By Pam Belluck for the NY Times
June 1, 2010
YARUMAL, Colombia — Tucked away on a steep street in this rough-hewn mountain town, an old woman found herself diapering her middle-age children.
At frighteningly young ages, in their 40s, four of Laura Cuartas’s children began forgetting and falling apart, assaulted by what people here have long called La Bobera, the foolishness. It is a condition attributed, in hushed rumors, to everything from touching a mysterious tree to the revenge of a wronged priest.
It is Alzheimer’s disease, and at 82, Mrs. Cuartas, her gray raisin of a face grave, takes care of three of her afflicted children.
One son, Darío, 55, babbles incoherently, shreds his socks and diapers, and squirms so vigorously he is sometimes tied to a chair with baggy blue shorts.
A daughter, María Elsy, 61, a nurse who at 48 started forgetting patients’ medications, and whose rages made her attack a sister who bathed her, is a human shell, mute, fed by nose tube.
Another son, Oderis, 50, denies that his memory is dying, that he remembers to buy only one thing at a time: milk, not milk and plantains. If he gets Alzheimer’s, he says, he will poison himself.
“To see your children like this ... ,” Mrs. Cuartas said. “It’s horrible, horrible. I wouldn’t wish this on a rabid dog. It is the most terrifying illness on the face of the earth.”
For generations, the illness has tormented these and thousands of others among a sprawling group of relatives: the world’s largest family to experience Alzheimer’s disease. Now, the Colombian clan is center stage in a potentially groundbreaking assault on Alzheimer’s, a plan to see if giving treatment before dementia starts can lead to preventing Alzheimer’s altogether.
Most family members come from one Andes region, Antioquia. Geography, and Basque ancestry, have isolated people here, who call themselves paisas, countrymen. Over three centuries, many in this clan of 5,000 people have inherited a single genetic mutation guaranteeing that they will develop Alzheimer’s.
Large families, and intermarriage, have accelerated the spread. Mrs. Cuartas’s fourth debilitated child, in Medellín, Carlos Alberto Villegas, a former livestock trader and guitar serenader now often fed by baby bottle, married a distant cousin. His mother-in-law is an addled ghost; three of his wife’s 11 siblings, so far, are developing dementia.
With Alzheimer’s in both parents’ families, Mr. Villegas’s three children could face extraordinary risk. One, Natalia, 22, asks: “How long have I got, till I’m 35? There’s no way out.”
Memories begin failing in one’s 40s, occasionally as early as 32. By 47, on average, full-blown Alzheimer’s develops.
Their form of Alzheimer’s, early-onset, was once considered too different to provide clues about far more common late-onset Alzheimer’s, which has unknown causes and primarily affects people over 65.
But it turns out that both forms produce nearly identical brain changes and symptoms. Now, scientists will test as-yet-unproven treatments on Colombians genetically destined for Alzheimer’s but not yet showing symptoms. They will give a to-be-determined drug or vaccine and see if it prevents memory loss or brain atrophy. If their disease can be halted, that could generate treatments to protect millions worldwide from common Alzheimer’s.
Devising an Early Attack
Alzheimer’s has repeatedly resisted attempts to treat it. Current drugs, for people who are already impaired, show little benefit. Now scientists want to attack earlier. New findings show “the brain is badly damaged by the time they have dementia,” said Dr. John C. Morris, an Alzheimer’s researcher at Washington University in St. Louis. “Perhaps the reason our therapies have been ineffective or mostly ineffective is that we’re administering them too late.”
With Alzheimer’s afflicting 5.3 million Americans and 30 million people worldwide, numbers that some predict will double or triple by 2050, “we can’t wait to try to do prevention until we are absolutely certain what causes” the disease, said Neil Buckholtz, chief of dementias of aging at the National Institute on Aging. “This public health emergency,” he said, is “just going to get out of control if we don’t do something.”
But preventive research is difficult. Participants should be people guaranteed, or highly likely, to develop dementia, and with common Alzheimer’s identifying such people is challenging because the disease’s cause is unknown. Also, because people would not be sick when treated, potential negative side effects of drugs are especially worrisome.
Colombia appears to be the best option. Mutation carriers always develop Alzheimer’s, and researchers know roughly when. They can give treatment about five years before expected memory loss, then see if brain changes or symptoms occur later or not at all.
Since Colombians with Alzheimer’s are young, without many old-age ailments, they have “cleaner brains that can give a better picture” of whether drugs work, Dr. Buckholtz said.
And the extended family’s single location, large size and similar lifestyles provide enough comparable participants for solid scientific data.
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