A Desperate Race Against A Deadly Legacy

March 05, 1986|By Peter Gorner and Jeff Lyon, Chicago Tribune.

In the 25-square-block barrio of San Luis, for instance, the Huntington`s rate is 700 times higher than normal. About 150 of the 3,000 villagers currently are living with the disease, and 2,000 others are at risk.

In the little isolated village of Lagunetas, just 21 tin shacks built on stilts over the water and accessible only by boat, many of the 200 residents are descended from or related to one husband and wife, both of whom are Huntington`s victims and still alive. As many as 25 per cent of the villagers are doomed.

These huge clusters of victims were discovered in the 1950s by a physician, Dr. Americo Negrette, who had been assigned rural duty. When Negrette walked into San Luis, he noticed that people looked strange.

``Why is everybody drunk?`` he asked. ``They`re not drunk,`` he was told. ``They`re sick.``

Negrette was flabbergasted. By 1952, he had diagnosed the San Luis plague as Huntington`s but was scoffed at by colleagues. Such a high incidence was unheard of.

Negrette and his medical student, Avila Giron, though, methodically compiled a family pedigree of 200 residents that later became the foundation on which researchers could trace the pattern of the inherited disease, the key in finding a genetic marker.

Negrette also speculated--correctly, researchers say--that all the families must have inherited the common gene 150 years ago from a single ancestor, perhaps a Spanish sailor who had brought it to the New World.

Negrette paved the way for Nancy Wexler in 1979, when she made her first scientific expedition to Venezuela.

Wexler organized and served as project officer for the study while on staff at the National Institute of Neurological and Communicative Disorders and Stroke.

Wexler shares a special bond with the Venezuelans, who call her La Catira, the blond. In 1968, she and her sister, Alice, had been carefree college students when their father, psychoanalyst Milton Wexler, summoned them home to Los Angeles for a family meeting. They learned that their mother, Leonore Wexler, then 53, had been diagnosed with Huntington`s disease.

``We were stunned,`` Nancy recalls. ``She had never mentioned that she might carry the gene. She had believed that only men got HD. Her father died from it, we learned, as did her three brothers. By the time she found out that she could be a carrier, my sister and I had been born. So she was hopeful that she had escaped.``

Milton Wexler started the foundation in order to try to help his wife and others. The family purpose: ``To get the disease before it gets us.`` Leonore Wexler died 10 painful years later.

Both sisters, who earned their doctorates (Alice in history, Nancy in clinical psychology), decided not to marry and to remain childless. The foundation solicits public money, sponsors scientific workshops, which have become highly respected, and awards grants.

After a scouting trip to Venezuela in 1979, Wexler led her first expedition. Doctors and nurses drew blood and interviewed families. Psychologists administered tests to detect early signs of impairment. Neurologists gave physical exams, checking for deterioration.

Blood samples were drawn from those Venezuelans closely related to a Huntington`s victim, a complicated matter because so many people have the same names. Such days were always chaotic, Wexler says.

``It was always hot and humid--about 100 degrees. And, of course, there was no air-conditioning. Many people had never given blood before and were afraid to lose their fluids. Men were more recalcitrant than women. Some men believed they couldn`t drink if they gave blood and they didn`t want their drinking interrupted. So we had to resort on occasion to drawing blood from one arm and giving them a beer in the other.

``The hardest people to collect from were the old and healthy. They had escaped the illness. They were scared because we wanted their blood, too. What did that mean?``

The scientists took special interest in those villagers who had inherited a double dose of the gene. One Lagunetas husband and wife had 14 children, each of whom had a 75 per cent chance of developing Huntington`s. Furthermore, these 14 had produced 62 grandchildren and great-grandchildren. Their risks vary from 25 to 100 per cent.

As the study progressed, a crucial family tree was laboriously and meticulously compiled. The result was a computer printout that stretches more than 100 feet and holds the family history of more than 5,000 people, more than 4,000 of whom are still alive. Scientists believe that all these people were related to one woman who died of Huntington`s disease more than a century ago.