Good news! Bertrand's karyotype came back normal, 46,XY. His Niemann-Pick, type C1 and C2 testing also came back negative. We're ruling out quite a bit, and we're still missing some more Duke DNA testing as well as the skin biopsy analysis which was sent to the University of Alabama.
With so many conditions ruled out, I am increasingly hopeful that perhaps we'll discover that Bertrand's case is treatable somehow, and that we'll be able to use his banked cord blood to repair any brain damage after all. (We already have the "in" with Dr. Kurtzberg.) I can dream, right?
UPDATE: Dr. Longo just emailed me. "Fibroblasts will [be] sent for multiple lysosomal enzymes today. I will send additional fibroblasts for GSD Type IV. Would like to have an endocrinologist see him to give an opinion on whether this is ACTH resistance or excess and do an ACTH stimulation test. Would wait on Muscle Biopsy for now."
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