By B.J. POLLOCK
Marc Church: 24; handsome; personable; kind-hearted; charming; funny; lovable - dying.
Marc is the victim of one of the most despicable, misunderstood illnesses known to man: Huntington's Disease, a fatal, hereditary, neurodegenerative disease which is recorded as far back as the Middle Ages and effects one in 10,000 people, but is scarcely heard of by the general population. The HD gene was identified only seven years ago and is referred to by National Institute of Neurological Disorders and Stroke Director Murray Goldstein as "the crown jewel of recent neurological discoveries." In the U.S. alone, about 30,000 people are currently diagnosed with the disease and another 150,000 are at risk of developing HD, which is found in every country in the world. Children of parents with the disease a 50-50 chance of developing it themselves.
Most people with HD develop symptoms in their early forties and fifties, although subtle changes may occur much earlier. Following diagnosis, the average survival time of a patient is 15-20 years. Only about 10 percent of patients experience onset of symptoms before age 20, in which case it is known as juvenile HD. Juvenile HD patients inherit the disease from either parent.
Such is the case with Marc, who is fourth-generation HD, with his great-grandmother,grandmother,father and two uncles also having been diagnosed with the illness. Marc's fraternal twin Scott is a teacher in Illinois and has thus far been non-symptomatic and chosen not to be tested for HD. When Marc's father Ron and his mother Loretta were married in 1974, she knew his grandmother had HD, but didn't know what it was. "Nobody explained it to me," she says. About 15 years later, Loretta and Ron were divorced. "I thought I was living with a man with depression and anger who chose not to do anything about it. Now I know he was sick." HD is diagnosed via a thorough interview with the patient, obtaining the patient's medical and family history, performing a complete neurological examination, genetic and laboratory tests and assessing intellectual or emotional problems. Magnetic resonance imaging and positron emission tomography are two other tools used to diagnose the disease. In addition, a presymptomatic test is available for at-risk people.
