options, they told us they were prepared for the worst, but asked us to give "the best care" in the meantime.

What is the best care in this instance? Does it include placing a breathing tube if he goes into respiratory failure? That would generally be the right choice in a high-resource setting in a previously relatively healthy man like this. But here? Is it the best care to intubate someone out in a village, with no X-ray to confirm correct placement, no continuous monitoring available, no respirator to regulate the depth and volume of breaths? What if someone overinflates a lung during the journey and it collapses? What about the lack of easily-titrated sedative and pain medications to keep the patient comfortable? And, given that we are trying to save both lives and livelihoods out here (a trip to the city can completely ruin a family's finances), are we sending these people on a futile errand? Sometimes our job here is to advise against escalating care.

In this case, the family had the means to travel. And we were spared the intubation decision, as the patient's blood pressure improved with increased fluids and his breathing didn't worsen. Soon he and his family had sped away in the clinic's small ambulance, headed for the docks, an Indonesian doctor at his side with a bag full of fluid bottles and extra medications. And a bag to provide temporary breaths, just in case. We wait to hear how he did.

On low-resource medicine in Indonesia & elsewhere: Much to admire.

Greetings from rural Borneo, Indonesia. Indonesians call their portion of this magnificent island Kalimantan, and it is both richly endowed and gravely endangered. Until recently the island was covered in rainforest; since the 1980s, it has been so heavily logged that only a fraction of the original forest remains. Illegal logging, fires, and the clearing of forests for palm-oil plantations are among the reasons why the ecosystem here is being devastated. Through flooding, drought, and changes in disease patterns, hat has led to adverse health consequences for many people here.

I'm in Kalimantan with an organization that provides health care for people living amongst this destruction. Since I'm not writing for them in an official capacity, I will withhold identifying details about them, as I wouldn't wish to bring even the possibility of unwanted publicity through anyone taking offense at what I write.

Some Indonesian readers may be offended, for example, at the term "low-resource medicine." I hasten to reassure them that no slur is intended. On the contrary, I am here because I admire this kind of medical practice. At its best, low-resource medicine has the capacity to surpass medicine as it is practiced in developing countries, in terms of wise stewardship of resources and of providing patient care that is both medically effective and cost-effective. I greatly admire the practitioners of low-resource medicine and of all that they do for their patients, and I firmly believe that medical practitioners in developed nations like the United States have much to learn from their colleagues who work in low-resource settings.

It has often been remarked upon, for example, that physicians who do lack access to a near-infinite array of tests and studies develop sharper physical examination skills and may well grasp a patient's clinical situation than their American colleagues would. And few would dispute that medical care in the United States is becoming unsustainably expensive even as it still doesn't reach as many people as it should. It makes no sense that we spend vast resources pursuing treatments that might give people a few weeks' more life, but that many people with hypertension remain undertreated. It is as if we Americans continue to pour into some glasses while other glasses remain empty--and we're running out of water. That policy isn't reasonable and it isn't fair. Practitioners in lower-resource settings, on the other hand, have experience in making sure that the largest number of people get good, sensible, and sustainable medical care, and I want to learn more about how they do it.

Our organization runs a village medical clinic in a converted house. Indonesian physicians fresh out of medical school spend a year with us doing something akin to a family practice internship; they see patients, then present cases to volunteer physicians from the United States. Then we work through what to do and the Indonesian doctors put a plan into practice alongside the clinic's trained nurses. There is much that the clinic can't do, such as surgery in an aseptic environment; the nearest hospitals are hours away by car, plane, and/or boat, and transfer is frequently not an option. Still, there are a great many tools in our toolbox, including a good array of medications, an ultrasound machine, microscopy, and IV capabilities. It is striking how much we can do from our little house.

I'll post about some of the cases we've seen.