Puzzles and Nightmares

We saw Dr. Longo today. Dr. Longo was intelligent, engaging and professional. He was puzzled by Bertrand's presentation. He couldn't offer any immediate answers, and he was able to rule some lysosomal storage disorders less likely based on his appearance. He ordered a battery of tests and re-tests.

When pressed, his prognosis was quite grim. Most devastating was that he didn't seem to believe that cord blood or bone marrow would be a good option, given the outward indications that brain damage had already occurred. On the other hand, he did mention the possibility of enzyme therapy augmented by "chaperone therapy," in which a chaperon molecule would be used to improve the half-life of externally injected enzymes and to possibly allow the enzyme to cross into the brain.

Immediately after the meeting, Dr. Kurtzberg at Duke told us that his MRI from 8 months was not normal, as had been previously assumed and that her team could

"see changes in the periventricular and subcortical areas that could be
consistant with a mucopolysaccharide disorder or a leukodystrophy"

Needless to say, we'd like to fly Bertrand to Duke ASAP. Too much time has already been lost. We might get the same answer there--that we're too late--but we have to try.