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The Saga of Sam
Tuesday, March 22, 1994
The day was spent in Hopkins formulating a plan for diagnosis. Dr. Schwarz clearly wanted to do a liver biopsy but your blood clotting times were about one and one half times normal, making the biopsy too risky. There were many examinations as teams of doctors worked on proving or disproving various theories. Nothing was obvious.
Dr. Schwarz planned a liver biopsy for Wednesday afternoon. If your clotting times did not allow a conventional biopsy, an alternative existed - take a tissue sample without puncturing the outside capsule of the liver by going through the jugular vein. That way the internal pressure of the liver would reduce the risk of bleeding. I went to work Wednesday morning hoping to make it back in time for the afternoon biopsy.
When I got to the hospital, you and Mom had left the floor and we met in the lobby. The biopsy was too risky; you were going for an eye test. Don't ask me, it seemed bizarre, but what wasn't. Well, that eye test was well worthwhile. The test showed the presence of Keyser-Fleischer rings, a strong, if not conclusive test of Wilson's Disease. The ophthalmologist was certain. Pictures were taken and there was an element of relief in at least knowing the 'devil' that we were dealing with. Dr. Schwarz was her usual cautious self. To be sure, more tests were to be done, and she needed to talk to little known researchers in New York who concentrated on Wilson's Disease.
The Wilson's Disease diagnosis feels absurd. The disease is genetic. Through a rare strange twist of fate, Mom and Dad both have a recessive gene that, when joined at conception, produce this disease. Given our genetic makeup, you and Shaun had a 25 percent chance of having the disease, a 50 percent chance of being carriers, and a 25 percent chance of having no defect. The word of Wilson's Disease spread fast. Hopkins had treated a few cases, and I'm not certain, but may not have diagnosed any before. Dr. Field, a young resident, was married to a geneticist. His literature showed an incident rate of 1 in 500,000, that's two in a million. If there was a lottery to win, this wasn't the one. And now, we had to also think about Shaun.
Wilson's Disease presents itself in one of two ways: either as hepatic (liver) disease between six and twenty years of age; or as a neurological disease later. We were fortunate that it was now and hepatic. The disease caused the liver's copper transport mechanism to malfunction. The body slowly builds up copper in trace amounts until the liver is saturated and diseased. The copper accumulates in the eyes (hence the rings), the brain, and just about all the soft tissues of the body. The good news was that Wilson's Disease was treatable. Pennicillamine is used to de-copper the body and then control the transport of copper out of the body. Dr. Schwarz seemed relieved but cautious. We had to confirm the diagnosis by sending blood to the lab in New York and doing a urine copper test. Shaun would need to be tested.
Important coping mechanisms became apparent. Preparing for the worst, but hoping for the best governed our attitudes. Sure IT was serious, but we thought we knew what IT was, and IT had a treatment. Humor also helped. I was concerned because you have always lived in homes with private water systems and copper pipes. How much copper were we introducing into your system just drinking the acidic water? Dr. Schwarz shared my concern and at 11:00 P.M. we were looking for trace element test tubes so that we could send water samples to New York. We were having trouble identifying and locating these tubes. As we looked through the chemistry lab books, the ward clerk pointed out that there was a doctor just down the hall. I cracked up. Here I am with Dr. Schwarz, one of the prominent pediatric liver specialists in the world, and the ward clerk treated her like a visitor. Prejudices come in all shapes. We wound up wandering through the bowels of Hopkins looking for the central chemistry lab. Well, we did indeed find the lab and tubes - this prominent physician and me. It was great comic relief.
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