The Medical Detectives - Tracy's Story: The Blistering Truth

Episode Date: April 30, 2025

This week Anna and Erin welcome Tracy, whose years long struggle with bone-deep exhaustion, persistent sore throats and sudden blood blisters led her on a winding odyssey from GPs to specialists, with inconclusive tests and tough treatments at every turn. In our “Diseases That Need a Rebrand” series, we’re asking you to help us rename this mysterious, tongue-twisting condition—email your rebrand ideas (and your own medical mysteries) to [e-mail], and drop us a rating and review, and share the episode with someone who needs to hear it. ***The information provided on the medical detectives is for informational and entertainment purposes only and should not be considered medical advice. While we may feature licensed medical professionals, including doctors, we are not your personal doctors and no doctor patient relationship is established by listening to this podcast or interacting with our content. All discussions are general in nature and may not apply to your specific health situation. Always seek the advice of a qualified healthcare professional before making any medical decisions or taking any action based on the content of this podcast. Never disregard professional medical advice or delay seeking treatment because of something you have heard on this show If you are experiencing a medical emergency, please contact emergency services immediately or consult a qualified healthcare pro***

This week's episode, I should stop being surprised of all the things I learned because I never think, oh, there can't be something totally out of left field. I've never heard again. Guess what? It was. Well, you know, we were having a laugh because this is part of our series of diseases that need a rebrand. Oh, yeah. And if the doctors can't say it or remember it, we should probably call it something else. But that's something that we are asking your help with at the end of the episodes. We have a very special ask for our listeners and also an ask.

Again, this is another one of our listeners who emailed us and shared the story with us. So please, if you have your story that you want to share, email it to stories at TheMedicalDetectivesPodcast.com. And if you have problems remembering what that email address is, it is in the notes at the, or what is it called? The show notes? Yeah, the notes. The show notes.

The show notes. Yeah, on Spotify and yeah, and Apple. The place of which text lives below the episode. I would also say too, a lot of people are hesitant, like is my story interesting enough? And I think every person who's questioned that, that's been on the show, I've been like, how could you ever think it wasn't? So don't be afraid. Don't worry if you don't know if it's the right fit, probably more interesting than you think. So with that, just a little reminder,

if you love our show to go ahead and drop us some stars and some lovely werelords and tell your friends, because that's how we get to keep doing this. With that, I'm going to stop yacking and we're just going to get into the episode. All right, let's do it. Hi, Tracy. Welcome to the Medical Detectives. Thank you so much for joining us. Hello, hello. No problem.

Thank you for having me. Thank you. You are our second guest from Australia. I've had a look. Yeah, I had a look to see if I was maybe the first, but I wasn't, but that's fine. I'm actually from the UK. I grew up in Wales, but I moved to Australia when I was 21. Well, Tracy, can you talk to us a little bit about what it was like growing up in Wales? Can you talk to us a little bit about what it was like growing up in Wales? Yes, cold. It was cold.

It was great though. I had a great time. I had sisters and brothers and no complaints about childhood whatsoever. You know, it's just the usual childhood, no real illnesses to speak of. So when did things change? Okay, so I moved to Australia when I was 21 with my now husband, he's Australian. He came and snatched me from Wales. And so I've lived in Australia since I was about 21.

So I say at least about from about when I was 30, I've always felt under the weather something I was always tired, chronically, chronically tired. And not just I've had a late night tired, like bone weary tired, like why am I so tired? So I would constantly go to, we call them GPs here, your main doctor, just a general practitioner. So I'd go there, I would have many, many blood tests. I'm always like, why am I tired?

I eat pretty well most of the time. I exercise quite a lot. I drink lots of water. I have lots of sleep. I'm like, there is absolutely no reason for me to be tired. B12, everything, everything, everything came back as normal. So that kind of became my normal. I'm just a tired person.

There's nothing wrong. And I'd always complain to my poor husband, I'm just a tired person, there's nothing wrong. And I'd always complain to my poor husband, I'm tired. And he's like, why? I said, well, I don't know, go to bed early, that sort of thing. And about during this time, I would always get little ulcers, just little white ulcers, like if you bite the tip of your tongue, something like that, you get a little ulcer. I would get those. It's like a canker sore?

Exactly. Yeah. So I would get those. It's like a canker sore. Exactly, yeah. So very prone to those. Then I just started getting sore throats all of the time. So, you know, when you get a sore throat and you think, oh, I'm gonna get tonsillitis, or I'm gonna get a cold, something like that. But that would never get sick. It would never develop.

It was always a sore throat. So I'm like, what is going on? So, con... Was there anything that you would do that make the sore throat. So I'm like, what is going on? So, was there anything that you would do that make the sore throat better? Not really. No, no. And it wasn't terrible. Like I've had tonsillitis as a child. That's horrible. But just sore throat. It became to a point where I had a sore throat more often than I didn't have a sore throat. Again, nothing wrong. There's nothing wrong with you. Okay. It just because... Were you ever put on antibiotics or what?

No. So it didn't develop into anything as in a cold or the flu or anything like that, just a sore throat. Okay. That's another thing to add. So I'm just curious here, you were asked to live with, because just having a sore throat constantly, does it to me seem like nothing? I know that you probably were told that a lot, but I don't think that's nothing.

Right. You get used to it. Is the thing I hear this from people when they come on and get used to it, but it still makes me frustrated. Yes, it does. It does. And I went quite often. So I'd go and see a doctor, I'd have some more blood tests, just the standard blood

tests and they'd all come back in normal and I'd be like, okay, let's try maybe some more exercise or let's try some yoga, you yoga, but nothing would ever make me feel great. So I would just continue. During all of that time, I had children and I studied and I worked. So I just kept going. It's like, okay. How did that feel? How did that feel to kind of live with this chronic sore throat without resolution. Yeah. Most of the time I would just be like, okay, let's get on with it. Let's just get on with it. Occasionally if I thought about it too much, I'd get annoyed and oh, but I'm the type of person that will quickly snap out of that. So if I get up and I'm like, I'm tired, I'm tired. Oh, well, let's get on with it. Go for a walk.

That'll make you feel a bit better and keep moving. Why do you think that you just got on with it? Why do you think that you didn't allow yourself to be frustrated? I don't know. That's my personality and it's almost to a fault probably. If I'm unwell or something like that, I won't tend to rest or I'm quite annoying actually come to think of it. So you are living life with these inconveniences of sore throats, canker sores, tiredness.

You just work around them even to the point, I remember trying to use an electric toothbrush because it's supposed to be better for you and they would just break out all over and twice I did that so I thought I can't be the toothbrush twice it took me did it again it's the toothbrush so any sort of um raw not even trauma anything they would just pop up so again it, it became a thing of, oh well. Did your dentist have anything to say? Not really, no. No. Because they're just ulcers. Just ulcers. And I do a lot of research and there are a lot of people who live with little cankasaurs. It's a thing. It could be from B12, it could be from this. And of course I start taking B12 and lysine and nothing changed. So it became a thing of yep okay it's just how I'm going to be and then it all of a sudden changed in about 2020. So one day I sort of felt like something was stuck in the roof of my mouth.

I don't know what's that so I go and look in the mirror and there's a big blood blister in the roof of my mouth. I'm like, what's that? So I go and look in the mirror and there's a big blood blister in the roof of my mouth, which is quite alarming. And oh, yeah, like it's dark red. It's about a centimeter dark red blood. And I'm thinking, oh, that's unusual. So I go to the doctor. Doesn't really give me anything to be honest. You know, I saw it and I'm quite alarmed. I'm like, that is not a normal thing to have in your mouth. So I go to the doctor, no real answers, no blood tests other than the standard ones. No real, it wasn't like, oh, that's unusual. Let's go and investigate it, sir. Then nothing like that. So I'm thinking, okay, well, stop being a baby. nothing like that. So I'm thinking, okay, well, stop being a baby. That's a blood blister. I said, I thought that, he didn't say that. I'll make that clear. So I'm thinking, well, that's really not normal. Now the blood blister were becoming more and more severe. So it

started off probably, I don't know, maybe once, once a month or so. They started to escalate and were getting worse. So it was some points I was getting them maybe three times a week. And at this point, I still had no idea what it was. So I could feel them pop up. And generally they seem to happen in the evening. They had quite a routine, which was really strange. So I would get them generally in the evening. I could actually feel them pop up. So they're not like blisters that you get on your foot that go over time.

They would be in a second. And sometimes I could feel them getting close to the back of my throat, which could be quite alarming because I don't know if this is an anaphylactic thing that is starting to be triggered. And I'm thinking, boom, you know, oh my God, is my throat gonna swell up next time? And with the blister-

Did they ever pop? They would pop straight away and blood would come out. So you just have a mouthful of blood. So what would happen is within a second, and I got used to being able to feel there's a blister there now. So in a second, it would go from nothing to sometimes we're talking about an inch long blister

in the mouth. Straight away, look in my mouth, there we go, there's another blister. Full of dark red blood, they're really red blood. They would pop within probably about a minute. And that's where the problem starts because the skin all around the blister will, it's like it disintegrates.

So it's not just that one blister, it's the whole area of the skin. And for about five days after, it would be so painful, so, so, so painful. And depending on how big the blisters are, some of the worst ones I just couldn't eat, it would hurt too. Just the action of breathing, the air going over the skin was painful. It was awful. So painful, absolutely painful. But I would, yeah, I just keep going. I don't think I ever, I only called in sick one time for work where I must have had them down

my neck at that time inside. And you can never see them, of course, is the thing. To look at me, you would have no idea that I had anything. And I remember one day I couldn't just to move my neck was painful. And that day, I'm like, I can't just to move my neck was painful. Then that day I'm like, I can't go to work today. I've had enough. That was one day I was like, I've had enough. I'm not going to work. But I only had one day off and then I just went back to work because what is the other option sitting at home with your blisters thinking about it? It's not going to do any good at all. And the doctors would say, try a salt mouthwash. Right?

Oh, salt in your wounds. That sort of thing. That's exactly what you want. And any treatment wouldn't work yet. The only thing that would help funnily enough was warm liquids. You'd think cold would numb it, but warm would help. And in nighttime when they dried out seemed to be the worst. I don't know if you don't have as much saliva

or something at nighttime. So they were, so there was a suggestion of keep a food diary. It's just something that's triggering it. Great idea. Great. Okay. Let's do that. So I keep a food diary and I notice another symptom too. My skin has always been very reactive to certain things. Not that I can pinpoint most of them. Like, you know, just today I took off some tape for a sore knee and my skin's all gone weird. But things like if I touch a pumpkin or a vine plant, the skin on my fingers will peel off, which is not really normal. But again, that became something that I lived with. Why? You just told me your skin peeled away if you touched a pumpkin. I know it because I saw doctors for that too and there was no real... Oh, that's weird.

Nothing? No, not really. Would it just be the part that touched the plant, like your fingertips, if you touched a pumpkin, that would peel or what was the peeling? Weirdly enough, no matter what part of the pumpkin I touch, it would be the same area that would peel. So even if I go try to garden and it would touch my arm a little bit, I would get a kind of a little rash, but not peeling.

And it was always the same. My finger would, it was sort of the skin would go slightly hard and then over two weeks it would peel off and that was quite painful, especially in the bits that fold over. Again, I just stopped touching plants. So I kept a food diary and what I noticed in the food diary is that if I ate raw fruit, I would get blisters, specifically blueberries, strawberries, which are delicious, especially here in the summer, not bananas. So certain fruits, strawberries, blueberries, that sort of thing, that now became an issue eating those. And the doctor suggested that I had something called raw allergy syndrome.

Never heard of it. So apparently there is a syndrome you can have where your body gets confused with some sort of pollen from trees and reacts to raw fruit or vegetables. Sounds made up. I have a friend who's got no interest in food and she certainly doesn't like fruit and vegetables. So she's like, I kind of wish I had that. But you do not, stop it. Who was making this diagnosis? Was it an allergist?

Were you seeing an ENT surgeon? No, I hadn't seen any specialists at this point. Oh, of course you haven't. Why would I? That's crazy. Why would you? These giant blisters exploding in the back of your mouth. They're just skin peeling, blood blisters, pain, raw fruit, weirdness going on. Why would I see a specialist? Normal. Of course. So these kept going and going and going. And when I cut out the raw fruit, it did seem to get a bit better. I was still getting the blisters, but less. So I was hopeful that this was the

answer. So I had saw the GP a few times, obviously a GP. They're really good at what they do, but as you said, you need to see a specialist. So I made an appointment with an allergist myself in Sydney. You didn't need a referral. There was like an allergy clinic. And with all the issues with my skin, I'm thinking I have to be allergic to something. If something's giving me blood blisters and it looks like it's lost root, I must be allergic to something.

I have to be. So I go and see them. They do the prick tests and everything. It's all completely normal. Nothing. I do not react to anything. And bearing in mind, just this morning, I took off some medical tape sort of stuff on my knee and the whole of my knee is completely red

and raised and awful. But the skin prick test, nothing. Not even grass, nothing. I'm not allergic to blueberries. I'm not allergic to strawberries. Nothing. It's all completely normal. And I had pinned my hopes on this. I'm like, I must be allergic to something. This is what's causing it. So when I went there and they said it's all normal, I was gobsmacked. I'm like, how can that be? It was really disappointing, really disappointing because it did feel like it fit. It's not ideal. It's not something you want to have to deal with, but it's not life-threatening. There are worse things to have to cut out.

You know, it's not anaphylactic. So I kind of pinned all my hopes on that for a while. Great. This is it. And then when I realized it wasn't, yeah, it was just, oh, here we go again. Here we go again. And that, that feeling will be last for a little while until you make another appointment with another specialist and then you pin all your hopes on that.

And you're like, okay, this person is going to fix everything. This will be it. They'll get an answer. And then you come out of that doctor's room and you know, if you don't get any answers at all, every time it's pretty devastating. It's like, oh no. And that will last a little bit. It's like a roller coaster. That will last a little bit. And then I will pick myself up again's like, oh, no. And that will last a little bit. It's like a roller coaster. That will last a little bit, and then I will pick myself up again and like, all right, come on, let's go again. So it's up and down, up and down.

So to get nothing back from an allergy point of view was, I'm just, I don't understand it. I'm like, now what do I do? So I went back to the GP. I don't know how many times I've been at this point. And he referred me to an immunologist finally, Ray, someone who may be able to help. And I got an appointment with them in Canberra,

which is about a three, I live in regional Australia. So my next closest city is Canberra, which is about a three-hour drive, so six hours all up. So I got an appointment with them through the public system, so there's public and private in Australia. And they said, we'll give you an appointment. And I told them all about my symptoms on the referral. The appointment is available in a year.

How long have you been experiencing these for now at this point? Oh, I reckon two years. Oh my god. About a year and a half. Yeah. So I get an appointment and they said, we'll give you an appointment in a year. How did that make you feel? Not good.

Not good. And see, and every time you get an appointment like that, you think, well, they know my symptoms because it's in my referral. Clearly, it's nothing that bad. You kind of think. You assume they've read anything about you. That's right. Before scheduling your appointment. And then I actually got a letter, a letter from them in the post, a real letter saying, we're going

to have to move your appointment to about 18 months. So it went from a year. I'm like, okay. I got the house. All right. So at first I was like, okay. And then I'm like, okay, let's just deal with it. And then they got another.

And then when I got the letter, oh, we're moving it to 18 months. I mean, I get it. It's a public system. they got another and then when I got the letter oh we're moving it to 18 months and I mean I get it it's a public system all of that so then I saw a general surgeon in my area to try and get a biopsy of one of the ulcers or blisters which would ultimately show what they are so I went to see her she had no idea I mean I mean, she's a general surgeon, why would she? I'm just hoping someone had seen it before. So she said she didn't think a biopsy was necessary. Okay, I'll listen, you know, she's a surgeon,

I'll listen to her. Go and see an immunologist. And at that point I hadn't. So I made a private appointment, which I have to pay for in Sydney with an immunologist. I go and see her. She does more allergy testing and no real answers. She thinks it might be something called angina bullosa, which is basically blood blisters. And of course I've done all through this time I've done my own research trying to find anything

and I can't really find anything. There's a couple of rare things that come up but I can't really find anyone who's having this issue. Angina bullosa kind of fits in, but not really. It's more of just a description of what- Pretty much, yeah. It's not wise. Exactly. So again, she was lovely, but no real answers. She really didn't know why. And I left that one again. What am I going to do now? Where am I going to go now? Who can I see? There's nowhere else to

go. So she had said, we'll do another blood test for these other things and let's see if anything comes up. It's kind of like an offhand kind of, oh, let's just do another blood test. I genuinely don't think she thought it was because it was so off the cuff. It was kind of at the end of the appointment and she said, oh, we'll just do another blood test. It wasn't, let's get these done. Let's see if it's this, let's form a plan. It was more, oh, let's just try that one. Maybe, when you get around to it, that kind of thing.

So my impression was, I'm pretty sure it's not this, but just in case. Okay, okay. At this point, I'd done many, many blood tests. I'd seen so many doctors and asked so many times that I had kind of, I remember saying to my husband, I'm just, this is just something I'm going to have to live with. I can't, who else do I go to?

But at this point, I've kind of given up trying to find out. I'm just going to have to live with it. Just a misdiagnosis, Erin. Come on in. I know you're there. You're in the apathy stage. Yeah, you just say, I've spent so much money. I've traveled so many places.

I'm not getting any answers. I'll just wear gloves to garden and not eat any nice food and just deal with it. So I left there and I remember thinking, well, it's done. So she had given me this blood test form and normally I will get blood tests straight away, but I was so over it by that point. I just waited a little bit and then I thought, oh well, I may as well go and just get a blood test. So I had this blood test come back and then that triggered off the whole diagnosis saga. So a blood test came back. Yes. It just doesn't end. You think it would just be

immediately, you know, diagnosis, let's get treatment, but no, it continues. So there was one blood test and at this point, everything in my blood is normal. Everything. CRP, which is an indicator of inflammation, somewhere in the body. It doesn't tell you what, but it means you're unwell somewhere. Always normal. Everything is normal. Apart from this one blood test.

ESR, another one. Yeah, ESR was normal. So even if you have the flu or something, something will show up. No, no, all normal apart from this one blood test, which is a DSG3 antibody test. So this is an antibody. It's Desmogline 3. So Desmogline 3 is an adhesion protein in your desmosomes which governs your cell adhesion so it's the sticky substance in your cells it's the glue that keeps your cells together. That came back as

extremely high. So this one blood test out of probably hundreds I've had at this point had come back as extremely high. So the immunologist in Sydney had organized these blood tests. They had also got sent, somehow I don't know how they got sent to Canberra immunologist, but they did. That this is the one that, um, was the 18 month appointment. Oh, so they still hadn't seen you yet. No, they hadn't seen me. I just let that one go wild and see if anything comes up. Eventually in a few years, they might call me. I was like, I forgot about you.

Um, but that triggered a phone call the next day after the blood test. And I'm thinking, oh, oh. Mysteriously, they now have time. Suddenly? Suddenly. That changed from 18 months to the day after. So I'm like, okay, that is not right. So she said, what I need to do to 100% confirm the disease is to have a biopsy of an ulcer or blister that is fresh.

What you asked for originally. Oh yeah, that's right. I could have had that a couple of years ago. And so I need a biopsy of a fresh ulcer. It can't be one that's a day old. It has to be like within a few hours. How? Exactly.

Exactly. So, and they're, they're usually at the back of my throat, which is a problem. If it was on my hand, easy, easy peasy. Yeah. Take it. Back of your throat's a bit of a problem. And so I rang a few places, I'm thinking, how am I going to do this? Because like I said, these blisters pop really fast and I'm just not sure how I I going to do this? Because like I said, these blisters pop really fast.

And I'm just not sure how I'm going to schedule this and come in in time so they can have a fresh blister. I was working at a doctor's surgery at that point and I was helping manage the practice. So our GPs did biopsies all the time. Not really at the back of your throat, but I'm like, I can't move on until I get this biopsy. So I asked one of the GPs to do the biopsy, a punch biopsy, it's

like a little cookie cutter, and I said can you do that? And they rightly so, they were like, I'm not, you know, it's in your mouth. Biopsies of the mouth. I said, look, I don't have any choice. I need to get this done. So I was camping at the time and I had a blood blister pop up at big one, a nice, big, juicy one. Perfect for a biopsy. So I raced there and I'm like, can you please biopsy this?

Took a bit of persuading. I said, I won't hold you accountable for anything. So you basically got your boss to, or one of the surgeons there, right? To do a, like a cookie cutter. So I, you know, convinced him to do this and the nurse is there. And he says, hold this bucket, because I don't know where all the blood's gonna go it might go down the back of your throat and I remember thinking I don't know about this now oh well in we go so we did it and it was fine actually it was it hurt after but obviously anyone's mouth would hurt after that so sent it off I'm like great so. So it comes back. And of course, these biopsies, it has to be put in this special fluid and do this special thing.

And if you don't get that 100% right, it's not going to work. So it came back. It's consistent, but not conclusive. You got to punch your throat again. I'm like, oh gosh. Okay, so the immunologist in Canberra at this point said, we're going to have to get you under a duogastroscopy and get some biopsies throughout your esophagus under sedation this time.

Even I'm not keen for that to be awake. We're going to do that. In the meantime, I really want you to start taking prednisone and an immunosuppressant because this disease is very serious and it can still be fatal. And when they told me that I might have something that could be fatal, I was shocked. I genuinely never thought because they're blisters, horrible, really painful, but in my mind, no one's ever really died of a blister. So until steroids were invented prednisone, it was 95% fatal. Yeah. So without, and I remember, because steroids, I know the side

effects of steroids and I started off on, oh, I think my first dose was either 80 or 60 a day, 60 milligrams, which is a huge amount of steroids. Yeah, it's very high. And I knew the side effects and I actually delayed it because I knew what the side effects were going to be and plus an immune suppressant on top of that. So I delayed it for about a month because I don't really do this. And I remember saying, do I have to? And she, her words were, there still is a mortality risk. Okay. You know, that kind of persuades me. I guess the trade off is in that case. What do you do? What do you do?

If you don't have treatment, this disease will kill you. So I really want you to start taking I guess the trade off is in that case. What do you do? What do you do? If you don't have treatment, this disease will kill you. So I really want you to start taking this. I just want to take a pause. This woman just told you that if you don't take this medication, it will kill you. How are you feeling in this moment? When I first got the phone call from Canberra, cause it was a phone call and she's reading all this out, I wasn't prepared for it at all because at this point

I'm still thinking it's nothing serious because I've seen so many doctors if it was something serious. Like how can you have a disease that could without treatment kill you, but have no other abnormal blood tests. It's crazy. Like everything is fine apart from this antibody test. How can that possibly be? So in my head, it's like, huh, I just, I was still catching up at that point. It was, there's a lot of information.

Everything went from me chasing doctors and trying to get answers to them contacting me. So it was nice. When did it sink in that you really had no choice? It took a while. I got the script for those meds and I didn't take it for probably six weeks. I didn't even take them, which is a bit silly in hindsight. Did you get them filled or did you just hold the scripts? No, I just kept them. I just kept them. And with any immune suppressant, the side effects are quite drastic. And Frednazone, well, I mean, if you get some sort of infection, you might not be

able to fight it off. With that immunologist, I ended up having three different immune medications because they weren't working. One of them was wrecking my other organs in about, it's only about five weeks of taking it. All of my kidney levels were deranged, my liver was deranged, everything was going the wrong way because of that. And of course, if you get sick when you're on it, that's not ideal. And prednisone, if anyone has ever had it, even in a small dose, that stuff is awful. You can't sleep. You kind of just blow up. I remember my face sort of just blew up. Like my eyes were kind of squinty because it just inflamed.

So even within a few weeks, literally my face was different, which was weird. And it made me gain weight. And I remember thinking really weight gain is the least of your issues right now, but still I'd worked really hard to be happy with where I was at with my fitness and my weight, so to have something else just take over without any control was really annoying. And I was cranky and steroids make you cranky. It's like roid rage. Steroids make you cranky and they have just so many side effects. So I started taking, it was either 80 or 60 milligrams of prednisone, a high dose daily

and the immune suppression, but I still have to have this gastroscopy and get the biopsies throughout my esophagus. I'm like, okay, great, I'll do that. So I had the gastroscopy, had the biopsies. Finally, this has to be the answer. And of course all of this is time as well, so you don't get to go and have a gastroscopy the next day, you've got to wait. So it was in I think a couple of weeks I had the surgeons at the hospital did the gastroscopy and then I got the results back. So I go and see a GP and she very casually says, okay so it's definitely this disease.

Hooray! Finally. But there are a few variants of the disease I have. There is a rare variant of this disease. So there's a rare variant of the rare disease. The biopsy that I had showed cleftin in some of the skin cells and I can't... they call it something to do with tombstone. It has like a tombstone appearance in the cells and I'm probably not explaining that very well, but this was consistent with the rare version of this disease. Now the problem with this is if I have this type of this disease I definitely have cancer as well. I know so I'm laughing because I'm like at this point come on what what you know you are not the

first person to laugh over cancer on this podcast. You just are like, come on, just give me a break at this point. So the disease I have is triggered something. So you're born with it, but it gets triggered about middle age. But that's what it looks like is that this particular variant, you definitely have cancer and that's triggered it and it'll be somewhere in there. So I've gone from having a potentially fatal disease at this point, I still really don't know much about it and

nobody does to now also having possible cancer. So it's like... Don't you wish it was just you were allergic to the pollen on the vegetables now? Yeah, turns out that if only it was just raw food allergy syndrome. So I went and had a head to toe PET scan, which is PICS up any cancers. And I had to wait two weeks for the results of that. So I know. What was that like? That's a long time.

That's a long time. So in my head, you know, generally day to day, you kind of, you're distracted a bit, but it just kept popping back in my head, especially at night time. And you try not to let yourself get carried away because there's all, you know, there's no, not, I was going to say, there's no point in worrying about something you can't control, but that's not what I mean. You know, it may not be so you flip and flop, you know, oh my God, You know, it may not be. So you flip and flop, you're like, oh my God, two. But it may not be two. So two weeks is a long time.

Got the results back, no cancer. Thank God. But I thought you had to have cancer. Turns out I didn't have that particular variant of the disease. I just have the rare one, not the rare rare one. So what had happened when they looked into it further, because the biopsy showed cleftin and it had a tombstone appearance and blah, blah, blah.

Because I like depressing too, that it's like a tombstone, like a grave marker, right? You really have to, could you not just call it a rectangle? Something? It's the death lock. Sorry, I shouldn't be joking about this. But you have to. I mean, what else do you do? It turns out because I'd started the prednisone, which I was told to do, it had affected the biopsy in a way that made it look like this.

So there was an explanation. So they amended the report and so all of that was a little bit unnecessary. Thank goodness. But on the plus side, you know, I had a PET scan, there's nothing there. Fantastic. So at each point, I'm like, okay, let's just go with the good stuff. I don't have cancer. You've gone through all these diagnostic, you've done lab work, you've done biopsies, you've done PET scans. Do we finally have an answer? Yes. So I have the Pemphigus vulgaris, which is a horrible name for the disease. Sounds like a Harry Potter spell. It does!

I was thinking the same thing. Were you like turning to something ugly? Yes. It's a horrible name, isn't it? So my body attacks and destroys the sticky substance that keeps your cells together, which is not great. I don't know why it does that. So vulgaris is anywhere throughout your mucous membranes. Gotcha.

Mucous membranes are in many places, your eyes, your nose, your mouth, stomach, et cetera, et cetera, so that particular variant, that's what that does. There is pentagus, which attacks the skin on the outside so it's probably why my skin is so sensitive. So you can get blisters on the outside but mine is pemphigus vulgaris. Now it's pretty rare I think I had a look at how many people have it and there isn't many. So the Australian blistering diseases foundation says it's about 1.3 to 2 per million people have it. Wow. I know. And in the US, I had a look at the US,

about 17,000 people have it. And I think your population is about what 230 million or something. That's a lot. So yes, you know that you know that and I have absolutely no clue. I could be completely off the box there but it's very rare. No, you're spot on. You are spot on. I had to come up with that statistic myself. And so for our listeners, I usually like to give a little breakdown of what these rare diseases are. Because it's hard to explain. It's very hard to explain but I'll try my best.

You can think of the skin and the mucosa as layers, right? Yes, exactly. You have your, most people know the skin, like the epidermis, the dermis. And if you think of those layers like a sandwich, your disease is attacking the mayo, right? The mayo is what keeps those layers together. Exactly.

And if you don't have the mayo, the layers slide apart. And that's if you think of a blister, right? There's rubbing between the layers and the layer separate and it fills with fluid. So in your case, in your mouth, you were forming these blisters that created separation between the layers that was filled with the blood because probably the blood vessels were torn

as part of that process. And the reason why your labs were all normal was because it's a genetic disorder, right? If you had, I'm just pulling diseases at random, but if you had cystic fibrosis, which is a disease of your lungs, and you took a blood test for the cells that are in your blood, it would be normal.

But if you ran a genetic panel on the actual chromosomes and genes, you would find the problem. So that's why going back to our earlier conversation about you kind of have to know what you're looking for to order things, right? If no one ever ordered that DSG3 test, you would have had forever normal labs. Exactly.

Everything would be normal. My brain is still trying to comprehend that there's like stuff between our layers of skin. Like in my mind, there's nothing there. This is an entirely new way of looking at the layers in the body for me. Like the fact that this even exists is something I didn't understand about my body.

It's so random, isn't it? Why on earth does my body specifically attacks that? Yeah it's nuts and that's why no one's ever heard, like nobody's ever heard of it. I've been to so many other things and I've been to hospitals for other things and they've never heard of it. They're like, can you spell that please? I don't know what they, never heard of it. I know it's dumb. You're just really into Harry Potter.

Yeah, I wish they called it something else. I remember only one time I went to the hospital for, because it was so painful, just one time, and they hadn't heard of it. So did they determine that the vine vegetables and the fruits that that is a trigger? It turns out that the acidity of the fruit, which is why the raw fruit does it rather than the cooked fruit, is doing the issue.

Some people with this, the disease have other triggers, but fruit and that acidity just happens to be my trigger. So I continued seeing the immunologist in Canberra and we tried three different immune suppressant medications on top of the prednisone and none of them were working. I think one worked, it suppressed the antibodies, it suppressed my immune system, but that was the one that was wrecking everything else, So, you know, that couldn't work. So I, throughout all of this, I keep doing my own research and thinking there has to be a better way.

I can't stay on prednisone forever because this is just not something you can do. So I came across a medication called Ritiximab, which is an infusion. So the best way to describe it is similar to, it's not chemotherapy at all, but it's similar to a very low dose chemotherapy, very low dose in that it suppresses your immune system.

And so you have this infusion and the idea is it suppresses your immune system, which stops the disease doing what it's doing. And after doing some research, other countries are using it. It's like a gold standard for this disease. I go to the immunologist and I say, can I have Rotiximab? She says, no, you can't. I said, well, why? She said, in some patients, the Rotiximab can trigger a brain disease that is worse than your disease and there's no treatment for this brain virus.

So of course, I'm thinking, well, I don't want a brain virus too. The brain virus will kill you and there's no treatment. I said, okay, I don't want it anymore. Thank you. So I continue and then I only for a couple of weeks and I'm thinking, no, I do want reticuloma. And that shows you how desperate I was to get off the steroids. Like I'll risk a brain disease if I can just stop taking Prendazone.

I mean, what are the chances of me triggering a brain virus? Probably pretty slim. So I do more and more research and I come across a dermatologist in Sydney who and you know the website shows all this information and it says that she's an expert in pemphigus. Now I didn't realize at any point up until now that the specialist I should have been seeing for pemphigus is a dermatologist, not an immunologist. I should never have gone to an immunologist. I should always have been a dermatologist. And before this, dermatology to me is someone you go to if you have a rash or you have maybe acne or something like that. I never considered that they would do something but I mean it's skin. Like it's a blistering disease.

Erin, would your brain immediately go to see a dermatologist in this situation or like? I thought you would be seeing an ENT because just that's you know, ear, nose and throat. you would be seeing an ENT because just that's, you know, ear, nose and throat. But I didn't see an ENT until after the diagnosis to check to see what was going on still. Yeah, and weirdly nobody referred me to an ENT until afterwards, which is a bit strange when you think about it. So I was, I and ah-ing about seeing the dermatologist because again it's another trip to Sydney, is she going to be able to help me? It's another $400,

she's private. So just for our US listeners or non-people who don't have kind of standardized healthcare, what's the typical pay difference from a private and a public practitioner in this case? So public is you don't pay anything. So the immunologist in Canberra, I didn't pay anything to see her, but the trade off is you may have to wait. So generally a specialist you expect to pay, if you see them in their private rooms, maybe about $300 is about the average. Okay. But you do get some back from Medicare.

So you may get about half back. So out of pocket, about $150, $150. So for the private dermatologist that I saw, again, I could have seen a dermatologist in the public system, but you know, so that would be. Also this woman was an expert. So, you know, yeah. And it was showing that she's a world, you know, so long that would be also this one person was an expert. So yeah, and it's showing that she's a world, you know, world renowned expert, blah, blah, blah, blah. And she's even got a blistering disease foundation. Like she's done a lot of things. She's a professor and doing my research. She's the person to see. But I had

to do all of that. I had no point did anyone. Of course not. Fine. So I'm in an hour and I'm thinking, oh, it's more money, it's more travel. Is anything going to be different? So I thought, no, stop it. I'll just do it. So I went to see her. She was amazing.

She said, is it taking you so long to come and see a dermatologist? That's my question too. And I said, I can't take prednisone anymore. What do you think about reticulamab? She said, yeah, of course you can have reticulamab. Of course. I said, but the other doctor said, I'm going to get a brain disease. She's like, that's like a very rare small group of people, right?

Yeah, it's, it's, I think it's like, if you look at paracetamol warnings, nobody would ever take them. Now I'm like, well, you said I'm going to get a brain disease and die from that, but you said there's absolutely no problem. Which I was right. So but I know I'm like, hmm. But but I mean the immunologist, she was really good. She was great. I had no problem with her care that she gave me, but this is not her field.

She's probably never seen this disease before. The dermatologist, she knows all about it. So she's like, yeah, you can have a reticumab. Let's do some blood to make sure you don't have any underlying illnesses or infections of any kind. Because once you have reticumab, it's in there. It's not a pill. You can't take it out. And within weeks, I was back in Sydney hospital

having reticumab. So what the reticumab does is they infuse it into your body. It's a huge big bag. It takes, the first one took eight to 10 hours, I think, to infuse in, which, you know, it doesn't hurt and it isn't so bad. It's a weekday, I'm lying down, nurses are bringing me food.

Worst things like, I'm gonna be having a biopsy in my mouth. Again, the chillest person who's ever been on this show. The chillest person. You know what, there was a funny story there. I remember one time I had it and the nurses get you all prepped and they give you a huge dose of prednisone, about 125 milligrams before you have the infusion because it's quite common for an anaphylactic reaction. So they give you that to try and reduce the risk of that. So the nurses come in and they do all of that.

And then they bring in the medication and they got hazmat suits on. So they are, I'm like, oh, okay. What's with all of that? The medication has got its own special container. And one time this nurse accidentally touched it on a piece of her skin and she rushed to the sink right next to me

and it's scrubbing, scrubbing, scrubbing, scrubbing, like it's, you know, acid or something. And I'm about to have a liter of this injected into me. She's right next to me. She couldn't have gone in the other room. And I'm like, why are you flipping it off so much? But I thought that was quite funny because she was just freaking out. I love how you think it's funny. I would be terrified. I just thought you couldn't go in the

other room and freak out. So I'm like, okay, stick it in. And the infusion's fine. The first time I had it, they said, you have to tell us if there is any hint of itchiness in your mouth, any hint of anything going on. So I remember sitting there and I'm like, I need to have this infusion. I'm not taking prednisone anymore. I'm not doing this anymore. I need this infusion. It's a 10 hour round trip to Sydney. You know, I'm, I'm having it done. So my mouth started itching a little bit. I'm like, should I tell him? And I thought, Oh, just wait till she comes around and does it almost next time. Of course you did. Of course I did. So I started this episode long enough to know, you know,

so I started itching a little bit more and I'm thinking, oh, I'll let them know. So if my mouth's itching, I don't know if it's itchy or not, but maybe a little bit itchy. I'm not really sure. Maybe we can use, it's fine though. It's just going to get around. And then they're like, bam, they stop the medication. They get the rapid response team from the A&E downstairs and they're all staring at me. And they're like, is your throat swelling? You get, the poor doctors all just standing at me

waiting to see I'm gonna stop breathing. I'm thinking, oh no, I'm not going to stop breathing. And so we're just sitting there for about 20 minutes and the nurse saying, how do you feel? I said, I think we can just continue, just start it again. But it's just, I don't wanna come back. So we did it. It was, give it a go, give it a go. It don't want to come back. So we did it. It was good to go.

It'll be fine. So we just did it. I had two doses in two weeks. It was all fine. It makes you really tired. Other than that, I don't really get much side effects for about a week or so. I'm super tired, but over, it's been, I've had about five doses of that now every six months. It's supposed to last about 12 months, but for some reason in me only lasts about six. So yeah, when I'm on treatment

and the B cells are wiped out and the antibodies are down, it's great. I can eat whatever I like without triggering anything. As soon as the B cells come back and the antibody starts when the symptoms all start again, which happened about four months ago, it started happening again. So I just had another reticence about two weeks ago. And yes, I don't have to take prednisone anymore. I now do have to deal with the side effects of prednisone. I just saw an orthopedic surgeon actually. For my knees, prednisone is really bad for your joints. It causes all sorts of issues.

That's the side effects of prednisone. I now have issues with my hip joints and my knee joints. And at one point I had a few MRIs and they thought I had osteonecrosis. Osteonecrosis. Osteo necrosis. Something. Yeah. Which it said on the MRI possibility of osteo necrosis, bone death. Yeah.

So, so the steroids cause a lack of blood flow to areas of the bone. And so then the bone dies and that's called osteo necrosis. So yes, steroids have known side effects for bone. Yeah, so unfortunately I'm dealing with that. Like my knees are pretty bad. I can't do exercise at the moment. It's stuck. But I will get back to it. So throughout all of the journey, I've just kept busy basically. I've got a red belt in Taekwondo, I've worked full time, I studied, I got a diploma and I got two children. Just keep going, really. I'm just like Dory. That's all you can do. Just keep going. One of the reasons I did this podcast,

and I love your podcast, I've listened to pretty much every episode. And I remember thinking, I wonder if there's anyone who's done anything about panfigus. Can't find anything. And I've done so much research. I can find dry medical things, like studies, which I can't understand, but I can't find anyone's story. There's support groups and things like that. But there's nothing no one's sort of history. I will tell you that what I am always surprised at on on TikTok when I post, you know, I have a lot of educational content about rare disease. And if, you know, I'm just making these numbers up, but if I did a post about

Pemphigus vulgaris, I might get a hundred people commenting. I also have this. I, me too, you know, hearted and liked and whatnot. There is no way that it is only one in a million people. I think that now that we have more people sharing their stories in formats like this, you know, on TikTok, on Reddit, more people are able to find one another and then you can learn from one another.

Exactly, exactly. That's it. And you can say, you know, reticcimab is fine. There's a lot, there's support posts for that on Facebook and things like that. And there's a lot of people who are worried about it and because they don't know. And I didn't know at that point. But if someone has said, it was fine. You know, it's fine. You

don't have to live in a bubble or something like that. It really does help. I think it's also helpful to just provide a place for people to talk about it, regardless of whether their views agree or not. Because I think when you're making decisions about your body, it's awesome to have affirmative on your choices, but sometimes it's really good to know really clearly what those outcomes are. And it's interesting because you kind of started fully with the negative and then finding out the positive.

But oftentimes I feel like in communities, we talk always about the positive. And sometimes it's really important to mention those negative things so that you go into it holistically understanding what you're getting yourself into. I mean, some people may only have prednisone as a choice, but they should know what that means, right? Exactly. That's it. If I could have, you know, I don't, I look back now and what's done is done, that's fine. I don't really think about it too much. But if anything, if I could have not had to have taken that prednisone, and I don't have to take it because I'm on reticumab. If I could have not taken that even for a year less,

my joints could be so much. My joints causing me more of a problem than my disease right now, much more of a problem. And that's because of prednisone. So if I could have minimized that, that would have been amazing. Well, there's one thing you've shared in this episode that I think is gonna help a lot of people, which is just isolating the right doctor to go to, because none of

us would have guessed that it was a dermatologist. Right? Like Erin is the pro and she would have said, ear, nose and throat. So I think for people listening to this episode who think they might have this, at least it gives them a very clear place to start. And that is probably more than that's available in an easily accessible way anywhere else. Exactly. And do your own research too. And don't worry about going to different doctors. Because if I hadn't done my own research, and if I hadn't changed to her, I don't and I

continued along the other path. I had no idea where I'd be right. I say this all the time. When you go to a doctor, you are asking for their opinion. We are practicing medicine. We are giving opinions and it doesn't mean that that original immunologist was wrong when they told you that there was a possible brain virus side effect. They're correct. But in the opinion of your dermatologist who has more experience with patients using the drug, the rewards outweighed the risk. And so that's why I tell people all the time, get a second opinion.

Get a second opinion. Your doctor should not be threatened by you getting a second opinion. Ooh, bold words from Erin. Well, Tracy, thank you so much for sharing your story and joining us. Thank you for listening. And you are the voice of Pempagus vulgaris. You're creating what's not out there.

So you're going to help someone. I just wish they had a nicer name. Maybe you can advocate for that. I can change the name. I keep telling that we need disease rebrands. I was just thinking, actually, no one's ever heard of it anyway, so I should just make up my own name. People do that with other diseases.

They'll be like, it's the dededa disease. And then it'll have some hideous, awful name. So just come up with something like, kind of fun. Your new challenge. Your new challenge is, what is the fun name for this disease? We can ask our listeners to comment and come up with a new name, a rebrand. Yes, please.

Please help us rebrand this disease. All right, Anna, I'm going to quiz you. Okay. What was the name of this week's condition? Vulgaris garso? I heard it like 10 minutes ago. How do I not know it? Pemphigus vulgaris. Pemphigus vulgaris. And then yeah, it's a spell. It's a Harry Potter

spell. You cannot convince me otherwise. We're going to just remind you guys before we get into the nitty gritty of the comics, please help us rename this thing. You made a great point earlier when we weren't recording Erin about another condition that had a rebrand or has a different name. Can you just repeat that for our lovely listeners at home? Well, a lot of diseases and rare diseases suffer from a lack of awareness and attention because if you suffer from a lack of awareness and attention, you suffer from research interests and you suffer from lack of research dollars. So the disease I was talking earlier is ALS or amyotropic lateral sclerosis, also known

as Lou Gehrig's disease. Now Lou Gehrig was a famous Yankees pitcher, but it's just to kind of hammer home the point of, if you have a rare disease, but nobody knows about it, how are you ever gonna get help and drive the research? How are you ever gonna find other people who have the same problem? And that's exactly what Tracy was mentioning, that there really aren't any stories of people

talking about their experience with this disease. And I mean, I know we're joking about the rebrand, but having a catchier name, a name that someone like me, 10 minutes after hearing it, can remember and tell their friends about is kind of important. It seems silly or seems maybe like it doesn't have a lot of value, but that ability to share is so important. And to that point, one of the things that we were talking to her about is because these communities don't exist,

it takes someone like her to start those communities. If there's not a Facebook group, if there's not a foundation website that has great resources. So it takes us as patients to be those activators for knowledge sharing, because the medical community is really great at talking to each other, but not necessarily great at talking to the general public is evidenced by the terrible names many of these conditions have. looked it up because I had a conversation with someone who diagnosed themselves over TikTok. And the formal name for this disease is called retrograde crico-pharyngitis dysfunction. And the name that is on TikTok is called no burp syndrome. So these are a group of- See, no burp syndrome. I'm in.

You know what that is, right? I'm in. Tell me more. You can't burp syndrome, I'm in. You know what that is, right? I'm in. I'm in. Tell me more. You can't burp. And it is a problem where there is a muscle called the cricofondrous muscle is too tight around your esophagus and so it doesn't allow air to come up like a burp. But people were sharing their story online.

They're like, oh my God, I also could never burp. And I had all these other issues that were related to it. But if you didn't realize you had retrograde crico pharyngeal disease, whatever that is, but you said, wait, I think I have no burp syndrome. Right? Yeah. That's, see, that's a great rebrand. And I think that this is another great example of how sometimes patients' participation in their communities can dramatically change that disease's ability to get diagnosed, to get research dollars, to just get public interest. Like, no Burke syndrome is interesting. So we joke about it, but it's actually kind of important. And I think that if you're in a

position with a condition where there's not that out there, that it's not a bad thing to take it upon yourself to try to fight for that, as silly as those things might sound. And listen, most names are either, there can be named for the anatomic region that it's affecting, but a lot of times the names are made up

from the 18th century white men who discovered it. Right? But, you know, kudos to Tracy for coming on here and sharing her story. As we said, we have never had a more chill guest who just rolled with all the punches and... You know, it's interesting and it's hard for me to fathom being that okay with it, but every person is going to react different to their illnesses. There's no right way to react to a diagnosis.

And even though she was so chill and so different, she still went through the same phases, right? She still had that apathy. It just manifested a little bit differently. So I think if there's one thing I can take from this lesson, this podcast is now a class, you're going to get tested after. The one thing I can learn from this podcast episode is that you shouldn't expect a patient to react in a certain way. And there is no wrong way to react. And honestly, maybe her being one of the first people that are sharing the story and being so chill about it

is exactly what this condition needs. Maybe she'll make it less scary for a lot of people. So I think that, you know, who we are as people doesn't change when we get diagnosed with something. We have the same personality, whether we have a chronic condition or we don't. So it was fun to see someone that had, you know, just such a different vibe. I loved it. Yeah. Amazing. I mean, if you were told that you're going to have a treatment

where you could go into anaphylaxis at any moment and you start feeling the symptoms and you're still calm enough to be organizing and tell and orchestrating the nurses and physicians what to do next. And almost like slightly perturbed that they're worried. Like come on guys, I got this. I'm good. I loved that. Let is such a vibe. I know I'm probably overusing that word, but that is such a special reaction and good on her because if someone

had told me some of the things that they told her, like that she could potentially die from this condition, I think I might have gotten trapped in that, especially without any knowledge of anyone else successfully being treated. So I really do think it's a benefit to this condition that she was kind of the first person out there telling her story. Well, we always learn something new. Definitely. Until next time.

See you guys later. Jane Drouse. If you have a medical story you'd like to see featured on The Medical Detectives, please email it to stories at TheMedicalDetectivesPodcast.com. The information provided on The Medical Detectives is for informational and entertainment purposes only and should not be considered medical advice. While we may feature licensed medical professionals, including doctors, we are not your personal doctors and no doctor-patient relationship is established by listening to this podcast or interacting with our content. All discussions are general in nature and may not apply to your specific health situation. Always seek the advice of a qualified healthcare professional before making any medical decisions

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