At Duke

Here's Bertrand at the Duke medical center. Today, he had a nerve conduction study. Apparently, this consisted of electrocuting him repeatedly, which he did not enjoy at all.

After that, they drew lots of blood. One unusual factor that has always made drawing blood difficult is the fact that he clots almost immediately. In fact, his blood often clots in the tubing connecting to the syringe, which means he needs even more pokes. We're wondering if it's somehow related to the fact that his eyes have yet to shed a single tear--despite the fact that they do seem to produce ample moisture--another one of his strange symptoms.

According to the specialists he saw today, he's anomalous. While he's tested positive for oligosaccharides three times now, he doesn't match all of the symptoms for any of the known lysosomal storage disorders. This isn't necessarily cause for hope. Even if it's not a known lysosomal storage disorder, the fact that his body is accumulating oligosaccharides means that he'll still suffer the same effects.

The specialist he saw today is hypothesizing that it could be a neurotransmitter disorder, which is sometimes caused by a different but related kind of enzyme deficiency that is even rarer than lysosomal storage disorder. If he goes into that territory, he may be one of sixteen cases ever known. It's unclear whether a neurotransmitter disorder would be better or worse than an LSD.

The specialist also seemed to think a mitochondrial disorder more likely than a lysosomal disorder. Mitochondrial disorders involve a different kind of defect in the cellular metabolism, but they exhibit many of the same symptoms as LSD's. We really hope it's not a mitochondrial disorder, because mitochondrial disorders are even worse than LSD's. They can't be treated with bone marrow transplantation, and there isn't even the equivalent of an enzyme replacement therapy.

I'm heading out to Duke after I teach tomorrow, and I'll post more updates once I'm there.