Although the sisters hope for successful drug treatment for their family’s dementia, they now plan for a future without it. “There’s a kind of grief about Alzheimer’s that, strange as it may seem, is comforting to be around people who understand,” Ward says. Image: Juan Diego Reyes for NPR
In some families, Alzheimer’s disease seems inevitable.
“Your grandmother has it, your mother has it, your uncle has it, your aunts have it, your cousin has it. I always assumed I would have it,” says Karen Douthitt, 57.
“It was always in our peripheral vision,” says Karen’s sister, June Ward, 61.
“Our own mother started having symptoms at age 62, so it was a part of our lives.”
Almost a decade ago, Karen, June, and an older sister, Susie Gilliam, 64, set out to find out why Alzheimer’s affects so many family members.
Since then, each sister has found out if she carries a rare gene mutation that makes Alzheimer’s inevitable. And all three have found ways to help scientists trying to develop treatments for the disease.
Bad news on the golf course
I met Karen and June in 2015 at the first-ever conference for families with a specific type of genetic mutation that makes Alzheimer’s commonly present in middle age.
The annual conference is sponsored by the Alzheimer’s Association and the Dominantly Inherited Alzheimer’s Network Trials Unit, a research program at Washington University School of Medicine in St. Louis.
Karen and June had come to Washington DC for the family conference because they had just learned about a cousin on their mother’s side.
The cousin had developed Alzheimer’s in her 50s. And genetic testing showed she carried a rare, inherited gene mutation called presenilin 1. It is one of three mutations that typically cause Alzheimer’s to appear in middle age.
The three gene mutations responsible for early Alzheimer’s disease are different from a more well-known gene called APOE4, which just slightly increases a person’s chance of developing Alzheimer’s — normally aged 65 or older. In contrast, the early mutations, including presenilin 1, make it almost certain that a person will develop the disease, and usually before the age of 60.
Any child of a parent with the presenilin 1 mutation has a 50 percent chance of inheriting it.
The genetic finding in Karen’s cousin seemed to explain why the sisters’ mother had Alzheimer’s disease in her early 60s. And it meant that one of the sisters, or all three, could also carry the mutation.
Karen learned the news in March 2015 during a round of golf.
Her conclusion: “We now have a coin toss on whether we’re going to get Alzheimer’s by the time we’re 62.” It was “kind of a heavy burden on the golf course,” Karen told me when we first met.
June had a different reaction: “It was shocking news, but still there was that element of ‘Oh, so now we finally know what’s going on.'”
Karen and June spoke to their older sister Susie about it.
The sisters had grown up with three other siblings in Swannanoa, a town in the Blue Ridge Mountains of North Carolina. But the three younger girls always had a special bond, “like a three-legged stool,” says June.
So in spring 2015 they made a decision together.
“We’re doing what we can do,” June told me at the 2015 conference, “that is, participating in the drug trials and trying to do whatever we can to make a better future.”
They began raising money for the Alzheimer’s Association. And they volunteered for Alzheimer’s drug trials led by researchers at Washington University School of Medicine in St. Louis.
Genetic testing with high stakes
All of this happened seven years ago.
This summer I sat down with Karen and June again. They attended the annual family conference, this time in San Diego. Susie, the eldest of the three, was there too.
By this time, all three sisters had found out if they were carriers of the gene mutation.
Karen, the youngest, found out shortly after the 2015 conference.
“After this meeting, I decided relatively early on to have a genetic test,” she says, “and I’m negative.”
The middle sister, June, waited until March 2016.
“I decided I was willing to do genetic testing just because I like to know things,” she says. “And it turns out I’m genetically positive for Alzheimer’s disease, which means I’ll get it if I live long enough, unless that [experimental] Medicine works.”
For years, Susie chose not to find out if she carried the gene.
“I asked my husband and my two children and they all said they wouldn’t like to know,” she says.
Eventually, however, their views changed. And in March of this year, Susie discovered that, like June, she is a carrier of the gene mutation.
At first she was devastated.
“The next morning I was wallowing in self-pity and what I’m going to miss,” says Susie. “I will miss birthdays and my grandchildren will not know me as a sane person.
“But then, on the porch, in the mountains of western North Carolina, I’m rocking, and there’s this lone cloud in the blue Carolina sky, and I prayed that it would take my worries away. And I sit and rock and that single cloud gets thinner and thinner and thinner and then, phew, it’s gone – and with it my worries.”
A plan for the future
The situation still worries little sister Karen – despite being negative for the mutation.
Late last year, she received some alarming news about her own health. She had breast cancer. But Karen says cancer doesn’t make a person as helpless as Alzheimer’s does.
“You go to a surgeon. You go to an oncologist. And then you have surgery and then radiation or chemo. There’s a to-do list,” she says. “Susie had her diagnosis in March and her to-do list is: see a lawyer, make a will.”
Karen knows that June and Susie can develop symptoms at any time. She says this will be devastating to her family, who dote on her.
“We call them marshmallows because they’re so cute,” she says.
June has found some comfort from participating in Alzheimer’s research studies.
She knows the experimental drugs she’s taking are unlikely to help her. But she hopes they will eventually lead to treatments that will make a difference for younger members of her family.
“If anything I do can have a positive impact on their lives and future, I’m in for it,” she says.
June is also a regular part of the annual conference for families affected by early Alzheimer’s mutations. She says it’s a place to hear about scientific advances — and feel good.
“There’s a kind of grief about Alzheimer’s disease that, strange as it seems, finds a comfort in the presence of people who understand,” she says.
June says attending the conference also reminds her that some other families carry a more extreme version of the gene mutation.
“Sometimes I feel guilty because I’m a 61-year-old woman with the gene who can still have a conversation and doesn’t do too many faux pas,” she says. “There are people here in their 30s who are already struggling.”
The three sisters are still hoping for a drug that can slow down Alzheimer’s. But they also plan for a future without this drug.
Karen and her husband have moved back to their childhood home in the Blue Ridge Mountains. They live in the same small house where she and her siblings grew up. It’s part of a family compound they call “the holler”.
“I’m saying it’s like the Kennedy compound, except Redneck,” says Karen. “Some of the houses have wheels. But my dream is to have my two sisters there.”
“The good thing is that we would be surrounded by family and people who have known us since we were kids,” says June. “So if we went away, someone would help us find our way back home.”
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