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?