The face of Alzheimer's isn't always old. Sometimes it belongs to someone like Giedre Cohen, who is 37, yet struggles to remember her own name.
Until about a year ago, Giedre was a "young, healthy, beautiful" woman just starting her life, says her husband, Tal Cohen, a real estate developer in Los Angeles. Now, he says, "her mind is slowly wasting away."
People like Giedre have a rare gene mutation that causes symptoms of Alzheimer's to appear before they turn 60.
Until recently, people who inherited this gene had no hope of avoiding dementia and an early death. Now there is a glimmer of hope, thanks to a project called DIAN TU that is allowing them to take part in a study of experimental Alzheimer's drugs.
The project also could have a huge payoff for society, says Dr. Randall Bateman, a professor of neurology at Washington University in St. Louis. "It's highly likely," he says, that the first drug able to prevent or delay Alzheimer's will emerge from studies of people genetically destined to get the disease.
Giedre Cohen enrolled in the DIAN TU study in 2013, when she still had no symptoms of Alzheimer's, her husband says. Their story began more than a decade earlier.
In 2002, Tal Cohen was on a trip to Miami to attend a wedding. He met Giedre, who was born in Lithuania, and the two fell in love.
"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," Cohen says.
"Life was going great," he says, until Giedre's older sister came out for a visit and seemed to be having memory problems. "She forgot that she lives in Connecticut," he says, "and I said, 'Something is fundamentally wrong here.' "
What was wrong was that Giedre's sister had the gene mutation that causes Alzheimer's to develop very early. Cohen says he consulted a neurologist who told him the odds were 50-50 that his wife also had the mutation.
Tal and Giedre decided they had to do something. And pretty soon they found DIAN, the Dominantly Inherited Alzheimer Network, an international research project based at Washington University in St. Louis.
The network was created specifically for members of families affected by the mutation that causes early Alzheimer's. "Virtually 100 percent of the mutation carriers, even if they're asymptomatic now, are going to become symptomatic," says Dr. John Morris, DIAN's principal investigator and a professor of neurology at Washington University.
At first, DIAN's purpose was to study participants to learn more about Alzheimer's. But when potential drugs for Alzheimer's were ready to be tested in people, the network created DIAN TU (the TU stands for Trials Unit) to help participants get access to experimental drugs.
That effort now includes 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 DIAN TU gave them a way to reach these people.
Alzheimer's prevention trials would be very hard to carry out in the general population because Alzheimer's can take decades to develop, and many people never get it. People with this mutation, however, are virtually certain to develop Alzheimer's around the same age that one of their parents did.
This type of genetically targeted drug testing has been done before: Several decades ago, for example, drug companies tested the first cholesterol-lowering drugs in a population of people who had a huge genetic risk for heart disease.
"These families had mutations that caused them to have heart attacks and strokes in their 30s, 40s and 50s," Bateman says. But the cholesterol drugs were able to "melt away cholesterol deposits" in these people and extend their lives by decades.
Now, people with the Alzheimer's mutation need a similar success, Bateman says.
"Time is running out for these families," he says. "As they and their siblings and their children advance in age, they're marching toward that inevitable certainty of Alzheimer's disease and death."
So far, the DIAN TU study has included two different drugs intended to reduce amyloid, the sticky substance that builds up in the brains of people with Alzheimer's.
Because of the way the study is structured, 75 percent of people participating are getting one of the candidate drugs, while 25 percent are getting a placebo. The study is "blinded," which means that Giedre and Tal Cohen don't yet know which of the drug candidates she's getting, if any.
They do know that Giedre's symptoms have continued to progress, her husband says.
"Every time Giedre gets dosed, I anguish," Tal says, "wondering if she is getting something that will help her — or just a saline solution that will do nothing, and I'm putting her through this needlessly."
Last weekend, the couple traveled to Washington, D.C., to attend the first ever meeting of DIAN families. It was held just before the annual Alzheimer's Association International Conference, which took place this week.
Cohen says it was comforting to meet families with the same tragic problem he and his wife are facing. But the meeting also gave him a forum to make an impassioned plea for better access to the latest experimental Alzheimer's drugs — drugs that might yet help his wife.
"We had the FDA there, the regulators; we had the pharma guys, we had the researchers," he says. "They heard me loud and clear."
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. Transcript provided by NPR, Copyright NPR.