All Things Amyloid
Hi everyone! My name is Mackenzie and I was diagnosed with AL amyloidosis at age 23. We don’t know the cause of this disease, but we do know that it can lead to serious and potentially life-threatening issues. This disease has changed me and my life in so many ways, and as a result, I founded Mackenzie’s Mission to join the fight against this disease.
Part of our effort is to raise awareness which, we believe, will accelerate diagnosis, enable earlier treatment, and improve patient lives. We do this in several ways, including our “All Things Amyloid” podcast. In our episodes, we will speak with patients and caregivers about their journey on a wide array of topics. We will also hear from amyloidosis experts about the medical side of this disease.
There is more hope for patients than ever before, and raising awareness around the globe is critical to improving patient lives. If you want to learn more about the work we’re doing at Mackenzie’s Mission, please visit mm713.org. Thanks for listening!
All Things Amyloid
I Knew Something Was Wrong
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Over and over I hear from patients that prior to diagnosis they knew something was wrong. No matter what the doctor said or what they saw in the test results, something was just not right. In today’s episode we’ll be talking about that feeling patients can have, their sense that something is wrong, and how that is an important motivator to keep searching for answers. I’m happy to have Dan, a fellow AL amyloidosis patient, with me to talk about patients’ “sixth sense.” For an overview of amyloidosis, please see episode 2 (for clinicians) or episode 3 (for patients).
Hi everyone. Welcome to the All Things Amyloid Podcast, where we feature patients, caregivers, and clinicians who discuss amyloidosis, a rare and incurable disease. Amyloidosis occurs when the body builds up abnormal amounts of misfolded amyloid protein, which can lead to serious and life-threatening outcomes. I'm your host, McKenzie, an amyloidosis patient and founder of Mackenzie's Mission. Our goal for this podcast is to raise awareness and share firsthand what it's like to live with this disease, to care for those affected by it, and to treat it. We hope this leads to earlier diagnosis and start of treatment, which will improve patient lives. Over and over again, I hear from patients that prior to diagnosis, they knew something was wrong. No matter what the doctor said or what they saw in the test results, something just was not right. In today's episode, we'll be talking about that feeling patients can have, their sense that something is wrong, and how that is an important motivator to keep searching for answers. I'm happy to have Dan, a fellow AL amyloidosis patient, with me to talk about that patient's sixth sense. Welcome, Dan. It's great to have you here today for this really interesting discussion that's going to be relevant to many of our listeners.
SPEAKER_00Yeah, it's fabulous to be here. Thanks a lot for inviting me.
SPEAKER_01Of course. You know, some people may think of it as a sixth sense almost, and others may attribute it to patients knowing their bodies best and just suspecting that something is indeed wrong with them. And you've experienced this. And perhaps you can share your thoughts during your journey to diagnosis.
SPEAKER_00Yeah, I'd be happy to. I think it was a bit over eight years ago when some strange things started happening with my body. Um, I was skiing. I like to do a lot of outdoor uh pursuits, and my wife and I are skiing and sort of out of the blue, um, it wasn't a traumatic fall or anything like that. I just planted my pole and tore my bicep tendon. It just sort of popped. Um, I went to the orthopedist. Uh, you know, it was easy to diagnose. Um the uh the orthopedist said, of course, you have to have surgery. Um, did the surgery, it was successful, sent me on my way. Um, think about um that anything might be more generally wrong after that surgery. Um, but then not too long afterward, um, I started to experience other strange things um with my body. Another sort of outdoor pursuit that I really enjoy is cycling. Um, and I spent a lot of time on my bike. I lived in sort of a hilly area, so I ride up and down hills a lot. And I noticed that things were going wrong on my bike as well. Um, it was pretty difficult to go uphills. I ride my bike to work and have for many years, and even my relatively easy ride to work was starting to feel difficult. So then I really, you know, that's when that sort of sixth sense started kicking in um a lot. Um I sort of had chest pains as well, and you know, there was no reason, um, nothing had changed otherwise in my life or with my body. And so I thought, you know, something has to be going on. Um I don't love doctors, and so, you know, to kind of get me to go to the doctor is is, you know, it sort of shows that I was really kind of something was tingling in the back of my head. And so I went to my general practitioner um and talked to him about these symptoms. He actually did the right thing medically, as it turns out, and ordered an echocardiogram. Um, he got the results back and he found that the walls of my heart had thickened. Um, which, you know, if you really know what you're doing, that's kind of a classic sign of cardiac amyloidosis. Um, but uh unfortunately, um my general practitioner said, well, you know, you have athletes' heart. You do a lot of athletic events, um, you're in good shape. And so I think what's going on with your heart is you just have athletes' heart, and that just shows that your heart is stronger than most people. And um, you know, of course, when some when you're sitting in in a doctor's office, somebody you trust, and they're allaying your concerns, they're saying, Oh, there's nothing to worry about. In fact, you're better than most people, you know. Um that that sort of sixth sense was still going up, you know, your brain sort of overrides that, and you're like, oh great, you know, I'm not sick, I'm an athlete, so this is great news. Um, but despite that, of course, um my problems continue to worsen. Um, and I tried to be proactive. I went to two different cardiologists. Um, they did additional tests, they sort of mostly looked, I think, for blockages, because in the United States in the 21st century, if you're a cardiologist, you primarily see um blocked arteries. And when the cardiologists um saw nothing of that, they said, uh, you know, you're slowing down on your bike, you're getting older, um, but everything looks great. And you know, again, despite that concern in the back of my mind, um, I was being told by now three different doctors that everything was just fine.
SPEAKER_01Yeah, it sounds like you hit a lot of roadblocks and dead ends when you were trying to figure out what was wrong. And particularly in in light of being told you're an athlete, you're healthy, there's nothing wrong with your heart by multiple cardiologists. How did you finally figure out what was really going on?
SPEAKER_00Well, I think um I did something that that it's hard to do, but um when you think about it, it really does make some sense. If you're not getting very good answers from a medical professional, then perhaps it's it's time to make a change. I actually changed my general practitioner. Um, I looked specifically for somebody with expertise in sports medicine. Um, the doctor I eventually chose was a younger guy. He was um uh into sports medicine, he was an endurance runner. And the first time I met with him, um, you know, I felt like he was finally, you know, I finally had somebody who was listening to me. Um I said, you know, something's wrong. And he said, you know, look, when you say something's wrong, you know your body. Um if you're say if you're saying something's wrong, I believe you, and there's something wrong. And we're not gonna stop until we get to the bottom of it. Um he sent me to get another echocardiogram. Um, had some good cardiologists at Oregon Health Sciences University look at it. Um he suspected amyloidosis even at that point. And he was right.
SPEAKER_01And you make a really great point about it not being easy, but so important and so critical to be willing to change your medical provider and and find someone else who kind of you're you're satisfied with their desire to look alongside you, you know, alongside with you while you're trying to figure out what's going on. And I think that's so important. But I want to circle back to the athlete's heart. I think that's wild that that was how your first general practitioner and those two cardiologists described your enlarged heart, um, rather than seemingly looking for more specific issues.
SPEAKER_00Yeah, you know, I think um, you know, for doctors, um it's easy to fall into sort of a routine. I think when you see 99% of your patients um that have cardiac challenges that you know are as a result of blocked arteries or something like that, that's that's kind of what you look for. Um and so you know, I think even professionals can be sort of programmed um to look for that. No, they didn't really comment on the thickened walls of my heart, other than to say, you know, the first uh general practitioner saying it's an athlete's heart. And it is true that some endurance athletes can develop slightly thicker walls, but I think with the addition of the symptoms in it, and patients saying, you know, it's not like I'm getting faster going uphills, but I'm having more problems, that that, you know, could have been um red flags. Um so, you know, and it's hard as a patient as well, because on the one hand, it's not like you're eager to hear that something is drastically wrong. Um, and so when you have doctors assuring you that you're fine, you want to feel good about that. Um, but at the same time, you know, you still have your body telling you, uh, maybe not, maybe not everything is great.
SPEAKER_01Yeah. And oh, it just goes to show that awareness is so important among medical providers, especially cardiologists, to be able to recognize these red flags that patients are coming in with and and not always assume the more common situation is to blame. Right? Having an open mind, realizing that they very well could be looking at a zebra is critical to diagnosing some of the less common conditions like amyloidosis. And just because something is less common, just because something is rare, does not mean that providers will not see it. And it's interesting, as you're telling your story, I also heard an interesting comment you made, which was your reaction to all of these incorrect assumptions, right? That it's all good, you're an athlete, those sorts of comments.
SPEAKER_00Yeah, exactly. You know, like I've said, it's what we want to hear, right? Um, and with our brain, if we're just thinking sort of with our brain, um, our brain's like, oh, great, you did the right thing, you finally went to the doctor, the doctor said everything's good, so go home and forget about it. Um, but I think it's really important, as we've kind of been discussing, to really listen to our bodies, to listen to that sort of sixth sense saying, um, you know, it's actually not true that everything's going well. Um, something just uh isn't right, and you have this kind of gut sense that something is still wrong. And I think it's really important um to follow up on that. And and I don't know, Mackenzie, I think, haven't you had um somewhat similar experience? I think like a lot of amyloidos amyloidosis patients have.
SPEAKER_01Yeah, absolutely. I I certainly did. For me, it was um really my diet my disease was discovered from a lump in the back of my throat. I didn't have any sort of systemic symptoms or kind of the more typical presentation of amyloidosis, but um I noticed this lump in the back of my throat, and I sought out the care of an uh ear nose and throat physician. And initially, kind of the same way to your athlete's heart, I got the answer that it's just due to seasonal allergies. And you know, like you were touching on earlier, as a patient, there's some reassurance in that. And initially you're satisfied by that answer. And she's like, let's watch it. It's probably your allergies, let's take some allergy medication and I'll see you in six months. And at first I was happy with that, I was okay with that. But after six months had gone by and I was noticing this lump getting bigger, that sixth sense really starts to creep into your mind, and you're thinking, okay, something's wrong here, and I'm not sure what's going on, but I don't feel like I'm on the same page with my provider. And when I addressed this with her, you know, she was, you know, dying on the fire that this was allergies. And I asked her, can we biopsy? And she said no, we have to go to the OR to do that. And all of these red flags just started creeping up. And I thought, okay, it's I need to seek a second opinion and really figure out what's going wrong because I I feel like this is something more serious than what it's assumed to be. So ultimately I got a second opinion and it was easily biopsied in the office, and sure enough, it was amyloid. So, you know, it just goes to show that that that sixth sense is very real for patients. And if you kind of continue to have that feeling, you know, it's it's worth pursuing as a patient at you know at whatever cost.
SPEAKER_00Yeah, absolutely. Um, I really believe that as well. And it's interesting to hear um, you know, the similarities in your experience. But you know, we live in our own bodies, obviously. So I think it's really important for us um to listen to them. And if we do have kind of that gut feeling that something is wrong, then we really need to kind of use that as motivation um to act on it, to keep searching, to to keep finding out what is going wrong. And, you know, as I think you alluded to, um, and and as I felt as well, changing doctors is you know, it can be difficult. Our medical system doesn't make it the easiest thing to do. Um, it can be hard to find other providers, it's time consuming, etc. Um, but I think those steps can be really important in you know, sort of self-advocating and making sure that you're gonna be in front of somebody who, when you tell them something is wrong, they really believe you.
SPEAKER_01Yeah, that's a that's a wonderful point, and something that I think we've stressed in a number of different episodes of this podcast, just the the importance of putting yourself first and doing what it takes to find a second opinion or a third opinion or or whatever it takes for you to feel like you said the person sitting across from you is gonna find you your answers that you're looking for. But I want to go back. You mentioned a really interesting um part of your story, the rupture, the ruptured biceps tendon and kind of the seemingly benign situation when it happened. And we read more and more today about the growing body of evidence to support some of the orthopedic manifestations of amyloidosis. And I'd like for you to talk a little bit more about that.
SPEAKER_00Sure. Um, I think even a few years back, um, the medical community wasn't nearly as aware of these links, these interesting links between orthopedics and amyloid. Um, so studies show that things like um ruptured uh biceps or carpal tunnel syndrome as well can be real red flags, sometimes even years before amyloidosis uh symptoms actually affect organs. And because you know, damage to major organs, in my case uh my heart, but you know, a lot of people experience problems with kidneys in particular, or other major organs, it's that organ damage that really is the major problem with amyloidosis. And so having advanced knowledge that there might be a problem can be a real game changer. So if right went up my bicep ruptured, people really, you know, the medical community really looked carefully for signs of amyloids or amyloidosis, uh, you know, I could have started treatment much more quickly, and that can be really beneficial. So, you know, it just shows that uh for people who have orthopedic issues, it's really important to self-advocate and request, like as you did um tissue biopsy. Um, you know, really, really is a significant thing, I think.
SPEAKER_01Yeah, and this brings up a really uh important point. Uh you know, what if the physician doesn't really listen to what you're describing as the issues going on? And as a patient, what do you do in that situation?
SPEAKER_00Yeah, I think it is that that is difficult. Um, I think there are some physicians that don't really listen to their patients. They sort of hear a problem, they go searching for the answer that they think it probably is. Um, you know, they need to come to a quick diagnosis, um, move on to the next patient. You know, our healthcare payment system kind of incentivizes that in a lot of ways, unfortunately. So again, I think it comes back to the fact that if you aren't satisfied that a doctor is really listening to you, you really have to advocate for yourself. Um, you could that position and really press them to try to keep them looking a little bit more deeply to truly address the things that you see as problem. Or you could change providers. But again, you know, certainly in my experience, um I found someone that truly listened to me uh and didn't rush to any diagnosis, um, but sort of started broadly and said, okay, we're gonna get to the bottom of this until we're both satisfied. Um, sort of somebody who's willing to maintain an open and curious mind.
SPEAKER_01That's when uh we we really got to a sort of I think that's that's such a wonderful and and truly uh crucial kind of thing for patients to understand because it's it's so important and a lot of patients struggle with these sort of similar frustrations that you and I have both had um about trying to get answers. Um so I'm really I'm really glad that you made that point. And this has been such an interesting discussion. Um but as we wrap up, I'd love to hear any parting words you have for our listeners.
SPEAKER_00Well, I guess I would say that if you know something's wrong with your body, you're not getting an answer that satisfies you, don't give up. Um keep pressing, keep searching, um, find somebody who will truly listen to you and really get to the bottom of the problem until you're both satisfied that you have to listen to your body, um, make sure that others um do as well.
SPEAKER_01Absolutely. Well, thank you so much, Dan. It's been so wonderful to have you on our podcast today.
SPEAKER_00Thanks a lot, McKenzie. I've really enjoyed it.
SPEAKER_01Of course. And to those listening, I just want to echo uh Dan's parting words and really stress that you really need to be your own best advocate and to know that no one knows your body as well as you do. And there are answers out there, and you must always keep searching until you're completely satisfied. Thank you for listening to the All Things Amyloid podcast. If you find our podcast informative, please follow and share it with others. If you want to learn more about the work we're doing at McKenzie's Mission, please visit mm713.org. We'd also like to thank AstraZeneca Pharmaceuticals, Alexion Pharmaceuticals, Al Nylon Pharmaceuticals, and Bridge Biopharma for their sponsorship to help raise awareness about amyloidosis. We hope you stay tuned for future episode drops. Thanks for listening.
