Thursday, July 23, 2015

Tuberous sclerosis tale

When I had just started my first real job after fellowship at St. Christopher's Hospital for Children in Philadelphia in 1984, I made my first visit to an outreach clinic at a nearby hospital. There I met an agitated and angry mother. Her until then perfect young son had experienced a seizure or two. She wanted her son to be seen by the finest pediatric neurologist, the eminence grise, Dr. Warren Grover. Unbeknownst to her, upon my arrival on the scene, I was substituted for Dr. Grover and she was to see a wet behind the ears pediatric neurologist just out of training. I indicated that I understood her plight and indicated that she could reschedule with Dr. Grover. "Are you board certified?" "Board eligible," I explained. She said, "Well, I'm here and you're here. We might as well go ahead." It was a great start. Her son had focal abnormalities on his EEG and he was started on carbamazepine. When cerebral imaging was done, it was clear that he had tuberous sclerosis. So I then needed to explain to this rather volatile and distrusting mother that her child had a diagnosis with multiple implications which he had a 50% chance of passing to his offspring, that there was a possibility that she or the father also had this disorder and that, if one of them did, there was a 50% likelihood of his siblings being affected. She and her son stayed with me until I left Philadelphia.

1 comment:

  1. See Dr. Warren Grover obituary:

    Child Neurology Society Lifetime Achievement Award: (pg 4)