Short Wave - Three Sisters And The Fight Against Alzheimer's Disease

Episode Date: September 20, 2022

Nearly a decade ago, Karen Douthitt and her sisters June Ward and Susie Gilliam set out to learn why Alzheimer's disease was affecting so many of their family members. Since then, each sister has found out whether she carries a rare gene mutation that makes Alzheimer's inescapable. Jon Hamilton talks to Emily about the sisters and how all three have found ways to help scientists trying to develop treatments for the disease. Thoughts or comments? Get in touch — we're on Twitter @NPRShortWave and on email at [e-mail] pcm.adswizz.com for information about our collection and use of personal data for sponsorship and to manage your podcast sponsorship preferences.NPR Privacy Policy

You're listening to Shortwave from NPR. Hello, resident brain guide John Hamilton or J.J. Hammer, as producer Rebecca Ramirez, likes to call you. How are you today? Emily, I am too legit to quit. Wow. Wow. That reference so dates me. Who wrote that one? Anyway, I am fine. And I am here today to bring you a story that took me like seven years to finish. Seven years. This is the kind of journal. I really respect, John. What did you report on? So you know that I cover Alzheimer's disease, and usually I'm doing stories about what causes it or about some new approach to treatment, but I also report on how the disease affects people who get it, you know, and their families.

I kind of think that's important because Alzheimer's is really unlike most other fatal diseases. It doesn't just kill you. You know, it can gradually destroy these areas of the brain that make you who you are. Yeah. So back in 2015, I met these two sisters from a family that is at high risk for what's called early onset Alzheimer's. It's driven by these gene mutations that can cause the disease to show up sometime in middle age. So depending on the exact mutation you get, that can mean in your early 30s or as late as your early 60s. Wow, that's a long span of time. How did you meet these sisters? It was at a meeting for people who have this genetic condition. And I met Karen in June there and interviewed them, and their story was really touching. You know, sadly, I did a piece, but I wasn't able to include their voices in it.

So as the years kind of went by, I kept thinking about some of the things they told me, about how they had adjusted to or were adjusting to the knowledge that they might be destined to get Alzheimer's, how much they wanted to participate in trials of experimental drugs, how much they cared for each other. And the thing that really stuck with me was how much joy these sisters took in just being together, even when what they were doing was an interview about this awful disease. So this year, I got in touch with Karen and June again. Oh. Yeah, I followed up to see how they were doing.

And how were they? Well, things had changed because in the time since I talked to them first and this time, seven years later, they had both taken a test that would tell them whether they had the gene. mutation that would cause Alzheimer's. So today on the show, we're bringing you John's story on a family figuring out what a genetic legacy means for their lives and those of their loved ones. You're listening to Shortwave, the Daily Science Podcast from NPR. In some families, Alzheimer seems inevitable. 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. The first time I spoke with Karen Douthit was in the summer of two, 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. 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. 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. My chance of being positive is 50-50. So we now have a coin flip of whether or that we're going to be. the world developed Alzheimer's for the time where 62 was kind of a heavy load on the golf course.

June had a different reaction. It was shocking news, but yet there was this element of, oh, so now we finally know what's been going on. Karen and June talked it over with their eldest sisters, Susie Gillum. The sisters were close. They'd grown up together in Swananoa, a town in the Blue Ridge Mountains of North Carolina. So June says they made a decision together. 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.

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 third. family discussion about some forms they had to fill out. You still checked the wrong one.

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. I decided to do gene testing relatively early after that meaning, and I'm negative. The middle sister, June, went next. In March of 2016, I decided I was ready to do genetic testing just because 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. For years, the eldest sister, Susie, had chosen not to find out whether she carried the gene. I asked my husband and my two

children, and everybody said that just as soon not know. Eventually, though, their views changed. And in March, Susie discovered that she is also positive. the next morning I was wallowing and 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 a 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 then poof, it's gone. And with it, my worries. 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 lead you feeling helpless the way Alzheimer's does. 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. Karen knows that her sisters, now in their 60s, could develop symptoms at any

She says that we'll be devastating for her family, which dotes on Susie and June. We have a really large family, and they are the most beloved. We call them marshmallows, because 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. 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. 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. 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. 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.

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 not make too many faux pos and there are people in their 30s here that are struggling already. 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. 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. Susie likes that idea. So does June.

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 help us find our way back home. John, just the relationship between these sisters is, it's beautiful. And it's even more inspiring. that they're willing to be so open about their story? Because it's contributing to our collective understanding of what Alzheimer's is and how it works, right? Yeah, I mean, their story, as sad as it is, is amazingly kind of uplifting. You listen to them and you kind of can't help but come away feeling really positive about the world.

I should mention that the research they're involved in is part of this large study run by scientists at Washington University in St. Louis. As we all know, there is no treatment that can stop Alzheimer's, but they'll be trying some treatments that might. And also later this year, I'll be reporting on scientists who are trying some of these new approaches, things like preventing inflammation in the brain, inflammation that is associated with Alzheimer's. But I'm also planning to do more stories about people who have this disease. Right now, there are about 6 million people living with Alzheimer's, and unfortunately, that number is more than likely to double by 2050. John, thank you so much for coming on the show and sharing the story of this family. My pleasure, Emily. This story was edited by Giselle Grayson and produced by Rebecca Ramirez, Claudeauette Lindsay Haberman, and Chad Campbell.

Giselle Grayson and John Hamilton also checked the facts. I'm Emily Kwong. Thanks for listening to Shorewave, Daily Science Podcast, from... NPR.