Speaker 1: When I was walking back and I lost my vision,
Speaker 1: it was all gone. I did not know what was
Speaker 1: going on. Nothing like that had ever happened to me
Speaker 1: before in my life.
Speaker 2: Doctors just gave her a timeline of we don't think
Speaker 2: you'll look past your twenty fifth birthday.
Speaker 3: The life becomes so restrictive that the fear that dominates not.
Speaker 4: Becomes unbearable.
Speaker 1: I didn't have these long term dreams or goals because
Speaker 1: there was no long term I was just fighting survive
Speaker 1: every day.
Speaker 5: How terrifying would it be to fight an unknown enemy,
Speaker 5: one you didn't recognize and didn't see coming. What if
Speaker 5: that enemy was coming from within a disease that even
Speaker 5: doctors couldn't identify. Nearly half of my can suffer from
Speaker 5: some chronic illness, and many struggle for an accurate diagnosis.
Speaker 5: These are their stories. I'm Lauren Bray Pacheco and this
Speaker 5: is symptomatic.
Speaker 1: Hi, I've Sienna. If you haven't met me yet, I
Speaker 1: would say that I am a thirty one year old
Speaker 1: disabled girl in the world, just sharing my real life
Speaker 1: so that hopefully people like me see themselves represented and
Speaker 1: feel a little less alone.
Speaker 5: Sienna Deetree is Sunshine in a bottle. She moves through
Speaker 5: life with contagious enthusiasm and undeniable warmth. She is vivacious, creative,
Speaker 5: and talented to boot with a tenacity for squeezing the
Speaker 5: juice out of every lemon. She has a large community
Speaker 5: of followers on social media, where she shares her incredible
Speaker 5: fashion and beautiful energy with her audience. So aside from
Speaker 5: being a social media star, slash influencer, slash advocate, what
Speaker 5: are your loves? What are your passions?
Speaker 1: I love surfing and I've always been obsessed with dogs,
Speaker 1: like I was a little girl at the library who
Speaker 1: checked out all the dog books and rotated between all
Speaker 1: of them. I love the color blue. I love cooking,
Speaker 1: I love reading, I love spending time outside, and I
Speaker 1: also play saxophone.
Speaker 5: Those Siena's true love of life is clearly present. She
Speaker 5: has faced many challenges starting from a very young age.
Speaker 5: Tell me what you remember in terms of your earliest
Speaker 5: memory that something might not have been going well with
Speaker 5: your health.
Speaker 1: I think my earliest memory is I don't remember a
Speaker 1: time when I didn't have migraines, Like I just thought
Speaker 1: everybody had terrible headaches almost every single day. I know
Speaker 1: that my mom will tell me that I'd be crying
Speaker 1: as a baby the middle of the night, or she'd
Speaker 1: come to check on me, and when I was sleeping,
Speaker 1: I'd be purple and she was just like, why my
Speaker 1: baby purple? That doesn't seem normal. But they kind of
Speaker 1: wrote her office of worried first time mom, what would.
Speaker 5: Be the next major symptom that manifested itself in your childhood.
Speaker 1: I remember anytime I would stand up, everything would go black.
Speaker 1: But I thought that was normal, And then I just
Speaker 1: started to think all these other things that I would
Speaker 1: notice were also normal. I would play soccer and my
Speaker 1: legs would get heavy, like I was walking through cement
Speaker 1: or I had cement boots on, and I'd see the
Speaker 1: other kids sitting on the sideline and I was like, oh,
Speaker 1: that's why they went and sat down too. Their legs
Speaker 1: must have been really heavy. So I just assumed everybody
Speaker 1: else had these experiences.
Speaker 5: When was the first time that you remember your parents
Speaker 5: keying in on something not being normal and taking you
Speaker 5: to the doctor.
Speaker 1: My parents were really big about taking me into the pediatrician.
Speaker 1: My mom knew there was something going on, Like in
Speaker 1: my parents' head, I was already the sick kid. So
Speaker 1: they would take me to the doctors and the doctor
Speaker 1: be like, Okay, that's fine, maybe she's gonna get her
Speaker 1: period soon. I'm in like third grade. That was absolutely
Speaker 1: not it. They would just turn it into these other
Speaker 1: things and just kind of like write it all off. Eventually,
Speaker 1: it was just like, what's the point.
Speaker 5: Do you think it's possible that your effufescent personality may
Speaker 5: have in some way worked against you in those interactions
Speaker 5: with doctors?
Speaker 1: Well, definitely, it definitely did. I remember as I got
Speaker 1: older and we'd go to see like specialists, my mom
Speaker 1: be like, so today we're gonna be a little more chill,
Speaker 1: We're gonna look a little more sick. And I was like,
Speaker 1: what come again, Maybe like let them see how sick
Speaker 1: you actually are. Don't tell them about your best days,
Speaker 1: tell them about your worst day. Your worst day needs
Speaker 1: to do what they think every day is like.
Speaker 5: Although Siena spent her childhood in and out of doctors' offices,
Speaker 5: being sick was never something that she felt defined her.
Speaker 5: She had an active social life, she played sports, she
Speaker 5: was a good student, and she mastered the art of
Speaker 5: musical performance. But as she got older, new symptoms started
Speaker 5: to pop up. So things are progressing, the migraines, the lightheadedness,
Speaker 5: the heaviness of the lower body, and even things going
Speaker 5: black when you stood up quickly. And then there was
Speaker 5: the fateful day of marching band practice. What happened?
Speaker 1: I think that was probably one of the scariest days
Speaker 1: of my life. It was before my first day of
Speaker 1: ninth grade. I was going into high school. I was
Speaker 1: very excited but nervous. But I was so excited because
Speaker 1: it was our first day of band practice before going
Speaker 1: away to band camp and I loved playing saxophone. We
Speaker 1: went out to practice on the field. It was perfect.
Speaker 1: I learned about like marching for the first time. I
Speaker 1: was like, this is so cool, This is so fun.
Speaker 1: And then we came inside and I had to go
Speaker 1: to the bathroom, so I was like, cool, put my
Speaker 1: sex phone down, walked over to the bathroom and I
Speaker 1: was walking back and I lost my vision. It was
Speaker 1: all gone, and I did not know what was going on.
Speaker 1: Nothing like that had ever happened to me before in
Speaker 1: my life. It was tunneled. Everything got darker, and then
Speaker 1: it started tunneling out. While everything was darker, I had
Speaker 1: to figure it out. I heard the noise. I'd never
Speaker 1: been in this building before, so I kind of like
Speaker 1: followed along the wall, like touching it. I remember like
Speaker 1: following it back to where I knew the bandroom was.
Speaker 1: I heard my lesson teacher's voice, so I followed that,
Speaker 1: and there was like a little office in the bandroom,
Speaker 1: and I heard her and there apparently I was just
Speaker 1: as pale as could be. My lips were like purple,
Speaker 1: my fingers hands were like purple. She took one luck
Speaker 1: at me and was like, you need to sit down now.
Speaker 1: So I sat down right when she told me to
Speaker 1: sit down, and I actually sat on someone.
Speaker 6: She just happened to sit on me.
Speaker 5: That is Hollie.
Speaker 1: I'd never met her before, but today we're best friends.
Speaker 2: She just sat in the first spot that she thought
Speaker 2: was available, or remembering where there was a couch.
Speaker 5: These two have been able to connect on a level
Speaker 5: more than most because Holly has also struggled with her
Speaker 5: own chronic health conditions.
Speaker 2: I felt invisible for a second, and then we realized,
Speaker 2: oh no, we really didn't understand the full magnitude of
Speaker 2: it that she couldn't see me. We knew she had
Speaker 2: some health scares and health mysteries going on, So sitting
Speaker 2: on me, it was just like I gave her a
Speaker 2: nice big hug and told her to stay there.
Speaker 1: Oh yeah, that's how I met Holly and my vision
Speaker 1: all on the same day.
Speaker 5: Did you go to the doctor after that incident?
Speaker 1: Actually, I called my dad and I think we just
Speaker 1: went home.
Speaker 5: And then after that day what happened.
Speaker 1: As high school went on, I got really sick. Everything
Speaker 1: just started progressing, which was not great timing because that's
Speaker 1: when you're trying out for music schools for college. Is
Speaker 1: your junior year. A lot of doctors were just like, Oh,
Speaker 1: it's stressed. You got big math tests coming up, you
Speaker 1: got a big audition. I was like, I'm excited for
Speaker 1: this audition. I don't know what you're talking about.
Speaker 5: No formal diagnosis is given to you.
Speaker 1: So in the beginning they were just like, oh, it's
Speaker 1: all complex migraines. That's literally everything you're experiencing is complex migraines.
Speaker 1: And then they added epilepsy. Here's a bunch of different
Speaker 1: epileptic drugs. Let's try them all out. So we did,
Speaker 1: and that was somewhere between my junior and senior year
Speaker 1: of high school.
Speaker 5: The reason why you had escorts in high school. Was
Speaker 5: because of the epilepsy.
Speaker 1: I was passing out multiple times a day a lot,
Speaker 1: which is why I had to have people in the
Speaker 1: hallways with me in high school. They actually told my
Speaker 1: parents it was a liability issue at one point, and
Speaker 1: they're like, I couldn't be alone even if I had
Speaker 1: to go to the bathroom. Hey, so, whoever do you
Speaker 1: want to go to the bathroom with me? I gotta go.
Speaker 1: It made me feel terrible as a high schooler, like
Speaker 1: not only did I know literally no one else like me,
Speaker 1: but then you always had to ask other people to
Speaker 1: help you. That wasn't a part of me that I
Speaker 1: was ashamed of either, Like it was just one part
Speaker 1: of me, and it did impact my whole life, but
Speaker 1: it was still just one part of me, like how
Speaker 1: my eyes are brown.
Speaker 5: Somehow, despite debilitating migraines, episodes of heavy legs and arms,
Speaker 5: loss of vision, and fainting, Sienna had become a star
Speaker 5: saxophone player and was made first chair in her high
Speaker 5: school band Take Me to Your Senior year Saxophone concert solo.
Speaker 1: I had been super excited for it. I had been
Speaker 1: dreaming of this moment for years. I'd done tons of competitions.
Speaker 1: I love performing. I'd never had stage frights, so that
Speaker 1: was not part of it. And I got to the
Speaker 1: concert and everything was fine. Then playing the solo, it
Speaker 1: started all falling apart. I played my solo. I was
Speaker 1: smiling afterwards and shaking the director's hand, getting these flowers
Speaker 1: the whole nine yards, and it became hard to smile.
Speaker 1: I couldn't do it, so I went back to my
Speaker 1: seat and it just became harder to move. Everybody else
Speaker 1: left the stage, and I couldn't get up to leave
Speaker 1: the stage. Everything just felt so heavy. So I just
Speaker 1: sat there and the band director me out the side
Speaker 1: of his eye and he came back, and my parents
Speaker 1: came up. Guayaciana still on the stage. I was under
Speaker 1: a cold air duct and I was like, I can't
Speaker 1: get up. Somebody suggested that maybe she didn't have enough
Speaker 1: to eat, so they gave me some really sugary snacks.
Speaker 1: They brought me all these like little cream puffs and things,
Speaker 1: and I like inhaled them and it got worse. My
Speaker 1: parents took me to the er. This is not normal,
Speaker 1: even for you. We went to the er and they
Speaker 1: said I was having a hemiplegic migraine. Because I was
Speaker 1: the migraine kid. They did some stroke checks and things
Speaker 1: like that, but they're like, just go home and take
Speaker 1: your migraine meds.
Speaker 5: You're getting possible diagnosis but no solutions.
Speaker 1: Yeah, they had me on a ton of medication. It
Speaker 1: just wasn't really helping. Even at that point. The migraine
Speaker 1: meds used to have so many side effects. It wasn't great.
Speaker 5: Still battling to make it through the day without passing out,
Speaker 5: Sena went off to Saginaw Valley State University to study
Speaker 5: music education and saxophone performance. Though she was thriving in
Speaker 5: her degree, her symptoms were escalating and becoming more impossible
Speaker 5: to live with.
Speaker 1: I would wake up without vision almost every single day.
Speaker 1: There was also like fifty first dates. There was this
Speaker 1: huge memory loss that came with it. I would write
Speaker 1: down before I went to bed what I did that day,
Speaker 1: so the next morning when I woke up, that's the
Speaker 1: only reason I knew. I kind of came up with
Speaker 1: these systems that helped me navigate it all. I'm going
Speaker 1: to be like this the rest of my life, so
Speaker 1: I got to learn how to do this.
Speaker 5: I know that there was a very specific incident in
Speaker 5: which Triton saved your life.
Speaker 1: Yeah. So I was home for Christmas from college and
Speaker 1: I was taking a shower. My dog, Triton was my shadow.
Speaker 1: He was my show dog, so he went everywhere with me, Like,
Speaker 1: if I went in the bathroom, Triton would be there,
Speaker 1: if I took a shower, Triton would be there. And
Speaker 1: I passed out in the shower when I felt I
Speaker 1: hit my head and it closed the drain, so not good.
Speaker 1: When I came back too, Tryton had gotten partially into
Speaker 1: the shower and was holding my head up out of
Speaker 1: the water. Oh at the time, my primary care doctor,
Speaker 1: that's who I went and saw afterwards, she was like,
Speaker 1: you definitely had like a near death experience, so it
Speaker 1: was super scary. And at the appointment she was like,
Speaker 1: in order to keep doing things independently, I think you
Speaker 1: need to get a service dot. And I didn't really
Speaker 1: even know anything about service dogs at that point. And
Speaker 1: it was funny because at the same time, the girl
Speaker 1: I'd sat on, Hollie, also had developed chronic conditions of
Speaker 1: her own. Well I grew up with mine, she was
Speaker 1: starting to develop hers and was thinking about getting a
Speaker 1: service dog.
Speaker 2: We had both kind of been considering it on our
Speaker 2: own journeys.
Speaker 6: I had shared that, okay, I was going to.
Speaker 2: Be moving home and one of my archery students parents
Speaker 2: had a service dog, and I had jokingly said, well,
Speaker 2: if only there was a passing out dog, and she said, well,
Speaker 2: did you know that's what this dog does. I didn't
Speaker 2: realize that they had service dogs for that. I just
Speaker 2: thought they were searing eye dogs.
Speaker 1: My first service dog was Opie. He is a black Lab.
Speaker 1: He's just a ray of sunshine. You think of the
Speaker 1: lab that's just like a little dorky and super happy.
Speaker 1: That was Opie.
Speaker 5: Did he go back to college with you?
Speaker 1: Yeah. Opie luckily naturally alerted me passing out and actually
Speaker 1: like my vision loss. So he would go to jazz
Speaker 1: band and he was so funny. Professor would go down
Speaker 1: to line and tune and everyone and he didn't even
Speaker 1: have to say anything when people were out tuned because
Speaker 1: this dog put just like er moaning when people were
Speaker 1: out of tune. But I couldn't stop passing out, and
Speaker 1: I got to my saxophone lesson and passed out there.
Speaker 1: I remember, like, see there laying on the floor. Professor.
Speaker 1: She was like, you gotta call your mom. Mom, you
Speaker 1: gotta go to the er. This is not okay. And
Speaker 1: normally when I passed out like more than normal, it
Speaker 1: was because something else was going on.
Speaker 5: Sienna would continue to seek help from her doctors, desperately
Speaker 5: trying to get assistance that would address her increased vision loss,
Speaker 5: feelings of body heaviness, and an uptick in episodes in
Speaker 5: which she would lose consciousness.
Speaker 1: I had a really great primary care doctor all throughout college,
Speaker 1: and she just kept trying to figure out what was
Speaker 1: going on. I went to the er and they said
Speaker 1: that they thought maybe I had an infection or something
Speaker 1: and that's why I was passing out more. And they
Speaker 1: said that they thought my wisdom teeth were coming in.
Speaker 1: And by this point we knew like steroids normally helped
Speaker 1: me if I got into like a bad flare, So
Speaker 1: did the steroids. And then I woke up the next
Speaker 1: morning and I just had this like stabbing in my
Speaker 1: fingers and toes and it traveled all the way like
Speaker 1: up my arms and legs, and as it traveled I
Speaker 1: couldn't move anything anymore. It was so painful. My dad
Speaker 1: had to like pick me up carry me into the er.
Speaker 1: It was terrifying. I thought my wisdom teeth were coming in.
Speaker 1: I thought this was kind of a good thing. This
Speaker 1: is not a good thing, and they just set me
Speaker 1: home the next day. You've got a UTI. It's what
Speaker 1: it is. It's from the UTI. And it wasn't until
Speaker 1: like I think six months later, I got into the
Speaker 1: Cleveland clinic and saw Neural just there and he's like,
Speaker 1: you had gyam Beret. How are you still alive? I
Speaker 1: was like, I don't know. Probably because my primary care
Speaker 1: doctor she started giving me like saline infusions at her office.
Speaker 1: I was in physical therapy. I was just trying everything
Speaker 1: I could, and it was just it was terrifying.
Speaker 5: A quick aside. Guyon Beret syndrome is a rare autoimmune
Speaker 5: disorder in which the body's immune system mistakenly attacks the
Speaker 5: nerves outside the brain and spinal cord. So now you
Speaker 5: have another diagnosis. Are you satisfied now that gyon beret
Speaker 5: is the answer, that this is what's causing everything?
Speaker 1: No one was, No one was. None of my doctors were.
Speaker 1: There was just like all of these suggestions thrown out,
Speaker 1: and I was meeting all of these new doctors and
Speaker 1: all these specialists.
Speaker 5: Do you remember what kind of things are being thrown
Speaker 5: out at this point as possibilities?
Speaker 1: There was just she have a mitochondrial disorder. I was
Speaker 1: sent to endochronology. They realized my bloodsheed would go really
Speaker 1: really low, and it was doing it all the time,
Speaker 1: and it wouldn't go back up. What was going on there?
Speaker 1: I saw a geneticist, we did a full exo, and
Speaker 1: then a couple years later we did the pole genail
Speaker 1: and sequencing. Still have migraines, so that was always there.
Speaker 1: I was just like, I don't really care what I
Speaker 1: have as long as I feel better, That's all I
Speaker 1: cared about.
Speaker 3: Mysteries of meticin sometimes is a hardship to the patient
Speaker 3: and a heartache to the providers.
Speaker 5: That is doctor Betool Hottipoglu, an indocrinologist at University Hospitals.
Speaker 5: Into Chronology is the specialized area of medicine that focuses
Speaker 5: on the indocrine system. They look at glands that produce
Speaker 5: hormones responsible for regulating growth, metabolism, and reproduction. Doctor Huttipoglu
Speaker 5: is often looking for answers that are not yet visible.
Speaker 3: I explain some of these to my patients, telling them
Speaker 3: you do have a bulb inside you, like a bulb
Speaker 3: you put on the soil. You're asking me what this
Speaker 3: is gonna be. I don't know the answer, because what
Speaker 3: I can see, feel, smell is a bulb. I don't
Speaker 3: know what kind of flower that is. So the mystery
Speaker 3: sometimes needs more puzzle pieces together for a person to realize, Aha, that's.
Speaker 4: What you have. But unfortunately it can take a long time.
Speaker 5: When someone presents with an illness from an early age,
Speaker 5: is it easier on some levels to dismiss.
Speaker 4: I'm sure that is true.
Speaker 3: Because medicine so used to seeing younger people to be
Speaker 3: healthier and older we get, they perhaps accept more that
Speaker 3: illnesses will come. And we do have also some differences,
Speaker 3: as you know, especially that sometimes woman is treated at
Speaker 3: bit differently than the men. So we do see that
Speaker 3: dismissal a bit, unfortunately more in a younger and perhaps
Speaker 3: a female than you would have seen it in an
Speaker 3: older generation if the physicians or provider were seeing them.
Speaker 5: By seeing a senior year in college, she wasn't able
Speaker 5: to get through lessons without losing consciousness. Determined to finish
Speaker 5: her degree, she asked her mom to accompany her to
Speaker 5: classes so that she could be supervised in order to
Speaker 5: stay in school.
Speaker 1: My mom drove me an hour up to where I
Speaker 1: went to college, and I went to classes. What's my mom?
Speaker 1: I the things. I took, the tests, I took the exams,
Speaker 1: and then I was seeing my primary care doctor. We
Speaker 1: had this conversation, and you can't keep doing this. You're
Speaker 1: just getting worse. This could be detrimental. You might not
Speaker 1: make it. I just was like, Okay, I'll take a
Speaker 1: semester off, I'll take a medical leave. It's going to
Speaker 1: be fine, and then I'm going to be back. And
Speaker 1: my medical leaf never ended and I never went back.
Speaker 5: That must have been difficult, given how hard you fought.
Speaker 1: I think at the time, I didn't even know really
Speaker 1: who I was without being a saxophonist. That was my identity.
Speaker 1: I was Sienna and I played saxophone. But at the
Speaker 1: same time, my best friend Holly was moving home due
Speaker 1: to her own chronic conditions.
Speaker 5: Was there a time that you remember thinking I could
Speaker 5: lose my best friend.
Speaker 1: Yeah.
Speaker 6: Absolutely.
Speaker 2: There was a time where where doctors just gave her
Speaker 2: a timeline of well, we don't think you'll live past
Speaker 2: your twenty fifth birthday.
Speaker 5: Will be right back with Symptomatic a Medical Mystery Podcast.
Speaker 5: Now back to Symptomatic a Medical Mystery Podcast. At this
Speaker 5: point in her life, Siena has been helped by many
Speaker 5: doctors who have tried their best to understand the cause
Speaker 5: of Sienna's symptoms. She has also been dismissed and misdiagnosed
Speaker 5: more than once. By the time she meets doctor Hattipoglu,
Speaker 5: she's come to accept that the passing out, the vision loss,
Speaker 5: and the heaviness she feels in her body during episodes
Speaker 5: when she can't physically move are maybe never going to
Speaker 5: be understood. But from the moment they meet, Siena and
Speaker 5: doctor Hatipoglu have a beautiful connection. How would you describe
Speaker 5: Sienna to somebody who has not had the pleasure of
Speaker 5: crossing paswths with her?
Speaker 3: She is an amazing human being with determination and love
Speaker 3: of life that she hangs into and never quits. I
Speaker 3: just adore her personality and her way of gentle yet strong.
Speaker 4: That's who she is.
Speaker 1: And then she saw this poster for a lunch and
Speaker 1: learn with Big Pharma Company where they'll teach the doctors
Speaker 1: about the condition and their medication. She thought it sounded
Speaker 1: like me. I think from how I understand how I went,
Speaker 1: and she called me from the lunch and learn you
Speaker 1: have to come see me in Cleveland tomorrow.
Speaker 5: Now, you mentioned the analogy of a bulb in terms
Speaker 5: of a plant or a flower. But tell me what
Speaker 5: it was like sitting in that seminar sorts when the
Speaker 5: light bulb went off and you realized, oh my lord,
Speaker 5: this is what Sienna has.
Speaker 3: I always listen to Patience as if I'm reading this
Speaker 3: very interesting book. I would lose myself in their stories
Speaker 3: sometimes when I see them. And one day I was
Speaker 3: listening to actually someone talk to me and I'm looking
Speaker 3: at him, and he keeps telling me all this.
Speaker 4: Oh my god, that's what she has and he has.
Speaker 4: I could not wait to tell them.
Speaker 5: I said, oh my god, how didn't I think.
Speaker 4: About it before? It was an amazing wake up quote
Speaker 4: for me.
Speaker 5: You remember the phone call that when you called Sienna.
Speaker 3: It was fascinating to blurt. I think I know what
Speaker 3: Sean I could of one hundred percent right. I mean,
Speaker 3: this is medicine, it's rare. I think we can fix
Speaker 3: this better than at least.
Speaker 4: I could before. I didn't know, as you know, knowing
Speaker 4: and naming.
Speaker 5: It the name of the condition that had been taking away.
Speaker 5: Seeina's ability to move was discovered all because doctor Hottipoglu
Speaker 5: decided she was going to attend a lunch.
Speaker 1: We drove down to Cleveland. I'm pretty sure it was
Speaker 1: like the next day or sometime that week. It was
Speaker 1: a very quick turn around, and we were in her
Speaker 1: office like we did an exam. We like talked about
Speaker 1: all the factors that we had in my chart to
Speaker 1: support like a clinical diagnosis. She asked me some questions,
Speaker 1: like I'd always called my muscle weakness weakness, but she
Speaker 1: was like, do you think you could call it a heaviness?
Speaker 1: And I was like, wait, that's an even better word
Speaker 1: that describes exactly what I'm feeling. She asked me about
Speaker 1: if I noticed this heaviness more when it was cold,
Speaker 1: or if I had gone for milkshakes with hot or
Speaker 1: if all these things we would go through, like rest
Speaker 1: after exercise, was that one things got heavier. It's definitely
Speaker 1: those things. Maybe there is a pattern here. She told
Speaker 1: me that I had periodic process.
Speaker 3: Periodic paralysis is the potassium in her body shifts, she
Speaker 3: becomes low potassium. However, the low potassium is not actually real.
Speaker 3: There's a shift from one space to another, so it's
Speaker 3: not like you have a diarrhea. You lose the potassium
Speaker 3: and you have low potassium. This is suddenly from one
Speaker 3: cell to the other, from the blood to the cell.
Speaker 3: It shifts, so you have sudden loss of potassium so
Speaker 3: quick that your body gets paralyzed, because that's what happens
Speaker 3: when you have LOPU test.
Speaker 5: Do you remember what it felt like to confirm that hunch.
Speaker 3: Yes, I remember sending her to neurology to get tested
Speaker 3: for a periodic paralysis, and I.
Speaker 4: Was just fearful because I didn't know, and it was positive.
Speaker 4: It was positive.
Speaker 1: We had from the drug manufacturer the book, the little
Speaker 1: pamphlet about it, and we went through it together because
Speaker 1: she was like, I am not an expert in periodic paralysis,
Speaker 1: but we can learn about this together. There were some
Speaker 1: boss turns along the way, but we figured it out
Speaker 1: together and we always have. That's the thing about her
Speaker 1: is she'll always be in your back, like in your corner.
Speaker 1: Whenever I have a new symptom. I feel like she's
Speaker 1: always the first person who I tell.
Speaker 5: What are some of the telltale triggers of periodic paralysis.
Speaker 3: I absolutely not count myself as an expert, like I
Speaker 3: am an amazing expert in thyroid and diabetes.
Speaker 4: I am not in this field.
Speaker 3: But high carbohydrate meals for example, exercise, for example, stress classically,
Speaker 3: these people can just get paralyzed like that and faint.
Speaker 4: It's quite scary.
Speaker 3: Temperatures as well, the high temperature, yes, and cold temperature
Speaker 3: if you're in the cold as well.
Speaker 5: Yes, that makes so much sense. Sina remembers that during
Speaker 5: a periodic paralysis episode that took place while she was
Speaker 5: performing at her high school band, that she'd been sitting
Speaker 5: directly under a cold air vent and suddenly she couldn't
Speaker 5: move at all. And then the adults thought that she
Speaker 5: might have had low blood sugar or that she was hungry,
Speaker 5: so they gave her a bunch of sugary snack treats
Speaker 5: and it actually made things worse. Yes, it's all there
Speaker 5: in this story. She tells.
Speaker 3: So the fascinating part that some of the illnesses in
Speaker 3: my life that I diagnose this all honestly to.
Speaker 4: One, listen, really listen.
Speaker 3: Almost you get so infused by the patient's experience that
Speaker 3: there is no limit between you and them. At that moment,
Speaker 3: I lose myself almost when I'm listening to the story
Speaker 3: like a great movie, that you're not you anymore, you
Speaker 3: are in the movie. I have huge respect to science.
Speaker 3: I'm a professor, so I did a lot of research.
Speaker 3: I still do, which is very important. However, knowing the
Speaker 3: limitations of science scientific books, accept that medicine still continues
Speaker 3: to be an art, which means you need to be
Speaker 3: flexible in your mind where this could fit.
Speaker 5: I love that medicine is an art, so you have
Speaker 5: to be a creative thinker.
Speaker 3: Absolutely innovative, creative putting things together. Even if this is
Speaker 3: the first time.
Speaker 5: Holly remembers how life changing it was for Sienna to
Speaker 5: finally know exactly what could trigger an episode of paralysis
Speaker 5: in her.
Speaker 2: Previously, we had just been kind of navigating in the dark,
Speaker 2: and so knowing that there was the cold triggers or
Speaker 2: the different triggers that come with it, it just helps
Speaker 2: to give a sense of comfort in knowing that, Okay,
Speaker 2: we can plan for this or we can navigate this space.
Speaker 2: I've gotten to see Sienna learn relearn how to walk
Speaker 2: several times, and being able to see her work with
Speaker 2: her physical therapists after different periodic paralysis attacks to gain
Speaker 2: her strength back.
Speaker 5: Do you remember her reaction when she finally got her diagnosis.
Speaker 3: Huge relief, reassurance she wasn't losing it, It wasn't in
Speaker 3: her head because there was something we could do for it,
Speaker 3: We could treat it.
Speaker 5: So what are some of the ways you have worked
Speaker 5: with Sienna to manage her condition.
Speaker 3: We just started, you know, supplemented potassium, making sure she
Speaker 3: doesn't have pure sugars, avoiding the triggers, as well as
Speaker 3: we tried medications.
Speaker 1: I was started on treatment that week, and I think
Speaker 1: within my peria proalyssis diagnosis, I was super lucky because
Speaker 1: people will go to the er that puriac proalysis for years,
Speaker 1: time after time with these symptoms and these attacks and
Speaker 1: not get help for it. And my diagnosis always felt
Speaker 1: like it kind of fell into my lap because we
Speaker 1: weren't even looking for it.
Speaker 5: As is true with so many things, once we see
Speaker 5: where one piece of the puzzle belongs, the other pieces
Speaker 5: start to make sense. A few years after she was
Speaker 5: diagnosed with periodic paralysis, Siena was also diagnosed with ROHOD,
Speaker 5: which stands for rapid onset obesity with hypothalmic dysfunction, hypoventilation,
Speaker 5: and autonomic dysregulation. Rohod is a rare, life threatening disorder
Speaker 5: that creates breathing problems known as hypoventilation. The condition can
Speaker 5: often lead to death. A few years after Sena was
Speaker 5: diagnosed by you with periodic paralysis, she received an additional diagnosis.
Speaker 5: Did she share that with you? And were you surprised?
Speaker 3: Yes, I was surprised. Periodic paralysis was just a piece
Speaker 3: of what was happening in her entire system. And that
Speaker 3: is usually the case when you are dealing with this
Speaker 3: rare illnesses that starts happening at a very young age,
Speaker 3: and at least you know that other people are helping
Speaker 3: you to make this person have a much better and
Speaker 3: high quality life.
Speaker 5: All those years that Sienna had been passing out and
Speaker 5: losing her vision can be attributed to rohod. So just
Speaker 5: explain how you explain rohad to people.
Speaker 1: So when I explain it to people, we start off
Speaker 1: with my brain not telling me to breathe. My lungs
Speaker 1: work perfectly fine, my brain just doesn't tell them to
Speaker 1: do the breathing thing.
Speaker 3: When you take a deep breath, so you know how
Speaker 3: your chest expands and then you feel good. Some of
Speaker 3: these patients, the DAP fram cannot necessarily expand they have
Speaker 3: to remember to take a deep breath otherwise they don't breathe.
Speaker 3: So by putting a pacemaker, like a heart pacemaker, it
Speaker 3: helps you to breathe better.
Speaker 1: Then we'll talk about like my hypothemis. My hypothemis doesn't
Speaker 1: make all the different levels and hormones and things that
Speaker 1: it should, and so I take steroids and different things
Speaker 1: to make up for that, and a slew of other
Speaker 1: treatments that help the bigger picture for it. And then
Speaker 1: I have autonomic dysfunction or dysregulation from it. And that
Speaker 1: can be anything from passing out to my body not
Speaker 1: controlling my temperature or anything your body does autonomically. Mine
Speaker 1: just doesn't like to do.
Speaker 5: In a weird way. Forcing yourself to breathe, for saxophone
Speaker 5: probably helped that from happening earlier.
Speaker 1: Yeah, I spent so much time every day playing saxophone.
Speaker 1: Some of my doctors are like that probably kept you alive.
Speaker 1: I should have been feeling worse. I'm exerting all this energy,
Speaker 1: and when I stopped playing is when I would start
Speaker 1: passing out.
Speaker 5: I'm sure now that you have answers, it's much easier
Speaker 5: for you to navigate in real time as you feel
Speaker 5: an episode coming on, and also the aftermath of it.
Speaker 1: Yeah, I know what to do. I know what triggers
Speaker 1: to avoid. My service dogs also they consents an attack
Speaker 1: before I have it, about twenty thirty minutes before, which
Speaker 1: is extremely helpful. Having the diagnosis and having that support
Speaker 1: has been life changing.
Speaker 5: Now with the right diagnosis in hand, Sienna has built
Speaker 5: a community and beaten the off She would not die
Speaker 5: before twenty five, far from it. Now thirty one years old,
Speaker 5: Sienna is a testament to living beyond expectations. Holly told me,
Speaker 5: they didn't think you were going to make it to
Speaker 5: the age of twenty five.
Speaker 1: When I went to the Mayo Clinic, I was on
Speaker 1: palliative care before I got my diaphragm pacemaker, and we
Speaker 1: were just doing things to try to keep me alive.
Speaker 1: And when it came down to getting the pacemaker, no
Speaker 1: one knew if I was even going to live through
Speaker 1: the surgery. No one knew if I was going to
Speaker 1: have a twenty fifth birthday. The pacemaker was our hail Mary.
Speaker 1: It was our last try. So after that, all my
Speaker 1: birthdays had become bonus birthdays, which makes them even more magical.
Speaker 2: So twenty five came along, and then twenty six came along.
Speaker 2: And one thing about Sienna that I love is try
Speaker 2: sticking her in a box or try telling her what
Speaker 2: she can't do, give her a challenge, and then watch
Speaker 2: her sore.
Speaker 5: Sienna has time and time again endured challenges at the
Speaker 5: hand of her conditions, and on the eve of her
Speaker 5: thirtieth birthday, Sienna started using a wheelchair almost full time.
Speaker 2: It's a dynamic disability, being able to use the arm
Speaker 2: crutches and then some days use the wheelchair and some days.
Speaker 6: She's be walking.
Speaker 2: But it's just been exciting to see her learn how
Speaker 2: to navigate the world and navigate it so well regardless
Speaker 2: of what mobility aide she has. She walked down the
Speaker 2: aisle at my wedding and we were all crying, and
Speaker 2: it was just really neat.
Speaker 1: I did special physical therapy and works even harder.
Speaker 3: You know.
Speaker 1: She wanted to get married on this mountain, and I
Speaker 1: was like, yeah, let's go. I walked down the aisle
Speaker 1: and I stood up there the whole time, and thankfully
Speaker 1: it was a short ceremony. It was beautiful.
Speaker 6: We can get back to living life, to the fullest.
Speaker 2: She's not letting any timelines, any diagnoses determine who she
Speaker 2: is and who she should be.
Speaker 5: What is the message that you want people to take
Speaker 5: away from your story?
Speaker 1: Having the ability to share my story with all these
Speaker 1: people create change, Claiming a spot in the world for
Speaker 1: people with disabilities that's been hidden for so long, and
Speaker 1: finding each other. I think that's such a special part
Speaker 1: of it. There's so much joy in life every single day,
Speaker 1: no matter what you have or what you're living with.
Speaker 1: Just stopping to smell the roses or dance in the rain,
Speaker 1: and just them knowing that it's not about how much
Speaker 1: time you have in life, but how much life you
Speaker 1: put in the time you have. I'm Sanadetrie and it
Speaker 1: took me twenty six years to find out I have
Speaker 1: clinical periodic paralysis.
Speaker 5: You can learn more about periodic paralysis at periodic paralysis
Speaker 5: dot org. You can follow Sienna at chronically Persevering on Instagram, TikTok, Facebook,
Speaker 5: and YouTube. Coming up on the next episode of Symptomatic,
Speaker 5: rock star Casey McPherson and his family were shocked to
Speaker 5: the core when his daughter Rose was diagnosed with a
Speaker 5: rare genetic mutation that has no known treatment.
Speaker 7: Finally calling my name, going into the small little room,
Speaker 7: and the pediatric neurologist walking in with very little empathy
Speaker 7: and saying, Casey, your daughter has a rare genetic disease,
Speaker 7: and those words ringing in my ears. There's really nothing
Speaker 7: we can do, Casey, you know, other than make her
Speaker 7: comfortable or role that was a pediatric neurologists, Like, where
Speaker 7: else am I going to go?
Speaker 5: Faced with the possibility of losing his daughter? The frontman
Speaker 5: of Flying Colors dropped everything to devote his life to
Speaker 5: trying to find a cure before time runs out. As always,
Speaker 5: we would love to hear from you. Send us your
Speaker 5: thoughts on this episode, or share a medical mystery of
Speaker 5: your own at Symptomatic at iHeartMedia dot com, and please
Speaker 5: rate and review Symptomatic wherever you get your podcasts. We'll
Speaker 5: see you next time and until then, be well. Symptomatic
Speaker 5: a medical mystery podcast is a production of iHeartMedia's Ruby Studio.
Speaker 5: Our show is hosted by me Lauren Bright Pacheco. Our
Speaker 5: executive producers are James Foster, Matt Ramano, and myself. Our
Speaker 5: supervising producers are Ryan Ovadia Haley, Aliah Erickson, and Daniel Ainsworth.
Speaker 5: This episode was written by Haley Aliah Ericsson and edited
Speaker 5: by Daniel Ainsworth.