November 25, 2025 • 41 mins
For as long as Cienna Ditri can remember, she has had random bouts of “heavy legs”and loss of vision. As she got older - that sensation grew into episodes in which she could not move altogether. Cienna was passing out multiple times a day and frequently losing vision. After a slew of misdiagnoses - she was unsure she would ever understand the cause…until one doctor found the needle in the haystack.
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****** SPOILER ALERT BELOW ******
You can learn more about Periodic Paralysis at periodicparalysis.org
You can follow Cienna at @chronicallyperservering on instagram, tiktok, facebook, and youtube.
You can find Cienna’s substack “In Rare Form” at chronicallypersevering.substack.com
See omnystudio.com/listener for privacy information.
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Transcript
Episode Transcript
Available transcripts are automatically generated. Complete accuracy is not guaranteed.
Speaker 1 (00:06):
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.
Speaker 2 (00:17):
Doctors just gave her a timeline of we don't think
you'll look past your twenty fifth birthday.
Speaker 3 (00:23):
The life becomes so restrictive that the fear that dominates not.
Speaker 4 (00:31):
Becomes unbearable.
Speaker 1 (00:33):
I didn't have these long term dreams or goals because
there was no long term I was just fighting survive
every day.
Speaker 5 (00:44):
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 my can suffer from
some chronic illness, and many struggle for an accurate diagnosis.
(01:06):
These are their stories. I'm Lauren Bray Pacheco and this
is symptomatic.
Speaker 1 (01:18):
Hi, I've Sienna. If you haven't met me yet, I
would say that I am a thirty one 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.
Speaker 5 (01:36):
Sienna Deetree 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 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
(02:02):
being a social media star, slash influencer, slash advocate, what
are your loves? What are your passions?
Speaker 1 (02:10):
I love surfing and I've always been obsessed with dogs,
like I was a 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.
Speaker 5 (02:28):
Those Siena'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.
Speaker 1 (02:49):
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 the middle of the night, or she'd
come to check on me, and when I was sleeping,
I'd be purple and she was just like, why my
baby purple? That doesn't seem normal. But they kind of
(03:12):
wrote her office of worried first time mom, what would.
Speaker 5 (03:15):
Be the next major symptom that manifested itself in your childhood.
Speaker 1 (03:21):
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,
(03:42):
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.
Speaker 5 (03:49):
When was the first time that you remember your parents
keying in on something not being normal and taking you
to the doctor.
Speaker 1 (03:57):
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
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
(04:17):
things and just kind of like write it all off. Eventually,
it was just like, what's the point.
Speaker 5 (04:25):
Do you think it's possible that your effufescent personality may
have in some way worked against you in those interactions
with doctors?
Speaker 1 (04:33):
Well, definitely, it definitely did. I remember as I got
older and we'd go to see like specialists, my mom
be 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,
(04:54):
tell them about your worst day. Your worst day needs
to do what they think every day is like.
Speaker 5 (05:01):
Although Siena spent her childhood in and out of doctors' 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
(05:22):
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?
Speaker 1 (05:41):
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
(06:03):
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
sex phone 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
(06:23):
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 bandroom was.
(06:47):
I heard my lesson teacher's voice, so I followed that,
and there was like a little office in the bandroom,
and I heard her and there apparently I was just
as pale as could be. My lips were like purple,
my fingers hands were like purple. She took one luck
at me and was like, you need to sit down now.
So I sat down right when she told me to
(07:12):
sit down, and I actually sat on someone.
Speaker 6 (07:15):
She just happened to sit on me.
Speaker 5 (07:17):
That is Hollie.
Speaker 1 (07:19):
I'd never met her before, but today we're best friends.
Speaker 2 (07:22):
She just sat in the first spot that she thought
was available, or remembering where there was a couch.
Speaker 5 (07:27):
These two have been able to connect on a level
more than most because Holly has also struggled with her
own chronic health conditions.
Speaker 2 (07:37):
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.
Speaker 1 (07:56):
Oh yeah, that's how I met Holly and my vision
all on the same day.
Speaker 5 (08:02):
Did you go to the doctor after that incident?
Speaker 1 (08:05):
Actually, I called my dad and I think we just
went home.
Speaker 5 (08:09):
And then after that day what happened.
Speaker 1 (08:15):
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. Is
your junior year. A lot of doctors were just like, Oh,
it's stressed. 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.
Speaker 5 (08:34):
No formal diagnosis is given to you.
Speaker 1 (08:37):
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.
Speaker 5 (08:57):
The reason why you had escorts in high school. Was
because of the epilepsy.
Speaker 1 (09:01):
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
(09:23):
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.
Speaker 5 (09:44):
Somehow, 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.
Speaker 1 (10:04):
I had been super excited for it. I had been
dreaming of this moment for years. I'd done tons of competitions.
I love 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
(10:25):
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
(10:46):
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 me out the side
of his eye and he came back, and my parents
came up. Guayaciana still on the stage. I was under
(11:06):
a cold air duct and I was like, I can't
get up. Somebody suggested that 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,
(11:29):
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.
Speaker 5 (11:43):
You're getting possible diagnosis but no solutions.
Speaker 1 (11:50):
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.
Speaker 5 (12:05):
Still battling to make it through the day without passing out,
Sena 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.
Speaker 1 (12:23):
I would wake up without vision almost every single day.
There was also like fifty 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 going
(12:44):
to be like this the rest of my life, so
I got to learn how to do this.
Speaker 5 (12:48):
I know that there was a very specific incident in
which Triton saved your life.
Speaker 1 (12:54):
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 felt I
(13:15):
hit my head and it closed the drain, so not good.
When I came back too, Tryton had gotten partially into
the shower and was holding my head up out of
the water. Oh at the time, my primary care doctor,
(13:39):
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 the appointment she was like,
in order to keep doing things independently, I think you
need to get a service dot. 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'd sat on, Hollie, also had developed chronic conditions of
(14:03):
her own. Well I grew up with mine, she was
starting to develop hers and was thinking about getting a
service dog.
Speaker 2 (14:10):
We had both kind of been considering it on our
own journeys.
Speaker 6 (14:14):
I had shared that, okay, I was going to.
Speaker 2 (14:17):
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.
Speaker 1 (14:35):
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.
Speaker 5 (14:45):
Did he go back to college with you?
Speaker 1 (14:47):
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. Professor would go down
to line and tune and everyone and he didn't even
have to say anything when people were out tuned because
this dog put just like er moaning when people were
(15:10):
out of tune. But I couldn't stop passing out, and
I got to my saxophone lesson and passed out there.
I remember, like, see there laying on the floor. Professor.
She was like, you gotta call your mom. Mom, you
gotta go to the er. This is not okay. And
(15:30):
normally when I passed out like more than normal, it
was because something else was going on.
Speaker 5 (15:36):
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.
Speaker 1 (15:50):
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
(16:13):
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.
(16:34):
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 set 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 Neural just there and he's like,
(16:57):
you had gyam Beret. How are you still alive? 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.
Speaker 5 (17:16):
A quick aside. Guyon Beret 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 gyon beret
is the answer, that this is what's causing everything?
Speaker 1 (17:38):
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 of these new doctors and
all these specialists.
Speaker 5 (17:48):
Do you remember what kind of things are being thrown
out at this point as possibilities?
Speaker 1 (17:53):
There was just she have a mitochondrial disorder. I was
sent to endochronology. They realized my bloodsheed 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 a full exo, and
then a couple years later we did the pole genail
and sequencing. Still have migraines, so that was always there.
(18:17):
I was just like, I don't really care what I
have as long as I feel better, That's all I
cared about.
Speaker 3 (18:25):
Mysteries of meticin sometimes is a hardship to the patient
and a heartache to the providers.
Speaker 5 (18:39):
That is doctor Betool Hottipoglu, an indocrinologist at University Hospitals.
Into Chronology is the specialized area of medicine that focuses
on the indocrine system. They look at glands that produce
hormones responsible for regulating growth, metabolism, and reproduction. Doctor Huttipoglu
is often looking for answers that are not yet visible.
Speaker 3 (19:03):
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 this
is gonna be. I don't know the answer, because what
I can see, feel, smell is a bulb. I don't
(19:25):
know what kind of flower that is. So the mystery
sometimes needs more puzzle pieces together for a person to realize, Aha, that's.
Speaker 4 (19:36):
What you have. But unfortunately it can take a long time.
Speaker 5 (19:41):
When someone presents with an illness from an early age,
is it easier on some levels to dismiss.
Speaker 4 (19:49):
I'm sure that is true.
Speaker 3 (19:51):
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 woman is treated at
(20:12):
bit differently than the men. 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 provider were seeing them.
Speaker 5 (20:32):
By seeing a senior year in college, she wasn't able
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.
Speaker 1 (20:49):
My mom drove me an hour up to where I
went to college, and I went to classes. What's my mom?
I 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
(21:12):
just getting worse. This could be detrimental. You might not
make it. I just was like, Okay, I'll take a
semester off, I'll take a medical leave. It's going to
be fine, and then I'm going to be back. And
my medical leaf never ended and I never went back.
Speaker 5 (21:29):
That must have been difficult, given how hard you fought.
Speaker 1 (21:33):
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 her own chronic conditions.
Speaker 5 (21:52):
Was there a time that you remember thinking I could
lose my best friend.
Speaker 1 (21:57):
Yeah.
Speaker 6 (21:58):
Absolutely.
Speaker 2 (21:59):
There was a time where where doctors just gave her
a timeline of well, we don't think you'll live past
your twenty fifth birthday.
Speaker 5 (22:09):
Will be right back with Symptomatic a Medical Mystery Podcast.
Now back to Symptomatic a Medical Mystery Podcast. At this
point in her life, Siena 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
(22:30):
more than once. By the time she meets doctor Hattipoglu,
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
doctor Hatipoglu have a beautiful connection. How would you describe
(22:56):
Sienna to somebody who has not had the pleasure of
crossing paswths with her?
Speaker 3 (23:01):
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.
Speaker 4 (23:24):
That's who she is.
Speaker 1 (23:27):
And then she saw this poster for a 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 I went,
and she called me from the lunch and learn you
have to come see me in Cleveland tomorrow.
Speaker 5 (23:49):
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 sorts when the
light bulb went off and you realized, oh my lord,
this is what Sienna has.
Speaker 3 (24:06):
I always listen to Patience 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 this.
Speaker 4 (24:28):
Oh my god, that's what she has and he has.
I could not wait to tell them.
Speaker 5 (24:36):
I said, oh my god, how didn't I think.
Speaker 4 (24:39):
About it before? It was an amazing wake up quote
for me.
Speaker 5 (24:44):
You remember the phone call that when you called Sienna.
Speaker 3 (24:49):
It was fascinating to blurt. I think I know what
Sean I could of one hundred percent right. I mean,
this is medicine, it's rare. I think we can fix
this better than at least.
Speaker 4 (25:04):
I could before. I didn't know, as you know, knowing
and naming.
Speaker 5 (25:09):
It the name of the condition that had been taking away.
Seeina's ability to move was discovered all because doctor Hottipoglu
decided she was going to attend a lunch.
Speaker 1 (25:23):
We drove down to Cleveland. I'm pretty sure it was
like the next day or sometime that week. It was
a very quick turn around, 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
(25:44):
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 hot or
if all these things we would go through, like rest
after exercise, was that one things got heavier. It's definitely
(26:09):
those things. Maybe there is a pattern here. She told
me that I had periodic process.
Speaker 3 (26:20):
Periodic paralysis is the potassium in her body shifts, she
becomes 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
(26:43):
and you have low potassium. This is suddenly from one
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 LOPU test.
Speaker 5 (27:03):
Do you remember what it felt like to confirm that hunch.
Speaker 3 (27:08):
Yes, I remember sending her to neurology to get tested
for a periodic paralysis, and I.
Speaker 4 (27:16):
Was just fearful because I didn't know, and it was positive.
It was positive.
Speaker 1 (27:25):
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
boss 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
(27:47):
always the first person who I tell.
Speaker 5 (27:51):
What are some of the telltale triggers of periodic paralysis.
Speaker 3 (27:59):
I absolutely not count myself as an expert, like I
am an amazing expert in thyroid and diabetes.
Speaker 4 (28:06):
I am not in this field.
Speaker 3 (28:08):
But high carbohydrate meals for example, exercise, for example, stress classically,
these people can just get paralyzed like that and faint.
Speaker 4 (28:22):
It's quite scary.
Speaker 3 (28:24):
Temperatures as well, the high temperature, yes, and cold temperature
if you're in the cold as well.
Speaker 5 (28:30):
Yes, that makes so much sense. Sina remembers that during
a periodic paralysis episode that took place while she was
performing at her high school band, that she'd 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,
(28:51):
so they gave her a bunch of sugary snack treats
and it actually made things worse. Yes, it's all there
in this story. She tells.
Speaker 3 (29:01):
So the fascinating part that some of the illnesses in
my life that I diagnose this all honestly to.
Speaker 4 (29:13):
One, listen, really listen.
Speaker 3 (29:20):
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.
(29:45):
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, accept that medicine still continues
to be an art, which means you need to be
(30:07):
flexible in your mind where this could fit.
Speaker 5 (30:13):
I love that medicine is an art, so you have
to be a creative thinker.
Speaker 3 (30:18):
Absolutely innovative, creative putting things together. Even if this is
the first time.
Speaker 5 (30:27):
Holly remembers how life changing it was for Sienna to
finally know exactly what could trigger an episode of paralysis
in her.
Speaker 2 (30:35):
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 it, it just 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
(30:56):
several times, and being able to see her work with
her physical therapists after different periodic paralysis attacks to gain
her strength back.
Speaker 5 (31:06):
Do you remember her reaction when she finally got her diagnosis.
Speaker 3 (31:11):
Huge relief, reassurance she wasn't losing it, It wasn't in
her head because there was something we could do for it,
We could treat it.
Speaker 5 (31:24):
So what are some of the ways you have worked
with Sienna to manage her condition.
Speaker 3 (31:32):
We just started, you know, supplemented potassium, making sure she
doesn't have pure sugars, avoiding the triggers, as well as
we tried medications.
Speaker 1 (31:46):
I was started on treatment that week, and I think
within my peria proalyssis diagnosis, I was super lucky because
people will go to the er that puriac proalysis 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
(32:07):
weren't even looking for it.
Speaker 5 (32:10):
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, Siena was also diagnosed with ROHOD,
which stands for rapid onset obesity with hypothalmic dysfunction, hypoventilation,
(32:33):
and autonomic dysregulation. Rohod is a rare, life threatening disorder
that creates breathing problems known as hypoventilation. The condition can
often lead to death. A few years after Sena was
diagnosed by you with periodic paralysis, she received an additional diagnosis.
(32:55):
Did she share that with you? And were you surprised?
Speaker 3 (32:59):
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 at a very young age,
(33:23):
and at least you know that other people are helping
you to make this person have a much better and
high quality life.
Speaker 5 (33:35):
All those years that Sienna had been passing out and
losing her vision can be attributed to rohod. So just
explain how you explain rohad to people.
Speaker 1 (33:47):
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.
Speaker 3 (33:58):
When you take a deep breath, so you know how
your chest expands and then you feel good. Some of
these patients, the DAP fram cannot necessarily expand they have
to remember to take a deep breath otherwise they don't breathe.
(34:19):
So by putting a pacemaker, like a heart pacemaker, it
helps you to breathe better.
Speaker 1 (34:28):
Then we'll talk about like my hypothemis. My hypothemis 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
(34:49):
can be anything from passing out to my body not
controlling my temperature or anything your body does autonomically. Mine
just doesn't like to do.
Speaker 5 (34:58):
In a weird way. Forcing yourself to breathe, for saxophone
probably helped that from happening earlier.
Speaker 1 (35:07):
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 stopped playing is when I would start
passing out.
Speaker 5 (35:22):
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.
Speaker 1 (35:34):
Yeah, I know what to do. I know what triggers
to avoid. My service dogs also they consents an attack
before I have it, about twenty thirty minutes before, which
is extremely helpful. Having the diagnosis and having that support
has been life changing.
Speaker 5 (35:54):
Now with the right diagnosis in hand, Sienna has built
a community and beaten the off She would not die
before twenty five, far from it. Now thirty one years old,
Sienna is a testament to living beyond expectations. Holly told me,
they didn't think you were going to make it to
(36:16):
the age of twenty five.
Speaker 1 (36:18):
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 going to live through
the surgery. No one knew if I was going to
have a twenty fifth birthday. The pacemaker was our hail Mary.
It was our last try. So after that, all my
(36:40):
birthdays had become bonus birthdays, which makes them even more magical.
Speaker 2 (36:45):
So twenty five came along, and then twenty six 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 sore.
Speaker 5 (37:05):
Sienna has time and time again endured challenges at the
hand of her conditions, and on the eve of her
thirtieth birthday, Sienna started using a wheelchair almost full time.
Speaker 2 (37:16):
It's a dynamic disability, being able to use the arm
crutches and then some days use the wheelchair and some days.
Speaker 6 (37:24):
She's be walking.
Speaker 2 (37:26):
But it's just been exciting to see her learn how
to navigate the world and navigate it so well regardless
of what mobility aide she has. She walked down the
aisle at my wedding and we were all crying, and
it was just really neat.
Speaker 1 (37:43):
I did special physical therapy and works even harder.
Speaker 3 (37:48):
You know.
Speaker 1 (37:48):
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. It was beautiful.
Speaker 6 (38:01):
We can get back to living life, to the fullest.
Speaker 2 (38:05):
She's not letting any timelines, any diagnoses determine who she
is and who she should be.
Speaker 5 (38:14):
What is the message that you want people to take
away from your story?
Speaker 1 (38:18):
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.
(38:41):
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 Sanadetrie and it
took me twenty six years to find out I have
(39:02):
clinical periodic paralysis.
Speaker 5 (39:05):
You can learn more about periodic paralysis at periodic paralysis
dot org. You can follow Sienna at chronically Persevering on Instagram, TikTok, Facebook,
and YouTube. Coming up on the next episode of Symptomatic,
rock star Casey McPherson and his family were shocked to
(39:26):
the core when his daughter Rose was diagnosed with a
rare genetic mutation that has no known treatment.
Speaker 7 (39:34):
Finally calling my name, going into the small little room,
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
(39:57):
comfortable or role that was a pediatric neurologists, Like, where
else am I going to go?
Speaker 5 (40:02):
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 at Symptomatic at iHeartMedia dot com, and please
(40:26):
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 iHeartMedia's Ruby Studio.
Our show is hosted by me Lauren Bright Pacheco. Our
executive producers are James Foster, Matt Ramano, and myself. Our
(40:50):
supervising producers are Ryan Ovadia Haley, Aliah Erickson, and Daniel Ainsworth.
This episode was written by Haley Aliah Ericsson and edited
by Daniel Ainsworth.
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.
Speaker 2 (00:17):
Doctors just gave her a timeline of we don't think
you'll look past your twenty fifth birthday.
Speaker 3 (00:23):
The life becomes so restrictive that the fear that dominates not.
Speaker 4 (00:31):
Becomes unbearable.
Speaker 1 (00:33):
I didn't have these long term dreams or goals because
there was no long term I was just fighting survive
every day.
Speaker 5 (00:44):
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 my can suffer from
some chronic illness, and many struggle for an accurate diagnosis.
(01:06):
These are their stories. I'm Lauren Bray Pacheco and this
is symptomatic.
Speaker 1 (01:18):
Hi, I've Sienna. If you haven't met me yet, I
would say that I am a thirty one 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.
Speaker 5 (01:36):
Sienna Deetree 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 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
(02:02):
being a social media star, slash influencer, slash advocate, what
are your loves? What are your passions?
Speaker 1 (02:10):
I love surfing and I've always been obsessed with dogs,
like I was a 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.
Speaker 5 (02:28):
Those Siena'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.
Speaker 1 (02:49):
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 the middle of the night, or she'd
come to check on me, and when I was sleeping,
I'd be purple and she was just like, why my
baby purple? That doesn't seem normal. But they kind of
(03:12):
wrote her office of worried first time mom, what would.
Speaker 5 (03:15):
Be the next major symptom that manifested itself in your childhood.
Speaker 1 (03:21):
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,
(03:42):
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.
Speaker 5 (03:49):
When was the first time that you remember your parents
keying in on something not being normal and taking you
to the doctor.
Speaker 1 (03:57):
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
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
(04:17):
things and just kind of like write it all off. Eventually,
it was just like, what's the point.
Speaker 5 (04:25):
Do you think it's possible that your effufescent personality may
have in some way worked against you in those interactions
with doctors?
Speaker 1 (04:33):
Well, definitely, it definitely did. I remember as I got
older and we'd go to see like specialists, my mom
be 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,
(04:54):
tell them about your worst day. Your worst day needs
to do what they think every day is like.
Speaker 5 (05:01):
Although Siena spent her childhood in and out of doctors' 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
(05:22):
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?
Speaker 1 (05:41):
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
(06:03):
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
sex phone 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
(06:23):
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 bandroom was.
(06:47):
I heard my lesson teacher's voice, so I followed that,
and there was like a little office in the bandroom,
and I heard her and there apparently I was just
as pale as could be. My lips were like purple,
my fingers hands were like purple. She took one luck
at me and was like, you need to sit down now.
So I sat down right when she told me to
(07:12):
sit down, and I actually sat on someone.
Speaker 6 (07:15):
She just happened to sit on me.
Speaker 5 (07:17):
That is Hollie.
Speaker 1 (07:19):
I'd never met her before, but today we're best friends.
Speaker 2 (07:22):
She just sat in the first spot that she thought
was available, or remembering where there was a couch.
Speaker 5 (07:27):
These two have been able to connect on a level
more than most because Holly has also struggled with her
own chronic health conditions.
Speaker 2 (07:37):
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.
Speaker 1 (07:56):
Oh yeah, that's how I met Holly and my vision
all on the same day.
Speaker 5 (08:02):
Did you go to the doctor after that incident?
Speaker 1 (08:05):
Actually, I called my dad and I think we just
went home.
Speaker 5 (08:09):
And then after that day what happened.
Speaker 1 (08:15):
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. Is
your junior year. A lot of doctors were just like, Oh,
it's stressed. 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.
Speaker 5 (08:34):
No formal diagnosis is given to you.
Speaker 1 (08:37):
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.
Speaker 5 (08:57):
The reason why you had escorts in high school. Was
because of the epilepsy.
Speaker 1 (09:01):
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
(09:23):
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.
Speaker 5 (09:44):
Somehow, 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.
Speaker 1 (10:04):
I had been super excited for it. I had been
dreaming of this moment for years. I'd done tons of competitions.
I love 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
(10:25):
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
(10:46):
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 me out the side
of his eye and he came back, and my parents
came up. Guayaciana still on the stage. I was under
(11:06):
a cold air duct and I was like, I can't
get up. Somebody suggested that 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,
(11:29):
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.
Speaker 5 (11:43):
You're getting possible diagnosis but no solutions.
Speaker 1 (11:50):
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.
Speaker 5 (12:05):
Still battling to make it through the day without passing out,
Sena 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.
Speaker 1 (12:23):
I would wake up without vision almost every single day.
There was also like fifty 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 going
(12:44):
to be like this the rest of my life, so
I got to learn how to do this.
Speaker 5 (12:48):
I know that there was a very specific incident in
which Triton saved your life.
Speaker 1 (12:54):
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 felt I
(13:15):
hit my head and it closed the drain, so not good.
When I came back too, Tryton had gotten partially into
the shower and was holding my head up out of
the water. Oh at the time, my primary care doctor,
(13:39):
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 the appointment she was like,
in order to keep doing things independently, I think you
need to get a service dot. 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'd sat on, Hollie, also had developed chronic conditions of
(14:03):
her own. Well I grew up with mine, she was
starting to develop hers and was thinking about getting a
service dog.
Speaker 2 (14:10):
We had both kind of been considering it on our
own journeys.
Speaker 6 (14:14):
I had shared that, okay, I was going to.
Speaker 2 (14:17):
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.
Speaker 1 (14:35):
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.
Speaker 5 (14:45):
Did he go back to college with you?
Speaker 1 (14:47):
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. Professor would go down
to line and tune and everyone and he didn't even
have to say anything when people were out tuned because
this dog put just like er moaning when people were
(15:10):
out of tune. But I couldn't stop passing out, and
I got to my saxophone lesson and passed out there.
I remember, like, see there laying on the floor. Professor.
She was like, you gotta call your mom. Mom, you
gotta go to the er. This is not okay. And
(15:30):
normally when I passed out like more than normal, it
was because something else was going on.
Speaker 5 (15:36):
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.
Speaker 1 (15:50):
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
(16:13):
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.
(16:34):
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 set 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 Neural just there and he's like,
(16:57):
you had gyam Beret. How are you still alive? 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.
Speaker 5 (17:16):
A quick aside. Guyon Beret 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 gyon beret
is the answer, that this is what's causing everything?
Speaker 1 (17:38):
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 of these new doctors and
all these specialists.
Speaker 5 (17:48):
Do you remember what kind of things are being thrown
out at this point as possibilities?
Speaker 1 (17:53):
There was just she have a mitochondrial disorder. I was
sent to endochronology. They realized my bloodsheed 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 a full exo, and
then a couple years later we did the pole genail
and sequencing. Still have migraines, so that was always there.
(18:17):
I was just like, I don't really care what I
have as long as I feel better, That's all I
cared about.
Speaker 3 (18:25):
Mysteries of meticin sometimes is a hardship to the patient
and a heartache to the providers.
Speaker 5 (18:39):
That is doctor Betool Hottipoglu, an indocrinologist at University Hospitals.
Into Chronology is the specialized area of medicine that focuses
on the indocrine system. They look at glands that produce
hormones responsible for regulating growth, metabolism, and reproduction. Doctor Huttipoglu
is often looking for answers that are not yet visible.
Speaker 3 (19:03):
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 this
is gonna be. I don't know the answer, because what
I can see, feel, smell is a bulb. I don't
(19:25):
know what kind of flower that is. So the mystery
sometimes needs more puzzle pieces together for a person to realize, Aha, that's.
Speaker 4 (19:36):
What you have. But unfortunately it can take a long time.
Speaker 5 (19:41):
When someone presents with an illness from an early age,
is it easier on some levels to dismiss.
Speaker 4 (19:49):
I'm sure that is true.
Speaker 3 (19:51):
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 woman is treated at
(20:12):
bit differently than the men. 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 provider were seeing them.
Speaker 5 (20:32):
By seeing a senior year in college, she wasn't able
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.
Speaker 1 (20:49):
My mom drove me an hour up to where I
went to college, and I went to classes. What's my mom?
I 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
(21:12):
just getting worse. This could be detrimental. You might not
make it. I just was like, Okay, I'll take a
semester off, I'll take a medical leave. It's going to
be fine, and then I'm going to be back. And
my medical leaf never ended and I never went back.
Speaker 5 (21:29):
That must have been difficult, given how hard you fought.
Speaker 1 (21:33):
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 her own chronic conditions.
Speaker 5 (21:52):
Was there a time that you remember thinking I could
lose my best friend.
Speaker 1 (21:57):
Yeah.
Speaker 6 (21:58):
Absolutely.
Speaker 2 (21:59):
There was a time where where doctors just gave her
a timeline of well, we don't think you'll live past
your twenty fifth birthday.
Speaker 5 (22:09):
Will be right back with Symptomatic a Medical Mystery Podcast.
Now back to Symptomatic a Medical Mystery Podcast. At this
point in her life, Siena 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
(22:30):
more than once. By the time she meets doctor Hattipoglu,
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
doctor Hatipoglu have a beautiful connection. How would you describe
(22:56):
Sienna to somebody who has not had the pleasure of
crossing paswths with her?
Speaker 3 (23:01):
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.
Speaker 4 (23:24):
That's who she is.
Speaker 1 (23:27):
And then she saw this poster for a 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 I went,
and she called me from the lunch and learn you
have to come see me in Cleveland tomorrow.
Speaker 5 (23:49):
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 sorts when the
light bulb went off and you realized, oh my lord,
this is what Sienna has.
Speaker 3 (24:06):
I always listen to Patience 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 this.
Speaker 4 (24:28):
Oh my god, that's what she has and he has.
I could not wait to tell them.
Speaker 5 (24:36):
I said, oh my god, how didn't I think.
Speaker 4 (24:39):
About it before? It was an amazing wake up quote
for me.
Speaker 5 (24:44):
You remember the phone call that when you called Sienna.
Speaker 3 (24:49):
It was fascinating to blurt. I think I know what
Sean I could of one hundred percent right. I mean,
this is medicine, it's rare. I think we can fix
this better than at least.
Speaker 4 (25:04):
I could before. I didn't know, as you know, knowing
and naming.
Speaker 5 (25:09):
It the name of the condition that had been taking away.
Seeina's ability to move was discovered all because doctor Hottipoglu
decided she was going to attend a lunch.
Speaker 1 (25:23):
We drove down to Cleveland. I'm pretty sure it was
like the next day or sometime that week. It was
a very quick turn around, 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
(25:44):
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 hot or
if all these things we would go through, like rest
after exercise, was that one things got heavier. It's definitely
(26:09):
those things. Maybe there is a pattern here. She told
me that I had periodic process.
Speaker 3 (26:20):
Periodic paralysis is the potassium in her body shifts, she
becomes 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
(26:43):
and you have low potassium. This is suddenly from one
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 LOPU test.
Speaker 5 (27:03):
Do you remember what it felt like to confirm that hunch.
Speaker 3 (27:08):
Yes, I remember sending her to neurology to get tested
for a periodic paralysis, and I.
Speaker 4 (27:16):
Was just fearful because I didn't know, and it was positive.
It was positive.
Speaker 1 (27:25):
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
boss 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
(27:47):
always the first person who I tell.
Speaker 5 (27:51):
What are some of the telltale triggers of periodic paralysis.
Speaker 3 (27:59):
I absolutely not count myself as an expert, like I
am an amazing expert in thyroid and diabetes.
Speaker 4 (28:06):
I am not in this field.
Speaker 3 (28:08):
But high carbohydrate meals for example, exercise, for example, stress classically,
these people can just get paralyzed like that and faint.
Speaker 4 (28:22):
It's quite scary.
Speaker 3 (28:24):
Temperatures as well, the high temperature, yes, and cold temperature
if you're in the cold as well.
Speaker 5 (28:30):
Yes, that makes so much sense. Sina remembers that during
a periodic paralysis episode that took place while she was
performing at her high school band, that she'd 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,
(28:51):
so they gave her a bunch of sugary snack treats
and it actually made things worse. Yes, it's all there
in this story. She tells.
Speaker 3 (29:01):
So the fascinating part that some of the illnesses in
my life that I diagnose this all honestly to.
Speaker 4 (29:13):
One, listen, really listen.
Speaker 3 (29:20):
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.
(29:45):
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, accept that medicine still continues
to be an art, which means you need to be
(30:07):
flexible in your mind where this could fit.
Speaker 5 (30:13):
I love that medicine is an art, so you have
to be a creative thinker.
Speaker 3 (30:18):
Absolutely innovative, creative putting things together. Even if this is
the first time.
Speaker 5 (30:27):
Holly remembers how life changing it was for Sienna to
finally know exactly what could trigger an episode of paralysis
in her.
Speaker 2 (30:35):
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 it, it just 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
(30:56):
several times, and being able to see her work with
her physical therapists after different periodic paralysis attacks to gain
her strength back.
Speaker 5 (31:06):
Do you remember her reaction when she finally got her diagnosis.
Speaker 3 (31:11):
Huge relief, reassurance she wasn't losing it, It wasn't in
her head because there was something we could do for it,
We could treat it.
Speaker 5 (31:24):
So what are some of the ways you have worked
with Sienna to manage her condition.
Speaker 3 (31:32):
We just started, you know, supplemented potassium, making sure she
doesn't have pure sugars, avoiding the triggers, as well as
we tried medications.
Speaker 1 (31:46):
I was started on treatment that week, and I think
within my peria proalyssis diagnosis, I was super lucky because
people will go to the er that puriac proalysis 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
(32:07):
weren't even looking for it.
Speaker 5 (32:10):
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, Siena was also diagnosed with ROHOD,
which stands for rapid onset obesity with hypothalmic dysfunction, hypoventilation,
(32:33):
and autonomic dysregulation. Rohod is a rare, life threatening disorder
that creates breathing problems known as hypoventilation. The condition can
often lead to death. A few years after Sena was
diagnosed by you with periodic paralysis, she received an additional diagnosis.
(32:55):
Did she share that with you? And were you surprised?
Speaker 3 (32:59):
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 at a very young age,
(33:23):
and at least you know that other people are helping
you to make this person have a much better and
high quality life.
Speaker 5 (33:35):
All those years that Sienna had been passing out and
losing her vision can be attributed to rohod. So just
explain how you explain rohad to people.
Speaker 1 (33:47):
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.
Speaker 3 (33:58):
When you take a deep breath, so you know how
your chest expands and then you feel good. Some of
these patients, the DAP fram cannot necessarily expand they have
to remember to take a deep breath otherwise they don't breathe.
(34:19):
So by putting a pacemaker, like a heart pacemaker, it
helps you to breathe better.
Speaker 1 (34:28):
Then we'll talk about like my hypothemis. My hypothemis 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
(34:49):
can be anything from passing out to my body not
controlling my temperature or anything your body does autonomically. Mine
just doesn't like to do.
Speaker 5 (34:58):
In a weird way. Forcing yourself to breathe, for saxophone
probably helped that from happening earlier.
Speaker 1 (35:07):
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 stopped playing is when I would start
passing out.
Speaker 5 (35:22):
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.
Speaker 1 (35:34):
Yeah, I know what to do. I know what triggers
to avoid. My service dogs also they consents an attack
before I have it, about twenty thirty minutes before, which
is extremely helpful. Having the diagnosis and having that support
has been life changing.
Speaker 5 (35:54):
Now with the right diagnosis in hand, Sienna has built
a community and beaten the off She would not die
before twenty five, far from it. Now thirty one years old,
Sienna is a testament to living beyond expectations. Holly told me,
they didn't think you were going to make it to
(36:16):
the age of twenty five.
Speaker 1 (36:18):
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 going to live through
the surgery. No one knew if I was going to
have a twenty fifth birthday. The pacemaker was our hail Mary.
It was our last try. So after that, all my
(36:40):
birthdays had become bonus birthdays, which makes them even more magical.
Speaker 2 (36:45):
So twenty five came along, and then twenty six 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 sore.
Speaker 5 (37:05):
Sienna has time and time again endured challenges at the
hand of her conditions, and on the eve of her
thirtieth birthday, Sienna started using a wheelchair almost full time.
Speaker 2 (37:16):
It's a dynamic disability, being able to use the arm
crutches and then some days use the wheelchair and some days.
Speaker 6 (37:24):
She's be walking.
Speaker 2 (37:26):
But it's just been exciting to see her learn how
to navigate the world and navigate it so well regardless
of what mobility aide she has. She walked down the
aisle at my wedding and we were all crying, and
it was just really neat.
Speaker 1 (37:43):
I did special physical therapy and works even harder.
Speaker 3 (37:48):
You know.
Speaker 1 (37:48):
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. It was beautiful.
Speaker 6 (38:01):
We can get back to living life, to the fullest.
Speaker 2 (38:05):
She's not letting any timelines, any diagnoses determine who she
is and who she should be.
Speaker 5 (38:14):
What is the message that you want people to take
away from your story?
Speaker 1 (38:18):
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.
(38:41):
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 Sanadetrie and it
took me twenty six years to find out I have
(39:02):
clinical periodic paralysis.
Speaker 5 (39:05):
You can learn more about periodic paralysis at periodic paralysis
dot org. You can follow Sienna at chronically Persevering on Instagram, TikTok, Facebook,
and YouTube. Coming up on the next episode of Symptomatic,
rock star Casey McPherson and his family were shocked to
(39:26):
the core when his daughter Rose was diagnosed with a
rare genetic mutation that has no known treatment.
Speaker 7 (39:34):
Finally calling my name, going into the small little room,
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
(39:57):
comfortable or role that was a pediatric neurologists, Like, where
else am I going to go?
Speaker 5 (40:02):
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 at Symptomatic at iHeartMedia dot com, and please
(40:26):
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 iHeartMedia's Ruby Studio.
Our show is hosted by me Lauren Bright Pacheco. Our
executive producers are James Foster, Matt Ramano, and myself. Our
(40:50):
supervising producers are Ryan Ovadia Haley, Aliah Erickson, and Daniel Ainsworth.
This episode was written by Haley Aliah Ericsson and edited
by Daniel Ainsworth.
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