Marva: Right now I have it in the back of my mind that there's this genetic possibility that I could develop dementia. But having that test result and knowing that I am predisposed to developing it at some point in time, I think that would probably be difficult to get past or to put to the back of my mind. I think things would move to the forefront. Allison: That's Marva Walsh Smart. Like many of us, Marva lives with a knowledge that she and her family may have a genetic risk for dementia. And like more and more of us, she's taking action to reduce that risk. You'll meet Marva in a moment. Jay: Welcome to Defy Dementia. A podcast for anyone who has a brain. Allison: Defy Dementia is all about living in ways that keep your brain healthy and reduce your risk of dementia because dementia is not predestined by our genes. Genetics can play a role, but lifestyle factors like hearing loss and air pollution are also very important. Jay: Scientists are saying that if we make healthy changes to those lifestyle risk factors, we could reduce dementia cases worldwide by as much as 40%. Allison: And today on the show, we're going to drill down on that genetic risk by asking some key questions. Questions like, if we have a blood relative who's been handed a diagnosis of dementia, what does that really mean for us? And importantly, what can we do about it? Jay: I'm Jay Ingram. I'm a science writer and broadcaster, and I've been writing and speaking about dementia for more than a quarter-century. Allison: And I'm Allison Sekuler, President and Chief Scientist at the Baycrest Academy for Research and Education, and the Center for Aging and Brain Health Innovation. Jay: Join us as we Defy Dementia because you're never too young or too old to take care of your brain. Allison: So Jay, we've talked a bit about the risk of dementia in families on the show before and our own genetic risks. So as you know, my grandmothers both had dementia at some stage of their lives, and you've got a family history as well. Jay: I do, Allison, and you and I can't help but be interested in the genetics of dementia as a result. You know how we say in every episode of Defy Dementia that yes, genetics plays a role, but at least 40% of the overall risk for dementia is due to all those lifestyle factors we've been talking about. And that's true. That does still leave 60% though. Aging is a significant part of that. People always say aging is the greatest risk factor for dementia. But genes do play an important role too, not normal genes, but genes that have undergone a mutation, an alteration that changes what they make in the brain. And in turn, those abnormal products damage other processes in the brain and you get a kind of domino effect. And that effect travels different routes in different dementias. But in the end, the signaling cells in our brains, the neurons are damaged and die. Dementia is the result but genes can be the starting point. Allison: And today on the show, we've got expert insight into genetic risk. Our guest is a doctor who works on the front line at a clinic in Ontario that evaluates people for possible dementia and then makes diagnoses. And she also counsels the family on the possible familial risk for dementia. Jay: But first, a real life story about living with and managing genetic risk. Allison: Marva Walsh Smart is a 54-year-old from Brampton, Ontario. She's a customer success manager with a background in human resources and benefits, and she's also a wife, a mom, and a volunteer care partner at the Alzheimer's Society of Canada. Marva is the youngest of six children born in Birmingham, England to a Jamaican mother and a Dominican father. And the family moved to Canada when she was young so that they could seek a better life. Three years after coming here when Marva was just nine, her dad died from a heart attack leaving her mom, Ethel Walsh to raise all of the kids on her own. Ethel worked as a healthcare aide in a long-term care home for more than two decades. Jay: But in 2011, Ethel was diagnosed with Lewy body dementia, the second most common form of dementia after Alzheimer's disease and Marva's life took a turn. Marva became her mother's primary caregiver at the same time as balancing a career, her marriage and being a mother to a toddler. Her mother died in 2013 due to complications from a stroke. Some background on Lewy body dementia. It's sporadic, but there can be a genetic risk for it in some families. Currently, there's no genetic test for it outside of research settings. Marva is here to talk about living with a genetic risk and how she's taking proactive steps to lower her overall risk. Marva, thank you for helping us defy dementia. Marva: Thanks for having me. Pleasure to be here. Jay: Marva, we want to talk about dealing with genetic risk, but first, could you tell us about your mom and your relationship with her? Marva: Sure. I was the youngest child left at home. I never left home. My mother and I were together always. I like to refer to her as my co-pilot. We went everywhere together. She never learned to drive, and so I was tasked with having to take her wherever she wanted to go. So our relationship was a close one. I learned many things from her. My love of cooking is one of the things that I took away from her. And in addition to that, really just taking the values that she tried to instill within me as well as my siblings. Allison: And when you learned of your mom's diagnosis, did you have any thought about your own genetic risk? Marva: I didn't. I think I was really just trying to navigate the diagnosis itself. So not having a lot of education on dementia and her diagnosis of Lewy body dementia specifically really, it wasn't something that I gave any thought to. Allison: So when did you first start to think about your own genetic risk? Marva: So as I became more educated, I would say, in terms of Alzheimer's, and over the last four years, my father-in-law was diagnosed with dementia, frontotemporal. And at that time I started to think about the genetic risk, not just for myself but my husband, also our daughter as well. So I started to do some more research, take some more proactive measures just to try to improve my health and my well-being overall. Jay: We want to talk about the measures, the proactive measures that you're taking, but do you worry about whatever genetic risk you think you might have? Marva: It's kind of a catch-22 because I try not to worry because I think that would make the situation worse, but it's always in the back of my mind. If I forget where I've left my keys, if I go upstairs and forget why I went up there, I start to wonder, is this the beginnings of something? But then in talking to others, you just realize that everyone has a lot on their mind these days. And so it doesn't necessarily point to that but I think I'm just more mindful. One of the interesting things that I came across was that you don't necessarily know that you have Alzheimer's. It could be developing in the background for a number of years prior to the symptoms surfacing. Allison: So as you've been learning more and thinking about it more, is there anything particular that you and your family are doing to try to reduce your dementia risk? Marva: Yeah, just being more proactive about our eating habits, exercise, just being intentional overall in terms of our health and regular visits to healthcare practitioners, whether it's our doctor, our family doctor, or other practitioners. Like an osteopath for example, is one of my favorites that I do go to on a regular basis just to make sure my overall health is in line. Allison: And in terms of your diet and exercise, what sort of changes have you actually made? Marva: For me personally, I do have less meat so I try to do a meatless Monday. If there is a vegetarian choice, if we're out, I'll usually take that. In terms of exercise, I do have a morning routine so mind, body and spirit is where my day begins. I do a devotional, I meditate, I do a workout, a walk, and just make sure that I have a healthy breakfast, usually starting with a green smoothie. And then with the choices that I make, my family buys into it so they eat more fruits and vegetables. So just making better choices for our plates. Allison: Yeah. I was going to ask about your family, because you were talking about how it is the case that the various dementias start developing well before we see these symptoms that people normally think about as dementia with memory. So are your kids aware that the lifestyle changes that they're making are actually going to help them reduce their risk or is it just something that has become part of their life and it will just help them down the road? Marva: It's just become part of a lifestyle, and we talk about caregiving and we try to set the example for caregiving. But in terms of lifestyle choices at this point in time, it's really just something that we do. Jay: We've said on the podcast more than once that if you adopt a number of lifestyle changes, the kinds of things that you're already doing, that can have as large an effect as any sort of genetic risk that you might have. So doing all of the things that you're doing, has that made you more comfortable with the idea of genetic risk? Marva: Somewhat. I feel like I'm doing as much as I can at this point. I mean, it's not perfect, but I feel that I'm taking steps in the right direction for both myself and my family just to try to be as healthy as possible. Allison: So right now, there's no test for Lewy body dementia outside of research settings, but if a test became available, would you think about taking it? Marva: Likely I wouldn't. Allison: You wouldn't? And why is that? Marva: I think that would be something, if the test was positive, that's something that I'd be carrying around with me. I think it would be a little bit of a weight. So right now, I have it in the back of my mind that there's this genetic possibility that I could develop dementia. But having that test result and knowing that I am predisposed to developing it at some point in time, I think that would probably be difficult to get past or to put to the back of my mind. I think things would move to the forefront. Jay: We really appreciate, Marva that you're sharing this personal information about yourself, with us and with our listeners. Why are you doing this? Marva: I feel that I've come through a journey where I've learned a lot. I feel that we're put here to plant seeds, give back, and to help others. The more that I can do to help, the happier or the more content that makes me feel. Jay: That's a great attitude. We really appreciate, as I said before, you doing this with us. Thanks a lot, Marva. Marva: My pleasure. Thanks for having me. Allison: Marva Walsh Smart is a customer success manager, wife, mom, and a volunteer care partner at the Alzheimer Society of Canada. She's from Brampton, Ontario. Jay: Our next guest has been listening to Marva. Dr Tricia Woo has been talking to people about their genetic risk for dementia for almost two decades. She's a professor of medicine at McMaster University in Hamilton, Ontario, and a pediatrician at the Geras Jira Center. She's a geriatrician at Hamilton Health Sciences, where she evaluates and diagnoses people for dementia. Tricia says she breaks the news of a diagnosis to someone at least once every working day. She also counsels their family members on their possible genetic risk of developing dementia. Tricia Woo joins us from Hamilton. Tricia, thank you very much for joining us on Defy Dementia. Tricia: Thanks for inviting me. It's a pleasure to be here. Jay: Tricia, what struck you about Marva's story? Tricia: Two things really. Number one, Marva is actually very representative of many people out in the community. She's a caregiver. She is what we call a sandwich generation person that is looking after not only older adults in her life, but also looking after young children, young adults, and juggling work. And as a caregiver, it's actually very common for people, such as Marva to be so busy in the job of being a caregiver that they often don't pause to reflect and think about their own health and their own risk factors for any number of disease conditions. The second observation about Marva's story is that when she did pause to think about her life, her risk factors, she was very empowered to make some lifestyle modifications, and she picked a few that made the most sense for her. And then the thing I really like about that is she made it a team sport. It wasn't just her doing it. She involved her family, she involved the healthcare professionals in her life, and when you do it that way, your chances of success and maintaining these lifestyle choices is going to be quite high. Allison: So on Defy Dementia, we've been advising people that these lifestyle changes that you've been talking about can account for at least 40% of dementia risk. How much of that remaining 60% or so is determined or influenced by genes? Tricia: For the vast majority of people, the modifiable risk factors which you mentioned are going to be the bulk of it. Even in the study in the Lancet Commission that did that work, they said the other 60%, they were not entirely sure. For most people, over 95% of the people of the cases that we see, it is sporadic. The genetic link is nebulous at best. Allison: And in terms of that 60%, I mean, people might think, well, it's 40% lifestyle, 60% genes, but you're saying it's not 60% genes. It could be other factors like your age or other kinds of things that are rolled into that. Tricia: Absolutely. Absolutely. The 40% of the modifiable risk factors, the other 60%, we're not entirely sure exactly what that mix is at this point. And some of them may or may not be modifiable. Jay: Tricia, there are some genes that are high risk and some that aren't. If somebody has one of those high risk genes, does that always turn into a dementia diagnosis? And if that's the high risk, can we do anything about it? Tricia: Yeah, so in order to answer that question, we first have to take a step back and say, "What is genetic risk? What does that term mean?" And genetic risk refers to the likelihood or the probability of developing a particular disease based on an individual's genetic makeup. And genetic risk comes from variations in our DNA known as genetic variants or mutations, and these influence your susceptibility to certain disease conditions. Now, some of these variations you inherit from your parents and some of them occur spontaneously. In order to answer your question about genetic risk and dementia, most of the genes that have been identified so far that have been associated with risk have been shown to be modified in their expression through lifestyle modifications. So even if you have so-called genetic risk genes, it does not mean that you are going to have clinical symptoms consistent with the dementia. They've done twin studies where even twins with similar genetic backgrounds, it is not an absolute indicator of disease expression. Allison: Can you talk a little bit more about how you can have a gene, but sometimes people might've heard that a gene is turned on or turned off? What does that mean, and how do you have a gene, twins, one has it, one doesn't, one ends up with dementia, one doesn't? How does that all work? Tricia: Yeah. So the other sort of basic concept in genetics, one is the genetic risk, which we talked about. The other is what we call a causal link, and that refers to a direct cause and effect relationship between a genetic variant and establishing a disease. For dementia, there are very, very small number of causal link genes. They're very rare, less than 5% of cases. Most of the time they're sporadic or spontaneous cases. There may be some people that have genetic risk genes, but either the genes are not fully expressed in this particular person or the person has done lifestyle modifications to mitigate or balance out that risk on their own. So again, disease expression does not occur. Allison: Take us into your office. Pretend like we're coming in for a consultation. How does the subject of genetic risk in families come up? Tricia: Usually for the first consultation, the person who is the center of attention is usually a center of attention for the entire visit. And just getting to know that person and getting to know what their diagnosis means is the first job. Sometimes on second visits or third visits, once the diagnosis has been explained to the person and their family, the families start to have then questions. So it often comes up at the second or third visit, "What about my risk? What does this mean for me?" Because the first visit, they're often just dealing with the facts at hand. And when we talk to families, we often tell them that the vast majority of cases occur in people over age 65 and age is one of our biggest risk factors. Then we talk about the fact that most of the cases are sporadic and not directly genetically inherited. Then I try to empower people and say, "You know what, it's never too early and never too late to make changes, both for the person themselves, but also their family members." And we go through the general lifestyle modifications, and sometimes we do targeted ones, things that have been picked up in the conversation or the initial consultation, and we give them very specific concrete advice. And again, as in the case with Marva, if you're dealing it in a team fashion, if you're doing it as a family, it makes sense and it can be somewhat reassuring and empowering to both the patient and their family. Jay: So besides advising people on lifestyle modifications, if people are really, really interested in getting a genetic test, what do you tell them? Tricia: If they're very interested in genetic test, I would sort of ask them, "Well, what would you do with this information? How would this impact you?" Because sometimes the driving motivation is simply wanting to know. And if that's the case, then we talk about how often genetics plays a direct role, which is not very often, and the fact that it likely would not impact their day-to-day living. Knowing if you have a gene or don't have a gene does not give you a complete peace of mind and may lead to worries and concerns. The only time I would really recommend consideration of genetic testing is in those rare cases where you do suspect a very strong familial link in young onset or unusual cases, so persons that are very young, persons in the thirties and forties and your entire family is being affected. Those are the only cases where we'd really have a more in-depth discussion. Jay: Tricia, you mentioned young onset dementia would be kind of a flashing light for you to maybe think more about genetic testing. Why is that? Tricia: Because younger onset, particularly very young onset, there may be more of a genetic predisposition. But again, even in those cases, you talk with the person that is in front of you as well as their family and say, "Would this change your management? Or how would this change your management?" Because again, even in younger onset, if it's not going to change the lifestyle modifications that you're going to be doing or change your outlook, then again, we may not proceed with that. Allison: And in those cases, even when there's that very strong link, I think you said that even in those cases, lifestyle changes can mitigate the risk to some extent. And one of the themes that we've talked about a lot here on Defy Dementia has been, we can advise people to make positive lifestyle changes, but how do you make sure that they actually follow through? So you mentioned working as a team is one way, but what else do you say to people to ensure that they will take action to make those healthy changes? Tricia: So number one, I always say do as a team. Number two, we go through their particular history and we pick out actionable items. We're not going to make people run a marathon and eat carrot sticks and very extreme things. Pick one or two things that you can fit into your lifestyle that are modifiable. So for example, some people when they're over age 65, they may have hearing impairment. And we do know that if you have hearing impairment, getting hearing aids or other implementation to sort of mitigate that has a pretty good impact. For some people, it's exercise. Everything else seems to be fine. You pick that one thing, you're just not moving quite enough. Again, setting realistic expectations and saying, "Whatever it is that you're doing, do more." Find something that brings you joy, because then you can also take off more than one modifiable risk factor. If you do activities that you enjoy with other people, you'll get the exercise and reducing social isolation and improving your mood. So you tick multiple boxes by doing one thing. And just to make it part of your life and that's why I really appreciate what Marva did that she made it part of her lifestyle. Allison: That's what we called the mixed bag in some of our previous episodes, and one of our guests called it the Scrabble triple word score because you get sort of multiple points all for one. Tricia: Yep. You want to work smart, not hard. Jay: Now, you're dealing with information with people who come to see you that is, they're anxious, it has real significance, and it may be tough for them. I'd like to know how that aspect of your job affects you. Tricia: Well, I've been doing for many years, as you've already alluded to, so I think I've gotten quite comfortable with that. But I think the thing that makes me very engaged in my day-to-day job is I see them as a whole person. I love stories. And let me tell you, most of my patient population, they have the best stories, and I get to connect with them at a human level first, and I get to know them as a person. Now I just know them as a person with an additional diagnosis. And when you see them as a total person and they see that, you see them as a total person, as a holistic entity, it gives them joy. I had a lady in clinic yesterday who does have Alzheimer's type dementia, but she had also recently gone to Scotland, and we had a wonderful time talking about what she had done and what she'd seen. And even if she didn't remember all the details, that feeling was still there. As a side note, I also got some travel tips, so that genuinely brings me joy. And so you can find joy in these small moments because I think the other thing is I also enjoy it when I see many people coming in with their family, they're surrounded by their children and their grandchildren. Sometimes there aren't even enough chairs in the room because there's so many people. And I feel good about that because I know that person is loved and does love and is well-supported. So that brings me joy. Allison: So Tricia, you've been doing this job for almost two decades, and it's great to see how you've evolved in the way you interact with patients over time. Have you noticed any changes in the questions that people are asking you? Tricia: Yes, absolutely. I think because there's so much information out there that's available now, I'm finding that both patients as well as their families are very empowered. They are often coming and they already pretty much know. One of the questions I ask them in clinic is like, "Are you surprised by this diagnosis?" And you get the occasional person who is surprised, but many people, the family like, "No, we pretty much knew," and they're asking smart questions, informed questions. Some people are already plugged into community supports already doing a lot of things that I would've told them and so I find that very rewarding because that means that society in general is paying attention. The level of questions that are coming at me now are very specific and very thoughtful and reflective. We don't have to do one-on-one sometimes. Most of the time it's like two-on-one or three-on-one. "Okay, how can we do this? How can we do that?" "Hey, I heard about this new thing that's coming down the pipeline. What about this?" And it's a fun conversation and a very empowering conversation. Allison: Yeah, and I have to say thank you Tricia, for giving us such an empowering and thoughtful conversation here. I found it incredibly hopeful and inspiring, so thank you so much for joining us. Tricia: Thank you. It's been an absolute pleasure. Jay: Dr Tricia Woo is a professor of medicine at McMaster University, a researcher at the Geras Center and a geriatrician at Hamilton Health Sciences. She joined us from Hamilton, Ontario. So Allison two really, really interesting guests. What are your thoughts about what they told us? Allison: Well, I think first Marva was marvelous, but I think that one of the things she did that really impressed me was to treat the changes she was making in her life, as we heard from Tricia, as a team sport. I think that made such a big difference in her ability to make those changes in her life. How about you? Jay: Something Tricia said really, really struck me, and that is she downplayed the role of genes, not unrealistically, but she just pointed out that while everybody seems to have genetic risk uppermost in their minds, and we've found that whenever we've taken Defy Dementia on the road, I've certainly noticed that, and I'm sure you have whenever you talk to people. And she made it clear that yes, it can be a factor in certain situations, but even if it's a potential factor, it can be overridden, if that's the right word. You can override it by doing the lifestyle factors that we've been talking about. But she was just so strong on that that it made a big impression on me. Anyway, both of them really impressive. Allison: Even with the young onset dementia, which she said is sort of where there might be the biggest link to the gene. She said you can mitigate that with lifestyle factors. Having those genes doesn't mean that you're predestined to get dementia, as we've said many, many times. The other thing I found really inspiring about Tricia was just the way that she approached her clients and her patients and this holistic approach she talked about, and realizing that a diagnosis of dementia does not define someone. So you can defy dementia, but you're not defined by dementia. Jay: That's a nice line, Allison. To find out more about how you can reduce the risk of dementia or slow its progression, please visit us at defydementia.org. Allison: There you can check out all of the episodes of the podcast as well as our videos, infographics, and other resources. Jay: Our podcast production team is Rosanne Aleong, Sylvain Dubroqua, Chase producer is Ben Schaub. Production is by Podtex, music by Steve Dodd. Our cover art is by Amanda Forbis and Wendy Tilby. Allison: And a big thank you to the Center for Aging and Brain Health Innovation, otherwise known as CABHI and Baycrest for their support of this podcast. Jay: Your support is greatly appreciated too, so please hit that subscribe button for Defy Dementia on Spotify, Apple Podcasts, Google Podcasts, or wherever you get your podcasts. Allison: Be sure to join us for the next episode of Defy Dementia. We'll be talking about the elevated risk for dementia faced by women, and we'll explore why women comprise two-thirds of all dementia cases and what we might be able to do to lower that risk. I'm Allison Sekuler. Jay: I'm Jay Ingram. Thank you for listening to Defy Dementia. And don't forget you're never too young or too old to take care of your brain.