I just got off the phone with Dr. Ai Sakonju, Bertrand's neurologist. We discussed some of the early lab results and next steps.
Bertrand's alpha-fetoprotein dropped to 259.8! A second drop in a row--this is great news! (However, keep in mind, the normal range is from 0 - 15.) However, his ALT and AST (liver enzymes) stayed elevated. Which is odd.
The strep test results for Sydenham's chorea (which we weren't expecting for another two weeks) came back negative. So, it is not Sydenham's.
Dr. Sakonju was honest with us saying that when presented with Bertrand's case, gastroenterology says its neurology while neurology says its gastroenterology.
We discussed Bertrand's CT scan and its implications for gastroenterology. A liver biopsy was mentioned, but we will hold on further discussion until Dr. Book, Bertrand' GI doctor sees him in March. Given that the liver looked normal on the scan, a biopsy may not be recommended.
We also discussed Bertrand's positive reaction to the sedative during the CT scan and possible medication. This conversation will also wait until we get the AT results back or the next time we see Dr. Sakonju in office.
Dr. Sakonju would also like to see a CT scan of the brain to look for calcifications in the basel ganglia. She mentioned looking at Tay Sachs disease (apparently it is not just a Jewish disease) and other metabolic disorders. Again, this will be after the results for the AT DNA test come in.
I discussed other possible genetic/chromosomal work with Dr. S. She said that while we may eventually get there after we've re-ruled out metabolic, Bertrand doesn't fit the profile of a child with a chromosomal disorder. He is extremely symmetrical and well formed with no extra (or missing) pieces. He is a very beautiful, normal-looking baby.
As this post was written in a rush, I will probably add and edit it later this evening.
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