When I was ten years old, my best friend Lindas father died. We knew he had been
very sick, but Linda told us nothing else about his illness. When you are ten, the death
of someone close to you is usually too frightening to talk about. Lindas friends would
never have dreamed of asking, “What did your daddy die of?”
Although she moved to another city when we were both 13, I kept in touch with
Linda. When she was twenty, she told me that her brother Peter was ill. Peter was 31,
married, and had a two-year-old daughter. Over the next three years, I learned from
Linda that his condition had gotten much worse, and he had been confined to a
hospital. A year later Linda wrote to tell me that he had died and that her unmarried
sister Hope, then 33, was showing early signs of the same disease that had taken the
lives of her father and brother.
Linda disclosed in that letter that her father, Peter, and now Hope were victims of
Huntingtons Disease. She explained that it is a genetic disease caused by an
autosomal dominant gene. Anyone who inherits the gene will suffer physical and
mental deterioration, usually beginning about age forty. Symptoms from the most
lethal form of the gene can sometimes begin several years earlier. The disease begins
by causing a variety of physical symptoms. The victim loses muscular control, soon
becoming unable to walk normally or do tasks requiring any coordinated motion.
Speech becomes difficult and then impossible. Within a few years, a serious mental
disturbance occurs followed inevitably by death. There is no cure, no effective
treatment for the disease.
One purpose of Lindas letter was to seek my advice. She faces a very difficult
decision. Genetic research has identified the form of the gene that causes Huntingtons
disease. A test has been developed in which the gene is cloned, and DNA analysis can
be done to determine if a person is carrying the lethal allele. Linda is now 24 and she
has fallen in love. She knows there is a 50% chance that she inherited the lethal gene
from her father. The question she has asked me to help her with is should she have the
test done to find out whether or not she is doomed to suffer the same fate as her father,
brother, and sister?