January 9, 2009

"Operation Diagnose Bertrand"

Last Tuesday, January 6, Bertrand saw a new neurologist,
Dr. Ai Sakonju. Dr. Sakonju is an assistant professor at the University of Utah School of Medicine. She works closely with Dr. Kathryn Swoboda, director of the Pediatric Motor Disorders Research Program in the U of U Department of Neurology.

On a personal note, Dr. Sakonju has a baby a few days older than Bertrand. She seems to be super high energy. The word I'd use to describe her: bloodhound. The deeper Dr. S. pried into Bertrand's case history, the more enthusiastic she became. Both Matthew and I left the office with the hope (premonition?) that we finally met the person who will put all the pieces together.

We discussed a tiered plan of action. (I call it "Operation Diagnose Bertrand".) The first step involves testing Bertrand for Sydenham's chorea. Sydenham's results from childhood infection with Group A beta-hemolytic Streptococci -- strep throat in Bertrand's case.

(At six months old, Bertrand contracted strep at a wedding in Florida. We were extremely fortunate that it was correctly diagnosed! Strep is extremely uncommon in infants. We came very close to walking out of the doctor's office with a diagnosis for croup, a common infant ailment, which is treated with steroids, not antibiotics. This would have been a potentially fatal mistake.)

If positive test results return for Sydenham's, we will throw a party and I will cry from joy. While not good, it is a treatable condition and will likely diminish with age. We'd have to check right away for heart valve damage. And, due to his elevated ALT and AST levels (liver enzymes) and alpha-fetoprotein (another liver byproduct), the treatment Bertrand would likely by placed on is valium. (This is in addition to his current physical therapy and occupational therapy regimine.) The valium would reduce the involuntary muscle movements (chorea) enough for Bertrand to finally be able to learn how to use his little body. Valium would not be the doctors' first choice if it weren't for Bertrand's troublesome liver.

Step Two in "Operation Diagnose Bertrand" involves learning more about his liver. He has already undergone a liver ultrasound, but a CT scan will provide more important information, such as blood flow and detailed tissue differentiation. We will be working again with Dr. Linda Book, who had previously found his liver normal. (At the time, Dr. Book believed Bertrand's case was one of ataxia telangiectasia.) Depending on what we find or don't find, we may have to consider a liver biopsy.

Step Three consists primarily of ataxia telangiectasia (AT) genetic testing. This is a test which measures how DNA (taken from a blood sample) changes when exposed to radiation. There are lots of conditions which could make this test come back positive, so it is not a 100% conclusive test for AT. We'd have to look into conditions with a genetic genesis and keep an open mind. The world expert on AT, Dr. Thomas Crawford, has said (TWICE) that he does not believe Bertrand has AT. We keep hoping that Dr. Crawford is right!

Steps Four + will have to wait for the next post. To be continued...

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