Almost done

We're waiting for our last appointment, with Dr. Kurtzberg.

Bertrand had his ophthalmology visit this morning. We were able to balance Bertrand on the razor's edge between asleep and awake for almost an hour, which means he finally had a eye exam without his movement disorder interfering. She was able to peer deep into his retinas for a sustained period.

The good news: the "cherry red spots" common in many lysosomal storage disorders were definitely not there. However, the optic nerve showed signs of "going pale." She said it was by no means severe, but that it wasn't exactly the color she expects to see in a healthy eye at his age. She also saw a cloudier reflection in his retina than she would have liked. She recommended an electroretinogram if he begins to exhibit vision problems.

The "graying" of the optic nerve had her concerned that he could be in the early stages of optic nerve atrophy, a condition common in some lysosomal storage disorders and some leukodystrophies.