June 24, 2009

Genetics Follow-up and NIH Travel Confirmed

Bertrand had a follow-up appointment with his genetic and metabolic specialist, Dr. Nicola Longo, this morning. Dr. Longo joined Dr. Sakonju (neurologist) and Dr. Samson-Fang (pediatrician) in remarking upon Bertrand's improvements: decreased movement, increased control, improved social interactions, etc. Improvement was not what he was expecting, even accounting for Bertrand's medications. This improvement coupled with a slew of negative test results goes quite a way to discount several life-threatening disorders but not all.

Dr. Longo wants to retest for Krabbe's, copper, ceruloplasmin, purine, oligosaccharides and a few other items. Because of the low copper, it is possible that Bertrand has a mild case of Menke's or another rare disease I couldn't pronounce much less spell. (I was unable to take notes due to Bertrand's protests.) However, since Bertrand has abnormal liver function and copper is processed in the liver, this could be throwing the copper values off.

It is also possible that Bertrand has abnormal oligosaccharides because of his age. Apparently oligosaccharides are elevated in some babies for no known reason and normalize over time. Dr. Longo wants to see if their levels are decreasing similar to the AFP and liver functions. The AFP is markedly lower and B's liver functions, while they went up this past test, have been going down over time as well.

Bottom line, while Dr. Longo said Bertrand's MRI was unremarkable, Bertrand will need another in a few months and still needs to be followed closely because he still "looks" genetic. Dr. Longo really wants to figure him out and not just because of our family planning concerns. I think this visit did a lot to peak Dr. L's interest because Bertrand's case is getting even more atypical. As if that was even possible. :-P

In other news, even though Bertrand has tested out of vitamin B deficiency multiple times, we'll be trying some folic acid supplementation just for the heck of it. It won't hurt him, so we'll test it out for a month. If it helps him, it'll be a good clue and we'll keep refilling the prescription.

Lastly, our travel arrangements to the NIH were finally confirmed today! We'll be heading out July 13th at around 10 am and this is the first time Bertrand gets his very own seat on an airplane! My lap is happy about the news. :) Bertrand and I are excited about finally meeting Carrie and Hannah while we are at the NIH. Carrie is a fantastic person, as is little Hannah. I just wish we were meeting under a different set of circumstances.

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