A (2:17)

Hi, Kathleen. Welcome to the Medical Detectives Podcast.

C (2:20)

Hi. Thanks.

A (2:21)

Well, Kathleen, your story kind of starts around your pregnancy. So can you speed us up to what happens when you first find out you're pregnant and take us on that journey?

C (2:35)

Yeah. I had had a miscarriage right before I got pregnant with my daughter. So when I found out I was pregnant with her, I was super excited. I was pretty young. I was 26. And we were just super excited to have this happen, but quickly realized pregnancy was going to be a lot harder for me than I had expected. I ended up with a condition called hyperemesis, which is where you can't stop throwing up and it's like morning sickness lasts all day and then lasts like. Usually morning sickness is primarily in the first trimester, but mine lasted so long that at my 26 week checkup, the midwife said to me, listen, you are still under your pre pregnancy weight. I don't care if you eat french fries for every meal. You have to eat food if you can keep it down. So finally managed to get that under control. I ended up on some drugs, a drug called Zofran that did actually really help. And by the third trimester I was managing, went into labor, ended up with a very long labor. I pushed for like seven hours and ended up having a C section. But we were both healthy, she was healthy, we were all fine and then had a really nice maternity leave. Just truly loved the postpartum time. Actually. I was just kind of hunkered down with my baby. My ex husband went back to work pretty fast. So after about three weeks it was just the two of us and we just hung out and went on walks and got coffee and it was pretty idyllic. And then I had to go back to work. And so this was, you know, I didn't have very much parental leave. My ex husband was working a job where he didn't have great health benefits. So I was working to provide the health benefits. Cause this was before the Affordable Care act and so we needed the health benefits and the money. And so I went back to work three months later. I mean, I'm lucky I got that much time. This was in April. I remember that month being so tired I could barely function. I was just so tired, like unbelievably exhausted. And so about a month after I went back to work, I got a cold. And so this was Mother's Day weekend. So first Mother's Day weekend, my in laws were visiting. We lived about three hours away from my in laws and my parents were in Portland and we were in Seattle at this point and you know, had a really busy weekend. Went back to work on Monday and I had a cold and I felt pretty gross. And I remember going to the pharmacy across the street after work and getting a bunch of cold medicine and just being like, I gotta go home and go to bed. So I went home, we ordered food for dinner and I ate dinner. I wasn't super hungry, if I remember right. A lot of this. This is where the memories start to get fuzzy. I remember eating dinner, I remember taking my daughter upstairs. So she's four months old at this point. Oh, and this is by the way, the night before my Birthday. So the next morning it's my birthday. So go upstairs, get my daughter ready for bed, feed her, take her back down to my mother in law who's staying with us and my, my ex husband. And I'm like, I'm, I'm gonna just take some cold meds and go to bed. So I went to bed. The rest of this is all what other people have recounted to me because I don't remember any of this. My ex husband usually left for work about 5am but he had a training off site that day and was going to leave later at like 7. So he was excited to sleep in. And so about 5:30 he woke up because the baby was screaming and I was just lying there. And normally I would have picked her up and nursed her and put her back to sleep. And he looked over at me and he noticed that I was gasping for air and turning blue. And he freaked out obviously and tried to make me respond, tried to get me to talk. He threw a glass of water on me thinking like maybe this would snap me out of whatever's happening. So I think all of this happened in a really short period of time. He called 91 1. He had to go downstairs to unlock the door for the paramedics. So he took the baby. His mom was staying with us downstairs and we also had a friend who was a roommate at the time. And so he threw the baby at his mom and was like, something's wrong with Kathleen. Went and opened the door. The roommate was out there by that time, like, what's going on? So my ex mother in law threw the baby at the roommate and ran up the stairs. Now if you know anything about my ex mother in law, she just, she's very deliberate in her actions. She's not a fast moving person typically. And by all accounts she sprinted up the stairs and she was a doula. So she knew cpr. So she started doing CPR on me because by this point it was clear something was very, very wrong. We lived in Seattle at the time. So the paramedic response was quite fast. I think within a number of minutes, like three to five minutes, like very fast. And so they arrived and apparently they had to defibrillate me in the bedroom, cut my clothes off, defibrillate me at least once in the bedroom. And then the whole time they're yelling at my husband, what drugs is she on? What drugs is she on? Is she drunk? And he was like, she's a breastfeeding vegetarian mom and we don't have a car. And we walk everywhere like, she's not on drugs. Like, you know, and now I realize they were probably actually asking for prescription medication as well. But the interpretation of that was just like, what are you saying to me? So they put me in the ambulance and I heard later that they apparently had to defibrillate me again in the ambulance. I crashed again in the ambulance. I was taken to the trauma hospital in Seattle, which is Harborview, and put in the icu. So at this point all they know is I've had a cardiac arrest, just spontaneous cardiac arrest, the morning of my 27th birthday and they don't know what to do.

B (9:08)

No signs, no signs coming.

A (9:10)

Nothing.

C (9:10)

No, nothing, nothing.

A (9:12)

And I will tell you just in terms of like rubric of thinking, a 20 year old with a cardiac arrest is cocaine until proven otherwise, right? So that, that is the number one suspect. So it's not surprising to me that that was what they were asking about and concerned also, you know, unresponsive overdose. So not surprising. But then once finding out what your background is and that you don't partake in those things, very strict, mysterious.

C (9:44)

Yes, very mysterious, very confusing. So we're taken to the icu. They induced a coma and actually did something that at the time was pretty revolutionary, where they induce a coma and cool your body. This was actually something that was pioneered by University of Washington, which works with Harborview. And this is now a widely available study and is now the best practice in these cases for preserving neurological function. So I was part of that study and I actually remember later having the study piece people call me and go through all of the consent forms with me to allow my information to be released into the study.

B (10:22)

Why would they cool your body? Why would they be like, let's just chill the body out?

A (10:28)

So we have a saying, you're not dead until you're warm and dead. So you can physically chill your body and by all intents and purposes be dead, but we are preserving your function so that when we reheat you and restart your heart that you can be saved. And for different traumas like brain injuries, for spinal cord injuries, this has been used as well. So this is a method to try and try and stop the deterioration that happens because of either a massive heart attack or a big brain injury and buy you some time to fix it.

C (11:15)

So I'm lying in the hospital in a coma and this all happened at like 5am so my ex husband had called our families and my mom ended up getting a flight up. Someone at her work bought her a flight and Just put her on the plane, basically, was just like, all right, I'm driving you to the airport and putting you on the plane. So she comes, and then my sister drove up. And so when they get to the icu, they lean down to hug me, and I'm in a coma, right? I'm intubated. I'm. I'm not conscious. And my mom realizes that my breasts were rock hard because I was lactating. And no one had thought that that might need to be taken care of. So if a lactating person does not have the milk expressed from their breasts, they can get an infection called mastitis. So that's a secondary infection. And those mastitis infections can actually progress quite quickly to be fairly severe and sometimes systemic if they're not treated. So it kind of boggles my mind that no one thought about that. And I realized that they're triaging. You know, they're like, she is alive. Box is checked. But, like, it's that cascading effect of things that I think often gets forgotten. So my mom and my sister then took turns the whole next, you know, time while I was in the hospital, pumping, Pumping my breasts while I was unconscious, which saved my milk supply. And they made that commitment. They did that for me. I mean, obviously, we couldn't use that milk, but they were able to pump that milk. So that when I woke up, you know, my mom said at one point, we have to do this for her, because if she wakes up and she doesn't have any milk, she is going to be devastated. And I would have been. I had fought really hard to breastfeed her. The initial month or two was really, really difficult, and I had really persevered through that, and it would have been very heartbreaking. So that's just a piece of this. So fast forwarding a little bit. I was in the hospital for, I think, like, five days. To be honest, I have almost no memory of this. And during that time, they did a cardiac mri, a cardiac MRI and an angiogram, and they put in a defibrillator. So an aicd. It's an implanted cardiac defibrillator, which was and still is the. The best practice in people with unexplained cardiac arrest. And it either is a pacemaker function, so it can tell your heart what rhythm to be beating and deliver the appropriate electrical impulses to beat at that rate, or it shocks you like an external defibrillator, but it's inside. So I got that imaging done. The written reports of those two imaging studies Are the only image written information I have from this hospital stay. Because this was 2008. This was pre electronic medical record or the very early days of electronic medical records. And so I don't have any of that information. So I have those reports. They released me home with no answers. Basically just like a follow up, follow up in four to six weeks with a cardiologist. We'll schedule some appointments for you. Here they are. A lot of, like, we don't really know why this happens, but you have an ICD now, so you're. You're safe if it happens again. Yeah, a lot of. Kind of. Well, shrug. I don't know. And I just remember having this impression of being really confused and really like unclear on what had happened.

A (15:04)

Do you remember when you woke up? No.

C (15:07)

No. This is part of why this, this event. It was really hard to metabolize and process it at the time because I had no memory. And all I had were seeing the event reflected in my loved ones who were traumatized and horrified. And here I am, a new parent, just trying to hang out with my baby and my family, and I'm getting all this trauma kind of reflected back at me, which, you know, I mean, people cope in the way they're gonna cope. Like, I know it was really, really rough on my ex husband and on my own mom and on his mom who was there, and on our siblings. It was really hard on all of them. So finally I'm home. I'm healing from the surgery for the defibrillator. They put it kind of under the top of your pec. They put a battery generator. So it's this battery. And in 2000, actually much bigger, they were kind of about this big. So when I raised my arm up, you could see the corner of it protruding out into my armpit space. And from that is attached a wire that's called a lead. And they basically put it into a vein and put it into your heart and then down in the ventricle of your heart. So the lower chamber of your heart, they attach it to the heart wall and so it's there in place. And it can deliver a shock if you have an inappropriate rhythm. So you have this incision here on your chest, under your collarbone, above the breast. And I was told I had lifting restrictions and my baby was a chonker. She loves nine pounds. She was the chonkiest baby. She was the best. She was 9lbs 7oz at birth. So by the time she was 4 months old, I couldn't pick her up. So my Mother in law came and lived with us because I couldn't lift the baby. I couldn't. Can't lift her to change her diaper, can't lift her to feed her. Someone could bring her to me to feed her, but I couldn't lift. So that was rough. And I think trying to navigate that and just all of the outpouring of support from friends and colleagues and all of that was lovely and very overwhelming because I didn't remember anything. So it was a lot. So we go in for this like six week checkup and I had seen a couple different people in the hospital and I remember my mom having super strong opinions that there was one of the doctors she didn't like and one that she, she really liked. And the one that she really liked had gone on sabbatical or something. So he was gone. And so we were dealing with this doctor that my mom had not liked. And I have. This is a fuzzy memory, but I remember asking, what is this? What happened? And I have a background in journalism and so I am a researcher and I had been researching and trying to figure this out and I'd come across some different stuff, including something called postpartum cardiomyopathy, which a cardiomyopathy that happens typically, actually pretty immediately postpartum. This was not immediately postpartum. But I was asking the doctor, like, could this be. It could, you know, and he's like, I guess that was kind of the attitude, like, I don't know, maybe. And so I left that appointment feeling really confused. And I had actually reached out to the researcher who does a lot of research, postpartum cardiomyopathy research, a guy named Dr. James Fell. I have no idea if he's still doing any of this. This was in 2008. So I emailed him all the notes that I had and he read it all and said he didn't think that this was postpartum cardiomyopathy. He was like, this just does not line up like the way that you recovered that it happened pretty far after birth. Like he just, he didn't think so. He was very kind and explained everything to me and we had a couple back and forth exchanges, but ultimately he didn't think that that was it. And then, you know, go ahead.

A (19:24)

But the reason, you know, the reason why this means so much is because you don't have any way to predict whether it's going to happen again.

C (19:33)

No.

A (19:34)

Right. And so you're just living in this anxious period where you don't know what caused it. So you don't know what you can do to prevent it.

C (19:44)

Right. And we. We had talked about having more than one kid, and this was sort of a, like, instant. You know, we had done sort of lazy barrier method contraception after her birth. And then this happened. And I was like, I think I have to get an iud. Like, we're not messing around with this. And that was really hard. We were part of a community at the time where all of our peers were having multiple kids. And so to kind of feel outside of that felt really difficult to have to have this ch taken away a little bit. And I had basically kind of been told, yeah, I don't know if you should have another kid. That was kind of just. The reaction was just like, yeah, I don't know from everybody. Everybody. There was just not a lot of clarity on any of that. And at that time, too. So one of the other appointments that we had that summer, they had suggested genetic testing. So we went and met with the genetic counselor. But mind you, this was 2008. Pre Affordable Care Act. Genetic testing was not widespread, and it was going to be out of pocket. And the genetic counselor said, you know, you don't. You don't seem to have any overt family history of this. I'm just not sure it's going to return very much. And we were already kind of like, we can't spend thousands of dollars on this. Like, we can't. We can't do that. And so it was kind of a, you know, we went to that appointment and just left being like, meh, all right, well, we're not going to do that. So a year later, almost exactly a year later, we moved to San Francisco and ended up establishing care at ucsf. And I don't know how this happened, but we ended up seeing this guy who is like, the head of electrophysiology at UCSF. His name is Dr. Melvin Scheinman. He is now in his 90s. He still does clinic. I've heard him called the grandfather of modern electrophysiology. He pioneered cardiac ablation in the 60s, which is a procedure for dealing with cardiac arrhythmias. So somehow we get sent to this.

B (21:45)

Guy that is very lucky.

C (21:48)

I. I wonder if someone actually read my chart and was like, this is a little weird. We're gonna put her with Dr. Scheinman.

B (21:57)

Yeah. Cause usually those guys, you have to go through, like, three other doctors who are like, I don't know, I don't know, I don't know.

C (22:04)

And residents who are confused and, you know, trying to Totally, yeah. He's like the final boss and you have to go through all the little bosses first. But no. So I see him and ended up basically reading. So he read the reports of the MRI and the cardiac angiogram. He did not see the films because at that point in time again, limited electronic medical records. And there was some talk of maybe I can get them from uw, but then they never did. So he's just going off of, of the report. So he finds one line in the MRI report that says that the shape of my ventricle was possibly consistent with something called takotsubo cardiomyopathy. So takotsubo cardiomyopathy. Takotsubo is the Japanese word for octopus trap. So it's a specific, it's a pot, an octopus pot. And it's like shaped kind of round on the bottom and. And then it narrows at the top and flares out and has a lip. So the shape of the ventricle and then the valve at the top of the ventricle resembles this, which is not the normal shape of a ventricle. It's also known as stress induced cardiomyopathy.

A (23:23)

So broken heart syndrome, sometimes they call it.

C (23:27)

Yes. And so it's typically diagnosed and it happens a lot in people who. This is like someone receives a shocking phone call and drops of a heart attack. It's that kind of thing. And so he said, well, that's kind of like not what happened to you. But you know, there's always atypical presentations of things. And given this note, I'm not sure we're ever going to know for sure. I'm comfortable calling it this. You've recovered really well, you know, you're doing great. I think you just should go live your life. So. Okay.

B (24:01)

Part of me feels that that's not it.

C (24:04)

Just wait, so this is so. So if we're counting diagnoses now we've got the one doctor saying, yeah, sure, I don't know, maybe it's postpartum cardiomyopathy. And then the other doctor saying, okay, I think this is takasuba. So we're at 2. Okay. You know that was actually really reassuring for me. It took some of that pressure off of me of like, am I gonna dropped dead again? You know, I ended up just living life for a number of years in the early like 2010 and to 2015. I like bike commuted all over the city. I did all kinds of physical activity. I was totally like just normal. Just normal. But I had a defibrillator and that was just kind of how I explained it to people. I'm like, oh yeah, I had a heart thing. It's like, it's no big deal. I have this defibrillator. It's like, I'm fine now, Everything's fine now. And I was able to live in that reality for a long time. During that time, the original battery from that 2008 defibrillator got depleted. So in 2013, I believe I had that replaced pretty easy. Outpatient surgery. Yeah, I went home the same day. How?

B (25:20)

Sorry. You know, I just went and got my battery changed.

C (25:25)

Yeah, that's kind of what it was. Like, had a friend, my ex husband was at work. Had a good friend who dropped me at the hospital, then drove my daughter to kindergarten. And then I like got picked up in the afternoon. Like that was kind of. It was, it was kind of wild.

B (25:40)

That's wild.

C (25:41)

Like having a Game Boy, like, yeah, kinda.

A (25:45)

You gotta switch out the, the AAA's.

B (25:48)

But they haven't figured out how to like get a charger in there.

C (25:51)

Well, yeah, I mean, so the good news is that batteries now have a longer battery life. So that battery life was what, like seven years? Now they're projected at more like 10. So. So that's good.

B (26:02)

Still feels kind of incredible when you think about it, that like this battery can hold power for seven years.

C (26:08)

Yeah, it's pretty. I mean, it's not doing a lot and yet my iPhone's on 5% every day.

A (26:16)

I know, I know.

B (26:17)

Yeah. It's all a scam.

C (26:20)

It's a scam. It is, it is. You'd think they could put those batteries in iPhones, but alas. And actually the story of how I found out that battery was dying is actually quite humorous. I was at work and by this point I had gone back to work. I was working in an office and so I was sitting in my desk and behind me was sitting this new guy, Matt, who had only been working there like a week. So I'm sitting at my desk doing something and I hear this noise and, and I'm thinking, what, what is this noise? And I'm looking around, I'm like looking under the desk trying to see what's happening. And I come to realize it's coming from inside my body. So I jump up and run over to him. He's the only other person in this room with me. And I was wearing a button down blouse and I just shove my chest in his face and I'm like, do you hear me? I'm beeping. And Poor, poor guy was like, yeah, like his, I don't know, fifth day or something. And I'm sitting here shoving my chest in his face. That was. We got to be friends afterward, so get that replaced. Then the next major thing was 2015, so I was divorcing my ex husband. I knew I was filing for divorce. He didn't know yet. I was trying to, like, get ducks in a row, figure out logistics, working with an attorney, but I was living in this limbo of knowing I was going to do this and not having done it yet. And so I was at work and I started to feel really weird, which is to say I started to feel like my heart was super racing and I felt like I was going to pass out. And I managed. So my whole office knew about my defibrillator, of course. And so I managed to say to my coworker, I feel like I'm gonna faint if I pass out. Call 911 and tell them I have a defibrillator. And by this point, I've slumped down on the floor. I've got my head between my knees. I'm breathing. And I managed to stave it off. Like, I managed to just breathe my way out of it. And I don't know. I don't know how much effect my breathing actually had because I have palpitations now, and they don't really respond like that to breathing. But, like, who knows? So go in. They, because I'm bionic, they can look at my defibrillator data and see what was happening. And so I saw a nurse practitioner who. I was at a different clinic by this time. Our insurance had changed, and so we now had Kaiser, not ucsf. And I couldn't get a referral back to UCSF to see this amazing doctor. I was just at Kaiser now. So I'm at this new clinic, and I've seen the. Not the cardiologist. So these have all been electrophysiologists, which is a subspecialty of cardiology. So cardiologists just do the heart. Electrophysiologists specialize in the electrical conduction system of the heart. And so the electrical conduction system of the heart is what makes your heart beat. Like, your heart beats because of electrical pulses. So they specialize in that. So I'm seeing this electrophysiologist and his nurse practitioner who runs the clinic that monitors defibrillators. I see her the most often because I see her at least once a year, sometimes twice a year, for checkups with. So she told me this nurse practitioner, her Name's Kim. She told me basically, if your heart had continued in that rhythm for, like, three more beats, you would have gotten a shock. And that was really scary. Uh, it was.

B (29:47)

You'd never gotten a shock before that you were aware of?

C (29:49)

Nope. No.

B (29:50)

Oh.

C (29:50)

And you'd be aware I had never gotten a shock. So she was really reassuring, actually. She was like, everything looks normal. I think this was stress. I think this was, you know, you are telling me you're about to get divorced. And this kind of lined up with that Takasubocardiomyopathy diagnosis, like stress induced. There was some talk at that point of something called long QT syndrome, which is an electrical conduction arrhythmia problem. But that was pretty quickly dismissed as like, no, no, you're. You're EKGs, they diagnosed this by looking at the interval between two specific points on one heartbeat on an EK and she was like, no, no, they're fine. I think this was stress. Manage your stress, get your divorce. Let's see how we are. So everything is fine. I get my divorce, change jobs. My kid is growing up. In 2018, I had to get a new defibrillator. So I had gotten the previous one in 2013. So this is only five years later because the lead failed. So the wire failed. So at one of these routine checkups went in, she looked at everything and she was like, huh, some of these numbers are weird. Let's get you an X RA and just make sure everything is where it needs to be. So they did the X ray to check the positioning, and the wire had come unattached. So the wire came unattached from the bottom of my heart and was floating, which means that if it needs to deliver a shock, it's not going to be able to do that because it's not actually touching the muscle. It needs to shock. So I have the defibrillator replaced. So I've got a new lead, I've got a new ICD and kind of just go on with life. So that was in 2018. So. So then we're in the COVID era. Up until this time, actually, in about 2017, 2018, I started running. I had always hated running, and my partner and I am re partnered now, and he and I joined a run club at our YMCA with this amazing coach who, like, really was truly amazing. So I started running, and I loved it. There was something about the. It's measurable progress. It's something you can do with, like, these really measurable milestones. And that felt so good. And literally a month before pandemic lockdown, I ran a 10K. And I was the kid who tried to get out of running at every chance I could. I hated running. Hated it. Like fire of a thousand suns. I would dread PE because we had to run. I hated it. And so now, you know, I'm. I'm being able to be this kid and, or this grownup who, who is really embracing this. So I run this 10k. I ran it without stopping or walking. I mean, I was real slow, but I ran it. I ran a 10K. So that was a real high point. So then lockdown happens toward the second half of 2020. They. By now I have the Bluetooth monitor so they can see my information. And if I have weird rhythms, it will send my doctor a message that's like, hey, you might want to check this patient's, this information and check it out. So end of 2020, they called me and said, we've seen some, some weird rhythms. Are you okay? And I was like, oh, yeah, I think I'm fine. I don't know. Sure. So whatever. Then into beginning of 2021, the palpitations really escalated and like kind of quickly, like, I think they called me. I looked back at my. When we ended up leaving Kaiser last year and I asked for my medical record and they sent it over to me as a 3,000 page PDF.

B (33:33)

Oh, dear Lord.

C (33:36)

So I.

B (33:36)

Just some light reading? Just some light reading.

C (33:38)

Yeah. I looked back through that yesterday and I noticed that I think the first time they reached out to me was in August of 2020, kind of continued into early 2021. I got like what they call a Zeo patch. So it's this heart monitor that sticks to your skin and you wear it for like a week to a month, and then that collects the data and you can press a button on it if you feel a weird rhythm. So that came back and it was kind of like there was some stuff, but it wasn't like enough to make them worry. But it's just kind of ramping up all the way throughout 2021. It wasn't like daily, it wasn't weekly, maybe it wasn't even monthly. But it was enough that I was like, oh, this is like a thing that's been happening to me. So May of 2021, I will remind you that my original cardiac arrest happened on my birthday, which was May 13, and in the early morning hours of May 12. So the day before my 40th birthday, I woke up in the middle of the night and had Felt like my defibrillator had gone off. Like, I woke up to a shock. And I had enough time to shout, oh, my God, like, smack my partner and be like, wake up. I think my. And I was going to try to say my defibrillator went off and it shocked me again. So I was fully awake for that second shock, and it was awful.

B (35:15)

All I'm gonna say is, your birthday is freaking cursed.

C (35:18)

Yes, it is. There have been other bad birthdays, too. I know, I know. It has not been historically a great day for me since 2008. So getting that shock was so intense, every single muscle in my body went a hundred percent rigid. I could feel it radiate throughout my body. Like, I could feel the pulse move through my body. And I saw the flash cross my optic nerve. Like, there was a huge flash. And I realized that's crossing my optic nerve now. Like, it just whited out. So it was really painful. And so my partner and I are just sitting there kind of shell shocked, like, what the fuck just happened? And this is. You know, I've now had this since 2008. So that's what, 12, 13 years I've had a defibrillator. It's never shocked me. But now I've been having palpitations. And so our first thought is, oh, my God, something's really wrong. Like, something bad has happened. So we call the nurse line and we're like, we. We should come in, right? I mean, and mind you, this was still Covid. Like, everybody was still just getting vaccines. Like, I had just gotten my vaccine eight weeks before. Like, this was still Covid times, AKA.

B (36:43)

The worst time to try to go to the hospital, period.

C (36:46)

Right? And so we call and they're like, no, no, yeah, you. You need to come in. Like, you need to come in. So we go to the hospital and they take me back and they start the full workup. I mean, the works, all the blood draws. They did an X ray to check the position because I'd had a lead, you know, what they call a lead dislodgement in the past. And so, okay, here is where I am going to get on my soapbox about medical devices. There are different brands of defibrillators, and the hospital that I got it installed at had a deal where on, like, even days, they put in brand A and on odd days, they put in brand B. And so I got the brand where they didn't have. Oh, and to look at the data from a defibrillator, they have a proprietary laptop that I swear to you, looks like a child's leappad from 2012. It is like the most comical, unserious piece of equipment.

A (37:52)

You're just bringing back bad memories. Because as an orthopedic surgeon, and let's say we have to do like a total knee replacement, you have to use, use cautery. In order to use cautery, which is electrical impulse to your body, you have to temporarily dismantle or turn off the defibrillator, which you do by placing this donut magnet over the device. But only the device rep, right. Like the St. Jude Device rep can come with the magic magnet donut and temporarily disable the. And I remember the laptop, the whole thing, it's coming back to me. But of course, you know, like we're ready to do this knee replacement.

C (38:34)

Like where's the St. Jude guy with the magnet?

A (38:37)

Nowhere to be found. And so I feel like.

C (38:41)

Yes. And so here's another side note. My defibrillator, medical device, soapbox. So this is a sidebar, but it's relevant. When they send a defibrillator to be put into someone, they have the battery and the wire. The wire comes in one length, one length, Guess, guess who it's made for. Men, Tall men. I am five foot two, I am lil. Like I do not have a lot of room in my torso. So when they put the lead in, there's just like extra wire. They gotta like, like get in there somehow.

B (39:21)

Yeah.

C (39:22)

And so the other piece is, you know, this whole time I've been in my 30s and I was swimming regularly, I was running regularly, I was occasionally skiing. Like I was not a totally inactive person. And most people who get defibrillators are older and sedentary. So you have this combo of ill fitting wire and more active person. And I'm getting a little ahead of myself, but that leads to problems. So you might be able to see where this is going. They have to call the device rep guy to come in. It's 3:30 in the morning. Dude is pissed, like palpably visibly pissed that he is there because they don't have my brand's machine in the ER because it's the less common one. So the dude has to come in, he brings in the machine and he's interrogating it. Oh, and he's wearing by the way, board shorts and flip flops.

B (40:33)

Sorry, back like that.

C (40:36)

Not my preferred attire in an, in an er Personally closed to a shoes seem wise to me. I would have at least expected a.

B (40:43)

Pair of crocs, you know, but like Here we go.

C (40:45)

Yes. Yes. So he ends up what they call interrogating my device so he can connect to my device. And he's looking at it and he's having me do all these things and I'm chatting with the nurse or whatever and he's like, okay, move your arm. Okay, put your arm down. Okay, do this, do that. And then he goes to me, don't move. Like, shouts it at me. And I'm like, huh? And he's like, do not move. And so it turns out he was seeing when I would just shift or breathe or talk interference, like electrical interference. And so basically the lead fractured. So the leads come. The wires come with a silicone coating on them so that you don't get interference from things like this. And their best guess is the lead fractured, the coating on it fractured. And to go back to, who are defibrillators made for? They are not made for short people with extra play in the wire who are more active than the average 70 year old. And so their theory is that I was just more active and the coding cracked. So now I've had a lead dislodge and a lead crack. So I've had two lead failures. So they turn off my defibrillator and I'm just sitting in the hospital bed. They're saying, you might need to have surgery today. We're gonna wait and talk to your electrophysiologist when he gets into the clinic at like 7. So we're gonna admit you and send you upstairs. So my doctor ends up calling me in the afternoon and he was like, so you've had two leads fail? I think doing the same thing a third time would be stupid. I am gonna take this to our cardiology grand rounds and we're going to talk about it. We're going to see if we can find a different solution because this is not working for you. Great. I actually super respect that he told me that and that he did that and that he admitted. I'm not really sure what to do. I really respect that. That's probably the thing about his care that I respect the most over the years. So the decision is made that they are going to send me to the regional cardiac hub for Northern California, Kaiser, which is in Santa Clara, about an hour south of where we to have surgery, to have a different kind of defibrillator replaced. So this is a new kind of defibrillator called an SICD, a subcutaneous ICD. So this was not something that existed in 2008. This would now have been if my original cardiac arrest had happened now, this is what I would have gotten. So this is a different type of device that sits. The battery sits on my left side under my latissimus muscle on top of my rib cage. And then the wire doesn't go into your heart at all. They run the wire from the device basically under my breast, turn it right at the base of my sternum, and then run it up along to kind of, oh, I don't know, couple inches under my clavicle. So the wire is going around my heart on top of my rib cage. It's not inside my heart at all. So if something happens to the wire, it's less invasive to fix it. This device cannot do pacemaking because the pacemaking has to happen inside the heart, but it can deliver the shock. So during the process, to get that device, I had to do another cardiac stress test. So cardiac stress test is where you run on a treadmill and you're hooked up to an EKG machine, and they basically watch what happens to your heart, and then they'll stop it and have you sit down and they'll see how fast do you recover. So this was part of. To make sure that this device would work for me. They had to check some parameters while that was happening. So I have this test and the results come back, and they were a little concerned about that thing I mentioned earlier, the QT interval, which is that space between the two places on one heartbeat in an ekg. And basically they looked at my history and my medication list and noticed I'd been taking Zoloft for a number of years. And Zoloft is a medication that is known to prolong the QT interval. And so they said to me, you know what? We just need to wean you off Zoloft. I was like, that's fine. I'd actually been kind of thinking about that anyway. Let's just wean me off. So I did actually a really quick taper, which was miserable. Trying to taper Zoloft is not a fun experience. But I got through that, and then they were like, okay, cool. Everything looks good, Everything's fine. So I get this. This surgery. So this is May of end of May 2021. It went smoothly, like, everything was fine. So end of 2021, I start having more palpitations. The palpitations are just ramping up. So this is. I have not really ever had palpitations until they started a little bit in end of 2020. And anything my device had picked up previous to that could have been attributed to exercise, like high heart rate, but due to exercise. So I'm now having all these different kinds of palpitations and they put me on a beta blocker basically. It's just getting a little weird. And then we get into early 2022 and I start having. So I had been having some just tachycardia, which is high heart rate, which again they had for a while attributed to probably just exercise. So I'm having a little bit of that. I'm having some premature atrial contractions and premature ventricular contractions. So that's. They're PACs and PVCs is how they're they're called. And that's basically like where your heart is beating and then it feels like you have an extra super hard beat and then it pauses and then it kicks back in. Some people feel these, some people don't. At the time, I sometimes felt them. Now I feel them. I just had one. Like, as I was describing this to you, I had one. So. So it's getting weird. And so these then lead into having some afib. So atrial fibrillation, which is I think the most common arrhythmia. A lot of people have afib. There is some risk to AFIB of stroke is kind of the main one. So there are different rubrics and risk scores that they put all your data in and then they decide if you need to like be on anticoagulants to reduce your risk of stroke. I never really scored high enough to be put on anticoagulants. My AFIB was at this point it would last sometimes just a couple minutes, but sometimes as long as several hours, like maybe eight hours, which is really unpleasant. So AFIB can be a fast heartbeat, but it's a fast chaotic heartbeat. So it's basically your heart is beating in a syncopated rhythm. Like there's no pattern, there's no rhyme or reason. And it typically is pretty fast, so, so slow. AFIB for me is around 110 beats per minute. Some of the worst AFIB I've had has been up like 190 to 200 beats a minute. So it feels the faster it is, the worse it feels. And it feels like you're having a panic attack.

A (48:22)

And the reason why you feel so terrible is that when the heart is beating so fast, part of the job of the heart is it has to relax so it can let the blood flow come in to then pump it out. And if you're beating so fast, it never allows the blood to actually get through the heart to then be pumped out.

C (48:43)

Yeah. So your limbs get buzzy. It feels like you're gonna faint. You can't breathe because the blood isn't getting there. To get reoxygenated, like, you're. You're just. It feels literally like having a panic attack.

B (48:56)

And you're stuck.

C (48:57)

And you're stuck. Yeah, there's. There's. At this point, there was nothing I could do. So I'm having afib. It's kind of ramping up. So I have an Apple watch. I've had an apple watch for years, and a number of years ago, they rolled out the EKG feature. So I started at some point in this period to take EKGs when I was feeling weird stuff because they can see it on my device monitor. But the other piece of this is with the subcutaneous icd. They don't have as clear of imaging. It's, like, much more blunted. It's much less accurate. So the apple watch can actually be a little more accurate. So I'm starting to get to the point where I can see what rhythm I'm in. Like, on the EKG, I can tell. Is this PACS or is this AFIB? So I started tracking, and between August of 2022 and December of 2022, I didn't go more than nine days without AFIB, which is not that, like. So this is the thing. If we're looking at AFIB on a continuum, that's actually not that much. Like, there are people who are in AFIB constantly. Right. So they're looking at me and they're like. I mean, that sucks. I guess, like, they weren't unkind about it, but they were also just like, well, this kind of isn't that acute from our standpoint. So I'm on beta blockers. They then end up giving me this medication called flecainide. That's an antiarrhythmia drug. So flecainide is like big guns drug. It's a pretty intense drug. And so they give me this basically to take. If I am having afib, I take a mega dose of it to terminate afib. Come to find out, it works. So if I'm having an AFIB episode and I take flecainide, it terminates in. I am not kidding you. Almost exactly 60 minutes. Like, it's bizarre. It's very. That's. It's very consistent. So, all right, so I've got the flecainide, but the side effect of flecainide. So if beta Blockers make you feel dreadful, like you can't catch your breath, like, you know, you have no energy. Flecainide is like that, but more. And so I'm taking both beta blockers and flecainide, and if I take a dose of flecainide, I feel like hungover the next day. Like I just feel just exhausted. And Even climbing the 12 stairs in our house, I have to stop at the top and catch my breath and feel. I can feel blood isn't getting to my extremities. Like I need to rest and let the blood catch up.

B (51:28)

You describing this to me is making me tired.

C (51:31)

It's exhausting. Yes, yes.

B (51:33)

Oh, I could go for a little nap right now.

C (51:35)

That's how I feel on these drugs. So I'm not getting the runaround necessarily, but I'm not really feeling like the electrophysiologist is taking this seriously. You know, I had an appointment with him at some point in here where I had been tracking everything. And I will give him credit, like, there's a reason he's not my provider anymore. And also I think he's a really smart guy and I have appreciated his, like, clinical wisdom in other settings. But I had this appointment with him and so we're talking about the afib. What can I do? And I mean, the answer to that is like, there's not a lot to do. And he, he, he was not wrong in telling me. There's kind of like not that much we have to, to like help with afib. It's kind of the general, well, get good rest and exercise and try to lose some weight and if you have sleep apnea, treat it. So I had, during the pandemic done a sleep study, but it was an at home one. And it returned like, literally like the lowest borderline sleep apnea possible. And I tried a cpap. I cannot, I could not wear it. The sensory experience was I more power to you, Anna, because I couldn't do it. So I'm in this appointment with this doctor and he's like, well, I see here you had a sleep apnea diagnosis. And I was like, yeah, I mean, I'm wondering if I should get retested. And he's like, okay, well, you know, I'm also looking at this and seeing like, you might just want to lose a little weight sometimes that that can help. And by this point, I have indoctrinated myself into the land of I am going to not stand for this. So I stopped him and I said, okay, hold on, you're telling me to lose weight. Can you please point me to a study that demonstrates safe, effective, long term weight loss in greater than 5% of the population? And he just looks at me and goes, uh. And I was like, right. Cause it doesn't exist. And I'm also concerned about the cardiac implications of telling me to lose weight. Like, weight cycling is not good on your heart. So he just kind of gives me this blank stare. And I left that appointment feeling pretty hopeless. Like, okay, well, if I'm just getting the you should lose weight line, okay, I guess I don't have a problem. Like they're not concerned. So I, I, okay, so I'm on all this medication, I'm having all these palpitations. November of 22nd, we went to New York City, but my mom had turned 70 during the pandemic. And so we hadn't really been able to celebrate. So we took her to New York for her birthday. Her birthday was over Thanksgiving weekend, and it was her dream to see Hugh Jackman and Sutton Foster and the Music man on Broadway Way. So we've flown there from the west coast and we're all in the same hotel room. So my mom and my teenage daughter are in one bed and my partner and I are in the other bed. And we've flown, we're jet lagged. It's like 1am New York time and we're all about to go to sleep. So I leaned over on my arm to plug my phone in and all of a sudden I felt afib. Like there was no when I tracked, I tracked every afib episode I had from August to December of 2022. I wrote down what I was doing. How did it terminate? Did I use flecainide? Like, what was I doing? Had I been up really late the night before? The only things that I could find that were correlative, not causative were if I was extra overtired or extra dehydrated. Maybe that had something to do with it. So I'd just flown, right? So, so dehydrated, so.

B (55:27)

And maybe even tired too, right?

C (55:29)

I'd been flying all day. Like it's a long way from SF to New York City. So I thought maybe it would go away. And by this point, you know, maybe they actually hadn't told me to take 200 milligrams of flecainide to terminate afib. Maybe at this point they were having me take a much lower dose, I think, because I remember they didn't stop. And I ended up getting up to go in the bathroom because I was so uncomfortable. And my mom and daughter were asleep, and my partner came into the bathroom with me. And I remember taking. Oh, they. At this point, they had told me, take extra beta blockers. So I take in an extra beta blocker. I think I took, like, one flecainide because I was like, I don't know what to do. I'm just gonna take these medications I have. Maybe it'll help. And we were in the bathroom for three hours. We were watching my EKGs on my watch, and we are watching them creep up and up and up. And so my defibrillator is set to fire if it sustains heart rate over 200 for a specific amount of time. And it's not very long. Like, it's a matter of, like, I think, like, 30 seconds. I could be wrong, but it's not long. Cause obviously, you don't want to be in ventricular fibrillation for longer than, like, 30 seconds. So I'm watching the heart rate creep up, and we're starting to see numbers. 180, 190. And the thing is, it's not consistent. So the EKG app is measuring an average, right? So I'm watching it change as I'm taking an ekg and I'm panicking because I'm in a hotel bathroom in the middle of the night in a city that I don't live in. I'm having my partner Google best cardiac hospital in New York City. Like, we're trying to Google, like, okay, we have Kaiser. Is there any reciprocity with these hospitals here? Like, I don't know. So nice, because it was a nightmare. So were in there for, like, two and a half hours. It eventually calmed down a little bit. I was able to fall asleep the first thing the next morning. When we got up, I called and left a message for that same nurse practitioner that I'd been seeing for years at the clinic. She had given me her direct line a number of years before and was my point person. And, like, that really wasn't in her scope of practice. Like, she was doing this out of kindness to me because I was hard for me to get answers elsewhere. So, you know, it's 8am in New York. It's 5am on the West Coast. And so she called me as soon as it was. I mean, I think it was like, 7:45 in San Francisco. And she called me, and she was like, that's scary. I was like. So she had me take flecainide for the rest of that trip. 50 milligrams in the morning and 50 at night. And she basically said, I'm getting you into the electrophysiologist schedule as soon as we can. I think it's time for us to talk about cardiac ablation. So the rest of the New York trip, I was okay, except the medications made it so, like, I remember being in a subway stop with my daughter and there was a set of like, I don't know, 15 stairs, 20 stairs, and I had to stop halfway up. I, like, could not catch my breath. And like, I had run a 10k two years earlier. Like, like th. This was incredibly jarring. So come home, meet with cardiologist, the electrophysiologist, and we agree, yeah, we're going to do. We're going to schedule an ablation. But then the wait was like three and a half months, so I couldn't get an ablation till March. So the afib had calmed down a little bit. Like I was still having it some, but it like, wasn't quite as severe. So I go for this, this procedure and it happens to be. So this is happening at the. The same facility an hour south of our house. This was on a day when this winter California had a number of atmospheric rivers. And so this was on an atmospheric river day. And so driving down, it was super, super rainy. And again, it was basically like they wouldn't let my partner in with me, still citing Covid stuff. And he was like, well, where do I wait? And they're like, there's a cafeteria. And he was like, what? There's not a waiting area? And so he ended up going home also because, like, my. My daughter had to be picked up from school. And so it was just kind of one of those, like, he was like, I'll drive back down this afternoon. But it was this huge storm. And so he drove halfway down and realized it was like 70 mile an hour winds and insane amounts of rain. He stopped. He was like, I can't drive. So I have the surgery, they take me into recovery, and I'm in one of those surgical recovery areas where it's just like the curtained off base of like, beds. And there had been a complication. They'd been worried about a pericardial effusion, which is where. I don't know. Dr. Nancy, you explained this one. I'm not confident in my.

A (60:24)

It's just kind of some, like, fluid around the heart, so you can see it on an echocardiogram. There'll be some dark fluid. And what happens is that if there's too much fluid around the heart, it can constrict the heart, right? The heart's supposed to be pumping and beating. So something really bad can be called pericardial tamponade. That's when it be. You've kind of heard like on er, that's when they'll like stick the needle, right? You know.

C (60:53)

So I'm in this recovery bay and I had a nurse who I think was either brand new or a traveling nurse who did not know what he was doing. He was fine, but he, you know, I would get. I remember they came and gave me pain meds at 11:30am and because of this pericardial effusion possibility that ended up not being a thing, they wanted to keep me overnight anyway for observation. Fine. So that all happened. I recovered from that. I stopped having afib as much they don't like. I don't think that I meet the criteria for a successful ablation because I still have AFIB sometimes. But it reduced the burden enough that like, I felt like I could do things like. So that was in March, in July that year, we went to Europe. I walked everywhere, you know, miles and miles through the streets. It was great. And then came home and in August I had more arrhythmias. So I started having PVCs regularly. So I'm on and off of beta blockers, I'm on and off of flecainide. I end up having another one of those Zeo patch monitor things to track everything. And so I actually looked up the notes from those results and. And he describes this as I was having atrial runs, non sustained VT PVCs and PACs. So it's like a lot of different arrhythmias, which it is my understanding that's kind of weird for there to be so many different kinds of arrhythmias. So I'm just sort of at this point I'm like, I guess this is my life. I don't know how to manage that. I may in double therapy. I have my regular therapist and my like body trauma therapist. Literally like two therapists. Because there's so much from this. So fast forward to November of 2024. So this was about a year ago. I went in to see that same nurse practitioner because the software on my device needed a patch. So I'm now in this place of like, yeah, the software failed. So, you know, you need to have this, this new thing installed. So I went in, she told me she was retiring and we had a conversation because by this point I have realized that the care and personalized care that she was giving me for years, was outside her scope of practice. And I said that to her, and I said, thank you. Like, I'm sorry. I can see in hindsight that was a lot, and it really wasn't your job, and I am so grateful for that. She is just so lovely. And we had a conversation about, I've been having all these palpitations, and she. She just says to me, you know, I'm not really one to generalize, but we have a new cardiologist on the team who only sees women, and I'm wondering if you'd want to see her, which was her code for, hey, I think you should see this lady. Like, I don't think most providers are going to. To maybe be quite that upfront. So I said, sure, yeah, let's do it. So she walked me down the hall to that person's scheduler, and they booked me an appointment for, like, two weeks out. So, again, this is like, this doesn't happen. When do you get in to see a specialist? In two weeks. So my partner and I go to this meeting, and this woman comes in, Dr. Naderi. And she is this mid-40s beautiful woman who just comes in and makes eye contact and is like, I read your chart and, wow, your case is so fascinating. There is so much going on. I want to try to get you some answers.

B (64:29)

Yeah, this is the lady that's going to find it out 100%, because she came in like a detective and was, like, curious.

C (64:36)

This is.

B (64:37)

I'm going to solve this. Oh, she's a. She's a closer.

C (64:40)

She's a closer. Love her. I love her so much. So she orders a ton of tests, ton of tests. Tests. So a new echocardiogram, a CT scan, genetic testing. Finally, you know, she's ordering all of these tests for me, ordering some, like, referrals to specialists, where she's like, we're gonna just throw it all at the wall and see what sticks. So she says to me, okay, my working diagnosis now is maybe sudden coronary artery dissection for your original heart event scab. It's where your coronary artery suddenly explodes. Okay. It happens a lot postpartum during. She says that most of the people generally in her clinic are people during women during hormonal shifts in their life, so around pregnancy and then around perimenopause. And that it would not have surprised her that there's a lot about it that sounded maybe like scad. Because. Because it's one of those things that they weren't really looking for it in 2008.

A (65:43)

Yet on a larger level, you may have heard of the term aortic dissection, and that's when people's aortas split and they die.

C (65:53)

Yeah, yeah. So they weren't looking for it. And it apparently is much more common than previously thought because nobody was ever looking for it. And so she was like, I don't know. So we're gonna do this CT scan that's gonna like, study the veins in your neck and see if we can see any abnormalities, you know, et cetera. So I go for all these tests and she told me in that meeting that it was a little bit of a red flag because it was a little weird that I was having both atrial and ventricular arrhythmias. In the chart, I read what she wrote of all of the different arrhythmias, and it was. I was having intermittent afib, supraventricular tachycardia, pvc, these pacs after an AFIB ablation, which is supposed to stop all of that. And so I think seeing all of those arrhythmias written out is interesting to me. No one flagged that. I mean, I think they just saw a young person who wasn't having afib 24 7, and they were just like, sorry, here's a beta blocker. It sucks, but we don't consider this dangerous. So.

A (67:06)

Shrug.

C (67:08)

So I end up doing all these images. The CT scan is inconclusive. The echocardiogram is totally normal. All my echoes forever have been totally normal. So that's looking at the structure of your heart. Totally normal. And then on January 2nd, I got the genetic test results, and I was positive for an incredibly rare genetic cardiac abnormality. So I get these results, I meet with the geneticist. So the mutation is on a gene called CACNA1C. So you say that CACNA1C. So that's the gene. And CACNA1C mutations mostly manifest in super severe syndromic problems in newborns and small children. Syndromic, meaning it's affecting multiple systems. So these kids have severe, severe cardiac problems, severe developmental delays, some craniofacial abnormalities, like their skulls are shaped a little different. And the prognosis is really, really grim for these kids. Like a lot of them end up not making it very many years. So that syndrome of things is called Timothy Syndrome. It's named after Dr. Catherine Timothy, who is a researcher who had. This is her life's work. She started studying this decades ago. She's still working in this area. I actually, after I got this diagnosis, I registered my information with one of the Timothy syndrome organizations and, and she called me personally within a couple of hours of my submitting that form because she was like, wait, I'm sorry, you're how old and you were not diagnosed until how old? And was really flabbergasted that I had had no problems until I was 27. So there is a non syndromic form, which is what I have. There's some squishiness around how we term these things. There's un. Not a lot of clarity on do we call this timothy syndrome type 2 or a CACNA1C related disorder, or do we call this non syndromic long qt8? So basically what this does in me is it creates that QT interval that I've mentioned a number of times. It prolongs it and it's confusing. And the reason nobody caught this is because it wasn't consistent, it wasn't happening consistently. I would have these occasional borderline or slightly long QT intervals, but it was always attributable to I was taking Zoloft or I was on another medication, or maybe it was just borderline because that does happen sometimes. So basically this super rare genetic mutation, and this is where, I'm sorry, the chemistry lesson is going to come in. Buckle it up, buckle it up. So, okay, we've already talked about how the heart beats based on electrical impulses. Yes. So we all have molecules in our body that carry an electric charge or don't carry an electric charge. So these are like electrolytes. Right, like they're electrolytes because they are those things. So sodium, potassium, calcium, these all have ionic charge charges. So what this mutation does in me is when those heart muscle cells beat or when they are working, they have to take in and let out the appropriate numbers and quantities of those molecules to make my heart beat correctly. So this one, because it's a CA gene. CA yeah, CACNA1C. See, it's a calcium gene or a calcium related function. So it means my body likes to take in too many calcium molecules, which means there is too much electrical charge in those cells and it doesn't release them fast enough. So then my heart doesn't want to beat. Right. Basically. And so that basically means I've had a couple of people say different things to me. So one said, your heart is just exquisitely sensitive to any insult. So like anything that can make. I mean, this makes my heart sound like a drama queen, but it kind of is a drama queen.

B (71:51)

It makes you sound like a fragile flower. And from what I've heard, you do not seem like a fragile flower.

C (71:55)

Well, right. And that's kind of part of the mind game of it all, is that it's been hard to metabolize these results. You know, somebody else else said to me, Long QT8 is a weirdo. Like, it's just a weird mutation. And that same doctor said to me, the reality is every cell in your heart wants to be naughty all of the time. Like, they just don't want to do their jobs. And so there's been a lot of confusion. So my doctors at Kaiser were like, we've literally never heard of CACNA1C mutations because it's normally in children. And so that lovely doctor, she was not an electrophysiologist. And so she was like, yeah, this is outside my wheelhouse. It can't be your primary doctor. And so we made the choice to leave Kaiser, switch insurance, and go to UCSF where we could see some specialists who have heard of it. So that's the low bar here. So throughout this time, we end up getting connected to an electrophysiologist at UCSF who is also a geneticist and she is pediatric. So she ends up seeing my daughter. Because now the concern is, this is genetic. Could my daughter have this? No, she does not have it. We had her tested, thank God. We had both of my parents tested. They both tested negative. So then the question becomes, how did this happen? What I have since learned is that a lot of CACNA1C mutations are what they call de novo. So it is not found in either parent. It's a new mutation that happens in, in the child. So it could have been a mutation in the sperm, could have been a mutation in the egg, could have been a mutation during those early, early days of gestation of basically cell division, like rapid cell division time. Like, we're not even gestating yet. The embryo hasn't even implanted. So they don't know. They don't know. But no one else in my family has it, which is a huge blessing. I was so relieved. The months where we were trying to figure out, does my daughter have this? Were incredibly anxiety filled for all of us. But she was perfectly, perfectly healthy. So that was a huge relief for us. So my presentation of this is weird. Like, they think that this may not have shown up until I was 27, because every gene has different locations on the gene. So exons, these are different places on the gene. And some of those exons have an alternate exon. So it's an alternate transcription of the gene. And so if it's using the primary one or the alternate one, you can get different results, like different output. And so the theory is mine is on the alternate transcription. And so they're thinking maybe I just never had this before 27, because it didn't switch to the alternate transcription. And that's why I'm fairly low symptom. I mean, I don't have blood sugar issues or developmental delays or any of the other suite of symptoms. And so, so there is also. It's not only what gene it's on and where on that gene it is. It's what the substitution is, it's what the mutation is. So my mutation substitutes. Okay, I have to look because I always get this mixed up. A glycine instead of a serine. So these are the proteins that, like, encode DNA. And so that's that specific mutation in the specific location on the alternate transcription. There is nobody else in literature with that exact constellation of things, like one.

A (75:40)

That doesn't exist, one in the population.

C (75:43)

Yeah, the billions. Right. And I mean, who knows? There probably is somebody else out there with it. But not everyone is getting a full cardiac genetic panel done. So basically now I'm just, you know, I am in a place where I have arrhythmias. I kind of have them a lot.

A (76:04)

And just to give some, again, background chemistry lessons for everybody in the Little Med School 101. But you can kind of think of your heart like a concert hall. And you have a conductor, and that's the electrical system. And the conductor raises baton, and that's when we know to start the music. And the musicians themselves are like the chemicals. So the sodium, the potassium, the calcium. And if the electrical. Right, if the baton is off, then the musicians start playing at different times. And it sounds like a cacophony. It's not a coordinated.

C (76:52)

Right.

A (76:52)

If one section misses their cue, then everything is off. So you can either have problems with the musicians themselves are off or the conductor is off. In your case, your problem is the musicians are off. No one showed up in the drum section, and so nobody else knows when to start. And so you can think of it like this interplay between electrical and chemical, and they both have to work in harmony to create a song.

C (77:25)

Yeah, they do, and mine don't. After I got this diagnosis, one of the things that you do with any Long QT syndrome. So mine is long QT8. There are now, I think, 12 different forms of long QT. And so it's basically long QT is the same result. You're getting the same results on an EKG, but the mechanism behind it. So to your analogy, Dr. Nance, some people's potassium or sodium are incorrect. And so, you know, they don't have any woodwinds or any violins. And so the mechanism of this happening is different in everybody. And one of the things you do with long QT is there's all these drugs that we now know prolong the QT interval, so you can't take them anymore. So when I look back across my history, Zoloft is on that list. Zofran, which I took completely, totally during my pregnancy, is on that list. Cold medicine. I've wondered, in hindsight if my original cardiac event was. I was exhausted, I was worn down, I was sick, and then I took a bunch of cold medicine and my body was, like, very common. Yep. So all of these things, I can't take anymore. And so when I got this diagnosis, they had to take me off of some medications that I was taking. And that's all been dialed in. Now I know what I can and can't take. I have alternate medications, but I'm at the point now where I'm having palpitations again. I am now taking beta blocker every day, and I'm now actually taking flecainide every day again. So the same dose I was at on that trip to New York, I'm now taking daily. It's not great, you know, it's not ideal, and there isn't really a solution. And again, I'm kind of in that bucket of. You're not really that acute, so we don't really know what to do with you. Last year, my daughter is in high school, and she goes to an arts magnet school, and she made a film about this experience and about my heart stuff. And she actually ended up interviewing that pediatric electrophysiologist, geneticist. And at that interview, she and I were just chatting and I made some comments sort of downplaying, you know, me saying, oh, well, you know, my stuff isn't very severe. Like, I don't, you know, whatever. And she just stops, and she looks at me and she's like, no, I consider your. Your case actually quite severe. She was like, you had a cardiac arrest. Like, you have a very rare genetic mutation. We don't know how to help you any more than we already are. This is severe. And that was, like, unbelievably validating to hear that, because it feels, even when I'm Having palpitations all the time. I feel like I have to downplay it. And I think part of that is that the cardiologists don't really think it's that severe. So I'm like, okay, well, I guess I shouldn't think it's that severe. Like, no, I'm not having afib for 24 hours straight, but I'm having afib for long enough that I have to take a ton of flecainide. And that's awful. And it woke me up last night, or I was just sitting on the couch and it started, or I was on a walk, you know, and it has impacted my life more than I think I expected. And I think to be in this position of. Yeah, we, like, kind of don't know what to tell you because you're so rare. We don't really know. That's like. It's kind of a terrible place to be.

B (80:53)

I will never forget something that was said to me in the hospital that I think about it all the time, where someone said, well, we're probably not going to get any research on this or any improvement on this because it's so rare that there's no financial gain for someone to figure it out. And I think that that has its own burden. That has nothing to do with your, you know, your fatigue. The fatigue is one thing. Thing, but there's a mental burden of living with something that, you know, no one is actively trying to solve.

C (81:25)

Right. Yeah. And, like, there are people working on Timothy syndrome.

B (81:30)

Yeah.

C (81:30)

But that's not what I have, really. You know, there are people working on other forms of Long qt, but that's not what I have. And so there was some talk about a year ago with some of the doctors at UCSF about trying to do a case study on me. So taking tissue samples from different organ systems to see if all of the tissue samples have this mutation or if they can pinpoint either something called mosaicism or the point at which the mutation occurred. Because, like, if it's in the heart but not this other system that develops later, then maybe they can pinpoint some things. But given the instability in scientific funding, that just hasn't. Hasn't happened.

B (82:11)

Especially now.

C (82:13)

Yeah, there's just. No, I think it's also so up in the air. I mean, I think that's the other thing, too. I would love to be part of a study. I would love to help further this. I would love to contribute in whatever way, but it's just who the. For one person, like, it just. It doesn't make sense. And I've listened to all of your episodes and, you know, there's been discussion of orphan conditions and these things that just nobody's really doing anything about it.

B (82:39)

Well, and I think to. What Erin is probably going to say in two seconds, and I'm stealing her thunder, is that we believe very few people have these conditions, but we don't really know. The reality is, is we have a whole population that's also afraid of going to the doctor and just living with whatever they have as well.

A (82:57)

Well, probably one of the most frustrating things is when young women experience heart problems, they are termed atypical symptoms. And the only reason why those are called atypical is because. Because they are not the same symptoms that present for someone who has a heart attack caused by a blockage from plaque, from high cholesterol. Because who has that? Men have that. That's how men die of heart attack. There are so many different sims. Because your heart attack had nothing to do with plaque buildup.

C (83:35)

No.

A (83:35)

Or the second most likely, you know, that stage would have been drug, you know, induced. And so they just kind of said it was atypical. I don't know why it happened. But there was no investigation after, Right?

C (83:51)

Yeah. I mean, I think that's a huge problem that there's not. Not this. And I think you're right, Anna. There probably are more people out there with this. But do they have access to healthcare to even get tested? Are they gonna go to the doctor? And I think this is the other piece of. Of these arrhythmias that they're the, the sudden death arrhythmias that basically they can just spike and you die, is that people don't know they have them until it's too late. They die. And I think that's kind of one of the pieces of this. Like if my mother in law had not been visiting and doing cpr, if there hadn't been access to a defibrillator within a matter of minutes, you know, this would have been a totally different story. I wouldn't be here, here. And I think that's the thing where people, you know, CPR's efficacy is debatable depending on how it's performed, whether it's correct, you know, all of these things. But at the end of the day, your chances are greater with it. And then knowing how to use a defibrillator. So this is just the PSA is get the education so that you can do those things because you don't know you could be in the Grocery store. You could be anywhere and in your home like this could happen anytime, anywhere. And so people need to have that education so they know how to take care of people in those situations and improve their chance of survival.

A (85:12)

And for anyone listening, the number one first thing you do is you call 911 before you start CPR. The first thing you do is you call nine 1 1, because what's really going to help you is the time to an ACD or a defibrillator. So the first thing is to call 911 and then start CPR. It's not said enough. And people freak out in the moment. And that is even when I remember. You know, I, I first learned CPR when I was a lifeguard, 15 years old. And it's the same thing. You approach the victim on the floor and you turn to someone and you go, call 911 and then you start CPR. But Kathleen, thank you so much for sharing your story. I, I think you have been the most medically accurate guests we've had or most like in control of your medical history. Have you recounted this story many times before or.

C (86:12)

Yes, and I've written, I've written it out a number of times for my own processing. But I will take that award with pride. It feels. I got told by a French person once in France, I was speaking French to them and they asked me me in French, oh, where in France are you from? I said, oh, I'm American. And they were flabbergasted. So put those two things I will take as, as gold stars.

B (86:33)

You know what else I will say is like for someone who says they don't remember a lot of certain things that happened, you remember better than I remember.

C (86:41)

Well, I remember because I read my 3000 page, my chart PDF.

B (86:47)

I would have looked at that and I go, I've already had enough trauma from this experience. That was a wild ride.

C (86:56)

Yeah.

A (86:56)

And I think genetics really will be the answer for so many people with different conditions. The problem is, right, if there aren't a large enough cohort of people who have the same genetic disorder, you really, it doesn't give you many answers. It doesn't give you a roadmap. You don't know what to do to expect. You don't know what the prognosis is. So that is also a very frustrating place to be.

B (87:26)

And just because you have a gene doesn't mean that it's going to, I don't know the right word present into actual specific symptoms. So that's also a confusing part of all of this is that, yes, you could have a gene, but it could manifest differently. And sometimes, and this has been my personal experience, you have one gene and it means one thing, but if you have, like these three gene mutations together, it means something entirely different in terms of how it will affect your body. So you get into a world that is very muddy very quickly, and if you don't know somebody that specifically studies whatever it is you're looking into, you can very quickly scare the crap out of yourself based on the results.

A (88:15)

Yeah, I mean, genetics is an awesome power. It is something that I was just having this conversation with one of the research scientists at the University of Hawaii who they were basically part of the cradle of IVF innovation, and they pioneered a method called icsi. If anyone who's ever gone through ivf, they'll be familiar with that term. But it's a way to selectively inject sperm into. To the egg. And what we were talking about is that before the use of this genetic technology, you never had these moral questions, right, of, you know, when does life start? And what is the responsibility of the scientists who are also part of creating these discoveries? Well, they also are kind of important to helping figure out, like, what. What is the morality around everything? You know, we have. We've had this discussion before about if you had some terminal genetic disorder, would you test for it? Right. If you had Huntington's in your family, would you test for it? Would you get your children tested for it?

C (89:26)

Right.

A (89:26)

These are all big Pandora's box questions. So, you know, in this case, everything boiled down to a genetic defect and the fact that they were even able to localize it. Right. And the reason why she was able to, because let's just say, okay, we're going to recommend that everybody at birth get these genetic panels to try and, you know, screen for certain things. Well, there's no way you're going to able to screen for the millions and millions of copies of different genes. In her case, she already had the manifestations of this cardiac problem, so they knew to specifically focus on this locus on her gene panel to look for cardiac defects. And so sometimes you. You may not know until the damage has been done.

B (90:17)

Yeah, science is cool, but also kind of scary, like.

A (90:22)

Yeah, well, well, I'm glad that Kathleen found her answer. I hope it leads her to better treatment and hopefully more research. And I really applaud her for coming on because obviously, I mean, she went through the story with her divorce and this illness obviously had a major impact on her personal life as well. So I really want to thank her for coming on and talking about that side as well. Well, because that is a whole other the emotional, social, emotional part of misdiagnosis we don't talk about enough. But want to thank everyone for listening.

C (91:03)

Please.

A (91:04)

If you have a story that you think people would be interested, please email us at stories themedical detectives podcast.com please leave us a review, a comment Share this with someone who you think would love to hear it. And we just want to get more of these stories on the air. So someone listening who has an atypical symptom can hear themselves in these stories.

B (91:31)

Exactly. And it's my birthday and that's all I want for a birthday gift is for you to like share, comment and read. I gotta make the ass. It's my birthday, right? Like hey, hey.

A (91:44)

Why not.

B (92:09)

The Medical Detectives is a soft skills media production produced by Molly.

C (92:14)

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B (92:17)

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D (92:23)

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