Paula Trefiak - Everything In My Power

“I am now proving this disease is treatable.”

75% of Paula's extended family on her father's side is affected by familial ALS. Diagnosed in 2016, Paula has found life-saving treatment in the form of Tofersen, the first gene specific ALS therapy. She now works in advocacy at provincial, national, and global levels to develop expedited pathways in the drug approval process, striving for a future where ALS patients can access treatment before their lives are taken. Join us as we discuss growing up around ALS, participating in clinical trials, and the importance of advocacy. 

To participate in ALS Canada's Cost of ALS Survey, visit https://legeropinion.co/2026-Cost-of-ALS

For more information on Tofersen, visit https://www.als.org/navigating-als/living-with-als/fda-approved-drugs/tofersen

For more information on CAPTURE ALS, visit https://captureals.ca/

For more information on the Global CRLI program, run by the International Alliance of ALS/MND, visit https://www.als-mnd.org/events-programs/alliance-academy/crli-2025/

And for more information on ALS, visit https://als.ca/

If you'd like to share your story on the show, or have ideas for what you'd like to hear us speak about next, send us an email at originals.morethanals@gmail.com. We'd love to hear from you!

Episode Transcript

Episode Reference List

Transcript

Flynn 0:00

This podcast is recorded and produced in the township of Tiny, Ontario, on the traditional lands of the Huron-Wendat Nation and the Anishnabik people.

Hayley 0:08

We want to thank the Indigenous people for their past and present stewardship of these lands and waterways, and look to their wisdom to guide us toward a future of harmony and good health for all beings that call Turtle Island home.

Pamela (Paula's friend) 0:23

Genuinely cares about the people around her.

Terry (Paula's friend) 0:23

She's been a powerful advocate around the world.

Pamela (Paula's friend) 0:24

 Passionate, resilient, and driven to make a difference.

Terry (Paula's friend) 0:24

 Puts the Energizer Bunny to shame.

Flynn 0:38

Welcome back to Originals More Than ALS, the show where we highlight the lives and experiences of the ALS community to spread awareness, education, and hope. I am one of your hosts, Flynn Mason.

Hayley 0:49

And I'm the other host, Hayley King.

Flynn 0:51

Today we are joined by Paula Trefiak, a fierce advocate of ALS research dedicated to developing national and global strategies to increase access to effective treatments for pALS the world over. Contrary to the experiences of our guests so far, ALS has always been a discussion at the table in Paula's life. Much of Paula's extended family on her father's side has been directly affected by ALS, extending all the way back to Paula's childhood and before. It was shortly after her father's passing in 2009 that Paula began experiencing ALS symptoms of her own. And in early 2016, Paula was officially diagnosed with ALS caused by the SOD-1 gene variant, responsible for 10 to 20% of all familial ALS cases. Since Paula's diagnosis, her dedication to moving the needle forward for ALS research has been relentless. She participated in the Phase 1B clinical trial, open label extension, and special access program for Tofersen or Qalsody, the first gene-specific therapy for ALS. She's completed the NEALS Clinical Research Learning Institute in the United States, later using that education to help develop the CALI program here in Canada. Paula has advocated for changes to Canada's drug approval pathway, helped develop the ALS Gene Hub for resources for familial ALS, and contributed to proposals that led to the hiring of an ALS Genetics Counselor in Canada, which is a global first. Paula serves on ALS Canada's Scientific and Medical Advisory Council, as well as the International Alliance of ALS/ MND's pALS and cALS Committee, even representing the Alliance at the Fight MND Global Roundtable. A strong believer in generational advocacy and lived experience as expertise, Paula is a champion for her community, and we're very lucky to have her on the show today. Thank you so much for joining us, Paula.

Paula 2:34

Thank you so much for having me, Flynn and Hayley. It's an honor.

Flynn 2:38

We're gonna start by talking a little bit about the experience that you had with your family growing up. You grew up in a home where ALS was always present. Can you tell me how many of your family members have had ALS?

Paula 2:48

Well, I have had at least 26 members of my family that I know of who have lost their battle with this disease. And currently there's myself, I have two siblings, um, my son is a gene carrier, and I have several cousins across Canada that are currently living with the disease.

Flynn 3:07

And you've remarked that you know learned to walk by pushing family members around in their wheelchairs and learned to read by holding up uh books and newspapers for relatives who could no longer do that on your own. Uh, can you tell us about the first person in your family that you remember seeing with ALS?

Paula 3:24

So even at the time I was born, I had several of my great aunts, including my grandmother, who were already being affected by the disease. I also had several cousins who were affected by the disease. So it was all around me. And in our family, we did have this strong belief that we need to stick together and help each other out. So we were constantly, you know, going and visiting. And to me, it was just a visit to go see, you know, a cousin or an aunt or somebody in the family to help their family out with chores around the house, even just to, you know, be another face in that person's life that was affected by ALS, so that they still had that sense of community, even when getting out of the house was difficult.

Hayley 4:09

When Paula was just six years old, she had five family members pass away from ALS in the span of three months. Though she was too young to fully articulate her feelings, she shared her pain with her friends. It was their parents who told Paula this experience wasn't normal. This isn't how most people grow old and pass away. For the first time, Paula realized how unique her family situation was.

Paula 4:34

And to me, that was shocking. What do you mean this isn't normal? Because this is what I've grown up around. So over the next few years and throughout the rest of my life, I've definitely learned the impact that ALS has on my family, and that they're right, it's not normal. But for for me, that was my normal.

Hayley 4:52

I kind of wondered like living with ALS, how that has affected how you live your life. Because it kind of seems to me that if you have this constant reminder of mortality, that that would influence a person's approach to making life decisions, whether they're big life decisions or even like day-to-day things. Absolutely.

Paula 5:17

I mean, growing up literally affects everything. My family at one point wanted to move into a larger house, but again, ALS was the topic. You know, we're going to need a house that's a single floor. You can't have multiple floors, has to be big enough for a wheelchair. And honestly, when my father started looking, that's really, really hard to find. Houses that can accommodate ALS. And what if there's many of us that end up having ALS and have to move back home with my mom for her to help us? Those are all things that we had to think about. As I was in high school, really wanted to be a physical therapist or a dental hygienist. You know, I loved physical activity. And my father was telling me that, you know, those are great for a short term, but you're going to have to go back to university and get a professional degree because you're not going to be able to use your body for very long. By the time you're 30, you're going to need another job because you won't be able to handle the physical demands. So is it worth your while? Is it worth the money to pour into it? Even picking a partner, you know, my dad at the time when I was uh in my 20s, he was already in a wheelchair or at least in a walker and then progressed to a wheelchair during that period of time. And he wanted to know if our partners were up to the duties of even taking care of him. It was one of those things that if they don't have the respect for me to help me out in my time of need, they're not going to have the respect for you. Dump them. Right? Dad. He was a great dad, yeah. So it was always a topic in my life growing up, and we had to think about things that most other families didn't have to think about.

Flynn 6:49

Paula even became a lifeguard and emergency responder, learning the life-saving skills to help her family members while making some money to put herself through school. Another huge ALS-related consideration in Paula's life was the choice of whether or not to have children. She never specifically planned to have kids for fear of passing on the gene, but life took Paula down a different path. She now has three beautiful children who continue to drive her work in advocacy.

Paula 7:15

There are moments where I cry about it. Yes, I kind of get emotional about it. I don't want them to suffer with it. And so I'm doing everything in my power to help find an effective treatment for them so that they never have to see the things that I've had to see, so that they never have the experiences that my family with ALS have ever had to experience.

Hayley 7:36

Kind of along those lines, if we can just circle back for a second to your dad and the people you brought home as potential partners. Okay, so you you found a a life partner. I did. You got married. And who's your life partner?

Paula 7:50

So my husband is Matthew. And um he my dad was actually his high school science teacher. So my dad was a high school teacher. So he knew my dad. Like my dad would have been affected by ALS at that time, but he was still able to see my dad walking without supports. My dad always had a booming voice. Like at church, you could hear him at the back of the church, no microphone. Like he had a great voice that he could project. And so my husband got to know my dad that way. As you know, a very strong individual. He was a strong advocate as well. Yeah. Later on, he meets me, he meets my dad and was like, oh my gosh, you're my science teacher.

Hayley 8:29

Yeah. Yeah. So your dad kind of had the inside scoop on him from the beginning, anyways, because he was he a good student?

Paula 8:37

He was actually. He was a good student. My husband didn't think he was that great of a student, but as um my dad said, well, you know, you weren't the top of the class, but you also weren't the bottom of the class. So you were a decent student, and that's a good thing.

Hayley 8:50

Yes, yeah, yeah. Not that that's the most important thing, but hey, yeah, he he had a little leg up there because your dad already knew him. So that's awesome. Yeah, very good.

Paula 9:00

Yeah, and by the time my husband actually met me, my father was having difficulty walking.He always refused to use a walker, actually. He would rather use canes or, you know, if we went grocery shopping, he'd support himself on the cart, but he never wanted to be seen with a walker because he felt like he was too young. So we would often have to manually help him in and out of buildings and stuff. It wasn't uh long after I had met my husband that my dad had moved into a wheelchair and at that point needed a lot more care. And my husband was great and stepped up and he knew there was a chance I might end up getting ALS, and we had talked about it. But again, you know, there's that 50-50 chance, 50% chance I don't get it. So you know, he didn't really think of it that seriously at that time.

Hayley 9:44

And I suppose too, like the obviously the decision to have children was the both of you together deciding that.

Paula 9:51

Absolutely. Part of our discussion was, you know, we know we're getting close to finding effective treatments, and the way they're curing cancers today, there might be something and it might not be an issue. So what happens, happens.

Hayley 10:02

That's right. In terms of when we're living our lives, I I mean, you can't really plan for everything that may or may not happen in the future.

Flynn 10:10

Now, I saw you mention, and I think that we spoke about this a little bit in our pre-interview as well, that you were kind of encouraged by your family at different points to not really speak about your experience in terms of ALS outside of the home for fear of facing discrimination. Now, how did that discrimination manifest for your family historically and how has that changed throughout your life?

Paula 10:32

Yeah, before 2017, we didn't have the Anti-Discrimination Act in place, especially for insurance and stuff. Had some of my aunts lose their job because they couldn't accommodate a wheelchair. It's too hard to get you in and out of the building, you know, they couldn't manage the stairs anymore. The one building that my one aunt worked at, you know, there's no elevator. So you're done. My dad was always terrified that his employer would find out. I know he had requested at one point that they would accommodate him with a scooter to get around the school or lifts in the school, and they refused. So, you know, he had his students at the school literally meet him at his car, take him out of the vehicle, put him in his chair, they would carry him up and down stairs. They were the ones actually, you know, helping him to the bathroom while he was at work. And, you know, they would get him at the end of the day, make sure he got into his car safely. We had hand controls put in the car because, you know, he couldn't handle the steering wheel very well anymore or the brake pedals. You know, he'd drive home and one of us would have to meet him at home. Actually, more like two of us would have to meet him to get him out of the car and make sure he got in the house safely.

Hayley 11:40

Wow. That's amazing. Those students, your dad must have been a good teacher. Like obviously, his students loved him.

Paula 11:47

Yeah, and this is at an inner city school, right? Like these kids were in a lot of technical training because you know they weren't gonna make it through university and stuff, and they really did love him. My dad always complained about some of the grade nines might try to play a prank because they're trying to prove themselves at the school. He goes, by the time that kid got to grade 12, he was the one protecting me.

Hayley 12:07

Clearly, Paula's father was incredibly passionate about his career, developing deeply meaningful relationships with his students. After 29 years of teaching, one year on sick leave, and another on disability, he had to leave the field in 2004, passing away just five years later at the age of 56. In addition to his work in education, he was a powerful advocate in his community as chairman of the Regina Zone Board, a member of the Regina City Planning Commission, and part of the Regina Police Citizens Academy. His advocacy was driven by a desire to give the children in his community the skills they needed to succeed on their own, hoping for a future where no child has to grow up in the poverty that he experienced. A man with a strong sense of morality who lived a very full life, he acted as an amazing role model for Paula.

Paula 13:04

I mean, he made mountains move, and I got to see that happen. And yeah, I've taken a lot of the skills that he has taught me. In his, you know, last few years, I was pretty much his personal assistant, helping him out for him continuing his advocacy. And when, you know, he completely lost his voice, didn't have the technology back then, like we do now. He could only whisper, but he was getting me to practice his presentations. He told me what kind of wanted to say, I would add on to it. And I was the one showing up to meetings, say at Regina State Planning Commission and stuff and delivering the speech that he needed to say. So I learned a lot from him. And yes, would also explain what I do today.

Flynn 13:42

That's very cool. It it speaks very much to that generational advocacy piece that you've spoken about. Do you want to just kind of define what that means for you?

Paula 13:52

I firmly believe that, you know, we get this wonderful experience on this earth and we get to choose how we use it. And for me, I would definitely rather leave this earth a better place than how I arrived into it. That's what I set out to do.

Flynn 14:06

ALS is a disease that carries a significant financial burden for every person who it affects. Between equipment, medications, doctors' visits, and travel expenses, it all starts to add up very quickly. And that's when we're talking about a family with one person affected by ALS. In a family like Paula's, this burden grows exponentially from generation to generation.

Paula 14:27

From a familial perspective, this disease will financially devastate families. The amount of equipment that you need, the amount of home care that you need, it will leave families with a lot of debt. And in my family, when you have that parent that has left you with a lot of debt, you're bringing that with you. So for me, even trying to afford university, I was always told, you're doing it on your own.

Hayley 14:49

When Paula started university at Saskatchewan Polytechnic for dental hygiene, her father was already in need of additional care. As her younger siblings were still in elementary and high school, and her mother worked full-time, Paula had to take a lot of time off university to help her dad during the day, working or taking classes in the evening where possible. Her family was already under financial stress due to her father's condition, which was amplified for Paula as typical financial support was not available to her because of her part-time student status.

Paula 15:25

If I don't pass the full year and I only take part-time classes, they consider that a fail. I didn't succeed in taking all the classes, and then I don't qualify for financial aid to continue my education. I'm now cut off. And so now you're paying for it out of pocket, you're taking loans out, and then next thing you know, like for me, being in my early 20s, realizing I have ALS and having all this debt behind me, how am I ever going to pay that off? How am I going to help my kids? And then how do you afford even to put money into an RRSP that will help you out when you become disabled or something, right? Like those resources aren't there. And it just keeps continuing, you know, from each generation to each generation. And it's really, really hard to get ahead, which really explains a lot behind what my father's advocacy was doing, helping disadvantaged people, getting those support programs in place so that we don't have to live in that poverty. And it's easy for a lot of people to say you just don't work hard enough. And I can say I can't tell you how much I've worked. Five, six jobs all at once, all have to be casual because I have to be able to take care of my father, plus make ends meet, plus try to afford school, and you just almost never get out of this sinking hole of debt for a family. And it's really unfortunate.

Hayley 16:38

Yeah, that's that's brutal. The part you were talking about there with respect to when you were in school and you you couldn't access the loans or the grant because you weren't taking classes full time. That is just such a major equity issue.

Paula 16:55

Yeah, and for my dad, who's a teacher, like he only works 10 months of the year, he has to put money aside for the summer just to survive. And for him to even apply for equipment loans, it's like you have all this money saved, you have to use that to the equipment loans. And my dad was fighting, but then I can't survive over the summer. Right. So I've got my equipment, but now how do we survive? We weren't technically a low-income family, and yet it was really hard to ever get out of a low-income type situation because you're constantly helping your family out with ALS or you need it yourself. And you know, as my dad was in the end stages of ALS, here I'm the person now starting to show signs of ALS. And I can't tell you how incredibly terrifying that is.

Hayley 17:36

I can only imagine. Yeah. There's no doubt, like you you clearly are a very resilient person. If nothing else, this disease has taught you that, and you know how to take care of yourself.

Paula 17:49

Yeah, you do the best you can to find a way right.

Flynn 18:02

Paula began experiencing ALS symptoms in her twenties. Despite seeking medical attention early on and sharing her long family history with her new family doctor, it still took five years for Paula to receive a diagnosis. She believes that her doctor simply didn't understand the gravity of her family history, asserting that because Paula was young, a woman, and only had a 50% chance of developing ALS, she wasn't at a particularly high risk at that point in time.

Paula 18:30

Basically, I was told, in not as many words, that, you know, I'm probably just making this all up in my head. And if I keep thinking I have it, I'm gonna have it and I'm gonna make it manifest to myself. And that really offended me. Because I felt like I was showing signs and symptoms. I was noticing differences in my body. See the fasciculations under my skin, like the muscles twitching. The people I was participating at physical activities with, they could see it too. And yet the doctor says, Well, you're still strong. And I said, I get that. You know, I'm an athlete here, so I do perform at very high levels, but I'm not keeping up. I feel like I'm getting weaker. Please take this seriously. And kept getting excuse after excuse because, you know, we don't have treatments, and my doctor probably had my best interests at heart. They didn't want me to fall into a depression because of it, because you know, after my dad being diagnosed, I did fall into deep depression. But luckily, I got the help to get through that. Having a young family, they just wanted my best interests. Because we can't do anything, there's no point in getting tested. My doctor was very, very reluctant.

Hayley 19:38

I mean, it seems like though, maybe what we understand now is that people do want to know what's wrong with them, even if there isn't a cure for the disease they have.

Paula 19:49

Right. For me, it was peace of mind knowing. And not everybody thinks that. That belief is still held today among practitioners, especially when we talk about teens getting genetic testing. You know, we don't want to test people any younger than 18 because they need to understand, you know, the gravity of this. For my kids and my family, they completely understand the gravity of this, and for them, it's peace of mind.

Hayley 20:13

It's interesting to me too how you know, like you can get your driver's license at 16. How old do you have to be to vote? 18. You can start drinking when you're 19. There's these different ages that somehow indicate when you're an adult. And definitely in Ontario, kids at, gosh, I don't know, it might have even been before they were 16 years of age. My kids, if they went to the doctor with a problem. They could go on their own. And and in fact, there were times where we were just asked to wait in the waiting room. It's just interesting that those ages don't all match up, right? Yeah.

Paula 20:51

Like here, you're 14 to be able to go to the doctor on your own. Okay. Right? You need your own e-health account because you're now mature enough. Friends of mine, you know, who have had their kids diagnosed with certain familial cancers and stuff, and they can do that even as infants. But they're telling my kids we don't want to test you for ALS to know if you're a genetic carrier until they're they're 18 and they have to make that choice.

Flynn 21:13

I do understand to some degree the point of view of a of a practitioner who might want to err on the side of oh, I guess it's not the side of caution if you're not getting the testing done, but wants to err on the side of not getting the testing done. I I can see where that's coming from, but your doctor told you, oh, you only have a 50% chance. So just just don't worry about it. That's nuts to me. 50% is a pretty big chance, especially when you're talking about a absolutely life-changing disease. What do you mean only 50%?

Paula 21:44

I mean and a dominant gene, where 80% of my family's being affected by this.

Flynn 21:49

Exactly, right?

Paula 21:50

It's not just 50% in our family.

Flynn 21:52

Yeah.

Hayley 21:53

You know, uh another question I had was, you know, with the SOD one variant that there are these different I don't know. I don't know how to say it. They're different SOD one variants. Am I right? Absolutely. Are they all kind of different in terms of like if you have the SOD one variant, if you're you go through the genetic testing, you find out you have it, does that mean there's a 100% chance that at some point in your life you are going to develop ALS if you live long enough?

Paula 22:19

That's the thing. If you live long enough, the older that you get, aging is a risk factor. You will most likely get it eventually. But again, having the gene doesn't necessarily mean you will show symptoms. And we don't know how environment plays into it, right? I think there's approximately a hundred and almost 190 different variants of SOD one that they've found so far.

Hayley 22:41

And some of them like folks would progress much more rapidly, would you say? Or because for you it seems to me, okay, well, you had like 10 years from maybe when you first started seeing signs of the disease until you were on a hundred milligrams of Tofersen. So you had this 10-year period where you saw that your disease was progressing. So that's kind of a long time.

Paula 23:07

It is. And really we don't understand every variant, especially my variant. Because I have a G37R variant, and depends on how it's in the literature, sometimes 38R or 37R. But even that variant is considered a faster progressing variation. I don't think we understand the onset enough. Like that really hasn't been studied. You know, my son decided to get the genetic testing done, and at 17, like he was able to advocate for himself. But his theory is, you know, I want to be able to participate in the research. You know, why do we get it? How early do we get it? You know, there's another person in our province who started showing signs and symptoms who has our exact variation at 19, and he ended up being one of the youngest in Canada to be diagnosed with ALS. Why is it for some people onset is earlier, some are later, with our exact same variant? So he really wants to participate in research. And I know right now we have that Capture ALS happening. They're trying to do whole genome sequencing on people to understand that.

Hayley 24:08

Capture ALS stands for the Comprehensive Analysis Platform to Understand, Remedy, and Eliminate ALS. This is a Canadian platform connecting patients, physicians, and researchers to study ALS, providing tools and systems necessary to collect, store, and analyze vast data sets about ALS. The goal is to create a comprehensive biological picture of the disease by openly sharing this information with other global initiatives. Paula remarks that having families with the familial variant participate and Capture ALS could help us understand early signs and symptoms, environmental factors, and the onset of the disease.

Paula 24:58

In my family, going through some of the journals of my aunts, by the time they went to the doctor and said, I'm really having a problem here, they were quite advanced in their disease progression. And from the time they sought care from their doctor to diagnosis and to death was only about two, three years, which would make it sound like it's a faster progressing disease.

Hayley 25:14

Yes, okay. Right. Yeah, I think that's the thing. Like I wonder a little bit about, honestly, specifically people developing these muscle fasciculations, because we've had other people, other guests here tell us that that when they kind of thought more about it, going back a number of years, they remember noticing these muscle fasciculations, but they didn't think anything of it. That may be something that's happening for many years before the disease progresses.

Flynn 25:39

Now, to be an athlete and a dancer and someone whose identity and expression of that identity in a lot of ways came through bodily movement and control. How does it feel when you start losing that? Like, how does that impact your sense of self?

Paula 25:55

Absolutely devastating. Even today, there are things I still expect myself to be able to do, and it hurts so much when you realize you just can't. Being a lifeguard, I remember I was on a work trip and we were on a pontoon just for some fun, and we all decided to jump in the lake. And I didn't even think about I'm a great swimmer, I can keep myself up, I can swim back to the boat, and then to realize the current was taking me away and I was not strong enough to swim back. The people around me who were not as trained as I was were swimming back fine and I wasn't. It was like, oh crap.

Hayley 26:31

Oh boy.

Paula 26:32

You know, you you have this expectation of yourself to be able to do that. And it does hurt when you can't. It's taken a lot to try to accept it and just be like, yep, it's just the ALS and I'm just gonna do what I can. But it's kind of sad that I can't do it. A lot of the stuff I I used to be able to do. You find new ways to express yourself. I mean, the way I approach it is every morning I do wake up with different abilities, and I've really had to consciously think that I'm just gonna embrace it. I'm going to find a new way to express myself every day with whatever abilities I have, and I am just gonna be thankful for it because at least I can still express myself. I can still enjoy what I used to be able to do. I can look back at it fondly and realize, you know what, this is just the new way I have to live my life and I will do it to the best of my abilities.

Flynn 27:21

Sounds like a good mindset to have.

Hayley 27:23

Yeah, it is sort of focusing on each day. What what are you able to do?

Paula 27:27

I was expected to not live this long. I mean, for people in my family that start showing signs and symptoms in their 20s, usually they're all dead before the age of 44. And I celebrated my 44th birthday in October. So for me to still be able to stand and I'm still wearing my heels, I'm still speaking fairly well and everything, I'm not on any respirators and all that. I mean, to me, this is a huge success.

Flynn 28:04

Much of Paula's current able-bodied condition can be attributed to Tofersen, also known as Qalsody, the first ALS treatment specifically designed to target the SOD 1 gene variant. Paula participated in the Phase 1B clinical trial for Tofersen. Participating in all clinical trials requires tremendous courage, but even more so for a phase one trial, as these are primarily analyzing the safety of a potential treatment. Paula was diagnosed in early 2016 at a time where the ALS landscape was very bleak. This was before the approval of Adaravone, also known as Radicava, and before Saskatchewan had an ALS specialist or multidisciplinary clinic. For Paula to receive a specialist's opinion, she would have to travel eight hours to Calgary, which was a huge financial burden. So when Paula was contacted about the Tofersen trial in November 2016, it was a beacon of hope.

Paula 28:55

I got a call from my genetics counselor saying they had been approached by the clinic coordinator from the NEURO in Montreal saying they have a phase one clinical trial. And again, phase one clinical trials are primarily in the US. We really don't have any in Canada. So this is kind of a first too. The NEURO is very good. If there is going to be a phase one, it will be at the NEURO. So that was interesting. And they said they have a clinical trial starting for people with the SOD1 or SOD 1 ALS. So we're looking for people who have been diagnosed with ALS within the last year. And your name came to mind. If you're interested, I can forward your name onto the clinic coordinator and they will get in contact with you. We don't have a disease registry. People weren't keeping track of names. And again, there was that discrimination issue. We didn't want that information getting out. So for them to find people with the SOD1 variant to participate in these clinical trials was extremely difficult. You know, even my own father didn't get his genetic results. He did submit it for testing and his results got lost, and we never did find them. But I did have a cousin who did decide to get his his genetics results done, and he kept his results open for me. So at least we can compare my results to his and see that yes, it was SOD1 that I have. So we now know my father definitely had it. Really hard to find people. So I decided, you know what, it's my exact variant. I had started a new job, it required a lot of travel. I did call up my manager at the time and had explained I'm I would like to participate because this is what's going to make an impact on my kids' lives, on my nephew's lives, on my siblings' lives. I did not expect at all that it would work. My family had participated in clinical trials for decades. I've had family members donate their brains to science. It had never gone anywhere. Everybody still deteriorated and passed away. I kind of had the same thought. This is the very first treatment, potentially, for my variant. And we all know the first generation of technology is usually not that great. Might not work, but then we learn a lot from it, though. We do learn a lot. And so I thought, why not? We're going to learn a lot from this. And you know, the next variation will probably do something and probably be better for my kids. So I might as well participate in this. My manager said yes. Luckily, I had a field position, so I could do calls from Montreal when I went there, so I could still work, talk to my family as well, because I knew this is going to mean a significant amount of time away for my kids who were still quite young at the time. I was going to need child care. So I'm very lucky that you know my husband and I chose to stay in the city where I live. And my family lives one neighborhood away in every direction. So at least somebody at some point can always take care of my kids when I need it. So they said, Paula, don't worry about it. We will all figure it out. We will plan amongst ourselves. We will make it happen. We will take care of your kids. Don't worry, just go for it. Call up the clinical coordinator. And it was on a Friday that they called me. And by 4 p.m. on Friday, I had tickets to Montreal leaving on Sunday. And so I participated in that. I knew I was going to be in the cohort for the 20 milligram dose, which was the lowest dose being tested. So again, being the lowest dose, I fully expected this probably isn't going to work for me. I'm not going to notice anything, which is true. I didn't notice an improvement. I was still deteriorating, but at least I was participating in that research. The good thing was I was told that, you know, if successful, they should be holding an open label extension, which means everybody will then get the drug. So I was also understood that trial is done, which was about a six-month trial. You then move on to the open label extension. I would be placed on the lowest dose until the highest effective dose was found and approved by Health Canada. And I was like, okay, might as well. Hopefully it buys me at least some time.

Hayley 32:50

In the meantime, Paula was dedicated to rallying more people to participate in these clinical trials. When she first brought the idea to her family, they were naturally defensive, particularly due to the threat of discrimination they'd been working so hard to avoid their whole lives. But when Canada's Anti-Discrimination Act came into effect in 2017, the doors were opened for Paula's family.

Paula 33:16

You know, I have three younger siblings, I'm the oldest. My one sister, the one directly younger than me, she was open to the idea, but my two youngest siblings were not. My one sister, she eventually came around to it. This technology, this antisense ogleonucleotide, try to say that ten times fast. Um, you know, that technology was already being used in infants with spinal muscular atrophy, and they were having great success with it. And I was like, oh, that's really interesting.

Flynn 33:44

Now let's get scientific here for a second and talk about this antisense oligonucleotide technology. Messenger RNA carries information from DNA inside a cell's nucleus to the cytoplasm where proteins are made. There are many proteins made by the cells of the body, each with specific functions. Antisense oligonucleotides, or ASOs, bind to messenger RNA and prevent the formation of a given protein. Tofersen is an ASO that blocks the production of the SOD-1 protein, which can be harmful to those who carry a SOD 1 variant.

Paula 34:18

So I was telling my siblings, you know, you should really get on this. We it might actually work for us. Uh we need more people to participate in the clinical trial to prove it. And this is your one chance to do it. You might not get another chance for years. So if this works, then you actually get the treatment because we now have an open label extension. I started reaching out to cousins, they got me really interested in ancestry. I actually did my genetic testing on ancestry and I went all out trying to find family. There is family in Winnipeg that I found that I got to participate in the clinical trial. I knew of some cousins in Ontario. I reached out to them. I also found other cousins in Ontario. They actually thought they had MS in their family. They didn't realize he was actually ALS. Right? They had been told it was MS this whole time. It's really interesting how you know some of that more distant relatives as I started to do the ancestry DNA that I was finding that had the disease, not everybody wanted to be tested, and that was fine. I would just open the doors. Interestingly, like when my sister got tested, she was having muscle fasciculations and cramping too. But again, most people have those symptoms, and it doesn't mean you have ALS. Um, she was found to have the gene, so they did some more testing with her, and we found out she was symptomatic. So she was able to start getting this drug too and participating in the clinical trial. I had two of my cousins in Ontario that weren't sure if they had the disease and they were in their 20s. They were also starting the ATLAS trial as well for pre-symptomatic people that they would follow. And so it was just assumed that you know the people in their 20s were probably good on the ATLAS trial. Turns out they were symptomatic.

Hayley 35:56

Ah, okay.

Paula 35:58

Yeah, we didn't realize how early this disease actually hit our family because turns out we could live a long time showing some symptoms. It was really good to at least, you know, participate. Apparently, Canada was the one country with the most number of participants in the Valor trial. Us Canadians did a lot of great work tracking our family down and talking to them.

Hayley 36:18

But recruiting family to participate in clinical trials wasn't always easy. When receiving her monthly infusions via lumbar puncture, which is a procedure where a needle is inserted into the lower back and cerebrospinal fluid, Paula got to know some other participants of the trial. They would discuss the various difficulties they had convincing family members to participate in genetic testing, which is when the importance of having a Canadian ALS genetics counselor available began to come into the picture for Paula.

Paula 36:51

I still remember, you know, my dad going in to talk about whether or not he had ALS, but the doctor, you know, was saying, Yes, you have ALS and shaking his hand and saying it was nice to know you.

Hayley 37:02

Oh boy.

Paula 37:03

Right? At least I had the genetics counselor, but I walk into a room, it's telehealth. Really, I just wanted them to call me and they wouldn't call me. I missed my university convocation to get my genetic testing. That was upsetting for me. And we were literally there for less than five minutes. Yeah, you have it. Okay. Do you have any questions for me? Nope. Is there anything I can do about this? Nope. There's still nothing, no treatment. Just, you know, call up your doctor whenever you need supports or, you know, a letter to get funding or something. It's like, okay. Yeah, really, there's no way forward.

Flynn 37:36

Paula was particularly worried about the impact on her children. She was told that when they turned 18, genetic testing could be considered, but what Paula was really worried about was she felt they needed access to emotional supports, knowing they one day may develop ALS. Paula was told to seek counseling, and she did, but none of these counselors understood ALS, and those who did have some experience with the disease were only experienced in sporadic cases, not familial. Paula felt lost as to how to explain the situation to her children without causing additional trauma, just as lost as she felt when cousins she'd reached out to about genetic testing started to ask questions about what this means for their future children. With these experiences in mind, Paula has started advocating for a clinically embedded psychologist who could support an ALS genetics counselor to provide holistic care to the community.

Hayley 38:25

That's a great idea. Absolutely. Yeah, I mean it would be great really to have a psychologist as part of the multidisciplinary team at all these clinics around the country. Right.

Paula 38:36

I mean, and I'm really lucky, you know. Um I know how ALS affected me as a kid. And I didn't feel like I could always talk to my parents. I didn't have anybody that I could really trust to help explain and reframe things until I was older and again seeking care. I had the ability to at least articulate by that point to my counselor in my 20s what this meant for me, and they helped me reframe things. And we kind of developed some ideas on could help me and to tools and resources. And, you know, I'm really lucky to have a few psychologists now, and I know how to advocate to psychologists about care that I want for my children. I've always included psychology, care for my children. I want them to have the tools to deal with whatever comes at them in life. Because there it's gonna happen young. I've always, especially for my oldest, because a lot gets thrown on the oldest, I could say a lot's gonna ride on him, especially as being the only son who's probably a little bit stronger. We're gonna be asking a lot of him. And so all three kids have had psychology, but particularly him, he's had a lot to give him the tools that he needs. I found really good psychologists that have been willing to work with us and build those supports that are tailored to him. And like I said, that's where this idea has come from. Working with Dr. Melinda Kavanaugh, who's has specialized in Huntington's disease. She's now done a lot of work in ALS to develop supports for children and families. Now she goes around and delivers that training. Now Global Neuro Y Care is now starting to be implemented in Quebec, Ontario, and I believe Alberta. Once we get this clinically embedded psychologist, I really hope we can start implementing that here in Saskatchewan.

Hayley 40:17

Sounds awesome. Yeah, that's that's great work that you're doing there, Paula. One thing I would say is talking with your siblings and other relatives, telling them about the Tofersen trial, encouraging them to consider participating. The participation is so important because without the numbers, you don't have the results that you need. That's as simple as it is. If if you have too few people in a study, the results are meaningless. So we need people to participate. All in all, there was an approximately three-year gap between Paula's diagnosis and March of 2019 when she was finally able to begin receiving the highest safe dose of Tofersen. 100 milligrams per dose. This includes a nearly year-long gap between the end of the clinical trial and the beginning of the open label extension. During this time, Paula was receiving no medication at all. In these three years, Paula's condition deteriorated significantly. She tells us she was blurring her words, drooling, and struggling with a drooping lip. As a ballet dancer, she noticed she could no longer hold herself up on demi point. She would feel a pinch in her ankles before they gave out, and she would trip and fall down the stairs. Family bike rides at times turned into ordeals as her balance declined, causing crashes where she could not pick herself up off the ground. She could no longer carry laundry without her hands giving out and had to stop cutting her food due to the severe hand cramping. Even undoing pants buttons to go to the bathroom was a struggle. But just a few months after starting the 100 milligram dose of Tofersen, the tides began to turn.

Paula 42:00

I would say some of the first signs and symptoms that something was happening, and I was kind of scared that it was me getting worse, was I was starting to feel like pins and needles in my limbs. And I was also noticing that it seemed like my muscle cramping and fasciculations weren't as bad anymore. I was actually getting a better sleep now. I wasn't staying up all night crying because the cramping was so bad. Then I was noticing my balance was getting better. It's always a habit for me where I like to try to like walk on my toes because it's a ballet thing. And um, you know, before I would try and my heels would keep crashing down, and it's like kind of depressing. I couldn't do this anymore. But all of a sudden I could feel, hey, I'm starting to hold myself up. I can do it longer. I remember going to treatment and I was like, okay, I can't practice for two days because I have to show them what I can do in treatment. And so I went to Montreal and I the one uh anesthesiologist, you know, he's asking me, like, so are you feeling anything yet? And I'm like, actually, I am. And so I showed him, I'm like, look what I can do. And he's like, Oh my gosh. And he went to my neurologist, like, you got to come see this. And I was like, Oh crap, I might not be able to do it again. But I did it again and I held it up. And they were all like, oh my gosh. And then I started to, you know, wear my heels again. It was a point like every time I went, I was wearing my heels. And so whenever I go to conferences, that's one thing. Like, I'm always wearing my heels at work. I wear them almost every day now. And, you know, I can do that again. And thinking about maybe trying some stilettos. I haven't gotten that far yet. Still wearing my block heels. Don't want to jinx it, right? But and then a few years ago, you know, I still have my old point shoes. I mean, these are like 25-year-old point shoes, they're falling apart, but that's okay. Um, they're from actually before I broke my ankle, so and before kids. So they're a little tight on me. My feet have gotten a little bit bigger, don't fit like they used to, but that's okay. I'm like, I'll put them on, squish my foot in there, and see if I can go on point. And I did. And it was like, oh my gosh, I can support myself on point. Like, I definitely couldn't do That before. My ankle would just keep trying to go out, and there was just no way I could do it. So, no, I've made a lot of great strides.

Flynn 44:07

In 2019, Paula contracted bronchitis. This was quite scary for her, as in her family, respiratory illnesses like this tend to have a severe and permanent impact on the lungs. But with Tofersen on board, the results of Paula's pulmonary testing after recovering from bronchitis had actually improved by 10%. Since then, Paula has lived through COVID and pneumonia, with post-illness pulmonary testing revealing a forced vital capacity of 94% up from the previous 86%. Again, these are unexpected improvements, particularly after respiratory illness. With her confidence growing, Paula's been pushing herself further this year, even getting back into running for the first time in years.

Paula 44:47

Granted, I can't run consistently for a full five kilometers, but I can still get through the full five kilometers without fatigue, and to me that's like amazing.

Hayley 44:57

It is.

Paula 44:58

And my ankle wasn't giving out a single time. So I didn't have to use my ASO or anything anymore with my left ankle. So it's been really incredible.

Flynn 45:07

You know, kind of on that note of talking about all of these improvements that you've made, you've said publicly that it's not a cure, but it gave me my life back. Uh and when my mom and I were kind of discussing your experience with Tofersen and I did at some point say, you know, maybe a little bit ignorantly, most of the symptoms have been reversed. That kind of sounds like a cure. Like why why is that an incorrect statement? Like, why is this not a cure and how does ALS continue to impact you?

Paula 45:35

It's not a cure because I'm still impacted by the disease, right? I still have my bad days. I still have muscle cramping that happens. Even the other day at work, my hands just collapse up and I struggle to open them. And it granted it's only for a few seconds, but it still affects me. I haven't regained all my strength, right? Like swimming still scares me because I'm just not there. Um, my hands are again still weaker than normal. I still can't open a jar by myself where even my daughters, it'll be easy for them to do, no problem. Right? So I mean, I'm still affected. Uh you know, I'm not a hundred percent. I still have to watch what I do. I was participating in a yoga class and even bending my leg the wrong way, it's gonna cramp. And I don't have the strength to undo it, and I need people to come over and help me out. So I'm still affected by the disease, definitely, but I am way better than I used to be.

Hayley 46:32

Right. I'm curious to know if you have experienced any difficult emotions around your response to Tofersen. And what I mean by that is okay, it it's working great for you, but I mean, at least based on what we know so far, the drug's not gonna help around 98% of people that have ALS, and even all the folks that participated in the Tofersen trial did not have a positive response. So, yeah, I just wonder, like, you know, have you ever kind of thought to yourself, well, why why have I been lucky enough to have the response that I had when when others haven't?

Paula 47:09

Absolutely. You know, there is a lot of survivor's guilt, but I always have to remind myself this is the start. At least we have something. This is our first indication that there is hope. This can be a treatable disease. I'm now proving this disease is treatable, and I want to use this to help convince everybody and to keep building on this momentum that we have something, don't stop. Let's keep improving it. And even the treatment that I'm receiving now, it isn't perfect. You know, having to get a lumbar puncture every four weeks in your spine for the rest of your life, we don't know what that's doing to me. You know, um, you get your post-LP migraines. Every time you get one, it's almost like in concussion. How many of those can you really go through before it becomes a problem? The beginning, I mean, those lumbar punctures were agony because you might have a low back pain, but then it's the post-LP migraine, we call it, that affects you. For me, it was always on day two, it seemed to hit. And the longest one I've ever had lasted three weeks.

Hayley 48:12

Oh, gosh.

Paula 48:13

Light affected me, noise affected me. It felt like my head was in a vice. I couldn't eat, I was puking, and every time I puked, it would make it worse. So then you're trying to hold things down, and you just like literally breathe through it. Yeah, it affects you being able to work, couldn't look at screens, like especially Excel sheets, that would just make it worse. Over time, luckily, my body has adapted. I used to have to sit on my stomach. I don't not sure why it worked, but I was told try laying on your stomach for an hour afterwards. So I laid flat on my stomach for an hour before I got up, and I found that that worked for me. And over time I've been able to flip over to my back. Now I can get my punctures, and right away I'm semi-reclined. I could never have done semi-reclined before. Um, one thing that does affect me now, after I get my treatments, usually a couple hours later, because the drug is somewhat inflammatory. My leukocytes are always elevated, and that's just something that's normal with it.

Hayley 49:10

Leukocytes are white blood cells, immune system cells produced in the bone marrow to protect the body against infection, disease, and foreign materials.

Paula 49:20

I get my drug around lunchtime noon ish. So around supper time, it's starting to affect me. Um, I do feel like I have fever and chills. I take an advil, I go lay down, and I wake up the next morning fine. And other than that, it's low back pain.

Flynn 49:34

Paula avoids any lifting for the first week after her treatment. In fact, when she had to travel for treatment, she always needed someone with her to hold her bags and luggage, as even holding something like a purse could trigger a post-lumbar puncture migraine. But now she generally schedules treatments on a Friday and is good to go for work on Monday, so long as she's careful with lifting and bending. Even in those first couple of days after treatment, Paula puts on her walking shoes.

Paula 49:59

I'll do 10 to 20,000 steps uh for the first two days after treatment, because I don't want to lay down. I would rather be up and moving and enjoying things.

Hayley 50:07

Those those high heels were made for walking.

Paula 50:12

Not after treatment, but yeah.

Hayley 50:14

Yeah. I guess my next question was kind of you know, just the idea that the drug was a win for you, but you know, do you also think it's a win for the ALS community at large? Which, I mean, clearly the answer is yes, because yes, it's it's helping researchers to to progress, right? Um and and like you said, now we know that the disease is treatable, like we we have something.

Paula 50:39

So even though they're not everybody has the success I've had, we are seeing a slowing of disease progression.

Hayley 50:47

Okay.

Paula 50:48

So there is some slowing. So some people that may have only had, you know, especially with the A4V, A5V, would have only had months to live. Now they're surviving, you know, a couple years. Right. So that is still a win.

Hayley 51:02

Yes.

Paula 51:03

Um, we also know, you know, even somebody with the same variant as me, if they start later on in their disease progression, they're not going to have the same results that I do. So we we know you have to start early enough. Starting later, yes, you're not gonna have the results that I do, but again, it is going to slow the progression of the disease, and that's still a win for the ALS Society. What is that teaching us? Well, we have to diagnose this disease sooner. So, again, for those of us with that family history, we need to be advocating. We already need psychological supports to help us with that genetic testing and to help us with, you know, starting these clinical trials. Because I don't want to see anybody so scared, they don't know what they're gonna do to themselves if they get that diagnosis. And I've heard that from family.

Hayley 51:59

Back in 2003, Paula's father participated in a clinical trial for Radicava, a drug that was not approved for ALS treatment in Canada until 2018, nine years after his passing. Paula was very hurt by this. Over ten years of waiting for any ALS drug is unacceptable. The community simply does not have that much time. Paula was one of many in the community jaded by these wait times and began working to understand the approval process so that they could then work to change it. With the support of ALS Canada, Paula and other ALS advocates started talking to MLAs and MPs, people in the pharma and drug industry, and people in the cancer research sector to determine what roadblocks exist to drug approval.

Paula 52:51

One of the things that we discovered is they don't understand ALS. They think it's like a normal, you know, disease. It's gonna take years. Clinical trial, we need these people in these clinical trials for years. But the problem with ALS is we're not surviving that long.

Hayley 53:06

Right.

Paula 53:07

Clinical trials have to be shorter. What are those biomarkers? And then we have to advocate for that because you know we can't run like a regular clinical trial, and then they're coming back to us saying, Well, what then do you propose? So with ALS Canada, great minds came together, came up with these two pathways of expedited approval processes as well as access to the drug before it's approved, help continue the science.

Flynn 53:34

Access to drugs before approval can take place in the form of a special access program. When a drug is part of a special access program, a healthcare professional can request the drug when treating a patient with a serious or life-threatening condition where conventional treatments have failed, are unsuitable, or are not available in Canada. From March 2019 until its approval in March 2025, Paula received Tofersen through a special access program.

Paula 53:59

Biogen really, especially with Tofersen, did a really great job communicating with the patient community and say ALS Canada and helped to work with us to use that pathway and to help guide the process in order to get the drug to approval. So we're still learning from that. And Amylyx too. Amylyx did a great job, you know advocating with us saying we're willing to do x, y z, you know, offer this drug, we're gonna pay for it while the clinical trials are still going on. And if we find that it doesn't work, we we will pull it, and Amylyx did with their drug, which was absolutely amazing. So I wouldn't consider that a failure at all. It was a great learning experience for our community.

Hayley 54:43

Paula and her peers are advocating for expedited approval processes to the Canadian Drug Administration, as well as at both the federal and provincial levels. However, initial approval is only half the battle. Tofersen, for example, was approved by Health Canada just over a year ago, and a price for the drug has been set, but each province must individually negotiate to determine whether or not they will fund the drug. As of right now, Tofersen's parent company, Biogen, is paying for patients to continue receiving the treatment. But now is the time for advocates like Paula to work with provincial governments to help them understand ALS and the financial considerations that come with it in hopes that they will cover the cost of Tofersen going forward.

Paula 55:30

This drug that I have is what $30,000, $368,000 a year that it's gonna cost. How much of that is each province gonna pay? Even if they say you, you know, the patient pays 1%, I know I can't afford that. When it affects multiple members of your family, so if I need it, my son could start needing it within the next five years. What's that gonna look like? So they're trying to arrange right now how much the province is gonna pay, how much is gonna be co-pay, and how much is the patient gonna be left for at the end of all this? So one of the things that I'm trying to push for, of course, is the pro province to pay it 100%. You know, I know right now in Saskatchewan there's only six of us on this drug. That's not many. But I mean, what I'm able to contribute to society over the last 10 years has been incredible compared to the burden I could have been and what that could have meant for my family. So at least I've been here, I've been able to raise my kids. You know, I never thought I'd see my son graduate from high school, and here we are, he's gonna be graduating this year, which yeah, I absolutely love.

Hayley 56:37

Yeah, yeah.

Paula 56:38

And to do it able-bodied is another another thing.

Hayley 56:40

You know, this burden of care survey that ALS Canada is currently doing, right? It's really important that people in the community participate in that because that that will really help with this sort of thing, like specifically, um with Tofersen, you know, discussing with provinces if they're gonna cover all of it or what have you, right? So, yeah, that that's an important thing for sure for people to participate in.

Paula 57:07

Tofersen and also like the home care and equipment aspect, because quite often, you know, with ALS, when we need equipment, we needed it yesterday. You know, one day I'm fine, the next day I might not. I've seen family members come down with pneumonia. One day they're walking and able to talk, and it within 48 hours, they're now bedridden and they need that care. They'll never walk again. What does that mean for your home? You know, how are you gonna access those equipment and renovations? Now suddenly you need home care and you're gonna have to wait a couple of weeks for an approval process. My father is an example. Here he is bedridden, he needs 24-7 care because he was even choking on his own saliva, and you know, we couldn't get the equipment, and we were only approved for two hours of home care per day, which led to me having to drop out of my university classes, withdraw out of school because I had to provide his care. Yes, right. So I'm really interested to see this burden of care, and you know, I'm so glad for the funder who is now funding this study, so that we can now take this information to each province and say, you know, this is the burden of care in our province, and we can now advocate for the supports that we need for the people living with ALS.

Hayley 58:18

For you, advocating for the ALS community, this is a passion, and you recognize the critical importance of patient-informed decision making within the ALS community. Can you tell us why this is so important to you and maybe share some of the advocacy work you've done in Saskatchewan to improve access to care, including clinical trials in your home province?

Paula 58:43

Historically, there have been organizations and even in the research community, it was people who study ALS but have never met people with ALS, or they've never included people with ALS. And the problem with that is how can you advocate for a community without including them, without understanding them, and have ever met them? And again, there is such a big difference between again a family with sporadic ALS or a family like mine where you have many people involved. We have people with ALS helping people with ALS, right? Yeah, and in different capacities. How do you understand my struggles without including us in that conversation? And that is so important to have people with ALS at every level of decision making to help inform how clinical trials are being run. I mean, even me participating in the Valor trial, yes, they're getting my biological data about whether or not this drug is working, but what is my experience participating in that clinical trial? Did they see the flight delays? Right? Spending 12 hours on a tarmac during COVID because we can't leave the plane due to contamination issues.

Flynn 1:00:00

Oh boy.

Paula 1:00:01

Right? Like, do they realize, you know, not being able to stand and make my way home because the low lumbar puncture pain and migraine I was experiencing, you know, the financial burden of it, of you know, especially trying to eat downtown Montreal, $45 a day does not go very far. You know, me trying to arrange childcare, and I again I'm so glad my family was there to help me out, but not everybody might have that experience. I know some people for some rural communities that would have to drive three or four hours to get to a major city and then take the plane to get to Montreal to get treatment. Like, that's a lot to put somebody through, especially if they're in a wheelchair or a scooter or something. That's a lot. So for to have us part of those conversations to include us to say what will work and what won't. I know I was involved with clinical trial design and they were talking about having lumbar punctures every week because that would help them with their data. And I brought up the problem. The post-LP migraines that involved with weekly lumbar punctures, that's a no-go. I will tell you that even you know, the first three every other week that I experienced, that was a lot. I would never want to do that again. Those first three were hell every week that I would never participate in a clinical trial like that. And for them to hear that from you know, somebody like me was like, oh, okay, now we have to rethink this. What else can we do? And luckily they took our design ideas to heart and yeah, used our suggestions to make their clinical trial design better. So I do think our advocacy is extremely, extremely important when it comes to, you know, what do we need? I know that there is ALS organizations globally that don't have anybody with ALS. And even right now I see this, you know, when we talk about genetic testing for youth, anybody under the age of 18, they're making decisions on behalf of my children. How do they know their reasoning behind getting genetic tested? Are they doing it out of fear or no? Are they doing it because they legitimately want to participate in understanding how we get ALS without talking to them and understanding that, you know, again, you're just assuming you know better on behalf of somebody else. And I think they really do need to have that voice too.

Hayley 1:02:17

Yeah, I I agree. I mean, I I think when you just said at the end there assuming that you know better, that's the problem. It's the problem of people in certain positions assuming that they know best. Whether that's governments, I mean, gosh, we see that a lot, don't we? Um and it's really it's just wrong. And also in this community, the fastest way forward then is including people with ALS and caregivers too, but but certainly as people with ALS, because without that input, we're we're we're not even where we are now, right? If if that didn't happen, we'd still be, I don't know, a couple years or five years behind. So I think it's critical in terms of making timely progress.

Paula 1:03:06

Oh, yeah. And I mean, I've heard excuses that you know people with ALS are too emotional to be on the board, or they just don't have enough longevity. Oh god. But the problem is you're right, sure. But you know what? That drives us, right? We get things done fast. We don't have time to wait.

Hayley 1:03:28

That's right. And and also, what's wrong with being emotional? It's a life-threatening disease. And guess what? Also, bad things happen in life, and it's okay if you're emotional about it. Yeah, it's okay. It totally is.

Paula 1:03:40

It's okay to sit with it. The trick is, yeah, using that and harnessing it to act assertively. Now, yes, we could act poorly, you know, we can act aggressively, but also, you know, there are those of us, and I hope I can include myself in that, I'm trying to use that to work assertively, to make the change, and very matter-of-factly. I don't have time to wait. None of us do with this disease. We need to start doing this now. We're willing to use our motivational momentum, we are working together, and we are such an incredible community to be a part of because we do have that ticking clock. And one thing about the patient community is we're not all the same. Like any person, we all have different skills, right? Some people are great at media, you know. We talk about like Mike Cels, who worked in pharmacy, he understood pharmacy. Let's use him. He has the contacts, let's use that. And I think that's been something very powerful about the patient community, you know, globally. ALS doesn't affect just one type of person, it doesn't affect people of poor socioeconomic status or those poorly educated. It can affect the rich, it can affect the highly educated. We are such a diverse community. We have so many strengths, and why not use our strengths and our motivation? Why not harness that motivation to work with us to make the change that we want to see in this ALS community in the global landscape?

Hayley 1:05:16

Very well said. And I think of Chris May, too, just as another example of somebody who's a new CALI graduate who worked in government. So what a great resource for teaching people about government advocacy or advocating to government, you know?

Paula 1:05:32

Absolutely. Like I have experience working in the legislative assembly here in Saskatchewan. So I know the provincial level. And again, with my dad's experience and helping him out, I also know the municipal side as well, what happens in our city. So, like, yeah, we all have great strengths that we can use and draw upon how to approach people. Uh I love the CALI program that we've developed because we're able to harness everybody's strengths. Everybody has different ideas that we're bringing together. And we have made some really great strides, literally over like the fast five years of awareness. Uh the puck ALS uh I can't even remember what it's called. The truck Bucapuck, that's it. Buck a puck and stuff, you know. Um, Chris Snow bringing things out and Mark Kirkton on the NHL level and stuff. Like, we've made some great strides. And it's amazing, you know, even when I was diagnosed in 2016, so many people hadn't heard of ALS. And those that did was like, oh yeah, I've kind of heard of it, but you know, not too much. And there's a lot more people these days that I run into. It's like, oh yeah, I've heard of ALS. I talk about research a lot in, you know, a lot of mentorship communities and peer support communities. And it's really nice to know that there are other people out there who may not have even met us, who don't know us, that are there trying to help us and support us and to find a you know effective treatments for this disease.

Flynn 1:07:02

When you were traveling to Montreal for the the Tofersen clinical trial, you met people from around the world who had either traveled to Canada for this uh clinical trial or even people who moved to Canada to receive treatment that they couldn't receive elsewhere. I was curious what you learned from these people about how ALS is treated, both medically and socially around the globe.

Paula 1:07:27

Yeah, really globally at the time, it was considered a rare disease. We were all affected by this very heavily in our families. Similarly, it was really hard to get genetic testing, it was really hard to get care globally, which was always frustrating. And, you know, the people that I met were kind of like me, very much trailblazers in their own family, deciding to get this testing done. And, you know, I think we recognize that uh among us that, you know, we're among the first to really start talking about it, wanting to talk to other people outside our families about it, which was interesting as well. We knew this open label extension would be opening up. And, you know, there was that worry once this ends, where are we going to be as far as getting this treatment? And so it was great to work with Dr. Angela Genge, Montreal. She has been such a great mentor to us all. She has put her heart and soul into ALS. She has helped, you know, there's a woman from Israel, another one from the family from New Zealand, and you know, she worked really hard to get Biogen to work with us so that we can get our treatments back home. New Zealand has access because of the work that Biogen did, and as well as Dr. Genge advocating for it and talking to those neurologists, right? During COVID, but really hard, like I said, to travel Montreal. And she worked with the folks in Calgary and Edmonton to get those sites set up for us so that we can start getting our care there. And Dr. Genge, Dr. Mobach, and a bunch of other clinicians across Canada worked with Dr. Schellenberg and to help Dr. Schellenberg advocate for us getting our treatments here in the province. So it's been such a great community of care providers for the most part that we've been able to get all this done fairly quickly and to use each other's knowledge to make it happen.

Flynn 1:09:21

Here's a little bit of extra context about those wonderfully talented and hardworking clinicians that Paula mentioned. Dr. Angela Genge is a professor and neurologist specializing in neuromuscular diseases, particularly ALS. She's the director of the amyotrophic lateral sclerosis clinic at the Neuro at Montreal Neurological Institute Hospital, and the executive director of the ALS Center of Excellence. Dr. Theo Mobach is a neurologist, neurohospitalist, and a neuromuscular specialist in Calgary, and is affiliated with the University of Calgary Cummings School of Medicine as a clinical associate professor. Dr. Carrie Schellenberg is a neuromuscular neurologist and associate professor at the University of Saskatchewan. She is the medical director of the ALS MND Clinic and the Medical Director of the Royal University Hospital EMG Lab.

Paula 1:10:13

The continent of Africa and all those African countries, where they don't have a lot of these treatments yet, and it's us, you know, using our experience and what we've learned and coaching them on how they might approach this in their country as well. And so I've been working a lot with the International Alliance and going to some global meetings and uh having a global strategy on how to bring up under-resourced regions. And the fascinating thing is there's a lot of regions that are under-resourced in different ways, right? Like they might be strong in one area but weak in another. And then how do we pull the expertise from other countries who may have had something similar that have succeeded and you know, share what we've learned in the processes that helped us to help them. And so we're starting to develop through the International Alliance those networks of people that can support each other, of professionals. And this year we had the first CRLI, like the the research learning institute from an international perspective. So from any advocates around the world who want to help out their country, we're able to participate in that program. And now we have that learning institute and those supports among people with lived ALS experience developing that way. It's been really, really nice to see and um to be part of all that advocacy to help people globally so that you know we're all rising up together because it really does hurt my heart right now where there are people being diagnosed with SOD1 in different countries who don't have Tofersen available to them.

Hayley 1:11:40

Yeah, it's just it's just ethically wrong, isn't it?

Paula 1:11:44

Yeah, and for the most part, it's you know, their processes in that country.

Flynn 1:11:48

Yes. Right.

Paula 1:11:49

And it's working with that to change those. And I mean, yes, there's some countries under dictatorships where it's gonna take a lot longer before they ever get this drug in their country. We're we're starting to help support them and hopefully to help them learn about ALS, what we know and how we can help them out.

Flynn 1:12:05

All right, very good.

Hayley 1:12:16

Before Paula tells us about one of her many passions that is not related to ALS, she gives us some context as to what led her to this passion in a story that is as harrowing as it is beautiful.

Paula 1:12:31

My husband and I were dating. We had surprise baby, you weren't expecting. I mean, you kind of do, but you know, I we weren't planning it. That's the thing. So, yes, we had a baby, and um, because you know, we weren't married yet, we'd only known each other for a short time. He had asked, you know, because we're having a baby, should we get married? And I said, I don't want to get married just because we're having a baby. I want to make sure we're definitely right for each other. You can make it through the whole childbirth process and the situation for with my dad, and you still want to marry me, and I still want to marry you, we'll get married. So, yes, he saw me at some of my ugliest points, and um just before my son was born in Thanksgiving Day, my my dad drowned in the bathtub. His leg spasmed, he fell forward, he didn't have the strength to push his head out of the water. Oh no. So my sister found him because she was checking on him every few minutes. He was unconscious. She was a lifeguard at the time, and my mom is a retired registered nurse. My sister called my mom to go over there, they pulled him out of the tub, they started doing CPR, EMS came, they were able to use the AD to revive him. So, yes, he was actually dead. And um, he went back to the hospital, they figured out he hadn't swallowed any water, and he was back home for Thanksgiving dinner that evening. Super emotional. He luckily he survived, very traumatic for the whole family, I would say. But um, my brother brought home a cold from school, he developed pneumonia, my dad almost died, he ended up getting a peg tube put in. Um, and he was released from hospital the day before my son was born. Okay. So, for my husband to go through all of that to see my dad at some of his worst times, we were pretty sure he was gonna go still be there to help out with my dad, and yeah, saw me at one of my worst during child the whole childbirthing process. We had a baby, and then um, yeah, he asked me, So you still want to marry me? I was like, I think so. You still want to marry me? He's like, Yeah, so we decided to get married.

Flynn 1:14:46

With Paula and Matthew now engaged, Paula was on the hunt for a bachelorette party activity.

Paula 1:14:52

I heard about a new pole dancing studio opening up, and it was part of a franchise across Canada. So the franchise was opening up, and they weren't gonna be open yet for my bachelorette, so I couldn't do it. But the what I was described, I was like, that sounds like a lot of fun. Like uh two women in Canada that had started up a company, and um, they were both yoga instructors, and they thought it would be fun to learn about pole dancing. It was all about pole dancing for women's empowerment and fitness. And I'm like, that sounds great. I would love to do that. I mean, I had a background in gymnastics and dancing, so I signed up for a six-week course, and the franchiser was teaching the the class. I loved it. I was felt like a natural at it, it was a lot of fun. The community of women were just so incredibly supportive, too. Like we it was just a blast. And there's one woman in the class, she was like, she's in her 70s, but for her to get in there and she just she was hilarious. Like I fell in love with the whole thing. So I end up pretty much running the company from Regina because the the franchiser was from Edmonton. So we had the studio, so I became an instructor, and that's when my husband found out that this one I was doing. You know, he's like, I'm kind of nervous about this. Are people doing what we're doing? And I'm like, no, but it's not like it's not a strip club or anything. Like, we're not stripping for each other. This is just us in our workout gear, just having fun and laughing, you know, getting to learn about our bodies, not being ashamed about our bodies, because as women, we tend to be. And it's learning that we don't have to be ashamed, that we can enjoy our bodies and just feeling movement and all that, and learning how to make push-ups sexy. That was so much fun. Learning how to make squats sexy, like who doesn't want to do that? Well, getting an amazing workout and having like the best upper body of your life. So, yeah, I had the greatest time ever. My sister ended up buying the franchise eventually, um, because I got her into it. She used to be your Ukrainian dancer, and she was kind of getting old for it and wanting to try something new. And I said, You really got to try this. And she was really scared of the stigma at the time. Again, we're not stripping, we're just having fun, and let's go. So she tried it, she fell in love with it too. So, yeah, then she decides she's buying the franchise. So she did. Wow, good for her. Yeah, and so then we started to do um showcases where we would show off what we've learned to our friends and family. She's like, I'm gonna make this into a pole dance uh fundraiser for ALS. And so for many years, we did these ALS fundraiser showcases. They were selling out, like we had people standing. There's you know a lot of family and friends that came in to do this, uh, you know, to support everybody, blew up and became a great thing. And so we had so much fun doing that. So, yes, that was our ALS showcase fundraiser involving pole dancing and how that came to be.

Hayley 1:17:59

Very cool. Yeah, it sounds like a lot of fun. And I guess when you had the showcase, okay, that was the big payoff for Matthew.

Paula 1:18:12

Oh gosh. A payoff in a way, yeah. The the one thing is, I mean, my daughters, all even my son, really, like I would practice at home and they would copy me. And so by the time my my daughters actually participated in this ALS showcase as well, and for them, like again, there's some stigma where people are like, I can't believe you're getting your kids involved in this. And I'm like, why? It's literally like watching a kid spin around on play equipment at the park. Yes, like we're not being sexy in front of them. All they do is they're looking at it, they're having fun, learning skills, gymnastics skills on the pole. You know, learning how to hold themselves, learning how to support themselves, doing flags and stuff. My one daughter, her favorite thing was climbing, and then she would spin down, and she loved the feeling of her hair. She's like, It's like I'm flying. Oh, yeah. And it was, it really was like she was flying, and so she loved it because she could fly.

Hayley 1:19:09

Yeah, I mean, it must it must take a lot, like incredible core strength to do it. Yeah, and it reminds me of watching Cirque du Soleil. Absolutely, those acrobatics or those acrobats doing their work. So, yeah.

Flynn 1:19:27

Well, very cool. Uh thank you for sharing that. I was excited to hear about that too. I've never done pole dancing, but for a while there in in university, all my roommates that I lived with, like we had seen some documentary about it, and we're just talking about how it seemed so like fun and empowering, and we tried. We did try to go to classes and it never worked out, but oh no, yeah.

Paula 1:19:49

No, it's really neat. And I mean, I don't know if you know much about this, but I mean, you can have poles that aren't grounded at the bottom, so like they almost like spin around. So there's a lot of guys end up doing that, and um the poles actually have a spinning mode, so some people think like you actually have to have the momentum where you don't, like it's like all you need is the grip, and then you just spin around and get yourself going and stop yourself. So that actually requires an incredible amount of core strength to to hold the pole on spinning mode.

Hayley 1:20:21

Sure, I bet. Paula left us with a crucial message to remember.

Paula 1:20:37

ALS is the expertise. That's one thing. From an advocacy standpoint, um, listening to our story, including us um in research and decision making is absolutely crucial. Also, ALS is not necessarily the end of your life, too, for those of us who end up being diagnosed with it. You are going to meet an amazing community if you're open to it. So don't be afraid to get out there, live every day to the best of your abilities, and use your expertise to, you know, improve this ALS landscape for all of us. And don't be afraid to share your story, to meet others with it. And, you know, for those caregivers, you know, it's okay to reach out to one another and even to people with ALS. Don't ever feel like that you're a burden for bringing up your uh concerns too. Because you know what? It's awfully comforting too when you hear that other people have something very similar, that they're having a similar experience and how they're getting through it. You're gonna learn a lot from those of us that have lived with this disease for a long time. And um it is healing for those of us who have lived with it a longer time to share our wisdom and uh insights with others as well.

Flynn 1:21:53

Beautiful. Well said.

Hayley 1:21:54

Yeah.

Flynn 1:22:04

All right, well, that was quite the conversation. Yeah, learned a lot. Yeah, the big thing that I think I took away that sort of continued to come up in little bits and pieces is the way that ALS, like any other social issue, is ultimately an intersectional issue where things like your geographical location, your socioeconomic position, predispositions in terms of mental health, physical health, you know, your race, your sexuality, all of these things are going to play into whether or not you're going to be able to receive access to care. Paula does a very good job depicting the ways in which this is an intersectional experience.

Hayley 1:22:44

Yeah, she does. And it's good to know that somebody like her is working so hard on the advocacy front for the ALS community. She's very easy to talk to. She is very genuine. Yeah, some of those questions we asked are like more difficult, but she doesn't shy away from the difficult conversations. That's a really important thing. She's just a good example of somebody who's doing a lot in many different ways to help the community. Also, just the sheer courage, honestly. I mentioned that a little bit during the conversation. And I do believe this for anyone who chooses to participate in a clinical trial. I do think it takes even more courage if you're participating in a phase one trial where you don't really have established information about safety. So it's all experimental. That's important to understand. But phase one is like the earliest stages of experimental. So the risk is potentially much greater than the benefit. Or there's less of an ability to do a really good risk-benefit analysis if you're trying to yourself consider whether or not you're going to participate in something. So my hat's off to Paula and all the people who participated in that particular clinical trial, and all the people with ALS who choose to participate in any clinical trial, really. It's really quite something. Uh, it is making a difference for the community as a whole.

Flynn 1:24:16

Absolutely, and it takes a lot to act really so selflessly. Paula is very lucky to have experienced, you know, positive side effects from Tofersen. But as we discussed, there are a lot of people who who have not experienced um nearly as positive side effects, right? A lot of people participate in these clinical trials expecting that, you know, under the impression that likely this isn't going to work, but hopefully I'm moving the needle forwards for future generations, and that comes back to that generational advocacy point that is so important to Paula.

Hayley 1:24:50

Yeah, that's true. And she's still a young woman, you know, sort of middle of her life, and she's had an amazing life so far, and I'm sure she's going to continue to have an amazing life. And I think I mean what she said at the end there is is true too. I mean, this is probably being a little overly philosophical, but the truth is we're all dying. Um, so certainly having ALS means it's in your face. It's in your face. Once you've been diagnosed with it, you're not forgetting that that you're on this path towards death. Um so yeah, I mean, she's making the most of every day, and love the story about the pole dancing. What fun, right? You know, she just knows how to enjoy herself too.

Flynn 1:25:34

Well, the pole dancing is great too, because not only is it it's fun and it can be empowering for so many reasons, you know, there is a stigma around it because it's something that's been so sexualized, and I don't think there's anything wrong with that. For the people who are doing pole dancing because it makes them feel sexy and they feel sexually empowered. That's that's incredible, but that's not the case for everybody. It is nevertheless an empowering activity being a young woman when you're diagnosed with ALS. Like, I I would imagine that that would really impact your your self-esteem, you know, the way that you look and talk. And for somebody who was very expressive with their body too, like I don't know, it just seems like a very full circle thing to come back to something like pole dancing, and it's you know, reclaiming your athleticism and reclaiming your body. Like, I think that's great.

Hayley 1:26:22

Yeah. Good point, Flynn. Thank you. That brings us to the end of today's episode of Originals More Than ALS. We'd like to extend a huge thank you to Paula Trefiak for joining us and sharing her story.

Flynn 1:26:39

We did make an error in this episode, what we referred to as the ALS Canada Burden of Care Survey. It's actually called the Cost of ALS survey, and it is a highly important study. To participate in this survey and to access a full list of resources mentioned and references used in the creation of today's episode, please check the episode description where you'll find all the links you need.

Hayley 1:27:01

If you're enjoying originals more than ALS, please like, comment, share, rate, and follow us on the podcast platform of your choosing. Not only do your comments help us improve the show, these actions really help us to branch out of our immediate circles, recruiting a broader audience to join us in the journey for a world without ALS.

Flynn 1:27:22

And if you'd like to share your story on the show or suggest what you'd like to hear us talk about next, feel free to send us an email at originals.morethanals@ gmail.com.

Hayley 1:27:32

Thank you so much for listening. Join us again next month where we'll speak to another member of the ALS community about their experiences and the passions that make them more than ALS. Bye for now.