Today, I spoke with Dr. Lisa Samson-Fang, Bertrand's pediatrician. She had spoken with Drs. Linda Book (Gastroenterology) and Ai Sakonju (Neurology) concerning the next steps in Bertrand's diagnosis.
Even after a second consult with Dr. Thomas Crawford, we are going forward with the genetic test for Ataxia Telangiectasia early next week, along with his regular blood work and the test for Sydenham's Chorea. (I'll be confirming everything for the AT test with the Johns Hopkins' DNA Diagnostic Laboratory tomorrow.) The results will be back in 4-6 weeks for the AT Test and 1-2 weeks for the Sydenham's.
While we wait for the results, Bertrand will undergo a triple phase CT scan of the abdomen with focus on the liver. (For that, we're securing a sedation slot due to the probable need for anesthesia.) He'll be seeing Dr. Book again after the scan to go over the results and discuss next steps, including liver biopsy.
Tomorrow, I'll type up what we discussed at his Neurologist's office on Tuesday and report on last Monday's physical therapy session.
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