The Current - New research into a genetic heart condition is fuelling hope for a cure

Episode Date: March 25, 2025

When Phillip Winter found out he had a genetic variant that can cause sudden cardiac events and death, he felt like a “dead man walking.” But new research into the variant, known as the Newfoundland Curse for its prevalence there, makes him hopeful that he might someday overcome that curse. Winter, his dad and a researcher discuss the new findings fuelling their hope.

In Scarborough, there's this fire behind our eyes. A passion in our bellies. It's in the hearts of our neighbors. The eyes of our nurses. And the hands of our doctors. It's what makes Scarborough, Scarborough. In our hospitals, we do more than anyone thought possible. We've less than anyone could imagine.

But it's time to imagine what we can do with more. Join Scarborough Health Network and together, we can turn grit into greatness. Donate at lovescarborough.ca. This is a CBC podcast. Hello, I'm Matt Galloway, and this is The Current Podcast. Chad Pelly knew it was possible he could have the Newfoundland curse.

My father had the blood test, I had the blood test, my brother had the blood test, and we found out that we had it. ARVC, or Arithmogenic Right Ventricular Cardiomyopathy, is a genetic disease that causes your heart to flutter uncontrollably and can lead to sudden and early death. It's sometimes called the Newfoundland curse because of its prominence in the province. Chad and many others with ARVC have defibrillators surgically implanted in

their bodies but Chad may end up needing a heart transplant. That happened to my father who had to have a heart transplant and other people in my family so I know that that's potentially in my future. Men are 80% more likely to die early from ARVC than women and carriers have a 50% chance of passing it down to their kids. In a moment, we'll hear about promising research from Cathy Hodgkinson, a professor of medicine at Memorial University in St. John's. But first, Corey Winter and his son Philip both live with ARVC.

They're in Gander, Newfoundland and Labrador. Good morning to you both. Good morning. Good morning. Corey, let me start with you. Just give us a sense for folks like me who don't understand this disease, what does it do to your body? I guess it starts off with an arrhythmogenic problem that it caused an irregular beat that

puts your heart in a fibrillation and essentially you can die from the first incident. But what does that feel like? That's tough to describe really how a defibrillator goes off, and I hate to paint a bad picture because it saves your life. So it's difficult to describe how it feels. You know, the reality of it is once you live through that, the disease actually causes your heart to fail because it gets enlarged. And that's where it ends up, right?

And Corey, your cousin Elvis died a year before you were diagnosed. What was the impact of that when you heard about that? In distant family that passed away. And if you understood my family dynamic, my mother's side of the family is huge. My father's side of the family was huge. So, you know, I have many cousins and second cousins and all that. I wouldn't even be able to give you their names. But Elvis was the closest one to me that passed away with the heart problem. We were close to the same age. I think Elvis might have been a year older than me. But yeah, so that one hit really close to home and Elvis was a very healthy man he was he was he was

well-built and and yeah nobody would have ever taken him to for somebody have heart troubles. So how did you feel then after his death when then you were diagnosed? When I was diagnosed it's a little bit strange to understand maybe, but I think there was a sense of relief really. Why is that? Well, the relief came, you know, because, you know, I had grown up, I was hearing about family members that just suddenly passed away. And there was never a diagnosis other than after they were dead, they said it was heart

related. So when I was diagnosed with the disease, and there was a doctor who had a plan and wanted to work through some you know different trials or whatever you know that was a way better diagnosis than anybody else had gotten. Let's bring in your son Philip. Philip when did you find out you carried the gene for ARVC? So I found out that I carried the gene, I think it was the summer after grade 9 going into grade 10. You know, big changes happening in my life, getting ready for high school, and I was a big athlete, so high school sports and things like that.

It was quite a shock to see that my life kind of had to take a different direction than I had planned and kind of take a step back from, you know, the hockey and sports like that to try and focus on things that weren't going to be so hard on my on my body. And that's what you were told is just to avoid any, you know, heavy activities? Yeah, basically just do whatever I can to avoid, you know, rapid spikes in my heart rate and allow my heart rate get too high. And how did that make you feel though, knowing that you were carrying this disease? You knew now that this was part of your family history.

Some people have said, have described people who carry this as the walking dead, which is kind of a cruel way of looking at it. But how did you feel, especially as a youngster? I think I deal with it a lot better now than I did when I was originally diagnosed. I think at first I felt like that, I guess. I felt like a dead man walk and I felt like I was going to end up on the same path that dad ended up sick in the hospital and having to deal with a heart transplant and all of those things.

But I think now seeing the research and seeing things come so far, I don't necessarily feel like that so much. I kind of feel like I'm excited to see where, you know, Cathy and the people doing the research can take this. And I'm hopeful about it now. Yeah, and there's a lot of hope out there. And we'll get to that in a sec. Corey, I want to go, you mentioned off the top about a defibrillator. I mean

you had a defibrillator implanted in you and that's really saved your life on many occasions. Tell us about that. You've had some close calls. I have, yes. When I first met Dr. Connors he had just, I think he was just basically getting set up in the health science when I met with him and Kathy. And, you know, they did at that time, there was no, no gene defined. It was nothing like that. So through a bunch of tests, they figured I was at high risk. And, you know, they gave me an option of medication to try to control my heart rate or defibrillator

because, you know, you got to understand that this time it it was it was very early with this disease and finding a treatment so I handed the defibrillator implanted in in December I think you know there was a little bit of a spooky time from the time they they told me I had it and they put one on order and I went home and it was I don't know if it was a week or two weeks later before I went back in for the day surgery to get it implanted. That was the first time I had a shock and I was working, I was a forestry worker, I was probably, I don't know, a hundred kilometers up in the wilderness. And when you say a shock, what you're talking about is it's giving you a jolt of electricity to save your life. That's right. When they analyzed my defibrillator,

and the technology was different than, like, Philip has an implant of defibrillator now, and his downloads are reading every night. But at that time, I had to go to St. John's to get the information read from my defibrillator. And basically, what they seen is I went from a normal rhythm right into ventricular fibrillation. And it was like, I don't know, it was 400 or 500 beats a minute type thing was what last thing it recorded.

So if I didn't get that shock then I would have been dead then. Philip what were your treatment options and what are you doing now? I suppose I didn't really have many options. I'm taking a medication, it's a beta blocker, just to try and eliminate the spikes of heart rate and slow the adrenaline down, slow the heart rate down, and the implanted defibrillator. Other than that, just kind of wait and hope for something to come out of it. How does ARBC impact your day-to-day life now? Really, I just need to watch what I'm doing.

I always try to keep a smartwatch on, keep track of my heart rate, make sure I'm not getting up too high. In regards to exercise, trying to do more low-impact stuff, lock instead of run type deal. Through work, having to mind extra hazards, I guess, when it comes to having a defibrillator involved and Philip tell me about what the fact that you and your dad both have This what has this done your relationship? I think big time it it's I mean it's made us a lot closer for sure I mean he's he's the only one that I really have to relate to in my everyday life With this disease the only one other one that knows what it's like in my everyday life with this disease, the only other one that knows what it's like. I think when I was diagnosed, it was probably the first one, probably the first time I've ever seen dad cry and that was a big impact on a young kid, you know.

Corey, do you remember that conversation and tell me about the impact it took on you when you had to share this with your son? It was a day I didn't look forward to. Hmm. Did you see it coming? I guess I was always hopeful, but yeah, I did. And I know it's got to be tough for you to talk about it, but at the same time, you're both wonderful living examples of how you can live with this. Corey, why do you think it's important to talk about this? Well, keep the research going, keep people getting monitored. You know, the work that

Cathy and her team has done is amazing really. And it started, you know, long before I was diagnosed, and it's of course still going on and they've come so far with it, right? Philip, you know, this thing is being called the Newfoundland curse and I know you're regulating your lifestyle accordingly, but what's it like living with a curse? It's interesting really, you know, a lot of people don't understand it when you tell other people about it, you know, people feel like it should have a much larger effect on my life and a much larger effect on my mental health.

And I'm not saying that it doesn't, but I'm just, I kind of learned to live with it and learned to accept the fact that I'm one of the few that are affected by this. And I'm just hoping that it doesn't carry on and pass down through my strain of the family now. Yeah, I wanted to ask you about that. Phillip, you've got kids of your own? I do, yeah. I have a four-year-old and a two-year-old right now.

And my wife's currently pregnant with twins. Wow. Congratulations. Thank you. and my wife's currently pregnant with twins. Wow, congratulations. Thank you. So how do you plan on navigating this genetic disease then with your own family? I think I'm gonna follow mom and dad's example with it.

I mean, they didn't have as much knowledge towards it as we do now, but I think that the way they went about it with me, they waited until I was a little bit older to get me tested and I really appreciate that. It didn't affect me when I was young and if I had known that I had this gene and stuff like that when I was young, I would have had a big effect on the way I grew up. But I'm glad it didn't. I'm glad I got to be a kid for so long before it got to the point that it would affect me.

And at what point, Philip, will you have to test your own kids to see if they're carrying this gene? I think I'm going to wait probably around until my parents did, until around grade 9, grade 10, that kind of area around high school. Let them live a normal life as long as possible I mean and right now I have two girls right now and I have one one girl and one boy on the way So it's it's not likely to affect the girls as heavily as it is the boys So, you know wait for as long as possible with them and you're okay to wait Just knowing with that uncertainty that that's out there 100% 100% I that uncertainty that that's out there? 100%.

100%. I think that it's better to live your childhood. Obviously I'm going to constantly worry about it. I'm going to constantly monitor it. But I do think that they deserve to live normally before it gets to the point that this disease could affect their lives. Kory, we're about to speak with researcher Kathy Hodgkinson who you both know.

How does it feel knowing that this disease that's been part of your family story for so long is getting not just attention, but potentially a cure down the line? It's great and it's been ebbs and flows since it started. You know, there's, when I'm still recovering from my transplant, I remember getting a call from Cathy and I think it was Dr. Terry Young and they were ecstatic. That was when they had originally found the gene, which meant my boys could actually just

with blood work be told if they had it or not, right? So you know, there's been so many highs and lows and on the lows the research hasn't slowed down or stopped. It's just been the big breaks, the big announcements that have changed, right? And, you know, I think all the work they've been doing is amazing and like I said, I got to go back to the work with Kathy started, you know, I know her and mom made contact probably when I was 11 or 12 years old. And that was followed all the way up through, right?

So yeah, it's been a long process. And I mean, if you take where I came from to where Philip is now, and my grandchildren will hopefully never have to have a defibrillator, that's the goal. And that's why I've signed up for every bit of questions, every bit of research, you know, whatever they could do, right? And when you see Philip with his young family now, you're feeling more optimistic that they can overcome this curse? The worry is there, but I think the optimism, I weigh the worry a lot of times.

All right, let's hope the worry a lot of times. All right. Let's hope for the best for you all. Yeah. Thanks so much for speaking with us today, guys. Oh, you're welcome. Thank you. Corey and Philip Winter, our father and son, both diagnosed with a genetic disease called ARVC, also known as the Newfoundland Curse.

In Scarborough, there's this fire behind our eyes. A passion in our bellies. It's in the hearts of our neighbors. The eyes of our nurses. And the hands of our doctors. It's what makes Scarborough, Scarborough. In our hospitals, we do more than anyone thought possible. We've less than anyone could imagine.

But it's time to imagine what we can do with more. Join Scarborough Health Network and together, we can turn grit into greatness. Donate at lovescarborough.ca. At Desjardins, we speak business. We speak equipment modernization. We're fluent in data digitization and expansion into foreign markets. And we can talk all day about streamlining manufacturing processes.

Because at Desjardins Business, we speak the same language you do, business. So join the more than 400,000 Canadian entrepreneurs who already count on us and contact Desjardins today. We'd love to talk business. As I mentioned earlier, there has been promising research into ARVC and there's hope for an eventual cure. Cathy Hodgkinson is a professor of medicine at Memorial University in St. John's, Newfoundland. She co-leads the team researching ARVC.

Cathy, good morning. Good morning. Thank you very much for having me on. Well, thank you for joining us. Let's unpack that conversation with the guys. I know you know them well. It's a heck of a story. How does it feel when you hear about their optimism in the face of the situation? It's amazing. I have known Corey and his family since 1996, I think. And I remember the first

time I met them, his children are the same age as my children. You know, we've literally spent the last 25 years knowing of each other. Corey and his family are phenomenal. Corey's mum is unbelievable. She's the one who literally brought him to attention in the first place, so that we could actually bring him in and test him. And that was the reason he had his defibrillator. Corey is actually the first person that Dr. Connors put a defibrillator in for this disease in Newfoundland. So this goes back a long way. And I think it illustrates that this type of research really isn't bounded by short time periods.

It continues. And that's because this disease goes across generations. And we need to know more about it because every little piece we know impacts how we are going to manage or how we treat the disease. And Corey's family, like many, many other families in Newfoundland, have been stalwart supporters of the research from day one. As we mentioned, it's often called the Newfoundland curse. Why is it prevalent in the province? I think that that's just because Newfoundland is a genetic isolate.

So Newfoundland's founder population really started from 20 to 30,000 people, the non-Indigenous population, the moved in population, and they brought only certain genes with them. So whilst we have potentially a lot of this disease, there's lots of diseases we don't have any of really, very, very low numbers. So it's not that Newfoundland and Labrador has lots of every disease, it has lots of some and that really just depended on the people who arrived in the first place. And obviously detecting this early is critical. How has the diagnostic process evolved over time?

The diagnostic process now is a gene test, particularly for young men. So, previously you would have had to show a sign or a symptom and sadly, your first sign or symptom might have been death. So now it's a blood test. Now you're in a family, you're at 50% risk. We do a blood test, we say, did you inherit that little single letter change or did you inherit the normal letter at that position? And if you've got the normal one, then you don't need to worry because you don't have this. And if you got the change, if you're a male, you will receive an ICD in your late teens. And if you're a female, you'll receive an ICD anytime on from the late teens, depending

on what your cardiac tests are showing. I thought it was interesting listening to Corey and Philip describe their story and their journey about waiting until the right time to get a test and then obviously sharing that information if it proves to be positive. What are the ethics about when people should get the test and when that information should be conveyed to a patient? Well, as with most genetic conditions, this is a relationship that occurs between the caregivers and the families.

Families usually know their own family and usually want to make absolutely the right decision for them. And what's the right decision for one family won't necessarily be the right decision for another. We have changed our policy recently to test children earlier, only because of the exercise issue. So for some people, testing children earlier

allows them to make a decision about whether a child will, you know, what sort of exercise that child will do, trying to sort of move them into possibly not soccer, not hockey, but other types of exercise that raise the heart rate quite as much. But with, you know, with for each family, they will make the decision that is right for them. We, you know, certainly getting a genetic test before you need an ICD would certainly be the right thing to do, which I think Corey and his family are absolutely following.

And you mentioned there's still so much to learn about this disease. But what gives you hope right now that you're moving in the direction of a cure? Well, the hope comes from colleagues in Newfoundland and Labrador, so Jessica Esselstyn, who is doing the induced pluripotent stem cell work. And in fact, you know, Corey is a part of that research project too, where you take a skin sample from individuals and you turn those cells into stem cells and you push them forward into cardiomyocytes, and then you can crisper in or crisper out the mutation as you see fit in the laboratory. So you can

actually add the change or take away the change because we can gene edit and see what happens and you can treat cells in a Petri dish, You can do all sorts of things in a laboratory. So that's really exciting and that's Jessica's work that she has started and is moving forward with leaps and bounds. So that really is the most exciting forward motion. But around the world, there are people, we have colleagues in Northern Europe, because this particular genetic change occurs there in Denmark and Germany and Norway and Russia, they have exactly the same variants, the same

Tm-EM43 variants, and it's indeed exactly the same one, because all our families are related to those families. We've got lots of colleagues out there who are also doing this sort of work. There's a large international consortium on ACM that is pulling together information that will hopefully mean that anywhere in the world you can go to the new guidelines and say okay which gene is involved, which variant in that gene, what do I do now. You do it based on the gene that's involved and that has a change. And that is so important because they're not all the same. So that, I think, has been really exciting. And that includes colleagues from across Canada, all the EP specialists and genetic specialists,

and across Europe and North America. Yeah, so that's exciting. Well, let's end on this notion of hope and hope for the people who have it and the people who may be soon detected with having it. Cathy, thank you so much for speaking with us today. Well, you are welcome. Have a good rest of the day. Thank you.

Cathy Hodgkinson is a professor of medicine at Memorial University in St. John's, New foundland. For more CBC podcasts, go to cbc.ca slash podcasts.