While Bertrand's biotinidase and lysosomal tests are still out, his copper (Cu) test result came in. Interestingly enough, his copper is low at 61. Normal range for copper is 90-190.
Could this mean some form of Niemann-Pick disease? We've googled around and found that NP is associated with copper, but nowhere says whether that means it is high or low.
UPDATE: According to Dr. Longo, "With ceruloplasmin being normal, I am not sure it [copper supplementation] would help. A low ceruloplasmin would have told me what he has. Would just repeat it for now. If still low (meaning the result is real and not due to a fluke), then would consider giving him copper histidinate."
I'm going to ask someone I know from the Niemann Pick Foundation to come over and read this. She has been SO instrumental in helping me with answers and support, even when we found out it wasn't Niemann Pick for Hannah
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