Today we raise the medication dose on my young patient. The way you dose this med, you start off with a low dose to assess side effects (can cause diarrhea, nausea, excess saliva and bronchial secretions) so you can add medications for those if needed. So far this has gone well, and he even seems to be having a slight treatment effect in his leg at the appropriate times (the drug kicks in about an hour after taking it, and wears off in 4-5 hours before the next dose). We will really know when we double the dose to the usual dose today - hopefully there will be a more dramatic change which will prove, once and for all, that this is his diagnosis. (This drug doesn't really treat any other disorder). Fingers crossed! I'm hoping we can get his double vision under control at the higher dose, and make some inroads into his fatigue.

Although this isn't really a disease I would wish on anyone, getting the diagnosis confirmed opens the way to many other treatments including some that may be needed for emergency life-saving treatment in a crisis.