I am very sorry that you (and I) were not kept in the loop about results so far on Koda. I had assumed, since I was in Spain and now am in France, that the folks in the lab would have contacted you. When I wrote to Dr. Giger, who is now also traveling, he responded that "We really do not have any major findings (yet) and the MPS spot test is much less positive (age related)." Thus, at least from my distant vantage point, it appears the most interesting early finding, the very positive MPS spot test, may have been leading us astray. The next step has been to send the sample to Germany for analysis to determine what the individual glycosaminoglycans are in the urine, which may lead us to possible enzyme tests or help confirm the positive spot test as a blind alley.
As you know, the lack of typical clinical findings have diminished the probability of MPS, and with the MRI findings, which are also not typical for MPS, we are still at a loss to providing a definitive diagnosis.
This seems positive, so the findings are not as significant from him aging, that is a good thing. How is acting? Has he had any epidsodes of some sort?
ReplyDelete