Leah's Story: The Vampire Diagnosis

Summary

Summary of "Leah's Story: The Vampire Diagnosis"

The Medical Detectives, hosted by orthopedic surgeon Dr. Erin Nance and content creator Anna O’Brien, presents an extraordinary episode titled "Leah's Story: The Vampire Diagnosis," released on April 2, 2025. This episode intricately weaves Rachel's tumultuous journey through elusive medical symptoms, multiple misdiagnoses, and ultimately, a rare and life-threatening condition known as porphyria.

---

Introduction and Community Engagement

The episode begins with Leah expressing heartfelt gratitude to the listeners for their unwavering support. She emphasizes the importance of community involvement in sustaining the podcast and encourages listeners to leave reviews and share the show to broaden its reach. Leah states:

“The more that people know about the podcast, the more opportunities to tell stories we'll have.” ([00:48])

Aaron echoes this sentiment, highlighting the value of listener feedback in enhancing the quality of the content.

---

Rachel's Early Life and Initial Health Awareness

Rachel introduces herself, sharing a unique upbringing marked by minimal interaction with the conventional medical system. Raised by her mother—a homeopath and Buddhist—Rachel never genuinely visited a doctor. Her mother fabricated a doctor’s persona, Joel Potash, to bypass mandatory vaccinations, resulting in Rachel’s lack of formal medical assessments throughout her childhood.

“So I never went to a doctor, but I was never really sick...” ([03:23])

This unconventional upbringing fostered a deep connection to her body’s sensations, making her unusually attuned to her physical well-being despite the absence of medical oversight.

---

Emerging Symptoms: Alcohol Sensitivity and Memory Lapses

As Rachel transitions into adolescence and adulthood, she begins to notice peculiar reactions to substances like alcohol and cigarettes. Unlike her peers, Rachel experiences severe hangovers and prolonged recovery times, prompting her to question her physical health. Additionally, she grapples with significant memory lapses, which her parents attribute to mere forgetfulness, further obscuring the underlying health issues.

“I was a lightweight... I know that my body maybe wasn't as healthy as I thought.” ([06:50])

---

Misdiagnosed Conditions and Persistent Health Issues

Relocating to Charleston, South Carolina, Rachel starts suffering from symmetrical blisters on her hands and face, which a doctor attributes to a sun allergy. Despite adhering to medical advice by using sunscreen, her symptoms persist and worsen, exacerbating her frustration with the lack of accurate diagnoses. Rachel's struggle intensifies with recurring unexplained rashes and debilitating pain episodes, leading her to seek urgent medical attention repeatedly.

“You can be allergic to the sun... And none of it makes sense.” ([10:27])

---

Critical Misdiagnoses and the Search for Answers

Rachel's relentless pursuit of answers leads her through a maze of misdiagnoses. After an adverse reaction to iron infusions prescribed to manage her anemia, Rachel experiences severe allergic symptoms, which she reports as an "impending doom." Multiple visits to emergency rooms end with doctors dismissing her concerns as psychological, labeling her as a hypochondriac despite her escalating symptoms.

“I felt like I'm not right in the head.” ([29:19])

Her determination to be taken seriously culminates in a near-fatal crisis where she convinces medical staff of her severe condition, but it is an orthopedic surgeon who finally connects the dots to a rare genetic disorder.

---

Diagnosis and Understanding Porphyria

The breakthrough comes when an orthopedic surgeon recalls a medical thesis linking unexplained chronic pain in women to porphyria—a rare disorder affecting heme production. Rachel undergoes specific testing and is diagnosed with variegate and acute intermittent porphyria (AIP). This diagnosis explains her myriad symptoms, including sensitivity to sunlight, alcohol, and certain medications.

“Porphyria literally means the Greek word for purple.” ([55:55])

Upon receiving the correct diagnosis, Rachel is treated with heme infusions, which stabilize her condition but initially cause adverse reactions. The discovery not only saves her life but also highlights the critical importance of considering rare diseases in differential diagnoses.

---

Living with Porphyria: Management and Advocacy

Post-diagnosis, Rachel meticulously manages her condition by avoiding known triggers such as sunlight, alcohol, and specific medications. She emphasizes the significance of self-advocacy and maintaining a supportive network of friends and knowledgeable healthcare providers. Rachel shares strategies like carrying glucose and candy to prevent attacks and underscores the necessity of educating both herself and her medical team about her condition.

“You are the expert in your body... Find yourself a Rachel. Find yourself a Laura. Find yourself a Dr. Kalinski.” ([73:16])

---

Insights and Reflections

Dr. Nance and Anna/O’Brien reflect on Rachel’s journey, underscoring the challenges of diagnosing rare diseases and the pivotal role of patient perseverance and advocacy. They emphasize the importance of medical professionals maintaining a broad knowledge base and being open to unconventional diagnoses.

“Doctors can discover things that maybe they're not familiar with.” ([55:43])

Rachel's story serves as a powerful testament to the resilience required to navigate the complexities of the healthcare system and the transformative impact of receiving an accurate diagnosis.

---

Key Takeaways

• Complexity of Rare Diseases: Rachel’s experience highlights the difficulties in diagnosing rare conditions like porphyria, especially when symptoms mimic more common ailments.

• Self-Advocacy: Her relentless pursuit of answers exemplifies the crucial role patients play in their healthcare, advocating for themselves despite systemic challenges.

• Support Systems: The unwavering support from friends and family significantly contributes to positive health outcomes and emotional resilience.

• Medical Awareness: The story underscores the necessity for healthcare professionals to remain informed about rare diseases and to consider them when faced with unexplained medical symptoms.

---

Notable Quotes

• Rachel: “You are the expert in your body...” ([73:16])

• Aaron: “Porphyria literally means the Greek word for purple.” ([55:55])

• Leah: “This was an insane story in more ways than one.” ([73:10])

---

Conclusion

"Leah's Story: The Vampire Diagnosis" masterfully encapsulates the intersection of medicine and mystery, illustrating the profound challenges faced by individuals with rare diseases. Rachel’s story is a poignant reminder of the importance of persistence, self-advocacy, and the compassionate involvement of healthcare professionals in unraveling complex medical mysteries. This episode not only sheds light on porphyria but also serves as an inspiring narrative of hope and resilience in the face of medical adversity.

Transcript

[Leah]

Before we get into what is indisputably one of the wildest episodes we've had, which I feel like we keep saying, but, like, they just keep getting wilder, I want to take a little moment to say thank you guys for supporting us so much. It's been really great to feel the community so involved and to also ask you guys for help so we can continue to create content like this.

[Aaron]

Yeah, we would appreciate any reviews or telling your friends. Put it on your Instagram stories. We love reading all the comments from you guys. And so the more we know what you love about the podcast will help us make better podcasts.

[Leah]

Exactly. And the more that people know about the podcast, the more opportunities to tell stories we'll have. So we're really just hoping to build a community and really drive awareness for what women face in trying to get medical treatment. Speaking of which, this episode has what I would like to refer to as a literal icon when it comes to advocating for care.

[Aaron]

Yes. I think we're going to start our own medical detectives awards ceremonies. Maybe we'll hand out little. Little, I don't know, little pills. I don't know.

[Leah]

Well, I think little stethoscopes. What you'll find out is that if she were to get an AW board, it would be a little fishy. And that's all we'll say.

[Aaron]

So with that, let's get into it.

[Leah]

Hi, Leah.

[Aaron]

Thank you so much for joining us today.

[Rachel]

Hi, thanks for having me. This is exciting.

[Leah]

I am super excited. Wednesday is my favorite day of the week now because I am a researcher, so every time after the episode, I get to go Google a bunch of stuff and it's like my favorite.

[Rachel]

Oh. So good luck to you. You will be Googling for quite a while. Oh, no, that's a good one.

[Aaron]

Yeah. I don't want to give things away, but I will say that I am on vacation and I had to do the most prep work ever for this episode. So congratulations. Thank you.

[Rachel]

Yes.

[Leah]

Yeah.

[Aaron]

Yeah. But I want to get started by asking you what was the first thing that you noticed was wrong with your body?

[Rachel]

Okay. So growing up, I definitely had a more unique childhood. Very different than the rest of my friends. So I was raised. I've always been a vegetarian. Still to this day, I've never had meat. My mom was a homeopath. Vegan. She was a Buddhist. So I was raised kind of just like really listening to my body. We. She like, for. Oh, my. I'm sorry. My mom passed away, so it's okay that I'm Saying this because she forged my documents, because it was the 80s. They didn't really care that much and would write, like, so you have to have, like, your vaccines and stuff for elementary school. And she's like, no, you're not doing that. I would make up this doctor, and she would write, his name was Joel Potash, and that was my doctor growing up.

[Leah]

So I know that's bananas.

[Rachel]

So I never went to a doctor, but I was never really sick, so I never really had a need to go to a doctor. Like, I never had any broken bones, and I didn't even have the chicken pox. Never had a flu, never had the strep throat. And then when I turned 18, I wanted to go to college and I needed to get an mmr. And she was like, well, you're not going to college. And I was like, well, you know, that's not real life. And I'm 18. So her mom, she had Parkinson's, so she snuck me into her doctor, and her doctor was like, so you've never been to the doctor? And I was like, no. And she was like, okay, so you need, like, 17,000 shots. And I was like, what's tetanus? So that's kind of my background is where I also didn't have anybody that had any medical degree looking at me ever.

[Leah]

I'm trying to process that. Your mom invented your doctor, right? I love the name Joel Potash.

[Aaron]

I love that your act of rebellion was getting a vaccine.

[Rachel]

It was like a moment my grandmother and I are, like, sneaking in. I remember thinking, like, oh, my God, what if my mom finds out? Do I get grounded? Can I still get grounded at 18? So as I got older, I'm a very lucky person. I have grown up with 10amazing women, and we have been together since we were in kindergarten. So we all know each other very, very well, like, inside and out. And luckily, we all started college together. So we went from elementary to junior high to high school to college, and we all lived together in the same big house. And I started to notice as we got older, you know, we start going more. We start partying a little bit. And I had had, obviously, like, you know, prom night. We snuck some drinks and we would do some things. And I always felt massively hungover, where I noticed my friends did not feel quite as bad. So I wasn't sure, like, gosh, did I drink more than them or, you know, it was very apparent that alcohol had a much bigger impact on my health the next day than anyone else's. And then when we got to college parties, became a bigger thing, and I could be hungover for a week, where my friends are, like, going to the gym and they're running around the block, and I'm like, I can't hang. So, like, I'm a lightweight. I don't know. And I did occasionally smoke cigarettes, and only a few of us did that. So I thought maybe. Because I would only smoke when I drank. So I thought maybe the combination of both of them is just clearly making me feel worse. And I know that both of those are not great for your body. I've been a homeopath. I was raised a strict vegetarian. We didn't eat fast food. So I was aware of what I was putting into my body wasn't great. So I didn't expect to feel amazing. But there was a clear divide of how I felt and then how everyone else felt the next day. So that's the first time where I knew something was wrong because I was like, why don't you guys feel the same way I do? And then I was just kind of like, okay, well, that's just how it is with me. So that was like, big thing where it was just bizarre. Like, I just couldn't figure out why I couldn't drink. I just couldn't hang with anybody. I mean, I still tried. Don't worry, I gave it a good college try, pun intended. But I knew that my body maybe wasn't as healthy as I thought. And I also didn't have the memory that my friends have. So they would say, hey, do you remember this? And I'm like, yeah. And I would give a fact about a statement, and they're like, no, that's not how that happened. And I was like, well, that's weird. But my mom was kind of. I just called it ditzy. So I was like, okay, well, maybe I just don't have a good memory. And my dad would be like, yeah, you and your mom have a bad memory and a bad sense of direction. So I sort of didn't necessarily think there was anything wrong. I just thought I was one of those really bad drivers. And a person with a bad memory that can't hang at parties.

[Aaron]

Did the memory thing affect when you were going to school? Did you have issues with memory in that sense, or how would you describe it?

[Rachel]

So, no, not so much at the moment. But looking back in high school, oh, my God. This is a really good way to introduce myself. So the other, like, we were talking.

[Leah]

We were talking about, like, I'm waiting with bated Breath.

[Rachel]

Oh, my gosh. Like, I'll be talking to someone. And I'm like, yeah, it's 6 inches and 4 centimeters. Someone's like, that's not right. And I'm like, what do you mean? And I was like, no, that's how inches work. And then I try to remember learning a ruler in math. And I was like, am I learning? And I was like, I don't actually remember learning this. Actually, I don't really remember math class. So when I look back at high school and stuff, I can't quite remember specific details or my imagination is kind of filled in blanks where I'm missing memories, which is bizarre. So I'm from Syracuse, New York. I don't know if anyone has been there. It is an amazing city. I love it very much. Shout out to all my Syracuse people. But it is the snowiest, coldest, coldest, darkest place. I think it's like the second cloudiest city next to Seattle. And I love it very much. I love the people. But then I went and visited Charleston, South Carolina. And so then after college, I moved very different. Yeah, I moved two weeks later. But when I moved, I started noticing when I was driving that I would get clear little bumps on my hands. And I wouldn't normally think too much of it because my whole life I've kind of written things off. But if I got a tiny bump on one finger, I would get it on the other finger and they would be so symmetrical and they would be blisters. And I was like, well, that's interesting. You know, and now I go to doctors because I'm a grown up, so I could do those things. So I went to a doctor and he said, you're allergic to the sun. Wear sunscreen on your hands. And I was like, well, that's interesting. You can be allergic to the sun.

[Leah]

Wait, can you be allergic to the sun?

[Rachel]

I don't know.

[Aaron]

I mean, you can have sun sensitivity, right? And there are multiple different medical reasons for that. But I'm not sure I've ever heard anyone say, you're, like, allergic to the sun. So you've developed these little bumps on your hand, these blisters, and a doctor has told you you're allergic to the sun.

[Rachel]

Wear sunscreen on my hands.

[Aaron]

Just wear sunscreen and, like, cover up.

[Rachel]

And none of it makes sense. Right? Because am I allergic to sun? Only on my hands.

[Leah]

Oh, I didn't even think about that. You should have broken out on your face.

[Rachel]

Yeah. So. But I did it. I put sunscreen on my hands. He's a doctor. I'm a rul follower. Like, I. I will do what I'm told. And that's what he told me to do. So I'm like, okay, I'll do it.

[Leah]

So we got that from when you went to the doctors and felt guilt. Yes, we got that you were rufo follower. From that.

[Rachel]

I was like, I will do every well. And plus, like, doctors are such a rarity to me that I'm like, I will do anything you tell me. I've been waiting to be around you guys for so long, so whatever you say. I think my opinion of doctors might be a little different than anyone else's, because I'm like, I've never met you. Like, I'm so happy to see you. But it did seem weird. Not gonna lie. And also, it didn't help. So I still had blisters, and they hurt a little bit. But I remembered my mom growing up would have tiny blisters on her hands. And I was like, that's weird. And then I was like, gosh, I wish I could remember, because again, my memory gets a little foggy of why she's. And I was like, oh, she was an occupational therapist, and she said that she was allergic to latex. But I worked at the Gap, so I didn't wear latex gloves, but I still wore the sunscreen. I still did everything, but I did have in the back of my head that, like, I'm doing a little Rolodex. Like, that's weird, you know? So I was like, okay, whatever. That's fine. So then I ended up moving back to Syracuse just for a brief stint, and my blisters started going away, and I was like, okay, that's awesome, because my hands were getting scarred up. I live in Syracuse for a little while. Everything is fine. Then I moved to Charleston. Bam. Blisters back on my hands, on my face. And I'm like, oh, my God. I am allergic to the sun. Because Syracuse is cloudy.

[Leah]

Mm.

[Rachel]

So I was never in the sun. That has to be true. That doctor is a genius, and I'm glad I listened to him. So sunscreen. Sunscreen. But I still would get blisters, even with the sunscreen. And so that was kind of annoying because my skin started to get pretty bad because the blisters would hurt, and then they would pop on their own. When I say pop on their own, I mean, I would pick at them, and it would hurt, you know, so.

[Leah]

And it was on your face now.

[Rachel]

At this point, or just so face and hands okay. And it was a debilitating. I wasn't, like, embarrassed, I guess, but I couldn't do anything about it. So it was just kind of like, let's move on. This is just how my face and my hands are, you know? It is what it is.

[Aaron]

So you had the one opinion of that one doctor that told you one time you are allergic to the sun.

[Rachel]

And that is it.

[Leah]

I stuck with forever and ever.

[Rachel]

Yeah, well, I just figured a doctor, once they tell you something, that is it. So I'm in Charleston, South Carolina, and I just moved here. So I moved here when I was, like, 30, and I'm meeting new people. If you guys been to Charleston, I'm, like, going out more. This is, like a fun city. And every time I go out, I feel like I'm going to die the next day for days and days and days. My hangovers are unbearable. So I'm like, ugh, I suck at drinking. That's just what it is. I suck at it.

[Leah]

Did you ever think it was like, oh, I'm just older now?

[Rachel]

No, it was the same how I felt when I was 18 to 22. So I would smoke when I would drink. And then I was like, I just. I can't recover. Like, I just can't. No matter how much water I drink, I can't. And I almost felt like my friends were faking because they wanted to be cool, like, I can hang. And I was like, I don't know. You guys are crazy. I can't. I just can't do that. So I started to get a little bit older, and my periods have always been a little bit heavier. So I needed to find a doctor here, like a gynecologist or something like that, to work through that because it tended to get a little heavier, which was crazy because it was already heavy then. So I just want to get my iron check, keep my levels up. And I found the best hematologist in the entire world, and he put me on iron pills. He did all these things, and nothing would really change my iron. It was always just low. So he suggested I start doing iron infusions. So I live by myself in Charleston. It's a whole bunch of different islands. So I lived on an island, but it only had one bridge to the hospital. And I went to the hospital. I got my first iron infusion. And I was with this guy at the time, and he drove me to get the. You know how they do, like, a preliminary iron infusion with Benadryl? Make sure you feel fine. We'd already Been through that. I was fine. So we did it a second time. I was fine. We're driving over a bridge, and all of a sudden, it felt like my feet were on fire. I mean, it was so terrible. And I'm trying to explain to sky when we're driving, I'm like, my feet really hurt. I got to roll down the window. Something bad's happening. And it's happening very, very, very, very quick. I can't feel my hands. I can't feel my feet. All of a sudden, I felt like I can't breathe. And I was like, you have to turn around. And we're on a bridge. So he had to turn around on a bridge going the other way. And I was like, I'm not going to make it. So he's calling 911. We're about a mile from the hospital. Like, we're going to make it to the hospital faster than an ambulance can't even get to me. So we turned around, rushed me in, and I am sort of in a. I guess, like a shock. I can't move. I'm kind of stuck. Everything feels like I'm on fire. And I walked in, and they're like, oh, she's just gonna have to wait. And he was like, no, no, no, no, no. She can't talk. She is, like, dying. Blah, blah, blah. So I think they gave me a shot, and I came to, and I was like, what is happening? And they. They were like, you're allergic to iron. And I was like, I'm allergic to the sun and to iron. Well, that's weird, because I've been taking iron pills. I have iron in my body, and. And I was like, okay, so I'm allergic to iron. Well, how am I going to get my iron levels back if I can't take iron?

[Leah]

Now in my head, I'm going, shenanigans.

[Rachel]

Shenanigans, Right.

[Leah]

I see Aaron's brain going, what's happening in the brain?

[Aaron]

Aaron, you know when you have this episode, just describe. You know, I know you said you had burning and tingling in your hands and feet. Were you having a feeling of your throat closing? Did you break out in hives? Because what exactly convinced them that you were having an allergic reaction to something? Because usually when you're having an infusion, if you have a reaction, it happens immediately.

[Rachel]

Yeah, it was probably about 10 minutes after my infusion. So got the infusion, I left the hospital.

[Aaron]

So they. They are chalking this up to the IV iron infusion allergy.

[Rachel]

I'm allergic to it.

[Aaron]

You recover from this episode. Okay, and then what happened?

[Rachel]

So I'm like, no more infusions. So then I'm just living my life, being miserable with hangovers, blisters on my hands, my face. Now I can't take iron, so I'm anemic. And then the next weird thing was, I was at a pizza place. I was having a beer and pizza with some friends, and I got a very itchy rash on my arm, and it was terrible. I found it. If I could have ripped my skin off, I would have. It just. It was only on one arm. Severely itchy. I went a little crazy over how itchy. Like, I had to leave the restaurant. I had to go home. I mean, it was painful, itchy, kind of blistery, but maybe a little different than the blisters on my hands and face. More of like, a rash. So I go to the doctor again, and I was like, look, this is driving me nuts. And they were like, you have celiac disease. And I was like, oh, does that mess with your iron? And can you be in the sun? And they were like, no, but you can't have red.

[Aaron]

Well, I was going to tell you that when you were talking about your alcohol and hangover story. I had a sorority sister who, one day, out of the blue, we were all living in New York City. We graduated this point. She asked the circle of girlfriends, is everybody throwing up after you have a beer? And we were like, no. And she's like, oh, I just thought that everybody threw up after they had beer because she grew up on a vineyard, and she had never had beer until she went to college. And so she's like, yeah, I thought, you know, like, well, everyone's throwing up a college. So she just thought that that was a normal thing to do. And we were like, no, that is not a normal reaction. And she was diagnosed with celiac disease. So I kind of had that in the back of my mind when you said you had these alcohol tolerance issues, but. All right, so someone is connecting those dots for you.

[Rachel]

Yes.

[Leah]

I am not going to believe it's celiacs, because I don't feel like that's interesting enough for you to be on the show. That's just my guess right there.

[Rachel]

Oh, my gosh.

[Leah]

I call no. And then also, I just want to say that now you've lost sun, iron, and bread. You are a strong woman to keep going.

[Rachel]

Thank you. Thank you.

[Leah]

If they take cheese from you next, it was very. It's over.

[Rachel]

It was. Well. And some of it was because once I Started looking into what is in everything. Gluten is in everything. So, like, I'm not kidding. I could eat like. This is. I'm highlighting myself so well. I could eat like a bag of cheddar cheese. But they were like, you can't have cheese in a bag because the powder that they put in the bag has gluten in it.

[Leah]

Oh, God.

[Rachel]

Like, when you open up a stick of gum, that white powder that makes it not stick, that has gluten in it. And I was like, ugh. Everything is gluten. It was so mad. So I didn't. I was being enriched for few years, so no more bread. All my carbs were taken away from me. It was very. How did they die?

[Aaron]

How did they diagnose you with the celiac disease?

[Rachel]

So this is the.

[Aaron]

Did they do a biopsy?

[Rachel]

No, Just told me.

[Aaron]

They just told you.

[Rachel]

Which now I know is not how you test for celiac disease shenanigans. But I am that soldier where I'm like, I believe you. Like, they could have told me. Any. A doctor could tell me anything. And I was like, okay, I believe you.

[Aaron]

Yeah. I mean, most of the times it's diagnosed through a biopsy of the intestinal tissue. There are people who have very classic symptoms, and I don't know if that's necessarily enough evidence to say you have celiac disease. I am not a gastroenterologist, so I don't know what is the official criteria, but I feel like just taking it off of your symptoms alone doesn't seem strong enough to give you that diet.

[Rachel]

Yeah. To take away bread for me, that's rude. They should at least take blood if you're going to tell me I can't have bread. And I did. Honestly, I felt better immediately. I was like, wow, I have more energy. My rash was gone. I was like, okay, okay, that's fine. I have celiac disease. Done. So it was really great to finally have a diagnosis or some type of reasoning of why I haven't felt so great. And as soon as I had given up gluten, I felt so much better. I had a lot more energy, and I was like, this is it. This is great. The rash went away. Clearly this is going to help me still get blisters, stuff like that every now and then. But, yeah, celiac disease is it. I definitely feel good. So that was in, like, 2009. And then in 2017, I worked at Saks and I am the store manager. So, like, I'm. It's a 25, 000 square foot. I'm stressed out all the time. It's just a crazy atmosphere. So stress is just a common factor, and stress takes a toll on your body. When you work in retail, you can be sick, and you just. It doesn't matter. You just kind of go through it. Eventually it'll go away. You have to keep going. You have bosses and numbers and whatever. And I was at work, and I was like, I. I don't feel right. And then my friend Rachel, who is the one that loves the show, all of this, she kind of was like a savior in this.

[Leah]

Shout out to Rachel. Thank you for listening. Tell your friends.

[Rachel]

She's like, you know, did you eat gluten? Because at this point, I still have celiac disease. And I was like, no, I don't think so. And I was like, but my stomach, it hurts, but was weird. This. I. I couldn't tell you where it hurt. Like, if someone was like, show me on this doll where you hurt. There's no way I could even. I just. My stomach just kind of hurt. It just hurt. But it was enough, or I was like, rachel, I'm gonna leave. I'm gonna go to my doctor. Because it's. My part of it was. Because it's my 40th birthday coming up, and I had friends coming into town, and I was like, I cannot get sick, and who knows what I have? I'm probably allergic to something else, and I need to get ahead of it before it's my birthday. So I go to my doctor, who I've been going to for, like, 10 years, and I was like, hey, like, I think I might be sick. I don't know, but there's something maybe wrong with my stomach, but I don't. I don't know. She was like, well, is it upset? And I was like, no. And she was like, what does it feel like? And I was like, I don't know. And she's like, was it stabbing? And I was like, I don't think so. And she's like, okay. So she's, like, pushing on my stomach. And she's like, does it hurt? And I was like, not really, but I think there's something really wrong with my stomach. And she was like, well, I'll put a test in for pancreatitis, but your body temperature is 98.6. You seem perfectly healthy. And I was like, so what you're saying. Because obviously, doctors tell me the truth. So what you're saying is I can go celebrate my birthday because I'm fine. And she was like, that's exactly what I'm saying to you, Leah. Go have fun. So I go home, and it was just kind of nagging at me. And not necessarily the pain was getting worse, but my body was like, there's something wrong. There's something wrong. There's something wrong, like, over and over and over again. And I was like, well, I can't go back to my general practitioner because I was just there 10 minutes ago. She's gonna be like, get out of here. So, yeah, I go. So I go to urgent care because they have, like, waiting rooms. So I was like, I'm just going to sit in a waiting room near medical equipment. And then if anything gets worse, I'll already be there. Because I figured you can't, like, not selling anything. Like, I could just sit there. And so I do.

[Leah]

I'm sorry, but that's hilarious. Thought you're like, I won't get a second opinion. I'll just sit there in case maybe I do need one.

[Rachel]

Yes.

[Leah]

But if I don't, I'm just going to hang out here and watch whatever soap opera is on the table. Totally did.

[Rachel]

Like, I got dressed up and I watched tv. And I was like, maybe I'll meet a cute doctor. You never know.

[Leah]

I mean, yeah, that could happen. That would be the best end of this episode ever.

[Rachel]

So they don't like it when you just, like, hang out. I think it kind of makes people uneasy. And I'm very unassuming.

[Aaron]

I'm like, I think it's called loitering. I think it's called loitering.

[Leah]

Aaron's like, I would have kicked you out.

[Rachel]

And I'm like, five feet tall, and I have, like, a little purse, my little sax outfit. And I was like. And finally the receptionist is done asking me, do I need anything? And finally a doctor comes. And he was like, are you okay? And I was like, it's embarrassing. And he was like, what is it? And I was like, well, I've already been to the doctor, and I'm fine. I just sort of feel like I'm not fine, though. And I just wanted to be around equipment in case I got worse. And he's like, oh, my God. Come here. So he takes all my vitals, takes my temperature. He's like, no, you're 98.6. You're perfectly healthy. But I've been sitting in the chair for 30 minutes, maybe like an hour. And he was like, but you are sweating. And I was like, yeah, because I think I need a lot of pain. Like, I Don't know. I have a hard time telling like when they say 1 to 10, I think it's very subjective because like, I mean, I like tattoo, like I don't know, like, I don't know. It's like a four.

[Leah]

I learned about something to just this week actually that might help you with this is that people can perceive pain greater based on their fear of that pain. So like, tell me if I'm wrong, Erin. But in recovery and oftentimes in surgical proceedings where there is pain, people who have a higher fear of that will feel the pain more.

[Aaron]

So a little bit similar. We've done some research on in my field, if you educate a post op person about this is what you may feel, this is normal. These are the types of therapies or medicines that can help with that. They end up taking like no medication because they understand like, okay, yeah, there is some pain. Whereas if you have no expectations and you experience that same level of pain, they're going to be ones subjectively in more pain.

[Leah]

So I have a feeling you going it's not a big deal to yourself over and over was maybe suppressing how you were feeling. I'm gonna guess that he's gonna tell you something's really wrong and that you should have been in extreme pain. So this is all me being like trying to figure it out. I have no problem.

[Rachel]

Yeah. And I don't know, right? Like if someone else was me, they would have been like, I made a 20. And I was like, I don't know, I'm a five. Because I don't know. I guess I think those are really good points. I think it is subjective and I just don't know. But I, I mean, it was enough where I was sitting in a hospital stalking them. I feel like maybe.

[Aaron]

And there is, there is a medical term of impending doom.

[Rachel]

I did feel impending doom.

[Aaron]

That is a feeling. And they have a feeling of impending doom, but they can't describe what it is or if it's pain, if it's whatnot. They just have this intuition that something is, is not right.

[Rachel]

Yes.

[Leah]

You're clairvoyant.

[Rachel]

That is exactly how I felt. I felt impending doom. That is probably the best in all of this time. That is the best way to explain how I felt. And it was manifesting in my stomach. I don't know if it was like, I was so anxious, my stomach hurt. But I knew that something was very, very, very wrong. So the urgent care was like, go to the emergency room. And I was like, I don't know. What do I tell them? There's nothing wrong? And he was like, yeah, just go, because something isn't right. Because I'm sweating. Like, you can look at me and tell. Like, no one wants to go hang out in a hospital. You're not sweaty for no reason. So I was like, okay, you're sitting there.

[Leah]

You're not, like, running a lap around.

[Rachel]

The house, just, like, chilling, trying to look cute for doctors, you know, just, like, normal. So I still try to pick up.

[Leah]

A husband, feeling impending doom, but still trying to get a man.

[Rachel]

Determination, multitasking determination. So I get to the er, and that's a very intimidating place. So I park my car and I go in. And I was like, hi, I'm Leah, and I. My stomach hurts. An urgent care sent me because I thought that would give me some validity. And so they don't also have a sense of humor. So they were like, so it's wrong. And I was like, I don't know. My stomach hurts. And I've already been to my doctor, and they told me I was fine. And then I went to urgent care, and they also told me I was fine. And I'm here because I. I don't feel like I'm fine. And they were like, yeah, you're okay. Go home. And I was like, that makes sense. That makes sense.

[Leah]

You should have dropped the impending doodle.

[Rachel]

Because there's nothing wrong. I can't tell them that. They're. I. I was like, there's nothing. I don't know. My stomach hurts, like, but it's kind of getting worse. But, like, I don't know if it's. Dress. Okay. So I leave, and my friend calls, and she's like, I'm almost at your house. And I was like, oh, my God, I'm so sorry, because my birthday's coming up. So I'm like, hold on, I'm just leaving the emergency room. She's like, you're in the emergency room? And I was like, there's nothing wrong with me. And she was, why are you at the emergency room? And I was like, I don't know, because I feel like there's something wrong with me, but there's not. And she's like, what? I was like, I don't know. As I'm talking to her, I realized I have no idea where my car is. And not like one of those. I think it's on level three or four. Nothing looks familiar to me. And I was like, I think I walked. How long was I talking to you for? Because, like, maybe I crossed the street and didn't know. I was like, I gotta go. I hung up the phone, and I walked back into the emergency room. And I was like, is this the only garage? And they're like, yeah. And I was like, huh? I can't find my car. And my stomach is really starting to hurt. Is there someone that can help me find my car? And they're like, no. And I was like, sure. Okay. That sounds right, too. Yeah. So I laughed. And I was like, oh, God, I don't. So I was walking around the garage, and I was like, why can't I find my car? And it probably took me 30, 40 minutes to find my car that was parked right in front of the door. And then I was driving. And when I was driving, it kind of felt like my head was like, you shouldn't be driving a car, Leah. Like, you shouldn't be driving a car. And I was like, I only live across the bridge, and three doctors in three different places have told me there's nothing wrong with me. So I was like, I'll just get home. So I get home, my best friend meets me, and she immediately looks at me. And we have been friends since fourth grade. She looks at me, and she was like, you don't look good. I was like, right, because there's something wrong with me. But I have already been to three doctors, so there's nothing wrong with me.

[Leah]

And she was also, I love your friend, but also not a great way to greet somebody.

[Rachel]

Thank you. Yeah. No, she still would greet me that way.

[Aaron]

That's a real one, though.

[Rachel]

That's a real one, right? So I start throwing up. Finally, something starts happening, and I'm happy because I'm like, something is wrong with me. Something is wrong with me. Let's. Where are we gonna go? What do we do? She was like, let's go back to the urgent care. And I was like, yeah, but I am not in my right mind. I know that there is something psychologically not right with me. I'm starting kind of disassociating things and pain, and it just felt very weird. And we get back to the emergency room, and I'm throwing up. And I'm running in their bathroom and throwing up. And they're like, we've already seen her. She's not coming in. She's fine. And she's like, she's throwing up, like, right in your. You can see her. She's vomiting. And they were like, no. And I was like, okay, can you just try again? Because now I really am Sick. Not that I wasn't sick before, but I really am throwing up now. So I think they humored me. And they're like, no, 98.6, you're perfectly fine. But I am so sick. And I was like, listen, I am going to lay in front of your fish tank on the floor until somebody lets me in the hospital. So this is where we're at. I'm just freaking love you in front of the fish tank. And I'm gonna make everyone very uncomfortable or just let me in the hospital. And I think they called chicken. And I was like, not with me. So I went right to fish tank. I was laying on the floor, just, like, rolling around. I'm in so much pain. My friend is rolling her eyes and she feels terrible. She's like. She never throws out. Like, she just. There's something really wrong with her. Like, let her in there. Like, no. So I didn't know that people fake being sick to get pain pills, but I am the clear definition of someone who's trying to score medication. Nothing wrong with me. I'm clearly mentally deranged. I'm laying in a fish tank. I'm like, threatening them to come back in. And looking back, I was like, oh, my God, this is so embarrassing. I didn't even know that was a thing. But I was like, of course they thought I was seeking pain medication. There's nothing wrong with me. And I'm rolling around on the ground threatening them to come back in.

[Aaron]

There's actually a term for it, and it's called malingering. You were a malingerer.

[Leah]

I don't think I've ever laughed so hard on this podcast. But as soon as you said, I look like someone tried to score some drugs, I was like, yeah, actually, when you put that lens on you, 100%.

[Rachel]

And I think.

[Leah]

I think, what's wrong? Something kind of hurts.

[Rachel]

I can't tell you where.

[Leah]

It's somewhere here. But I think what I need is a couple Percocets.

[Rachel]

I see. Urgent care probably thought the same thing. And they were like, we gotta get this drug addict out of here. Under the emergency room.

[Leah]

You little. Malingler.

[Rachel]

Malingler. It was so sad. And I was like, okay, I get their point. Also, I am dying, so I don't care. So I was like, I don't. I don't know what to do. So finally a doctor came and got me off the floor out of the fish tank, and they put me in a chair, and they rolled me in, and I was like, I'm not going anywhere. There's so many. I'm really sick. For real. There's something really wrong. So my friend Laura goes into, like, patient advocate. Like, she is getting in this hospital whether you like it or not. Let her in. So finally, they take blood, take urine. I'm in a bed. I'm so happy. And they're like, what is your pain level? And by this point, it's like a 30 on a scale from 1 to 10, which does not help my drug seeking cause, by the way. So I was like, it's a hundred. Like, the faces of anger. I'm like, past the angry face. Like, look at this face.

[Leah]

And I'm a face of anger.

[Rachel]

Yeah, this one. This one isn't on there. And I was throwing up in a bag. So I was like, I'm clearly sick. But also, I think drug addicts also probably throw up if they're like when they withdraw. So I was like, But I. Not that, like, people. Look, anyone can be a drug addict. I get it. But, like, I just. Clearly not more a drug addict. Like, I'm like, this is just crazy. Like, so they're like, you're fine. We did all these tests. Everything is fine. Your vitamins are fine. All your levels are fine. I was like, sure, okay. But I look, I'm throwing up. And then my friend was like, is that her urine right there? And the doctor was like, yeah. And she was like, huh? Is it supposed to be that color? And we both look over, and my urine is purple.

[Aaron]

What?

[Rachel]

And I was like, that's not my urine. And he was like, yeah, that is. And I was like, well, that's not. That's not right. Right? I drink so much water, there's no way. Do I have blood in my urine. Did I? Beats what happened. And I was like, I don't.

[Leah]

Wait. Can beets make your urine perfect?

[Rachel]

I don't know. I was just freaking out. I was just freaking out. And they were like, let's test her for hepatitis. And I was like, oh, my God, do I have hepatitis? Does hepatitis make your perp? And I was like, oh, my God, I don't even know what hepatitis is, but I don't. I know I don't want it. And I was like, okay, okay. If I have hepatitis, fine. I already can't eat bread, and I can't be in the sun. I don't have any iron. So fine. Just olive hepatitis, too. So we got tested for hepatitis, and it came back negative. And he didn't really explain much about it was just kind of like, nope, no hepatitis, which made me feel really great, but also not because still kind of lost and confused on, okay, well, now what is it? So then it led into more tests, more blood tests, and I kept coming in and saying, nope, all your tests are still fine. Everything is in the normal range. So no hepatitis. All my vitamins, minerals, everything perfectly in the normal range. Which, again, should be. Make me feel good. But it didn't. It made it just a little more scary. So I sat there, and they were like, we don't know what it is, and you're perfectly healthy. We're gonna send you home. And I was like, my urine is purple. I'm not going home. You have to admit me. And they were like, no, we're staying home. I was like, I'm telling you right now, you called chicken with the fish tank thing. I will keep admitting myself into this hospital until you check me in. I am very sick. So finally, I convince somebody to check me in, and I immediately go downhill very, very quickly. I am throwing up all the time. The pain is now at, like, a 20. It's so bad, I'm screaming out loud. The night nurses told me to be quiet because I couldn't.

[Leah]

Where is the pain coming from at this point?

[Rachel]

Everywhere. Everything just kind of hurt. It was kind of impending doom. But my body did physically hurt, and it hurt everywhere. I was kind of delirious. I knew I wasn't right in the head. It was bonkers. But it was extremely painful. But again, I couldn't. Mostly my stomach, but I couldn't pinpoint exactly where. And I thought maybe it was my back. I didn't know they're doing X rays. Everything. They had to tell me to stop screaming. It was terrible. So the next.

[Leah]

I hate to laugh, but it. But you sound annoying as a patient, but also, like, I feel for you because you look at one side, you see the nurses, you see someone sweating who has a normal temperature, who claims to be in pain again, does kind of look like maybe could be with a draw withdrawal. Because these are, from what I've seen on tv, all things that people who are addicted to something experience coming off of the medication. But at the same time, that's not it.

[Rachel]

Right.

[Leah]

So there's.

[Aaron]

I guarantee you they ran a tox screen.

[Rachel]

Oh, they did? Yeah.

[Leah]

Okay. I didn't know.

[Rachel]

I'm not interested. Number one, all of my tests are coming back perfectly fine. Like, my blood is. I'm 98 points.

[Leah]

You're still 100. Okay.

[Rachel]

The healthiest person that's sick and mind you, I worked that morning. I went to work. I left because I didn't feel great. Went to my doctor, went to urgent care. I've been to the emergency room three times. So this has been the weirdest day. And that's a very fast transition from not feeling somewhat okay to, like, dying in a hospital. So they. And it's your birthday, right? So my birthday's in like three days and it's my 40th, so I'm like, oh, my. I'm never going to be able to celebrate my birthday. So the next day I'm still there. So Rachel, again, love her. She comes to visit me at the hospital because she's like, what is going on? And I was like, it's not gluten. I don't think I have celiac disease. And the doctor comes in when Rachel is there and was like, we think. We think that she is constipated. So, I mean, you guys have now known me for like 35 minutes. Clearly, I'm not a shy person. And at work we talk about everything. And Rachel straight up was like, she is not constipated. She took a poop at 12 o'clock yesterday. We were at work. I know. And I was like, yes.

[Leah]

You are killing me. You are killing me.

[Rachel]

Yeah, we share everything with each other. So I was like, this is amazing. It's not constipation. And then he's like, well, we think you're hypochondriac. And I was like, oh, I could be a hypochondriac. I don't know. Because people don't want to be hypochondriacs. And maybe I am one. And maybe it's my long stem of never going to the hospital. And my mom taking my doctor away and making up fake doctors has made me a hypochondriac because there's still nothing wrong with me, even though I am throwing up in extreme pain and want to die. Maybe I just manifested this and I am a hypochondriac. But again, my purple urine leads me to believe that I am not a hypochondriac. So my friend Laura, who was there, and Rachel are like, she's not a hypochondriac. She's very sick. So I start getting worse. I start throwing up more. My whole body starts hurting a little bit more. I'm now in there a couple days, my dad comes down from Myrtle Beach. It's starting to get more serious. Doctors really can't. They did MRI, CT, anything, and clearly, I'm not faking something. Screaming in pain. And I'm getting a little more confused. I'm starting to get very, very worked up. And I feel like I'm gonna die. I was like, I don't see any end to this. And it's getting worse. This is really, really bad. So now it kind of becomes an episode of House. I start getting. All these random doctors start coming in and they're all writing on a board. And I was like, oh, my gosh, just someone figure out what's wrong with me. So I'm like curled over. And again, it's so crazy when you don't. I still at this point, couldn't point on a doll. What hurt? Like, I just. Everything hurt so bad. I was throwing up violently. And I mentally definitely wasn't there. I remember being like, I'm going mentally insane. And I was in the hospital the 17th, the 18th, the 19th, the 20th. And it was continuously getting worse all four days. The point of confusion was almost non existent because the pain. This sounds weird, but I was screaming like I was just laying there like, ah. Because it hurt so bad. I just never stopped yelling. I couldn't. It was uncontrollable. They were like, you have to be quiet. People are trying to sleep. And I was like, I. I can't. I don't know. And they're like, you know, and it was still like, well, what hurts? So we can help. And I'm like, I don't. I don't have any idea. I just wasn't me. I was just gone, you know, just wouldn't use my phone. Couldn't really have a conversation. I'm not interested in tv. I was just consumed by my body, just killing me. So the confusion part, I think, was so overcome by pain that it was scary more for my dad, who could see it because he could ask questions. But I'm not answering anything. I'm just, you know, gone. And I start having that sort of seizure, like, thing that I had when I was on the bridge after iron. And I was like, oh, no, I'm gonna go into that shock again. And I couldn't really explain what was going on. Cause I was so out of it. My dad's hysterical, he's crying. The doctors are freaking out. And my hematologist was there who's like the smartest, most best hematologist in the whole world. And he's looking at me. He feels so bad, like he failed me. And I was like, no, no, no, you guys didn't fail me. Just Figure out what's wrong. I'm gonna die. I'm definitely gonna die. And I can't move. And then it starts to get like, I am gonna die in quickly, like within an hour. Maybe I'm not going to survive. So I'm like, okay, so just someone get me out of this. Like, I can't move. I talked a little bit about after I had an iron infusion and I felt like my feet were kind of hot and then my hands felt hot and my throat started to feel like we were swelling up. My fingers would just get locked. I couldn't like move any of them. And I kind of felt like I was getting paralyzed. And then my tongue started swelling up and I couldn't really speak. And then I was convulsing a little bit. It felt identical to that. I'm kind of like stuck in this position like this. And I look over the door and some man is like, is a doctor because he has like a white coat on. And he walks in, he's kind of like, hey, what's going on? It's weird because I don't really remember. Like this whole thing is kind of foggy. And he walks in, he's like, could you. Hey, what's going on? And they were like, we have a 40 year old female, today is actually her birthday and she's dying and we don't know what's wrong with her. And he was like, let me take a look. And he was an osteo doctor. Bone doctor.

[Aaron]

If he's talking about bones, then he's an orthopedist. An orthopedic.

[Rachel]

Orthopedic surgeon. My bone. And mind you, my bones don't hurt. There's nothing wrong with my bones. So he comes in and he's like, how old is she? And they were like 40. And then he was like, I think I know what it is. When I was in medical school, my professor wrote a thesis and he wanted the class to read it and had nothing to do with bones. And none of us wanted to read it. It was really boring. And the whole class is kind of like, what does this have to do with what we're doing? And he said if a woman ever comes in, she's middle aged and she's in a lot of pain and there's nothing wrong with her. Test her for porphyria. And they were like, what? And so they figured out what that was, got a porphyria test, gave it to me and said she has porphyria. Give her heme. The only drug that you can get is heme, and it goes through an IV and it's almost like it looks like a black tar. And the hospital didn't have it, so they went and found it. So I didn't know. Like, I knew I had porphyria, but I didn't quite understand what it mean. A lot of doctors were confused. I remember a lot of people googling, trying to figure out what it was. The doctors that did know, I hate to use the word excited, but they were excited like they, one, because I wasn't going to die now. But two, also, they have a porphyria patient. They get to learn. They get to ask me questions. They really get to expand their knowledge on this disease. So it was kind of a mix of chaos and joy and scared all at the same time. My dad was crying, but that, I believe, from relief. I just remember thinking, I'm not too sure how I feel, because anything I've been told, like, not really allergic to the sun, really allergic to iron. I don't have celiac disease. So at this point, I'm like, I don't know. I wanted to be happy, but I wasn't going to be happy until I knew for sure that it was. So they did find the heme in a nearby hospital, and they'd give me a port. And then as soon as they started to inject the heme, it made me very, very ill. I was violently throwing up, but I could tell my body was feeling different. And I didn't know if it was better different, but I would have taken anything than how I was feeling right then. So they did it in little sections. So I had heme, and then I had a glucose iv, and then you have heme. And my brain started to get some clarity. Like, I didn't quite know what day it was, but I knew to ask what day it was, which was sad because they were like, it's your birthday. I was like, oh, great. And I started to come to you. So then I was like, okay. I'm very thankful. It did get very crowded very quickly, because news travels fast. Charleston. We have a group of hospitals all together, and they're fairly big. So once word got out there was a porphyria patient, it got kind of hectic. My hematologist said, you're about to be the most famous person for doctors in Charleston for the next week. So I was like, oh, okay. I don't know what that means, but, like, I'm alive. And I felt good. Like, really good. Immediately, you know, my body was sore. I was going Through a lot, but I felt like myself. And then I realized, whoa, I was very confused. I definitely was very out of it. I guess it was just one of those things. I was so out of it, I didn't even know how out of it I was till I was back, you know, and then just seeing my dad so happy and seeing my doctor so happy, I was like, okay, I trust this situation. This feels right. I feel okay. Okay, I have porphyria. Now, what in the world is this? So, you know, once being told I have porphyria, clearly I have no idea what this is. My dad has no idea what this is. Doctors are very scientific, and this is a very scientific illness. With blood, it's a lot of, like, your sequences and things don't match up. And, you know, one parent has to have one thing and another. And I was like, oh, my gosh, I don't what's going on. So essentially what happens is there is a mess up in my genetic sequence, and when something triggers it, the heme from hemoglobin carries oxygen. And so what will happen is my oxygen is not being carried and delivered the right way throughout my body. So when there's less oxygen, which is this is where the confusing part is, is if I'm having a minor attack, you know, sometimes it's my brain's not getting enough oxygen. So all of a sudden I'm losing my keys, I'm losing my phone. Things will just get a little confusing to me. Sometimes my stomach will hurt and it's like, okay, not enough oxygen's getting to my liver, my pancreas. So essentially, just the easy way to think about it is all of your organs need oxygen, and when they don't have oxygen, they don't work properly. So it's kind of like a bag of fun of what organ isn't going to work when you have an attack. But the one when I was 40 are way more severe where it's your whole body. So, I mean, from what I know is I was like an hour away from dying and this guy saved my life and his doctor who made him read the thing on porphyria.

[Aaron]

I want to give a shout out to that orthopedic surgeon because we get a lot of flack for being meatheads.

[Rachel]

Yeah.

[Aaron]

But we are very smart.

[Rachel]

Yes. Usually I couldn't.

[Leah]

I will say this, too. It goes as another example of is that you only know things that you've had experience with. And it doesn't make a doctor bad that they don't know a condition it just means they haven't had experience with it. And that's why some of the things, like the new technology that's becoming available is allowing some of these things to surface more easily, so doctors can discover things that maybe they're not familiar with.

[Aaron]

Although once you hear this, it's going to make your blood boil. So porphyria literally means the Greek word for purple.

[Leah]

If I could drop my microphone right now, I would.

[Rachel]

If you Google purple urine, porphyria comes up the rage.

[Leah]

Guys, if the doctor had just been like, I wonder what purple urine means.

[Rachel]

Blisters on your hands. If you Google it, cunitanus porphyria will come up. So as we left the hospital, so I was there for a couple weeks, they let every doctor in Charleston come visit me. They could ask me any questions they wanted. Everyone wanted to learn the chances of meeting someone with porphyria. Like, if anytime I go to a doctor, you have porphyria. And then I, like King George had. I know, I know, I know. But if they want to ask me questions, I will answer everything. But I almost died. I left the hospital. My dad was like, thank God. And he was like, we'll go home. And I was like, can we please stop at Jersey Mike's? I want to get a sub. Because I knew I didn't have celiac disease.

[Leah]

You get that bread? You get that bread, girl.

[Rachel]

Not even a regular. I was like, I want the big boy. I want the whole thing. I'm ready. I literally, before going home in the hospital for two weeks, and I was like, can you just take me to Jersey Mike's real quick? That'd be great.

[Leah]

If this isn't an ad for Jersey, I don't know what is. Oh, my gosh, that's amazing.

[Rachel]

So I end up going to a specialist, Herbert Baumgowski, who's a world renowned porphyrius.

[Aaron]

He definitely sounds like a specialist in porphyry.

[Rachel]

I mean, he has.

[Leah]

He has that name alone. He clearly knows something.

[Rachel]

Listen, and he's like 90. And so I got very nervous when I met him because I was like, how many doctors are there? And I was like, you're not going to retire, right? But he is a world specialist. So looked me over, told me I have variegate and AIP porphyria, which causes blisters on your hands, blisters on your face, memory loss, like, kind of like deliriousness. You can't have alcohol, no pain medication, stuff like that. And it's hereditary. So I. No relatives on my mom's Side left, they had all passed away. And some of them, no one knew why. But my mom, being a homeopath, didn't drink, didn't smoke, wasn't stressed, didn't go to doctors. So she only had the blisters. And they're very small because we're from Syracuse, so it's not sunny. It only started did I see the blisters because I moved to the South. So I necessarily probably wouldn't have even put them together if I hadn't moved here. So apparently there's a bunch of things that can trigger porphyria. The main culprits are hormones. Alcohol is one of them. So my younger self was not a lightweight. She just had porphyria. Smoking, drinking are no no's. I generally have to stay away from cleansers. Bleach will trigger it, so I have to stay away from that. No birth control pills, stuff like that. And then celiac disease. Like, why did I feel better if I don't have celiac disease? One, I think in general, people can have gluten intolerance, and I think a break from gluten can make you feel better initially. But I felt better because no beer. So I wasn't drinking. Like, I wouldn't come home and have a beer from work anymore. It just wasn't that important, and I couldn't do it. So it really kind of kept down those attacks and all those minor things that I was feeling immediately because I didn't have any of the alcohol triggers that I was having before.

[Leah]

Are you allergic to sun? Was that. Is that actually.

[Rachel]

Yes.

[Leah]

Or is it like.

[Rachel]

Yep. So sun is an issue, I think maybe. I don't know how.

[Leah]

I'll help you out.

[Aaron]

So to give everybody a little background on what porphyria is, is, we'll work backwards and think of. Everyone knows we have red blood cells in our body, right? They carry the oxygen. But there is a very specific molecule that delivers that oxygen, which is called hemoglobin. Hemoglobin is made up of heme and globin. Heme is made in your liver and in your bone marrow. And in order to create that heme, which is. It's called rings, porphyrin rings. And in the middle has iron, the atom. Okay. In order to create kind of like a. Like a Lego tower, you have to go through all of these called enzyme reactions. And enzymes are kind of like a spark plug that makes a biochemical reaction happen. In porphyria, you are genetically missing one of the enzymes. The enzymes don't exist because Your genetic code has an error in it. So what it does is if you think of the I Love Lucy episode where they're eating the chocolates, well, now they're not keeping up. And so all the chocolates keep piling up, piling up. That's all of the precursors to heme keep piling up, piling up, piling up. And those are toxic to your body. So the pain and confusion are actually caused by toxicity, not lack of oxygen, although that is a common misconception. And so the triggers for this can be sunlight, the alcohol exposure, stress. These are all triggers that cause the heme overproduction. And then there's too much incorrect heme, which is literally toxic to the body. And that's part of what causes the madness. So King George, if you think of. If anyone watched Queen Charlotte Bridgerton, he was going mad, right? And they. And again, it's a theory. It has never been confirmed, but that is one of the theories, that he was mad because he had porphyria. He had this neurotoxicity buildup of heme protein. And also a very fun fact is that Dracula and vampires were based on people who had porphyria because they could not come out in the sunlight because of the reactions. And they had the dark urine. And so they thought they had dark urine because they were drinking blood.

[Rachel]

It is called disease.

[Leah]

You're a vampire princess. Yes.

[Aaron]

She's Buffy.

[Rachel]

So, yeah, so they found out, and it's amazing. And I have the best hematologist. I love him. He will Google everything, but he is very busy man. So he did just give me a new doctor. And I was like, does he know about porphyria? And he was like, no one does. But he promised to Google everything with you. So we. Me and doctors sit and we Google. There is a porphyria app where you can type in a medication and it will tell you if you can have it or not, because also, you can't have medication. So I had to have a hysterectomy to control my iron because those fluctuations were causing me to have an attack. I'm not allergic to iron, so that's crazy.

[Leah]

It was just. That was basically stimulating the bad.

[Rachel]

Like the dramatic up and down too much was just crashing me and then just kept putting me into attacks. So.

[Leah]

Well, because you're feeding it a lot of iron, right? You're like, and my body, I don't.

[Aaron]

Want any of it.

[Rachel]

Get it out. So they were kind of right. Like, my body did not want the iron. And my body doesn't want sun, and it doesn't want alcohol or cigarettes. So it was like, it just wanted Jersey Mike's. That's it.

[Leah]

Oh, and also, you know what it does want?

[Rachel]

Because they told me I had celiac disease. I also hadn't been eating carbs. And if you have an attack, you have to eat carbs and glucose. So glucose and carbs, from what I understood in the most layman terms that the porphyria specialist who's like, such an academic could explain to me is it helps bind your blood and your sequence back together. So when I go into a doctor, they give me a glucose iv. After I had my hysterectomy, they handed me croissants. When I see my hematologist, he'll give me, like, donuts, which it's not a bad gig. I mean, my scalp is a little mad at me, but I am like a cute old lady that has candies in my bag. Because if I feel like I'm going to have an attack, I get. So I am a fairy vampire that carries candy at all times.

[Leah]

I know. I was just saying, you are the jackpot woman.

[Rachel]

But so, yeah, the celiac disease really kind of hurt me because I gave up carbs, which was saving my life, and also save your life, believe me, which is very difficult. So I, like, I get it. Like, I heard it was rare, but I didn't really believe how rare it was until I have it in my chart. So I go to a doctor who can see I have it in my chart and still won't believe me. It was insane to me, but I was diagnosed with pneumonia, and my doctor was sending me home, and I was like, no, I'm having a porphyria attack. And he was kind of like, I don't think so. We're going to send you home. And I was like, no, no, no, no, no. You have to call an ambulance. I'm having. And he's like, I don't know. So I talked to my hematologist, and I was like, listen, Dr. Klinski, what am I going to do? How do I convince people that I have this disease? And he was like, after this visit, this was tricky because I had to call him to say, hey, can you vouch? Can you vouch for me? And I told him, you can never retire because you're my voucher. I just have to say, can you call my doctor? So he can. Even though it's in my chart and I have it in there from multiple people. So a few years ago, they sent me to A geneticist. He's amazing. And even he. When I met him, he was like, okay, so we're here to test you for porphyria. And I was like, yeah, I guess I need 17 people to tell me that I have it. So it's in my chart until someone believes me. But I'm getting nervous because someone's not gonna take it seriously and give me something I'm not allowed to have. And he was like, okay, you know, it's not very common, but, yeah, we'll go ahead and test you. And four days later. And he was a very serious, very serious man. Very nice. And he called me in, he said, got your results, you know, come in. And, like, I was like, maybe I don't have porphyria, because so many doctors are doubting this. And I was like, I don't know. And I got in, and he is smiling. And I was like, okay, so I don't have porphyria. And he was like, look, I know it's inappropriate for me to be smiling, but you have porphyria. And I was like, yeah, I know. And he was like, I can't believe it. I, like, literally can't believe it. And he geeks out, pulls up his charts of genetic sequences, and walking through, like, this is exactly how we know. This is exactly how we know it's variegate. This is how we know it's aip. Like, you have, like, you have porphyria. And I was like, yeah, I. I know. Can you put it in writing or make me a plaque or, like, do, like. I love tattoos. Do I need to, like, put it on my forehead? I can post Malone it. I like, what do I do? And then he asked me a lot of questions, like, how do I feel? How do I deal with this? I mean, doctors geek out because they can actually ask somebody questions. And then he was like, do you have any relatives that we could fly here and we will pay you and they can stay here for a week just so we could study them because it's hereditary? And I was like, no, they're all dead. He's like, oh, that's a shame. But I think he was like, it's a shame that I don't get to test any more people again. So nice. But it's just so rare that people geek out over it. And every time I go to a doctor, they're like, oh, did you know King George? And I was like, yes, I do know. And then I'm worried that they're gonna think I am, like, the mad hatter because it always is connected to King George going crazy or like Van Gogh who was locked up in a mental institution. And I was like, oh, gosh, this is not a cute look for me. But even with the geneticists, the world renowned porphyria doctor, and my hematologist, I still have to make sure they understand that I really have porphyria. And then once they find out, a lot of people come to visit, they really. Especially when I get a heme infusion. Oh, my gosh. Every nurse will come in because if it ever happens again, they're not going to know what to do. And it looks like black tar. So they're geeking out over what they're putting in my body. And at first I was like, this is a little uncomfortable because you're injecting it in my body right now. Maybe give me a minute to kind of, like, come to peace with this. But it makes me happy how happy they are because everyone likes to learn, you know, so it does feel good to kind of like, help people. But people don't believe it. So he. I think it's.

[Aaron]

I don't think it's because they don't believe it, but I don't think it's. I think it's because they don't understand what that entails. Right.

[Rachel]

Yeah. So if I hear a doctor say, you're perfectly fine, I immediately go to the emergency room, but it's only happened twice. I have small attacks, but I control it with candy and bread.

[Leah]

That is.

[Rachel]

So that's fine.

[Leah]

No offense, but I. I'm jealous that my medical treatment isn't candy and bread.

[Rachel]

That is the best part of it.

[Leah]

In terms of treatments. That's kind of great.

[Rachel]

Yeah. Can make candy bar sandwiches. It's a little thing I invented.

[Leah]

Wait, really? You eat a candy bar sandwich? It sounds both intriguing and gross, but.

[Rachel]

I'm sure it's good. That's the. I mean, after 40 minutes, that can't surprise you guys. So, yeah, so I'm still living with it. I have a doctor, Dr. Google, with me, and my hematologist will Google. So now I'm just living with it now that I know. And I'm really happy that Rachel reached out and she's like, you have to go on this show because everyone should know about it because it's hereditary. Right? So, like, if my whole family had it, there has to be way more people out there that have it. But it's so confusing. And I think if my mom hadn't made up, you know, the pothead doctor And I didn't. Was forced to listen to my body. I may not have trusted my instincts as much. So I think there's a lot to be said for. And now, especially since I've been misdiagnosed so many times that now I just demand things when I go in, like, I'm like, this is what I need to be tested for. This is it. And if you go in with a very sense of purpose and look that, like, don't be goofy, Leah, and like, stare them in the eyes and say, this is what I need to do, they'll do it. So doctors really, at the end of it, have really turned out to be fantastic. It was just my way of communicating with them of, like, what I need, what's important. And they usually now will. Will follow protocols and such.

[Aaron]

And I tell people who have rare diseases, you know more about your disease than 99% of the doctors you're going to come in contact with.

[Rachel]

Yeah, right.

[Aaron]

Because you are going to go to the dentist, you are going to have physical therapy at some point.

[Rachel]

Right.

[Aaron]

And it's very important that you take ownership of that power and that expertise and you work with them in partnership to get you what you need. Because in the end, they are still the gatekeepers to the care.

[Rachel]

Right.

[Aaron]

And you have to work with them. But it doesn't help if they don't know what porphyria is. Porphyria is a disease of the liver, so that's where all of the drugs are metabolized. So pretty much any medication you take is going to have some sort of, you know, effect. But the dentist may not think about that when you are getting your root canal. And they don't plan for that.

[Rachel]

Yeah, like anesthesia, like. And all of my doctors know each other, so they will all have a conference call now. Having that family of doctors that care and understand and don't look at me like I'm crazy when I go in, you know, And I'm like, something hurts. And they're like, let's Google it. Is it porphyria or is it menopause? We don't know. It's like a fun game.

[Aaron]

This was an insane story in more ways than one. As I said, I had to do a lot of work to prepare for this episode, but I'm so glad that I did because I learned. I said it was as if I was going back to organic chemistry class. And, you know, it's that technical and detailed of an issue. And so I. I certainly don't blame those original positions for not thinking Porphyria. But it proves the point that the reason why we can't just be so hyper specialized is because if I never heard that story about porphyria, how am I going to help you? Even though I'm a, you know, ob gyn, and the fact that that orthopedic surgeon thought about that was. Saved your life.

[Rachel]

Saved my life. It was amazing.

[Leah]

This was incredible.

[Rachel]

Thank you. Thank you, guys. Seriously, thank you. I know I'm goofy and silly, but, you know, after almost dying a couple times, the things that are important, you know, now and if one person listens to this and it helps them because I have been there and just know you're not crazy. Like, you can be crazy in the fun way, but if you feel like you're crazy, you're not. Like, just be your own advocate. Find yourself a Rachel. Find yourself a Laura. Find yourself a Dr. Kalinsky.

[Leah]

Find yourself a fish tank.

[Rachel]

Find yourself a fish tank. You know, own it.

[Leah]

I feel like Stephen on snl where he's like, this story has everything. Vampires, kings, goldfish. It really does, though. This, this was a wild ride. And I think the one thing that stuck out most to me, and I know we've, we've talked about advocating for yourself before, but the pure determination she had to literally a recognized that she was looking crazy but still refusing to that from getting in her way. Right. Like she was going to stay in front of that fish tank, she was going to get the care she needed. And the sad reality is, is that sometimes that's what you have to do to get treatment, is you have to be and feel a little freaking crazy.

[Aaron]

Yeah. And. And you know, the fact that she had friends who were like an independent voice. Right. To vouch for her, I think also. And I call these, you know, the North Star believers. Right. They are the ones who are, they're not going to let you give up on yourself, but they're also not going to let anyone else give up on you. And so I think having Rachel and Laura, her friends there, certainly helped her, but really it came down to her and her self determination that she knew her body the best. She knew something was not right and she wasn't gonna take no for an answer.

[Rachel]

Yeah.

[Leah]

And I'm just thinking to what you just said. And it just dawned on me. I don't think we talked about the friends enough. But I think sometimes it's the difference between you seeking care and not seeking care is having that validation because it is so easy to feel crazy. Right. I know myself that I've struggled at times to look into things because I'm like, maybe I'm overreacting. Because again, we've talked about this in past episodes, women are taught that we are. We overreact too much. Which is hilarious, because if you've ever met a man who's got a cold, you know that that's not accurate. The man flu is a very real thing. So it's. It's just fascinating to see that that often is the reaction. But again, she had to make that choice to sit in front of that fish tank and demand attention.

[Aaron]

Yeah. And you know, when you go to an er, you are first encountering the ER triage, which is traditionally staffed by ER nurses who are very seasoned in what they do, and they are. They are trying to triage. Okay, are you impending death? Are you someone who you know can be seen in an hour? Are you someone who maybe we will do some quick vital signs and labs? And they are the true gatekeepers to the er. And so, as she said, besides the fact that she just felt like she was off, she didn't have any proof. There was no fever, there was no tachycardia. She just knew it deep down. And sometimes just knowing that isn't enough to convince the gatekeepers that you are worthy of an investigation.

[Leah]

What would you have done differently? Knowing what you know about nurse triage, is there anything you would have done differently or would you sat in front of a fish tank, too?

[Aaron]

Oh, if I was Leah, I mean, she did. She did everything. And I've said this before in other podcasts, if you are asking to be admitted to a hospital, you are very sick because nobody wants to be admitted to the hospital. So that is one red flag in a alarming way that something is very, very off. And I think it's also very discouraging for the doctors and staff to keep running tests and nothing coming back is abnormal. And, you know, she's getting sicker and sicker. There's nothing scarier to a doctor than that moment of, like, what is it? You know? And the fact that she had a super, super rare disease where you can't just pick up this disease on your regular lab panel or your CT scan or whatnot. You have to order the test knowing what the disease is in order to get the diagnosis. So if no one thought of porphyria, she was never going to get that porphyria test.

[Leah]

Shout out to the one doctor that thought of it eventually, because that really changed things for her. What I think is really interesting about her, too, is like, she Grew up in such a non medical world. And I think it's interesting because in a way that made her more connected to her body because she was raised kind of treating how her body felt versus maybe other people who would be more traditionally looking at their health by like their temperature or like traditional signs. Right. So it honestly, you know, we joked about that a lot, but it might have made her a stronger advocate because she was so in touch with her body.

[Aaron]

Yeah. And it's just a reminder that we are the experts in our body. And I was glad I could give her some words of that, that phrase, impending doom, because it's probably something she has struggled for a while to, to describe to people, but it is a well known kind of feeling. And I think again, anything that we can do to. We're trying to provide these proof, points, right. To say like, yes, we really do have something. When you keep going to the doctor and they tell you, oh, it's just anxiety or oh, it's too much stress, we're always looking for those proof points to be like, no, it's not the bread. Right. Like it's not the sun. And sometimes because we think, oh, well, just because someone said it who has a degree, we think, okay, well that is what it is. But you know, listen, 5% of all Americans are misdiagnosed every year. That's 12 million people. So it's happening a lot.

[Leah]

And I would, I would also say this, that doctors are imperfect people. Doctors have bad days, doctors make mistakes, doctors miss things. And I think we need to acknowledge that at times they're going to get things wrong. Not intentionally, not on purpose, but that's just being human. So if you don't feel like something's working for you, if your problems aren't resolved, it's okay to question those things. But I would also say it's not a good approach to also be like, all medicine is bad because you had one negative experience. Right. I think we think a lot, especially around medicine and absolutes. And the reality is it's kind of a gray subject matter. People are doing the best with the information they have, which is always going to be limited because nobody is all knowing.

[Aaron]

And I think Leah is a great example of that, where she had obviously this terrifying moment of almost dying due to a misdiagnosis. And yet she still is obsessed with her current doctors and loves them and is really grateful and really appreciative of the work that she can do in partnership with them.

[Leah]

Exactly. Because once you find that team of doctors that has signed up to unequivocally care for you, you immediately understand their value. And even even on the and even on the end of it, she's like, there's still times where people don't have the answers. But again, you don't need somebody to have all the answers. You need to have someone who has the desire to find the answer you need. Absolutely.

[Aaron]

Well, until next week.

[Leah]

The Medical Detectives is a Soft Skills Media production produced by Molly Biscar. Sound designed by Shane Drause if you have a medical story you'd like to see featured on the Medical Detectives, please email it to stories themedical detectives podcast.com.

[Rachel]

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 provider.