Delving into HUNTINGTON'S DISEASE.

• Author: GOOLKASIAN, VIRGINIA

"Since the discovery of the gene responsible for HD [in 1993], scientists have made strides each year towards more-effective treatments and a possible cure."

WHEN I STARTED WORKING as a medical social worker 15 years ago, Huntington's Disease (HD) was relatively unknown, with little research to provide information or create awareness. A genetic neurodegenerative disorder, HD inevitably leads to death. Because it is an incurable, difficult disease with numerous symptoms, many didn't know how to diagnose or treat HD patients.

Breakthroughs in research resulted in the discovery of the HD gene in 1993 at Massachusetts General Hospital and the development of a blood test that verifies if a person received the gene, but not the age at which symptoms will appear. A child of a person with HD has a 50/50 chance of inheriting the disease. Because it does not skip generations, a nonaffected person cannot pass the disease on to his or her child.

HD was named after George Sumner Huntington, a physician from Long Island, N.Y., who published a paper about the disease in the late 1860s. HD, which affects approximately one in 10,000 people, causes a gradual deterioration of the individual's mind and body due to cell death in the brain. Symptoms usually begin in one's 30s through 50s, but may appear as late as a person's 70s or 80s, lasting an average of 15 years. Although less common, there is a juvenile onset of the disease. (The youngest person diagnosed was two years old.)

Symptoms fall into three categories: movement, cognitive, and emotional. Symptoms, as well as severity, vary greatly among people. Mood swings, involuntary movement, impaired judgment, an inability to control impulses, severe weight loss, and difficulty with memory, organizing, and planning are among the symptoms. Many people with HD suffer a major affective depression, and some have hallucinations. Symptoms are progressive, robbing its victims of the ability to speak, walk, and swallow.

Movement symptoms begin gradually, then increase in severity and frequency. A person with HD experiences impaired speech and swallowing as well as uncontrollable dance-like movements called chorea. (Huntington's disease is sometimes called Huntington's chorea.)The disorder affects metabolism, causing the individual to lose up to 10,000 calories per day. Because of this, people with HD need a high-calorie diet. Frappes, shakes, and puddings are examples of high-calorie foods that are easy to swallow.

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