STEVE INSKEEP, HOST:
We associate Alzheimer's with aging, but sometimes that disease strikes people who can be described like this.
TAL COHEN: Young, healthy, beautiful, graduated from USC, just starting her life.
INSKEEP: For people with a rare gene mutation, symptoms may appear before age 40. NPR's John Hamilton reports on how people with that mutation are working with researchers and drug companies to find a treatment for Alzheimer's disease.
JOHN HAMILTON, BYLINE: That guy who was talking, that's Tal Cohen. In 2002, he fell in love with a woman named Giedre. She's sitting beside him as he begins to tell me their story.
Would you like to say your name?
GIEDRE COHEN: Yeah.
HAMILTON: Your name?
G. COHEN: Um... Um...
T. COHEN: Giedre.
G. COHEN: Giedre.
T. COHEN: Giedre Cohen.
G. COHEN: Oh, yeah. Yeah.
HAMILTON: Giedre Cohen is 37. She was born in Lithuania, but she met Tal in Miami when he was in town for a wedding.
T. COHEN: I spent the next basically two years flying back and forth every two weeks or so in a long-distance relationship until I finally convinced her to come out to Los Angeles.
HAMILTON: Cohen says life was great for a few years. Then Giedre's older sister came out for a visit.
T. COHEN: And when she was out, she forgot where she came from. She forgot that she lives in Connecticut. And I said, you know, this is - something is fundamentally wrong here.
HAMILTON: What was wrong was that Giedre's sister had a gene mutation that causes Alzheimer's to develop very early. Cohen says a neurologist told him what that meant for Giedre.
T. COHEN: He said, Tal, you know, you need to be aware of the fact that now your wife has a 50 percent probability of inheriting that gene as well.
HAMILTON: Tal and Giedre decided they had to do something. And pretty soon, they found a research project specifically for people with this rare gene mutation. It's called DIAN, the Dominantly Inherited Alzheimer Network. It's an international partnership run by the Washington University School of Medicine in St. Louis. John Morris is the principal investigator for DIAN. He says people who inherit this Alzheimer's gene face a certain future.
JOHN MORRIS: Virtually 100 percent of the mutation carriers, even if they're asymptomatic now, are going to become symptomatic, destined to develop symptomatic Alzheimer's.
HAMILTON: At first, the DIAN network studied participants simply to learn more about Alzheimer's. But Randall Bateman, a professor of neurology at Washington University, says when potential drugs for Alzheimer's began to arrive, he knew the network's mission had to expand.
RANDALL BATEMAN: We then came up with a plan of how we could start prevention trials to try to prevent the disease from ever damaging the brain.
HAMILTON: That plan included drug companies, the National Institute on Aging, the Alzheimer's Association and more than 400 members of families with the mutation. When drug companies began to focus on preventing Alzheimer's a few years ago, they became very interested in people who had no symptoms but were certain to develop the disease. And they realized there were quite a few of those people in the DIAN network. Bateman says cholesterol drugs came from a similar approach involving another set of genetically rare families.
BATEMAN: These rare families had mutations which caused them to have heart attacks and strokes in their 30s, 40s and 50s. And the very first drugs that were developed to lower cholesterol were tested in them and shown to melt away these cholesterol deposits.
HAMILTON: Bateman says these new drugs gave people with the cholesterol mutation decades of extra life. Now, he says, families with the Alzheimer's mutation need a similar success.
BATEMAN: Time is running out for these families. As they and their siblings and their children advance in age, they're marching towards that inevitable certainty of Alzheimer's disease and death from it.
HAMILTON: Tal Cohen says his wife Giedre has been participating in drug trials through the DIAN network for a couple of years now. A few days ago, the couple came to Washington, D.C. to attend the first-ever meeting of DIAN families. Cohen says it was comforting to meet people in the same tragic situation. But the meeting also gave him a forum to make an impassioned plea for better access to experimental Alzheimer's drugs, drugs that just might help his wife.
T. COHEN: We had the FDA there, the regulators. We had the pharma guys. We had the researchers. They heard me loud and clear.
HAMILTON: John Hamilton, NPR News, Washington.
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