Case #29: Cienna

Summary

Podcast Summary: Symptomatic – Case #29: Cienna

Podcast: Symptomatic: A Medical Mystery Podcast
Host: Lauren Bright Pacheco
Episode: Case #29: Cienna
Date: November 25, 2025

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Episode Overview

This episode of Symptomatic follows the journey of Sienna Dietrich, a vivacious and resilient 31-year-old who spent much of her life battling debilitating, mysterious medical symptoms. From childhood migraines and fainting spells to episodes of paralysis and progressing illness, Sienna's story is one of persistence and hope in the face of repeated medical misdiagnoses. Ultimately, the episode uncovers how a determined doctor, Dr. Betul Haripaglu, puts the puzzle pieces together for Sienna, leading to a diagnosis of periodic paralysis—and, later, the rare and life-threatening syndrome known as ROHHAD.

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Key Discussion Points and Insights

Sienna’s Early Life and First Symptoms

• Chronic illness from infancy: Sienna recounts never remembering a time without migraines. As a baby, her mother noticed alarming symptoms like Sienna turning purple while sleeping, but these were dismissed by doctors.
  • "I don't remember a time when I didn't have migraines. I just thought everybody had terrible headaches almost every single day." (Sienna, 02:49)
• Assumed normalcy: She describes believing her symptoms—fainting on standing, heavy legs, impaired vision—were experiences everyone had.
• Dismissal by healthcare: Doctors repeatedly attributed her symptoms to normal childhood development or stress.

Navigating Adolescence with a Mystery Illness

• Escalating symptoms in high school: Sienna's migraines intensified, she experienced vision loss, and frequently fainted—especially during physically demanding activities like marching band practice.
  • Memorable incident: She lost her vision, navigated blindly back to the band room, and accidentally sat on Holly, who later became her closest friend.
    • "I lost my vision. It was all gone, and I did not know what was going on. Nothing like that had ever happened to me before in my life." (Sienna, 05:41)
• First misdiagnoses: Initially labeled as “complex migraines,” her diagnosis evolved to “epilepsy,” but treatments failed to resolve the symptoms.

College Years and Life-Saving Interventions

• Symptoms worsen: As a university music major, Sienna endured memory loss, daily episodes of vision loss, and frequent fainting.
  • She developed coping mechanisms—keeping a daily log to counter memory loss.
• Near-death experience: Her dog Triton saved her during a fainting episode in the shower, prompting a doctor to recommend a service dog.
• Dependence on others and emotional toll: Sienna’s health forced her mother to accompany her to college, and she required escorts due to liability concerns from frequent fainting.

Continuing the Diagnostic Odyssey

• Hospitalizations & further misdiagnoses: Doctors offered temporary explanations—from infections to a severe case of Guillain-Barré syndrome—before ultimately sending her home. It was only months later that a neurologist confirmed she had survived Guillain-Barré.
  • "I was in physical therapy. I was just trying everything I could, and it was just. It was terrifying." (Sienna, 15:50)
• Despair over lack of answers: Multiple specialists explored possibilities (mitochondrial disorders, genetic testing), but Sienna remained undiagnosed.

Breakthrough: The Power of Listening and Connection

• Enter Dr. Betul Haripaglu: Endocrinologist Dr. Haripoglu describes her approach as immersive listening, likening patient stories to a mystery novel. She acknowledges the gender and age bias in medical dismissals.
  • "Mysteries of medicine sometimes is a hardship to the patient and a heartache to the providers." (Dr. Haripaglu, 18:25)
• Serendipitous discovery: Dr. Haripaglu attends a pharmaceutical seminar, hears about periodic paralysis, and instantly connects the symptoms to Sienna.
  • "Oh my god, that's what she has... How didn't I think about it before?" (Dr. Haripaglu, 25:05)

The Breakthrough Diagnosis: Periodic Paralysis

• Symptom fit: Sienna’s unique pattern—muscle heaviness, symptom worsening with high carbs, temperature changes, and after exercise—points to periodic paralysis.
  • "She told me that I had periodic paralysis." (Sienna, 27:19)
• Biochemical mechanism: Dr. Haripaglu explains potassium shifts in the body cause sudden, temporary paralysis.
• Validation and relief: Sienna describes learning alongside her doctor, who remained steadfastly supportive as they navigated her rare diagnosis together.
  • "She'll always be in your back, like, in your corner. Whenever I have a new symptom, I feel like she's always the first person who I tell." (Sienna, 28:24)
• Management strategies: Sienna began potassium supplementation, dietary changes, and trigger avoidance. She notes her relative luck in finally receiving a diagnosis many live without for years.

ROHHAD: A Further Layer to the Mystery

• Additional rare diagnosis: Years after periodic paralysis, Sienna is diagnosed with ROHHAD—rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation—a potentially fatal disorder impacting breathing and body regulation.
  • "My brain just doesn't tell them to do the breathing thing." (Sienna, 34:46)
  • "All those years that Sienna had been passing out and losing her vision can be attributed to ROHHAD." (Lauren, 34:34)
• Life-saving interventions: Sienna required a diaphragm pacemaker and entered palliative care before her 25th birthday, defying the grim prognosis with each “bonus birthday.”

Living Fully: Advocacy, Community, and Joy

• Advocacy and joy: Today, Sienna reflects on the importance of representation for people with disabilities and cherishing every moment.
  • "It's not about how much time you have in life, but how much life you put in the time you have." (Sienna, 39:17)
• Support and friendship: Holly, her best friend, celebrates Sienna’s resilience and refusal to be defined by timelines or diagnoses.

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Notable Quotes and Memorable Moments

• On living with undiagnosed illness:
  • "I didn't have these long term dreams or goals because there was no long term. I was just fighting to survive every day." (Sienna, 00:33)
• On dismissal in healthcare:
  • "They just kind of like write it all off. Eventually it was just like, what's the point?" (Sienna, 03:57)
• On doctor-patient partnership:
  • "We can learn about this together. There were some bumps and turns along the way, but we figured it out together, and we always have." (Sienna, 28:24)
• On music and survival:
  • "Playing saxophone probably kept you alive. When I stop playing is when I would start passing out." (Lauren & Sienna, 36:06)
• On the uniqueness of Sienna’s resilience:
  • "Try sticking her in a box or try telling her what she can't do. Give her a challenge, and then watch her soar." (Holly, 37:44)
• On what matters most:
  • "There’s so much joy in life every single day, no matter what you have or what you’re living with... it’s not about how much time you have in life, but how much life you put in the time you have." (Sienna, 39:17)

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Important Timestamps

• 00:06: Sienna’s childhood health issues emerge
• 05:41: Major vision loss episode at band practice
• 07:56: Meeting Holly—bond over chronic illness
• 08:37: Series of medical misdiagnoses begin
• 15:50: Guillain-Barré syndrome and impact on daily life
• 17:38: Lack of satisfaction with new diagnoses
• 24:00: Dr. Haripaglu: first impressions of Sienna
• 25:05: Epiphany moment—connecting Sienna’s symptoms to periodic paralysis
• 27:19: Sienna receives her diagnosis
• 33:08: Years later, Sienna diagnosed with ROHHAD
• 36:06: Saxophone and survival
• 37:17: Sienna reflects on outliving her prognosis
• 39:17: Sienna’s message of positivity and advocacy

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Conclusion

Sienna Dietrich’s story on Symptomatic is a powerful narrative about perseverance, the necessity of compassionate, creative doctors, and the value of community in the face of chronic illness. Through periods of confusion, despair, and physical decline, Sienna rewrote the narrative around her diagnoses, ultimately focusing on advocacy, living purposefully, and providing hope to others with invisible disabilities.

Resources Shared:

• Periodic Paralysis: periodicparalysis.org
• Sienna’s socials: @chronicallypersevering (Instagram, TikTok, Facebook, YouTube)

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For further detail, follow the guide above to specific timestamps and notable quotes.

Transcript

[Lauren Bright Pacheco]

Ruby.

[Sienna Dietrich]

When I was walking back and I lost my vision, it was all gone. I did not know what was going on. Nothing like that had ever happened to me before in my life.

[Holly]

Doctors just gave her a timeline of we don't think you'll live past your 25th birthday.

[Dr. Betul Haripaglu]

The Life becomes so restrictive that the fear that dominates now becomes unbearable.

[Sienna Dietrich]

I didn't have these long term dreams or goals because there was no long term. I was just fighting to survive every day.

[Lauren Bright Pacheco]

How terrifying would it be to fight an unknown enemy, one you didn't recognize and didn't see coming? What if that enemy was coming from within? A disease that even doctors couldn't identify? Nearly half of Americans suffer from some chronic illness and many struggle for an accurate diagnosis. These are their stories. I'm Lauren Bright Pacheco and this is Symptomatic.

[Sienna Dietrich]

Hi, I'm Sienna. If you haven't met me yet, I would say that I am a 31 year old disabled girl in the world, just sharing my real life so that hopefully people like me see themselves represented and feel a little less alone.

[Lauren Bright Pacheco]

Sienna Dietrich is sunshine in a bottle. She moves through life with contagious enthusiasm and undeniable warmth. She is vivacious, creative, and talented to boot, with a tenacity for sque squeezing the juice out of every lemon. She has a large community of followers on social media where she shares her incredible fashion and beautiful energy with her audience. So aside from being a social media star slash influencer slash advocate, what are your loves? What are your passions?

[Sienna Dietrich]

I love surfing and I've always been obsessed with dogs. Like I was the little girl at the library who checked out all the dog books and rotated between all of them. I love the color blue. I love cooking, I love reading, I love spending time outside. And I also play saxophone.

[Lauren Bright Pacheco]

Though Sienna's true love of life is clearly present, she has faced many challenges starting from a very young age. Tell me what you remember in terms of your earliest memory that something might not have been going well with your health.

[Sienna Dietrich]

I think my earliest memory is I don't remember a time when I didn't have migraines. Like, I just thought everybody had terrible headaches almost every single day. I know that my mom will tell me that I'd be crying as a baby in the middle of the night or she'd come to check on me and when I was sleeping I'd be purple and she would just be like, why is my baby purple? That doesn't seem normal. But they kind of wrote her off as a worried first time mom, what.

[Lauren Bright Pacheco]

Would be the next major symptom that manifested itself in your childhood?

[Sienna Dietrich]

I remember anytime I would stand up, everything would go black. But I thought that was normal. And then I just started to think all these other things that I would notice were also normal. I would play soccer and my legs would get heavy. Like I was walking through cement, or I had cement boots on. And I'd see the other kids sitting on the sideline, and I was like, oh, that's why they went and sat down too. Their legs must have been really heavy. So I just assumed everybody else had these experiences.

[Lauren Bright Pacheco]

When was the first time that you remember your parents keying in on something, not being normal and taking you to the doctor?

[Sienna Dietrich]

My parents were really big about taking me into the pediatrician. My mom knew there was something going on, like in my parents head, I was already the sick kid. So they would take me to the doctors and the doctor would be like, okay, that's fine. Maybe she's gonna get her period soon. I'm in like third grade. That was absolutely not it. They would just turn it into these other things and just kind of like write it all off. Eventually it was just like, what's the point?

[Lauren Bright Pacheco]

Do you think it's possible that your effervescent personality may have in some way worked against you in those interactions with doctors?

[Sienna Dietrich]

Oh, definitely. It definitely did. I remember as I got older and we'd go to see, like, specialists, my mom being like, so today we're gonna be a little more chill. We're gonna look a little more sick. And I was like, what? Come again? Maybe like, let them see how sick you actually are. Don't tell them about your best days. Tell them about your worst day. Your worst day needs to be what they think every day is like.

[Lauren Bright Pacheco]

Although Sienna spent her childhood in and out of doctor's offices, being sick was never something that she felt defined her. She had an active social life, she played sports, she was a good student, and she mastered the art of musical performance. But as she got older, new symptoms started to pop up. So things are progressing. The migraines, the lightheadedness, the heaviness of the lower body, and even things going black when you stood up quickly. And then there was the fateful day of marching band practice. What happened?

[Sienna Dietrich]

I think that was probably one of the scariest days of my life. It was before my first day of ninth grade. I was going into high school. I was very excited, but nervous. But I was so excited because it was our first day of band practice before going away to Band camp, and I loved playing saxophone. We went out to practice on the field. It was perfect. I learned about, like, marching for the first time. I was like, this is so cool. This is so fun. And then we came inside, and I had to go to the bathroom. So I was like, cool, put my saxophone down, walked over to the bathroom, and I was walking back, and I lost my vision. It was all gone, and I did not know what was going on. Nothing like that had ever happened to me before in my life. It was tunneled. Everything got darker, and then it started tunneling out while everything was darker. I had to figure it out. I heard the noise. I'd never been in this building before, so I kind of, like, followed along the wall, like, touching it. I remember, like, following it back to where I knew the band room was. I heard my lesson teacher's voice, so I followed that. And there was, like, a little office in the band room, and I heard her in there. Apparently, I was just as pale as could be. My lips were, like, purple. My fingers, hands were, like, purple. She took one look at me and was like, you need to sit down now. So I sat down right when she told me to sit down. And I actually sat on someone.

[Holly]

She just happened to sit on me.

[Lauren Bright Pacheco]

That is Holly.

[Sienna Dietrich]

I'd never met her before, but today we're best friends.

[Holly]

She just sat in the first spot that she thought was available or remembering where there was a couch.

[Lauren Bright Pacheco]

These two have been able to connect on a level more than most because Holly has also struggled with her own chronic health conditions.

[Holly]

I felt invisible for a second, and then we realized, oh, no. We really didn't understand the full magnitude of it, that she couldn't see me. We knew she had some health scares and health mysteries going on. So sitting on me, it was just like, I gave her a nice, big hug and told her to stay there.

[Sienna Dietrich]

Oh, yeah. That's how I met Holly and lost my vision all on the same day.

[Lauren Bright Pacheco]

Did you go to the doctor after that incident?

[Sienna Dietrich]

Actually, I called my dad, and I think we just went home.

[Lauren Bright Pacheco]

And then after that day, what happened?

[Sienna Dietrich]

As high school went on, I got really sick. Everything just started progressing, which was not great timing, because that's when you're trying out for music schools for college as your junior year. A lot of doctors were just like, oh, it's stress. You got big math tests coming up. You got a big audition. I was like, I'm excited for this audition. I don't know what you're talking about.

[Lauren Bright Pacheco]

No formal diagnosis is given to you.

[Sienna Dietrich]

So in the beginning, they were just like, oh, it's all complex migraines. That's literally everything you're experiencing is complex migraines. And then they added epilepsy. Here's a bunch of different epileptic drugs. Let's try them all out. So we did. And that was somewhere between my junior and senior year of high school.

[Lauren Bright Pacheco]

The reason why you had escorts in high school was because of the epilepsy.

[Sienna Dietrich]

I was passing out multiple times a day, a lot, which is why I had to have people in the hallways with me in high school. They actually told my parents it was a liability issue at one point. And they're like, I couldn't be alone even if I had to go to the bathroom. Hey, so whoever, do you want to go to the bathroom with me? I gotta go. It made me feel terrible as a high schooler. Like, not only did I know literally no one else like me, but then you always had to ask other people to help you. That wasn't a part of me that I was ashamed of either. Like, it was just one part of me. And it did impact my whole life, but it was still just one part of me. Like how my eyes are brown somehow.

[Lauren Bright Pacheco]

Despite debilitating migraines, episodes of heavy legs and arms, loss of vision and fainting, Sienna had become a star saxophone player and was made first chair in her high school band. Take me to your senior year saxophone concert solo.

[Sienna Dietrich]

I had been super excited for it. I had been dreaming of this moment for years. I'd done tons of competitions. I loved performing. I'd never had stage frights, so that was not part of it. And I got to the concert and everything was fine. Then playing the solo, it started all falling apart. I played my solo. I was smiling afterwards and shaking the director's hand, getting these flowers, the whole nine yards. And it became hard to smile. I couldn't do it. So I went back to my seat, and it just became harder to move. Everybody else left the stage, and I couldn't get up to leave the stage. Everything just felt so heavy. So I just sat there, and the band director caught me off the side of his eye, and he came back, and my parents came up. Why is Sienna still on the stage? I was under a cold air duck, and I was like, I can't get up. Somebody suggested maybe she didn't have enough to eat. So they gave me some really sugary snacks. They brought me all these, like, little cream puffs and things, and I, like, inhaled them. And it got worse. My parents took Me to the er. This is not normal, even for you. We went to the ER and they said I was having a hemiplegic migraine because I was the migraine kid. They did some stroke checks and things like that, but they're like, just go home and take your migraine meds.

[Lauren Bright Pacheco]

You're getting possible diagnosis but no solutions.

[Sienna Dietrich]

Yeah, they had me on a ton of medication. It just wasn't really helping. Even at that point, the migraine meds used to have so many side effects. It wasn't great.

[Lauren Bright Pacheco]

Still battling to make it through the day without passing out, Siena went off to Saginaw Valley State University to study music education and saxophone performance. Though she was thriving in her degree, her symptoms were escalating and becoming more impossible to live with.

[Sienna Dietrich]

I'd wake up without vision almost every single day. There was also, like 50 first dates. There was this huge memory loss that came with it. I would write down before I went to bed what I did that day. So the next morning when I woke up, that's the only reason I knew. I kind of came up with these systems that helped me navigate it all. I'm gonna be like this the rest of my life, so I gotta learn how to do this.

[Lauren Bright Pacheco]

I know that there was a very specific incident in which Triton saved your life.

[Sienna Dietrich]

Yeah. So I was home for Christmas from college, and I was taking a shower. My dog Triton was my shadow. He was my show dog. So he went everywhere with me. Like, if I went in the bathroom, Triton would be there. If I took a shower, Triton would be there. And I passed out in the shower. When I fell, I hit my head and it closed the drain. So not good. When I came back to Triton, had gotten partially into the shower and was holding my head up out of the water. At the time. My primary care doctor, that's who I went and saw afterwards. She was like, you definitely had, like, a near death experience. So it was super scary. And at that appointment, she was like, in order to keep doing things independently, I think you need to get a service document. And I didn't really even know anything about service dogs at that point. And it was funny because at the same time, the girl I sat on, Holly, also had developed chronic conditions of her own. While I grew up with mine, she was starting to develop hers and was thinking about getting a service dog.

[Holly]

We had both kind of been considering it on our own journeys. I had shared that. Okay, I was gonna be moving home, and one of my archery students parents had a service dog and I had jokingly said, well, if only there was a passing out dog. And she said, well, did you know that's what this dog does? I didn't realize that they had service dogs for that. I just thought they were searing eye dogs.

[Sienna Dietrich]

My first service dog was Opie. He is a black lab. He's just a ray of sunshine. You think of the lab that's just like a little dorky and super happy. That was Opie.

[Lauren Bright Pacheco]

Did he go back to college with you?

[Sienna Dietrich]

Yeah. Opie luckily, naturally alerted me. Passing out and actually, like, my vision loss. So he would go to jazz band. And he was so funny. My professor would go down the line and tune at everyone. And he didn't even have to say anything when people were out of tune because this dog would just be like. And start moaning when people were out of tune. But I couldn't stop passing out. And I got to my saxophone lesson and passed out there. I remember, like, sitting there laying on the floor, professor, she was like, you gotta call your mom. You gotta go to the er. This is not okay. And normally when I passed out, like, more than normal, it was because something else was going on.

[Lauren Bright Pacheco]

Sienna would continue to seek help from her doctors, desperately trying to get assistance that would address her increased vision loss, feelings of body heaviness, and an uptick in episodes in which she would lose consciousness.

[Sienna Dietrich]

I had a really great primary care doctor all throughout college, and she just kept trying to figure out what was going on. I went to the ER and they said that they thought maybe I had an infection or something and that's why I was passing out more. And they said that they thought my wisdom teeth were coming in. And by this point, we knew, like, steroids normally helped me. If I got into, like, a bad flare, so did the steroids. And then I woke up the next morning and I just had this, like, stabbing in my fingers and toes. And it traveled all the way, like, up my arms and legs. And as it traveled, I couldn't move anything anymore. It was so painful. My dad had to, like, pick me up, carry me into the er. It was terrifying. I thought my wisdom teeth were coming in. I thought this was kind of a good thing. This is not a good thing. And they just sent me home the next day. You've got a uti? It's what it is. It's from the uti. And it wasn't until, like, I think six months later, I got into the Cleveland Clinic and saw a neurologist there, and he was like, you had Guillain Barre. How Are you still alive? And I was like, I don't know. Probably because my primary care doctor, she started giving me, like, saline infusions at her office. I was in physical therapy. I was just trying everything I could, and it was just. It was terrifying.

[Lauren Bright Pacheco]

A quick aside. Guillain Barre syndrome is a rare autoimmune disorder in which the body's immune system mistakenly attacks the nerves outside the brain and spinal cord. So now you have another diagnosis. Are you satisfied now that Guillain Barre is the answer, that this is what's causing everything?

[Sienna Dietrich]

No one was. No one was. None of my doctors were. There was just like all of these suggestions thrown out. And I was meeting all these new doctors and all these specialists.

[Lauren Bright Pacheco]

Do you remember what kind of things are being thrown out at this point as possibilities?

[Sienna Dietrich]

There was, does she have a mitochondrial disorder? I was sent to endocrinology. They realized my blood sugar would go really, really low, and it was doing it all the time, and it wouldn't go back up. What was going on there? I saw a geneticist. We did the full exome, and then a couple years later, we did whole genome sequencing. Still had migraines. So that was always there. I was just like, I don't really care what I have as long as I feel better. That's all I cared about.

[Dr. Betul Haripaglu]

Mysteries of medicine sometimes is a hardship to the patient and a heartache to the providers.

[Lauren Bright Pacheco]

That is Dr. Betul Haripaglu, an endocrinologist at University Hospitals. Endocrinology is the specialized area of medicine that focuses on the endocrine system. They look at glands that produce hormones responsible for regulating growth, metabolism and reproduction. Dr. Haripoglu is often looking for answers that are not yet visible.

[Dr. Betul Haripaglu]

I explain some of these to my patients, telling them, you do have a bulb inside you, like a bulb you put on the soil. You're asking me, what is this going to be? I don't know the answer because what I can see, feel, smell, is a bulb. I don't know what kind of flower that is. So the mystery sometimes needs more puzzle pieces together for a person to realize, aha, that's what you have. But unfortunately, it can take a long.

[Lauren Bright Pacheco]

Time when someone presents with an illness from an early age. Is it that easier on some levels to dismiss?

[Dr. Betul Haripaglu]

I'm sure that is true because medicine so used to seeing younger people to be healthier and older we get, they perhaps accept more that illnesses will come. And we do have also some differences, as you know, especially that sometimes women is treated a little bit differently than the man. So we do see that dismissal a bit, unfortunately, more in a younger and perhaps a female than you would have seen it in an older generation if the physicians or providers were seeing them.

[Lauren Bright Pacheco]

By Sienna's senior year in college, she was unable to get through lessons without losing consciousness. Determined to finish her degree, she asked her mom to accompany her to classes so that she could be supervised in order to stay in school.

[Sienna Dietrich]

My mom drove me an hour up to where I went to college, and I went to classes with my mom. I did the things, I took the tests, I took the exams. And then I was seeing my primary care doctor. We had this conversation, and you can't keep doing this. You're just getting worse. This could be detrimental, like, you might not make it. I just was like, okay, I'll take a semester off. I'll take a medical leave. It's gonna be fine, and then I'm gonna be back. And my medical leave never ended, and I never went back.

[Lauren Bright Pacheco]

That must have been difficult given how hard you fought.

[Sienna Dietrich]

I think at the time, I didn't even know really who I was without being a saxophonist. That was my identity. I was Sienna and I played saxophone. But at the same time, my best friend Holly was moving home due to, like, her own chronic conditions.

[Lauren Bright Pacheco]

Was there a time that you remember thinking I could lose my best friend?

[Holly]

Yeah, absolutely. There was a time where doctors just gave her a timeline of, well, we don't think you'll have passed your 25th birthday.

[Lauren Bright Pacheco]

We'll be right back with Symptomatic A Medical Mystery podcast.

[Sienna Dietrich]

Hey, I'm Frank, and I have hidradenitis suppurativa. Hs. Before starting Cosentyx, I was so uncomfortable with my symptoms, like not being able to sleep on white sheets or wear white clothes. Now I can appreciate the little things.

[Frank]

Cosentic Secukinumab is prescribed for adults with moderate to severe hidradenitis suprativa. Don't use if allergic to Cosentyx. Get checked for TB before starting. Increased risk of infections and lowered ability to fight them may occur like TB or other serious bacterial, fungal, or viral infections. Some were fatal. Tell your doctor if you have an infection or symptoms like fevers, sweats, chills, muscle aches or cough, had a vaccine or planned to. Or if IBD symptoms develop or worsen, serious allergic reactions and severe eczema, like skin reactions may occur. Learn more at 1-844-cosentyx or cosentyx.com you're stronger than HS.

[Sienna Dietrich]

Ask your dermatologist about Cosentyx.

[Lauren Bright Pacheco]

Now back to Symptomatic, a medical mystery podcast. At this point in her life, Sienna has been helped by many doctors who have tried their best to understand the cause of Sienna's symptoms. She has also been dismissed and misdiagnosed more than once. By the time she meets Dr. Hadipoglu, she's come to accept that the passing out, the vision loss, and the heaviness she feels in her body during episodes when she can't physically move are maybe never going to be understood. But from the moment they meet, Siena and Dr. Hadipoglu have a beautiful connection. How would you describe Siena to somebody who has not had the pleasure of crossing paths with her?

[Dr. Betul Haripaglu]

She is an amazing human being with determination and love of life that she hangs into and never quits. I just adore her personality and her way of gentle yet strong. That's who she is.

[Sienna Dietrich]

And then she saw this poster for a like lunch and learn with Big Pharma company where they'll teach the doctors about the condition and their medication. She thought it sounded like me, I think from how I understand how it went. And she called me from the lunch alone. You have to come see me in Cleveland tomorrow.

[Lauren Bright Pacheco]

Now, you mentioned the analogy of a bulb in terms of a plant or a flower, but tell me what it was like sitting in that seminar of sorts when the light bulb went off and you realized, oh, my Lord, this is what Sienna has.

[Dr. Betul Haripaglu]

I always listen to patients as if I'm reading this very interesting book. I would lose myself in their stories sometimes when I see them. And one day I was listening to actually someone talk to me, and I'm looking at him and he keeps telling me all these symptoms. Oh, my God. That's what she has and he has. I could not, not wait to tell them. I said, oh, my God, how didn't I think about it before? It was an amazing wake up call for me.

[Lauren Bright Pacheco]

You remember the phone call that when.

[Dr. Betul Haripaglu]

You called Sienna, it was fascinating to blurt, I think I know what's wrong. I couldn't be 100% sure, right? I mean, this is medicine. It's rare. I think we can fix this better than at least I could before. I didn't know, as you know, knowing and naming it, the name of the.

[Lauren Bright Pacheco]

Condition that had been taking away Sienna's ability to move was discovered all because Dr. Hadipoglu decided she was going to attend a lunch.

[Sienna Dietrich]

We drove down to Cleveland. I'm pretty sure it was like the next day or sometime that week. It was a very quick turnaround. And we were in her office, like, we did an exam. We, like, talked about all the factors that we had in my chart to support, like, a clinical diagnosis. She asked me some questions. Like, I'd always called my muscle weakness weakness. But she was like, do you think you could call it a heaviness? And I was like, wait, that's an even better word. That describes exactly what I'm feeling. She asked me about if I noticed this heaviness more when it was cold, or if I had gone for milkshakes with Holly, or if all these things we would go through, like rest after exercise, was that when things got heavier? It's definitely those things. Maybe there is a pattern here. She told me that I had periodic paralysis.

[Dr. Betul Haripaglu]

Periodic paralysis is the potassium in her body shifts. She become low potassium. However, the low potassium is not actually real. There's a shift from one space to another. So it's not like you have a diarrhea. You lose the potassium, and you have low potassium. This is suddenly from one side cell to the other, from the blood to the cell. It shifts. So you have sudden loss of potassium so quick that your body gets paralyzed, because that's what happens when you have low potassium.

[Lauren Bright Pacheco]

Do you remember what it felt like to confirm that hunch?

[Dr. Betul Haripaglu]

Yes. I remember sending her to neurology to get tests for periodic paralysis. And I was just fearful because I didn't know. And it was positive. It was positive.

[Sienna Dietrich]

We had from the drug manufacturer, the book, the little pamphlet about it. And we went through it together because she was like, I am not an expert in periodic paralysis, but we can learn about this together. There were some bumps and turns along the way, but we figured it out together, and we always have. That's the thing about her is she'll always be in your back, like, in your corner. Whenever I have a new symptom, I feel like she's always the first person who I tell.

[Lauren Bright Pacheco]

What are some of the telltale triggers of periodic paralysis?

[Dr. Betul Haripaglu]

I absolutely not count myself as an expert. Like, I am an amazing expert in thyroid and diabetes. I am not in this field. But high carbohydrate meals, for example, exercise, for example, stress, Classically, these people can just get paralyzed like that and faint. It's quite scary. Temperatures as well, the high temperature? Yes. And cold temperature, if you're in the cold as well. Yes.

[Lauren Bright Pacheco]

That makes so much sense. Sienna remembers that during a periodic paralysis episode that took place while she was performing at her high school band, that she had been sitting directly under a cold air vent, and suddenly she couldn't move at all. And then the adults thought that she might have had low blood sugar or that she was hungry, so they gave her a bunch of sugary snack treats. And it actually made things worse. Yes, it's all there in the story she tells.

[Dr. Betul Haripaglu]

So the fascinating part that some of the illnesses in my life that I diagnosed is all honestly, to want to listen, really listen almost. You get so infused by the patient's experience that there is no limit between you and them at that moment. I lose myself almost when I'm listening to the story, like a great movie, that you're not you anymore. You are in the movie. I have huge respect to science. I'm a professor, so I did a lot of research I still do, which is very important. However, knowing the limitations of science, scientific books, accepting that medicine still continues to be an art, which means you need to be flexible in your mind where this could fit.

[Lauren Bright Pacheco]

I love that medicine is an art. So you have to be a creative thinker.

[Dr. Betul Haripaglu]

Absolutely. Innovative, creative, putting things together. Even if this is the first time.

[Lauren Bright Pacheco]

Holly remembers how life changing it was for Sienna to finally know exactly what could trigger an episode of paralysis in her.

[Holly]

Previously, we had just been kind of navigating in the dark, and so knowing that there was the cold triggers or the different triggers that come with just. It helps to give a sense of comfort in knowing that, okay, we can plan for this or we can navigate this space. I've gotten to see Sienna learn, relearn how to walk several times, and being able to see her work with her physical therapists after different periodic paralysis attacks to gain her strength back.

[Lauren Bright Pacheco]

Do you remember her reaction when she finally got her diagnosis?

[Dr. Betul Haripaglu]

Huge relief. Reassurance she wasn't losing, wasn't in her head. Cause there was something we could do for it. We could treat it.

[Lauren Bright Pacheco]

So what are some of the ways you have worked with Sienna to manage her condition?

[Dr. Betul Haripaglu]

We just started, you know, supplementing potassium, making sure she doesn't have pure sugars, avoiding the triggers as well. As we tried medications.

[Sienna Dietrich]

I was started on treatment that week. And I think within my periodic paralysis diagnosis, I was super lucky because people will go to the er, the periodic paralysis for years, time after time with these symptoms and these attacks and not get help for it. And my diagnosis always felt like it kind of fell into my lap because we weren't even looking for it.

[Lauren Bright Pacheco]

As is true with so many things, once we see where one piece of the puzzle belongs, the other pieces start to make sense. A few years after she was diagnosed with periodic paralysis, Sienna Was also diagnosed with Rohad, which stands for rapid onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation. Rohad is a rare life threatening disorder that creates breathing problems. Known as hypoventilation. The condition can often lead to death. A few years after Sienna was diagnosed by you with periodic paralysis, she received an additional diagnosis. Did she share that with you and were you surprised?

[Dr. Betul Haripaglu]

Yes, I was surprised. Periodic paralysis was just a piece of what was happening in her entire system. And that is usually the case when you are dealing with this rare illnesses that starts happening in a very young age. And at least you know that other people are helping you to make this person have a much better and high quality life.

[Lauren Bright Pacheco]

All those years that Sienna had been passing out and losing her vision can be attributed to Rohad. So just explain how you explain Rohad to people.

[Sienna Dietrich]

So when I explain it to people, we start off with my brain not telling me to breathe. My lungs work perfectly fine. My brain just doesn't tell them to do the breathing thing.

[Dr. Betul Haripaglu]

When you take a deep breath so you know how your chest expands and then you feel good. Some of these patients, the diaphragm cannot necessarily expand. They have to remember to take a deep breath, otherwise you don't breathe. So by putting a pacemaker, like a heart pacemaker, it helps you to breathe better.

[Sienna Dietrich]

Then we'll talk about like my hypothalamus. My hypothalamus doesn't make all the different levels and hormones and things that it should. And so I take steroids and different things to make up for that and a slew of other treatments that help the bigger picture for it. And then I have autonomic dysfunction or dysregulation from it. And that can be anything from passing out to my body not controlling my temperature or anything your body does autonomically. Mind just doesn't like to do in a weird way.

[Lauren Bright Pacheco]

Forcing yourself to breathe for saxophone probably helped that from happening earlier.

[Sienna Dietrich]

Yeah, I spent so much time every day playing saxophone, Some of my doctors are like, that probably kept you alive. I should have been feeling worse. I'm exerting all this energy and when I stop playing is when I would start passing out.

[Lauren Bright Pacheco]

I'm sure now that you have answers, it's much easier for you to navigate in real time as you feel an episode coming on and also the aftermath of it.

[Sienna Dietrich]

Yeah, I know what to do. I know what triggers to avoid. My service dogs also, they can sense an attack before I have it about 20, 30 minutes before, which is extremely helpful. Having the diagnosis and having that support has been life changing.

[Lauren Bright Pacheco]

Now, with the right diagnosis in hand, Sienna has built a community and beaten the odds she would not die before 25. Far from it. Now 31 years old, Sienna is a testament to living beyond expectations. Holly told me they didn't think you were gonna make it to the age of 25.

[Sienna Dietrich]

When I went to the Mayo Clinic, I was on palliative care before I got my diaphragm pacemaker, and we were just doing things to try to keep me alive. And when it came down to getting the pacemaker, no one knew if I was even gonna live through the surgery. No one knew if I was gonna have a 25th birthday. The pacemaker was our Hail Mary. It was our last try. So after that, all of my birthdays have become bonus birthdays, which makes them even more magical.

[Holly]

So 25 came along, and then 26 came along. And one thing about Sienna that I love is try sticking her in a box or try telling her what she can't do. Give her a challenge, and then watch her soar.

[Lauren Bright Pacheco]

Sienna has time and time again endured challenges at the hand of her conditions. And on the eve of her 30th birthday, Sienna started using a wheelchair almost full time.

[Holly]

It's a dynamic disability, being able to. To use the arm crutches and then some days use the wheelchair, and some days she's be walking. But it's just been exciting to see her learn how to navigate the world and navigate it so well. Regardless of what mobility age she has, she was. She walked down the aisle at my wedding, and we were all crying, and it was just really neat.

[Sienna Dietrich]

I did special physical therapy and worked even harder. You know, she wanted to get married on this mountain, and I was like, yeah, let's go. I walked down the aisle, and I stood up there the whole time. And thankfully, it was a short ceremony and it was beautiful.

[Holly]

We can get back to living life to the fullest. She's not letting any timelines, any diagnoses determine who she is and who she should be.

[Lauren Bright Pacheco]

What is the message that you want people to take away from your story?

[Sienna Dietrich]

Having the ability to share my story with all these people create change, Claiming a spot in the world for people with disabilities that's been hidden for so long and finding each other, I think that's such a special part of it. There's so much joy in life every single day, no matter what you have or what you're living with, just stopping to smell the roses. Or dance in the rain and just them knowing that it's not about how much time you have in life, but how much life you put in the time you have. I'm Sienna Dietrich, and It took me 26 years to find out. I have clinical periodic paralysis.

[Lauren Bright Pacheco]

You can learn more about periodic [e-mail] you can follow Sienna at chronicallypersevering on Instagram, TikTok, Facebook, and YouTube. Coming up on the next episode of Symptomatic. Rock star Casey McPherson and his family were shocked to the core when his daughter Rose was diagnosed with a rare genetic mutation that has no known treatment.

[Frank]

Finally calling my name, going into the small little and the pediatric neurologist walking in with very little empathy and saying, casey, your daughter has a rare genetic disease. And those words ringing in my ears. There's really nothing we can do, Casey, you know, other than make her comfortable. That was a pediatric neurologist. Like, where else am I going to go?

[Lauren Bright Pacheco]

Faced with the possibility of losing his daughter, the frontman of Flying Colors dropped everything to devote his life to trying to find a cure before time runs out. As always, we would love to hear from you. Send us your thoughts on this episode or share a medical mystery of your own@ symptomaticiheartmedia.com and please rate and review Symptomatic Wherever you get your podcasts, we'll see you next time. And until then, be well. Symptomatic A Medical Mystery Podcast is a production of I Heart Media's Ruby Studio. Our show is hosted by me, Lauren Bright Pacheco. Our executive producers are James Foster, Matt Romano and myself. Our supervising producers are Ryan Ovadia, Haley Aaliyah Erickson and Daniel Ainsworth. This episode was written by Haley Alia Erickson and edited by Daniel Ainsworth.

[Novartis Representative]

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[Holly]

This is an iHeart podcast.

[Sienna Dietrich]

Guaranteed Human.