According to Dr. Longo:
The prolactin is increased to 18.3 (normal for a child his age is up to 10.1): this is likely to reflect partial deficiency of dopamine, likely secondary to his primary problem. I would proceed with the spinal tap to measure neurotransmitter metabolites. If low, they can guide therapy to improve Bertrand's symptoms.
Lysosomal enzymes were sent to Baylor Houston (not to Dallas where Dr. Schiffman is). They will take another two weeks. If they are normal, we might consider a skin biopsy: some enzymes are not expressed in blood cells and require skin fibroblast.
[...] Your child will need sedation for the tap. Would do it when we do the skin biopsy and I would wait first on the results of the pending tests. Would plan to do it first week of April.
We all know how well Bertrand does with sedation. :-P He needs general anesthesia to stop his involuntary movements--sedation does NOT work. So, the tap may have to wait until he is under for the MRI.
ReplyDeleteHannah had to do the skin biopsy fibroblast because her blood test came back inconclusive for Gaucher's Disease (go figure!). Just an FYI -- Baylor Houston and Texas Children's Hospital are the same group (TCH is the children's hospital for Baylor!).
ReplyDeleteThey want to sedate Hannah for an ABR hearing test, but are also going to wait until she has to have an MRI or some other procedure requiring sedation because of problems with Gaucher 2/3 kids and sedation.