Stuart Green's vignettes 17 and 18

      1. Lexington, Kentucky

      Training in Kentucky which I did in the late sixties and early seventies with Dr. David Clarke, was a wonderful experience which combined paediatric neurology and adult neurology. There was a good team of people with residents from all over the world and there was a wide variety of patients from well-to-do and well-heeled stud owners and horse trainers through farmhands to poor hillbillies.
      The hillbillies in particular were straightforward people living in what are called hollows or creeks, often intermarrying, with a lot of inbred genetic disease, very phlegmatic about their condition and often presenting very late. I saw a young boy about six or seven who had some form of weakness, not as severe as a muscular dystrophy but what one called peripheral neuropathy where the sheath on the nerves are weakened. It was called in those days Charcot–Marie–Tooth after the three neurologists who described it. It often runs in families in a dominant fashion with each generation being affected but sometimes different from each other. When I asked about the history of his weakness (he had not come with his mother and father but with an aunt) she told me that she didn't know the boy's father very well (he had gone up North to work early in life and never come back) but his paternal grandmother now aged about 75 was so weak in her hands she couldn't even pull the trigger on a gun! I think we had the answer.
      Lexington had its own special culture. Most people have something to do with horses – whether they owned horses, raced horses, sold horses, cleaned horses or lived with horses. They had very powerful family structures and they had their own sets of values. Many of the poorer families lived in the mountains – true hillbillies – often called creeks, and these valleys were separated from other valleys and there was a lot of interbreeding. One saw a range of genetic conditions. I remember they all had very powerful family ties illustrated by two vignettes.
      A young boy with clear developmental delay and seizures was brought to me. He looked slightly odd and one thing that was obvious was that he had six fingers on both hands. When I mentioned this to the mother she was quite accepting of it, she obviously realised it and the conversation went something like:
      • Dr. Green – “I see that Billy Joe has six fingers on each hand.”
        • Mother – “Yep”
      • Dr. Green – “Is there anyone else in the family who has six fingers on their hands?”
        • Mother – “Yep” (Mother hadn't!)
      • Dr. Green – “Who is that”
        • Mother – “His sister Marybell, his brother Billy Dean, his Father, his Uncle Joe and Grandpa Charlie. They've they all got six fingers on their hands.
      • Dr. Green – “Oh” I said. “Where do you come from?”
        • Mother – “Near Cumberland Gap” (about forty miles from Lexington, in a rather isolated area)
      • Dr. Green – “What is the place called”
        • Mother – “Six finger Creek. Doc”
      I should have known! She didn't actually say “How many fingers have you got doctor?” but I think she was going to.

      2. Headaches at home

      A woman in her thirties with rather bad migraine attacks was seen in clinic having missed an appointment and she was very apologetic. She explained to me that it had been really necessary to miss the previous appointment because her husband had died (she hoped this was an adequate excuse). I told her of course I understood. She was a youngish woman and so I tentatively asked whether he had had a heart attack or perhaps an accident. “Well actually” she said “he was shot”. “I am very sorry to hear that” I said “Was it a farming accident”. “No” she said “My boy friend shot him and what with all the problems with the family and the police I just clean plumb forgot about the appointment”. I felt this was an adequate excuse for missing a routine neurology clinic appointment and decided it was not necessary to admonish her for this! However she was still not too sure if that was sufficient excuse herself!