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A family looks for answers into why so many of them develop Alzheimer's disease

A MARTINEZ, HOST:

In some families, Alzheimer's seems inevitable.

KAREN DOUTHITT: Your grandmother has it. Your mom has it. Your uncle has it. Your aunts have it. Your cousin has it. I always assumed that I would have it.

MARTINEZ: NPR's Jon Hamilton reports on three sisters who wanted to know why Alzheimer's runs in their family and what they could do to protect future generations.

JON HAMILTON, BYLINE: The first time I spoke with Karen Douthitt was in the summer of 2015 in Washington, D.C. She was attending an annual conference for families in which Alzheimer's frequently appears in middle age. The cause is a rare genetic mutation that can be passed from generation to generation. When we met that day, she and her two older sisters had not yet been tested for this mutation. But June Ward, the middle sister, says they all knew they might have it.

JUNE WARD: Our own mother started having symptoms at age 62, which was much younger than her mother. So it has been a part of our life. I like to say it was always in our peripheral vision.

HAMILTON: The disease moved front and center when the sisters learned that the mutation had been found in a close relative. Karen heard the news during a round of golf. She knew immediately that it greatly increased the risk that she and her siblings were carrying the mutation.

DOUTHITT: My chance of being positive is 50/50, so we now have a coin flip of whether they will develop Alzheimer's by the time we're 62. It's kind of a heavy load on the golf course.

HAMILTON: June had a different reaction.

WARD: It was shocking news, but yet there was this element of, oh, so now we finally know what's been going on.

HAMILTON: Karen and June talked it over with their eldest sister, Susie Gilliam. The sisters were close. They'd grown up together in Swannanoa, a town in the Blue Ridge Mountains of North Carolina. So June says they made a decision together.

WARD: We're doing what we can do, which is to participate in the drug trials and try to take what action we can toward a better future.

HAMILTON: The sisters began raising money for the Alzheimer's Association, and they volunteered for Alzheimer's drug studies led by researchers at Washington University in St. Louis. All that happened seven years ago. This summer, I sat down with Karen and June again. They were attending the annual conference for families, this time in San Diego. Susie, the eldest sister, was there too, ready to join in a family discussion about some forms they had to fill out.

SUSIE GILLIAM: You still checked the wrong one.

HAMILTON: By this time, all three sisters had learned whether they carried the gene mutation. Karen, the youngest, had found out just after the 2015 conference.

DOUTHITT: I decided to do gene testing relatively early after that meeting, and I'm negative.

HAMILTON: The middle sister, June, went next.

WARD: In March of 2016, I decided I was ready to do genetic testing just 'cause I like to know things. And I turned out to be genetically positive for Alzheimer's disease, which means that if I live long enough, I will get it, unless the medicine works.

HAMILTON: For years, the eldest sister, Susie, had chosen not to find out whether she carried the gene.

GILLIAM: I asked my husband and my two children, and everybody said they'd just as soon not know.

HAMILTON: Eventually, though, their views changed. And in March, Susie discovered that she is also positive.

GILLIAM: The next morning I was wallowing in self-pity and what I'm going to miss. I'm going to miss birthdays, and my grandchildren won't know me, you know, as a healthy person. But then on the front porch in the mountains of western North Carolina, I'm rocking, and there's this single cloud in this Carolina blue sky, as we like to say. And I was praying for him to take my worries away. And I'm sitting there rocking, and the single cloud thins and thins and thins, and then, poof, it's gone, and with it, my worries.

HAMILTON: The situation still worries little sister Karen, even though she's negative for the mutation. Late last year, she got some alarming news about her own health. She had breast cancer. But Karen says cancer doesn't leave you feeling helpless the way Alzheimer's does.

DOUTHITT: You go see a surgeon, you go see an oncologist, and then you have surgery, and then you have radiation or chemo. And, you know, there is a to-do list. And Susie had her diagnosis in March, and her to-do list is go see an attorney, make a will, do what you can. And it's just - I'm sick of there not being a to-do list with Alzheimer's.

HAMILTON: Karen knows that her sisters, now in their 60s, could develop symptoms at any time. She says that will be devastating for her family, which dotes on Susie and June.

DOUTHITT: We have a really large family, and they are the most beloved. We call them marshmallows 'cause they're so sweet. And to watch my nieces and nephews and Susie's children have to experience that loss, I'm not looking forward to it.

HAMILTON: June has found some measure of solace by participating in Alzheimer's research studies. She knows the experimental drugs she's taking are unlikely to help her, but she hopes they'll lead to treatments that can make a difference to younger members of her family.

WARD: I love them all very, very much. And so if anything can have a positive effect for their lives and their future, I'm all in it.

HAMILTON: June also has become a regular at the annual conference for families with early Alzheimer's. She says it's a place to hear about scientific advances and to feel a sense of ease.

WARD: There's a kind of sorrow about Alzheimer's disease that, as strange as it seems, there's a comfort in being in the presence of people who understand it.

HAMILTON: June says attending the conference also reminds her that some other families carry a more extreme version of the gene mutation.

WARD: Sometimes I feel guilty because I'm a 61-year-old woman with the gene who can still have a conversation and not make too many faux pas, and there are people in their 30s here that are struggling already.

HAMILTON: The three sisters are still hoping for an experimental drug that can slow down Alzheimer's. But they are also planning for a future without that drug. Karen and her husband have moved back to her childhood home in the Blue Ridge Mountains. They live in the same small house where she and her siblings were raised. Karen says it's part of a family compound they call the holler.

DOUTHITT: I say it's like the Kennedy compound, except redneck. Some of the houses have wheels on them. But anyway, my dream is to have both of my sisters there in that little house.

HAMILTON: Susie likes that idea. So does June.

WARD: The good thing is, we would be surrounded by family and people that have known us since we were children. And so if we walked away, somebody would find us, help us find our way back home.

HAMILTON: Jon Hamilton, NPR News. Transcript provided by NPR, Copyright NPR.

Jon Hamilton is a correspondent for NPR's Science Desk. Currently he focuses on neuroscience and health risks.