October 17, 2023 • 33 mins
Suffering from incessant fevers, muscle pain, and mysterious nodules across his body for nine years, Chuck's hope was fading. No doctor could explain his sporadic flu-like symptoms. Then, he crossed paths with Dr. Daniel Kastner, an unconventional and brilliant physician with a unique approach to disease research. Together with his colleagues at the National Institutes of Health, their groundbreaking discovery might just hold the key to Chuck's medical mystery.
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If you’re looking for more information on VEXAS and to learn about Dr. Kastner's work, go to the National Institutes of Health's website at NIH.gov.
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Episode Transcript
Available transcripts are automatically generated. Complete accuracy is not guaranteed.
Speaker 1 (00:04):
I'd come home, I'd sort of have that fluish feeling,
and then the next morning I'd be fine. So this
developed into a pattern where I was in the living
room sweating out a fever with tibuprofen, and then again
the next day, you'd be fine.
Speaker 2 (00:20):
He started getting nodules on his body, like bumps, and
he had been to so many different doctors. I just
felt like they were just throwing a dart at what
this could be.
Speaker 3 (00:32):
You couldn't imagine that anyone could be alive and have
a mutation in that gene, so something obviously was wrong.
Speaker 4 (00:48):
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 all Americans suffer from
some chronic illness, and many struggle for an accurate diagnosis.
(01:12):
These are their stories. A Lauren brit Pacheco and this
is symptomatic. A chemist by profession, Chuck Stonner has always
(01:36):
been a meticulous and strong figure for everyone in his life,
with a straightforward sense of pride in what his faith
and hard work is given him. Chuck is a through
and through family man, extremely proud of his two kids
and their growing lives.
Speaker 1 (01:52):
We have some big ones. They're now thirty and twenty seven,
and we have a granddaughter. Her I just babysat Wednesday,
which is quite an effort, but it was a lot
of fun. It's interesting. My daughter's a physical therapist like
my wife. My son's a chemist like I was. He
(02:15):
just started working so in a process of cutting that
final cord, which is quite enjoyable.
Speaker 2 (02:20):
He's very devoted to his family and to making sure
that we all.
Speaker 5 (02:25):
Have good values.
Speaker 4 (02:27):
That's Tracy Chuck's wife. She describes him as loving, kind
and her perfect partner.
Speaker 5 (02:34):
We've been so long together.
Speaker 2 (02:36):
I don't know how to be me without him. I
don't know how to be just Tracy without Chuck.
Speaker 4 (02:47):
Busy, growing a successful career and loving family, Chuck never
would have imagined that a mysterious disease would come along
and threaten all of it, a journey that would have
him going in and out of hospitals, even fighting to survive.
He didn't realize it at the time, but in hindsight,
it all started at a friendly softball game.
Speaker 1 (03:13):
In the spring or summer of two thousand and nine,
I decided to get on a softball team with some friends,
and I found myself like instantly pulling handstrings, like when
I would run to first base. I had some interesting
pains in my hips right around that time as well.
How old were you, I'd see two thousand and nine
(03:35):
would put me about forty.
Speaker 4 (03:36):
Five, So you probably initially just dismissed it as wear
and tear and getting older, Yeah, I think so. That
wasn't until other new symptoms started to pop up. Pulled
hamstrings led to pain in this palvis right around the
belt line. These pains would gradually fade, so they didn't
(03:58):
concern him much. Things changed when he started to get
fevers regularly.
Speaker 1 (04:04):
So during the day, I'd feel like I'm just getting sick.
I'd come home, I'd sort of have that fluish feeling,
and then the next morning I'd be fine. So this
developed into a pattern, and it really got into daily
fairly high fevers where I was in the living room
sweating out a fever with ibuprofen, and then again the
(04:27):
next day you'd be fine. Something obviously was wrong.
Speaker 2 (04:31):
He would fight through it, the fevers, and I could
tell that it was going to be a bad day,
but he would still I mean, if there was something
we had to do, he would still do it. He's
very methodical, and I think being a chemist help him
with that.
Speaker 4 (04:45):
This mysterious pattern was becoming Chuck's new normal, with fevers
peaking as high as one hundred and three. His primary
care physician tried many different medicines without any success, the
first signs of Chuck's long journey to come until Chuck
was prescribed a regimen of steroids.
Speaker 1 (05:06):
I remember that that was just instant relief. Yeah, I
felt good. I remember there were some big snowfalls that
winter and I was out shoveling snow like it was nothing.
So that worked, but a bunch of other medications did
not work.
Speaker 4 (05:22):
For now, Chuck has found some relief from the daily
fevers and pains, but he's no closer to understanding the
bizarre set of symptoms he's been living with. Little known
to Chuck, there is a doctor who will change his
life forever. Doctor Daniel Kastner has been working tirelessly for
years in the field of genetic research, a passion that
(05:44):
sprouted unusually from his early studies in philosophy. Doctor Castner
has become somewhat of a genetic sleuth of unknown diseases.
Speaker 3 (05:54):
It was a combination of being a little bit turned
off by the drudge, if you will, of being in
class eight hours a day, five days a week, just
cramming facts into your head, versus having some exciting new
things to understand and maybe even be a part of
figuring out. And at that time in the early nineteen
(06:18):
seventies was one of the most exciting times in immunology
because we were just beginning to understand how immunology works.
Speaker 4 (06:27):
Doctor Castner is currently the head of the Inflammatory Disease
Section at the National Institutes of Health or NIH, in Bethesda, Maryland,
as part of the US Department of Health and Human Services.
The NIH is the nation's medical research agency. Doctor Castner's
time there started with his fellowship back in the seventies.
Speaker 3 (06:51):
Early in my fellowship at the NIH, there was a
revolution that was happening in medicine, and that revolution was
the Human Genome Project. And what the Human Genome Project
allowed us to do was to comprehensively and in an
unbiased fashion, survey the whole human genome to try to
(07:14):
figure out what was the cause at least of a
genetic disease.
Speaker 4 (07:18):
Being on the front lines, doctor Kastner saw the potential
to revolutionize how doctors diagnose, categorize, and treat diseases. He hypothesized,
if you could find common genetic variants shared among people
with a certain set of symptoms, you could then create
a very targeted and effective way to treat them.
Speaker 3 (07:41):
The first disease where I really tried to use this
Human Genome Project approach in order to solve that disease
is a disease called familial Mediterranean fever, and it's a
relatively rare disease. It's somewhat common in Israel and Turkey
and our me, but the patients are plagued with recurrent fevers.
(08:05):
And so I had decided that I was going to
use that as sort of a test case. And there
were a lot of people who would say, oh, Dan,
why are you wasting your time with this rare disease
that's only found in certain corners of the world.
Speaker 4 (08:22):
The millial Mediterranean fever or FMF, was a potentially deadly
disease before Castner was able to find the genetic variant
responsible for causing it. Now it is more easily tested
for and treated even in young children, saving countless lives.
For doctor Casner personally, this entire journey of discovering new
(08:44):
diseases and then effective treatments for them became a driving purpose.
I've read some articles in which you referred to yourself
at various points in times as a Don Quixote, the
classic literary character prone to noble and and practical ideals. Yeah,
I would think that Sherlock Holmes would be more applicable.
Speaker 3 (09:05):
Yeah, well, you know, I suppose that there's an element
of both of those in my character. But I do
like to take on something that's a bit heretical, and
I love to, you know, at least sometimes show the
naysayers that they're wrong, you know. And there's nothing more satisfying,
(09:26):
at least in some cases than being able to do that.
Not that there's any personal animosity or whatever, but it's
just a challenge then.
Speaker 4 (09:34):
A challenge that would eventually intertwine Chuck's path with doctor Castner's.
By now, Chuck had repeatedly gone through his doctor steroid regimen,
but couldn't keep the constant fevers away. It's been two
years since the fever started, and they're continuing to get worse.
When do you remember having something stick out to you
(09:58):
where you thought something is wrong here?
Speaker 2 (10:01):
Yeah, I mean probably after he started getting nodules on
his body like bumps, and he had been to so
many different doctors, and I just felt like they were
just throwing a dart at what this could be and
trying different medications, and I really thought, could this be cancer?
Could this be you know, something you know more than
(10:24):
just a flu? Chuck?
Speaker 4 (10:27):
How was this impacting your daily life at this point?
Speaker 1 (10:30):
Well, it was going to work saying I know I'm
going to get a fever today, and then just basically
sticking it out until you get home and then and
then lay down and sweat it out. You know. I
didn't stop working until twenty eighteen, so there was quite
a bit of time in.
Speaker 4 (10:46):
There that must have been one really frustrating, but two
really exhausting. It was it was Chuck's rheumatologists ran every
test they could think of, and nothing came back pass
He was then transferred to Johns Hopkins Rheumatology in hopes
they would have more tools to give him answers.
Speaker 1 (11:10):
I didn't fit any particular float chart or perfect picture
of symptoms that matched the disease. You know, I just
got moved to Johns Hopkins. These guys are going to
be able to tell me what's going on and figure
things out. And then once you went there a few times,
you realize they were as confused as the rhumatologist locally
(11:34):
was well.
Speaker 4 (11:35):
So during this time period, how are your symptoms progressing
and what things are getting worse?
Speaker 1 (11:42):
The consistent symptom has been the fevers. Other symptoms have changed.
I started getting some pretty significant rashes on my body,
sometimes even looking like they were going to break open
and very big, and that that could have been on
my face, on my ears.
Speaker 4 (12:02):
Was it cystic like? What did it look like? And
was it painful?
Speaker 1 (12:07):
It was not painful, but they would get just very
large red blotches and then they would sort of heal
from the center out, so you'd see rings at the end.
I'd get them on like my ear lobes, and once
or twice on the bridge of my nose, and there
(12:28):
was a fear that these things are going to break open.
Speaker 4 (12:31):
I can't imagine the anxiety of the unknown continuing for
that long.
Speaker 1 (12:38):
Yeah, it's the balance of the anxiety of the unknown
and the happiness of not being certain things. So when
you're testing for certain kinds of asculitis and they're saying
you don't have it, that's a good thing. So that
gives you a little bit of relief and gets here
with the frustration of not knowing for at least a while.
Speaker 4 (12:58):
The Johns Hopkins stuff are at a loss and Chuck
is stuck in a vicious cycle. He has a big
flare up, goes on another round of steroids. Things get
normal for a little while, and so goes the cycle
on and on. Though their faith is a source of hope,
Chuck and Tracy are starting to become desperate for answers.
(13:20):
Chuck is referred to another hospital, this time to take
part in a study of undiagnosed fever syndromes at the NIH,
where doctor Casner and other physician researchers have already been
revolutionizing medicine using genomics. After he discovered the genetic variants
(13:40):
that cause FMF, Casner continued to use genomics to pinpoint
the source of other genetic diseases. The thrill of scientific
discovery and seeing how that work changes people's lives kept
up his determined energy. After solving several other recurrent fever
syndrome mysteries. Casner has an another revolutionary idea. He proposed
(14:03):
an entirely new way of categorizing these types of diseases.
You then would later propose the idea of grouping a
subset of autoimmune diseases into their own distinct group called
auto inflammatory disease.
Speaker 3 (14:20):
Well, what was distinctive about these patients was that they
had recurrent fevers, they had very very severe inflammation, but
they didn't have auto antibodies, or they didn't have andigen
specific T cells. It's something that you see in autoimmune diseases.
And then shortly thereafter, I guess the philosopher and me
(14:40):
coming out, we wrote a paper in which we imagined
all of the diseases in the medical textbook and which
of them might fall into the category of auto inflammatory
disease and even categorize them. And then and this was
just a real lucky time, it turned out that a
year later, couple of the diseases that we had proposed
(15:02):
that many people scoffed at, is they're just having fun
or whatever with things. It turned out that those two diseases,
the genetic cause of them was found, and it turned
out to share a common domain and the gene with
the familial Mediterranean fever gene.
Speaker 4 (15:21):
Grouping the diseases in this way made it possible for
Cassner and his team to start assembling the bigger picture
of how all these fever syndromes were connected. This made
room for an entirely new way of trying out effective treatments,
in particular for one very deadly disease that targeted children,
and at least one.
Speaker 3 (15:41):
Of those diseases is a disease where kids that have
it are born with fevers and rashes and inflammation of
the lining around the brain. They go on to develop blindness, deafness,
intellectual disability, and some of them die before reaching adulthood.
Speaker 4 (15:58):
Finding the genetics then allowed a biotech company to develop
an inhibitor for what was triggering this deadly disease.
Speaker 3 (16:07):
And by giving them an inhibitor of this interluken I substance,
it totally turns off the inflammation and these kids are
now what we just saw one of them recently about
a month ago at a meeting who's now a biochemistry
graduate student.
Speaker 4 (16:22):
Wow Castener's unique perspective on genetic variants and the diseases
they caused continued to change people's lives with every new discovery.
He kept embracing different ways of approaching problems, and that
made him receptive to a new way of trying to
discover genetic diseases.
Speaker 3 (16:42):
First of all, I do have to give credit to
the fellow in my lab who was really the proponent
of taking this view. And so David Beck, who's the
name of the fellow, just felt that we were too slow,
and so he came up with this idea of genotype first.
Speaker 4 (17:00):
This approach started by finding a common genetic variant and
then seeing what symptoms that caused, going from cause to effect.
A subtle but life altering shift and perspective. But it
didn't come without its challenges.
Speaker 3 (17:17):
It is like looking for a needle within a needle,
and certainly it was a huge undertaking, no question about that.
For a while we kind of wondered whether it was
going to be successful. Theoretically it should work, so you know,
we just have to do it until you know, finally,
Is that.
Speaker 4 (17:35):
What kept you going, this kind of stubborn optimism.
Speaker 3 (17:39):
Yeah, you know, that's see the Don Quixote coming out.
Speaker 4 (17:46):
Doctor cassner By now had a decades long track record
of methodically searching and testing for the specific gene variants
causing fever syndrome. Similar to Chucks, he recategorized how doctors
view auto inflammatory diseases, trusting his instincts to approach the
diagnosis journey in new ways. He set up clinical research
(18:08):
at the NIH with his learnings at the forefront. This
is where he and Chuck would soon cross paths. So
in twenty twelve you are linked with the National Institutes
of Health and doctor Cassner, right, tell me the first
time you went there and were you hopeful or were
you just now what?
Speaker 1 (18:30):
So? I was pretty excited about that. It was that
you're going to the place that knows about these fever syndromes.
Doctor Casner, of course was probably the first person, or
one of the first few people I met there. Although
I was in the part of the tested group that
did not show positive for any of those syndromes. I
think it was about half that could be diagnosed and
(18:52):
half could not, and I was in it could not.
Speaker 3 (18:56):
And at that time he was one of a number
of patients are referred to us with unexplained fevers, and
so at the time that we saw him, he was
in his mid forties and had developed just seemingly out
of the blue, unexplained fevers and elevations of various blood
studies that indicated that there was inflammation going on in
(19:20):
his body. But actually at that time, there weren't very
many clues in terms of what was actually the basis
of that inflammation.
Speaker 2 (19:28):
So each time you get that like hope, Oh, this
doctor's going to be it, this doctor's going to be
the one that's going to figure it out, and they
see you a couple times and then you just know
it's They didn't really have anything else to offer, you know,
just try different medications, and you sort of feel like
(19:49):
they're spinning a wheel.
Speaker 4 (19:51):
After six years of symptoms and countless tests, there's little
left for Chuck to hold on to besides hope. And
though the nia now offers him a sliver of optimism
for finding answers, a terrifying flare up will test Chuck's
resilience in this search and possibly cost him his life.
Speaker 1 (20:13):
It was a life or death concern because this thing
had gone full force at the heart.
Speaker 4 (20:21):
We'll be right back with Symptomatic a Medical Mystery podcast.
Now back to Symptomatic a Medical Mystery podcast. It's been
(20:45):
almost a decade since Chuck first started showing symptoms of
a mysterious illness that was slowly chipping away at his
quality of life. It started with fevers and muscle pain
and progressed to include nodules and rashes, all of for
his body. Nine years of bouncing between doctors with little
to know answers as to what was causing this, but
(21:08):
Chuck was now being treated by a team at the
National Institutes of Health, including doctor Castner, a self described
Don Quixote figure, who gave Chuck hope he could finally
get some answers as to what had been plaguing him.
But even as research at the NIH forged ahead, Chuck
had a flare up that would take him to the
(21:29):
brink of death.
Speaker 5 (21:38):
We were in the mountains at his parents' house.
Speaker 2 (21:41):
We were there alone, and there was a snowstorm.
Speaker 5 (21:45):
He was having this pain in his abdomen.
Speaker 2 (21:48):
So another thing that Chuck would have as the disease
progressed was bloating in his stomach, and he.
Speaker 5 (21:56):
Said, I think I need to go to the hospital.
So we had to call.
Speaker 2 (21:59):
Nine one one Hello. The reception was terrible. I remember
having a difficulty getting even through to nine to one
one Hello, and thank god I was able to get
them there.
Speaker 1 (22:15):
So went to the emergency room and my heart function
was quite low, but not knowing what it was. You know,
is this something that's going to you know, is this
some kind of cancer that's going to take your life.
Speaker 4 (22:31):
Chuck was increasingly dependent on his steroid use, doubling his
dosage just to get his fever, gut pain, and energy
back to equilibrium. But Chuck knew this was not sustainable,
and he soon returned to the NIH, hoping they could
save him from the treatment loop. He was hopelessly stuck in.
Speaker 1 (22:52):
So went through the holidays just feeling bad, and then
I had an appointment at NIH for a heart MRI.
My heart function had just taken another nosedive, so they
weren't gonna let me leave. I was admitted at that point,
and that's when, you know, we knew about the my
(23:14):
carditis and the cardio myopathy, and they really had to
hit me with a couple of days of high steroids
just to try to get the heart to recover.
Speaker 4 (23:24):
What were your fears at that time.
Speaker 1 (23:26):
Well, at that time, it was more I'm gonna drop
over dead from a part attack.
Speaker 2 (23:33):
Ugh, I would just sit with cold rags on his head,
just trying to say, I just want the fever to break.
Speaker 5 (23:39):
I just want the fever to break.
Speaker 2 (23:41):
I didn't want to leave a side because I didn't
really I didn't want anything to happen and may not
be there.
Speaker 4 (23:49):
This would go on for almost three weeks before the
team at the NIH could finally get him stabilized and
bring his heart function closer to normal levels. So on
top of just the fear that you're gonna drop dead,
have there been other lingering impacts of that episode.
Speaker 1 (24:09):
That's really when I started losing physical abilities. It just
took a lot out of me. I lost a lot
of muscle mass. I felt a lot weaker as far
as what I could do.
Speaker 4 (24:24):
Just as Chuck was getting worse, Kassner and his team
at the NIH finally found a clue. It seemed the
pieces were starting to come together.
Speaker 3 (24:33):
What happened was a gradual realization. It was like peeling
an onion.
Speaker 1 (24:40):
You know.
Speaker 3 (24:40):
When we first found something, this gene that had a
mutation in at uba one was known to be so important.
You couldn't imagine that anyone could be alive and have
a mutation in that gene.
Speaker 4 (24:55):
The gene mutation on the X chromosome was found in
three minute aged men who were part of the fever study.
As the NIH team looked closer, they noticed all three
men also had little bubble like structures called vacuoles in
their bone marrow.
Speaker 3 (25:12):
We went back and looked up patients, my patients from
eight years ago that had these vacuoles, and sure enough,
when we did sequencing on them, they also had the
same mutations in this gene. And so emerging out of
the mist, you have this idea of what is this disease?
Speaker 4 (25:36):
These patients from the fever studies included Chuck Stoner.
Speaker 1 (25:41):
It almost was a shock at that point because you're
not waiting every morning to get up and hear this,
and then one morning it finally does happened.
Speaker 3 (25:49):
I'll never forget about it, you know, finding that gene
and the moment that we found that gene. And so
it was David Beck who did that. I know that
he was exhilarated when that happened, and I know that
Chuck was too.
Speaker 4 (26:05):
Castner and his colleague could finally give Chuck an explanation
for what was causing these symptoms going back over a decade.
At this point, all of the pain, the suffering, the
time spent hoping the fever would break, the nodules, the rashes,
the declining mobility, the trips to the er clinging to life,
all of that now had a name, a name created
(26:28):
by doctor Kasner and his team, Vexus.
Speaker 3 (26:32):
So Vexus is a disorder that's caused by somatic mutations
in this gene UBA one, in just the myloid subset
of cells in the blood. So just to unpack that
a little bit, V is for vacuoles. E is for
E one ligase, which is the UBA one gene. X
(26:54):
is for X link because the genes on the X
chromosome a auto inflammatory and S for somatics. So somatic
mutations means mutations that arise during the course of your life,
that you were not born with those mutations. The gene
UBA one happens to be a gene that's involved in
various markings of proteins in the cell. Some of the
(27:17):
patients that we now know have Vexus syndrome, in fact,
were labeled as having relapsing polychondritis, This inflammation of the
cartilage and the nose.
Speaker 1 (27:27):
In the year.
Speaker 3 (27:28):
Some of the patients had been labeled as having Sweet syndrome,
where you have pustules all over your body. Some of
them had been labeled as having a certain kind of
inflammation of the blood vessels called polyardoritis nodosa. But they
didn't have these diseases.
Speaker 1 (27:44):
They have vexus It was a relief just to be
able to put a name to the disease that I
had had for I guess eleven years. At this point,
I'm very grateful for the EDIH. Their dedication to finding
a cure is there, but also the personal commitment that
they've shown me.
Speaker 2 (28:05):
It was an email I think that he got and
it was like, Wow, there's really a name for this.
And at the beginning he was like one of five.
It's like, wow, we didn't hit the lottery, but got
something really rare going on here.
Speaker 4 (28:19):
Now knowing the root genetic cause of the disease, Chuck
has been able to get a lot of relief through
a hyper focused steroid regimen. Before the discovery of vexis,
his treatments were like throwing spaghetti against a wall and
hoping something would stick. Now, Chuck at least has two
options that are shown to both be effective against vexus
(28:40):
steroids or a bone marrow transplant.
Speaker 1 (28:45):
The fact that there was promise, either for me or
for the future, that this thing could be attacked a
little more directly, I mean, that was just the greatest
And since then, you know, it's good to be able
to tell somebody what you have.
Speaker 4 (29:00):
Even after decades discovering new diseases and helping countless people,
doctor Kassner still has that same urgent drive as when
he first started. He enjoys seeing all the patience he's treated,
but is constantly intrigued by the mysterious cases they still
have yet to solve. At the NIH, going all the
way back to your early career and that rebelliousness that
(29:24):
you had in terms of stubborn optimism, do you see
that as maybe a rebellious streak, renegade What gave you
that confidence and conviction?
Speaker 3 (29:37):
Well, you know, certainly it is a rebellious streak, there's
no question about that. As for what gave me that
confidence and conviction, well, I suppose that, you know, some
of it is just youthful naivete. You know that one
doesn't fully understand the hurdles that are there but it's
just that youthful persistence and optimism, and I must say
(30:02):
that I'm young at heart still at this time, I'm
willing to go after the next windmill that may be
out there in front of me.
Speaker 4 (30:14):
And one of the most poetic things about Chuck and
Tracy's story, the place that gave Chuck his life back
is the same place that gave Tracy life in the
first place.
Speaker 2 (30:25):
Years ago, my mom was involved in a fertility study
at NIH, and she was the last one in her
group to get pregnant, and I was the person of that.
So when that doctor referred Chuck to this program at NIH,
to me, those are all little like just pearls from
heaven and saying I'm going to get you through this.
(30:47):
I'm going to get you through this and just keep
following my path. That's like where my life started.
Speaker 4 (30:53):
I have I have goosebas me too. Me. It's amazing
after all these years, constant, selfless, constantly thinking of others,
trying not to be a burden, even when he is
in more pain than anyone could imagine. That is Chuck.
Vexus has taken so much from him, yet there still
(31:14):
remains a genuine and unrelenting sense of optimism. What do
you hope people take away from your story?
Speaker 1 (31:23):
Well, I hope that they see that there is hope.
We all may not get an answer to an undiagnosed disease,
and if we get an answer, we might not reap
the ultimate benefit of a cure, but being part of
that process can be something rewarding. Or even just dealing
(31:47):
with it in a proper way. To stay active, know
your life is still meaningful and there are still things
to do, even though you may not be doing which
you were prior to your disease.
Speaker 4 (32:01):
To find out more about Vexus or the National Institutes
of Health, visit NIH dot gov.
Speaker 1 (32:08):
My name is Chuck Stoner, and for eleven years I
struggled with a previously undiagnosed disease called Vexus.
Speaker 4 (32:21):
On the next symptomatic DROD goes from being a busy
young father, PhD student and community activist to barely being
able to get out of bed. As what began with
shortness of breath, a sore throat, and an inability to
keep food down spirals into a life threatening crisis.
Speaker 1 (32:39):
I started thinking can I fight this? Can I beat this?
Speaker 4 (32:43):
As this something that's going to just change my life completely?
Speaker 1 (32:46):
Are these my last days?
Speaker 4 (32:48):
Will Drowd find the diagnosis and relief he so desperately
needs before things get even worse? That's it for this
week's episode of Symptomatic. Thanks for listening. What did you
think of this week's episode? We would love to hear
from you. Send us your thoughts or share a medical
mystery of your own at Symptomatic at iHeartMedia dot com.
(33:12):
Symptomatic Medical Mystery Podcast is a production of Ruby Studio
from iHeartMedia. Our show is hosted by me Lauren breg Pacheco.
Executive producers are Matt Romano and myself. Our EP of
post production is James Foster. Our producers are Sierra Kaiser
and John Irwin. And this episode was researched by Diana Davis.
I'd come home, I'd sort of have that fluish feeling,
and then the next morning I'd be fine. So this
developed into a pattern where I was in the living
room sweating out a fever with tibuprofen, and then again
the next day, you'd be fine.
Speaker 2 (00:20):
He started getting nodules on his body, like bumps, and
he had been to so many different doctors. I just
felt like they were just throwing a dart at what
this could be.
Speaker 3 (00:32):
You couldn't imagine that anyone could be alive and have
a mutation in that gene, so something obviously was wrong.
Speaker 4 (00:48):
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 all Americans suffer from
some chronic illness, and many struggle for an accurate diagnosis.
(01:12):
These are their stories. A Lauren brit Pacheco and this
is symptomatic. A chemist by profession, Chuck Stonner has always
(01:36):
been a meticulous and strong figure for everyone in his life,
with a straightforward sense of pride in what his faith
and hard work is given him. Chuck is a through
and through family man, extremely proud of his two kids
and their growing lives.
Speaker 1 (01:52):
We have some big ones. They're now thirty and twenty seven,
and we have a granddaughter. Her I just babysat Wednesday,
which is quite an effort, but it was a lot
of fun. It's interesting. My daughter's a physical therapist like
my wife. My son's a chemist like I was. He
(02:15):
just started working so in a process of cutting that
final cord, which is quite enjoyable.
Speaker 2 (02:20):
He's very devoted to his family and to making sure
that we all.
Speaker 5 (02:25):
Have good values.
Speaker 4 (02:27):
That's Tracy Chuck's wife. She describes him as loving, kind
and her perfect partner.
Speaker 5 (02:34):
We've been so long together.
Speaker 2 (02:36):
I don't know how to be me without him. I
don't know how to be just Tracy without Chuck.
Speaker 4 (02:47):
Busy, growing a successful career and loving family, Chuck never
would have imagined that a mysterious disease would come along
and threaten all of it, a journey that would have
him going in and out of hospitals, even fighting to survive.
He didn't realize it at the time, but in hindsight,
it all started at a friendly softball game.
Speaker 1 (03:13):
In the spring or summer of two thousand and nine,
I decided to get on a softball team with some friends,
and I found myself like instantly pulling handstrings, like when
I would run to first base. I had some interesting
pains in my hips right around that time as well.
How old were you, I'd see two thousand and nine
(03:35):
would put me about forty.
Speaker 4 (03:36):
Five, So you probably initially just dismissed it as wear
and tear and getting older, Yeah, I think so. That
wasn't until other new symptoms started to pop up. Pulled
hamstrings led to pain in this palvis right around the
belt line. These pains would gradually fade, so they didn't
(03:58):
concern him much. Things changed when he started to get
fevers regularly.
Speaker 1 (04:04):
So during the day, I'd feel like I'm just getting sick.
I'd come home, I'd sort of have that fluish feeling,
and then the next morning I'd be fine. So this
developed into a pattern, and it really got into daily
fairly high fevers where I was in the living room
sweating out a fever with ibuprofen, and then again the
(04:27):
next day you'd be fine. Something obviously was wrong.
Speaker 2 (04:31):
He would fight through it, the fevers, and I could
tell that it was going to be a bad day,
but he would still I mean, if there was something
we had to do, he would still do it. He's
very methodical, and I think being a chemist help him
with that.
Speaker 4 (04:45):
This mysterious pattern was becoming Chuck's new normal, with fevers
peaking as high as one hundred and three. His primary
care physician tried many different medicines without any success, the
first signs of Chuck's long journey to come until Chuck
was prescribed a regimen of steroids.
Speaker 1 (05:06):
I remember that that was just instant relief. Yeah, I
felt good. I remember there were some big snowfalls that
winter and I was out shoveling snow like it was nothing.
So that worked, but a bunch of other medications did
not work.
Speaker 4 (05:22):
For now, Chuck has found some relief from the daily
fevers and pains, but he's no closer to understanding the
bizarre set of symptoms he's been living with. Little known
to Chuck, there is a doctor who will change his
life forever. Doctor Daniel Kastner has been working tirelessly for
years in the field of genetic research, a passion that
(05:44):
sprouted unusually from his early studies in philosophy. Doctor Castner
has become somewhat of a genetic sleuth of unknown diseases.
Speaker 3 (05:54):
It was a combination of being a little bit turned
off by the drudge, if you will, of being in
class eight hours a day, five days a week, just
cramming facts into your head, versus having some exciting new
things to understand and maybe even be a part of
figuring out. And at that time in the early nineteen
(06:18):
seventies was one of the most exciting times in immunology
because we were just beginning to understand how immunology works.
Speaker 4 (06:27):
Doctor Castner is currently the head of the Inflammatory Disease
Section at the National Institutes of Health or NIH, in Bethesda, Maryland,
as part of the US Department of Health and Human Services.
The NIH is the nation's medical research agency. Doctor Castner's
time there started with his fellowship back in the seventies.
Speaker 3 (06:51):
Early in my fellowship at the NIH, there was a
revolution that was happening in medicine, and that revolution was
the Human Genome Project. And what the Human Genome Project
allowed us to do was to comprehensively and in an
unbiased fashion, survey the whole human genome to try to
(07:14):
figure out what was the cause at least of a
genetic disease.
Speaker 4 (07:18):
Being on the front lines, doctor Kastner saw the potential
to revolutionize how doctors diagnose, categorize, and treat diseases. He hypothesized,
if you could find common genetic variants shared among people
with a certain set of symptoms, you could then create
a very targeted and effective way to treat them.
Speaker 3 (07:41):
The first disease where I really tried to use this
Human Genome Project approach in order to solve that disease
is a disease called familial Mediterranean fever, and it's a
relatively rare disease. It's somewhat common in Israel and Turkey
and our me, but the patients are plagued with recurrent fevers.
(08:05):
And so I had decided that I was going to
use that as sort of a test case. And there
were a lot of people who would say, oh, Dan,
why are you wasting your time with this rare disease
that's only found in certain corners of the world.
Speaker 4 (08:22):
The millial Mediterranean fever or FMF, was a potentially deadly
disease before Castner was able to find the genetic variant
responsible for causing it. Now it is more easily tested
for and treated even in young children, saving countless lives.
For doctor Casner personally, this entire journey of discovering new
(08:44):
diseases and then effective treatments for them became a driving purpose.
I've read some articles in which you referred to yourself
at various points in times as a Don Quixote, the
classic literary character prone to noble and and practical ideals. Yeah,
I would think that Sherlock Holmes would be more applicable.
Speaker 3 (09:05):
Yeah, well, you know, I suppose that there's an element
of both of those in my character. But I do
like to take on something that's a bit heretical, and
I love to, you know, at least sometimes show the
naysayers that they're wrong, you know. And there's nothing more satisfying,
(09:26):
at least in some cases than being able to do that.
Not that there's any personal animosity or whatever, but it's
just a challenge then.
Speaker 4 (09:34):
A challenge that would eventually intertwine Chuck's path with doctor Castner's.
By now, Chuck had repeatedly gone through his doctor steroid regimen,
but couldn't keep the constant fevers away. It's been two
years since the fever started, and they're continuing to get worse.
When do you remember having something stick out to you
(09:58):
where you thought something is wrong here?
Speaker 2 (10:01):
Yeah, I mean probably after he started getting nodules on
his body like bumps, and he had been to so
many different doctors, and I just felt like they were
just throwing a dart at what this could be and
trying different medications, and I really thought, could this be cancer?
Could this be you know, something you know more than
(10:24):
just a flu? Chuck?
Speaker 4 (10:27):
How was this impacting your daily life at this point?
Speaker 1 (10:30):
Well, it was going to work saying I know I'm
going to get a fever today, and then just basically
sticking it out until you get home and then and
then lay down and sweat it out. You know. I
didn't stop working until twenty eighteen, so there was quite
a bit of time in.
Speaker 4 (10:46):
There that must have been one really frustrating, but two
really exhausting. It was it was Chuck's rheumatologists ran every
test they could think of, and nothing came back pass
He was then transferred to Johns Hopkins Rheumatology in hopes
they would have more tools to give him answers.
Speaker 1 (11:10):
I didn't fit any particular float chart or perfect picture
of symptoms that matched the disease. You know, I just
got moved to Johns Hopkins. These guys are going to
be able to tell me what's going on and figure
things out. And then once you went there a few times,
you realize they were as confused as the rhumatologist locally
(11:34):
was well.
Speaker 4 (11:35):
So during this time period, how are your symptoms progressing
and what things are getting worse?
Speaker 1 (11:42):
The consistent symptom has been the fevers. Other symptoms have changed.
I started getting some pretty significant rashes on my body,
sometimes even looking like they were going to break open
and very big, and that that could have been on
my face, on my ears.
Speaker 4 (12:02):
Was it cystic like? What did it look like? And
was it painful?
Speaker 1 (12:07):
It was not painful, but they would get just very
large red blotches and then they would sort of heal
from the center out, so you'd see rings at the end.
I'd get them on like my ear lobes, and once
or twice on the bridge of my nose, and there
(12:28):
was a fear that these things are going to break open.
Speaker 4 (12:31):
I can't imagine the anxiety of the unknown continuing for
that long.
Speaker 1 (12:38):
Yeah, it's the balance of the anxiety of the unknown
and the happiness of not being certain things. So when
you're testing for certain kinds of asculitis and they're saying
you don't have it, that's a good thing. So that
gives you a little bit of relief and gets here
with the frustration of not knowing for at least a while.
Speaker 4 (12:58):
The Johns Hopkins stuff are at a loss and Chuck
is stuck in a vicious cycle. He has a big
flare up, goes on another round of steroids. Things get
normal for a little while, and so goes the cycle
on and on. Though their faith is a source of hope,
Chuck and Tracy are starting to become desperate for answers.
(13:20):
Chuck is referred to another hospital, this time to take
part in a study of undiagnosed fever syndromes at the NIH,
where doctor Casner and other physician researchers have already been
revolutionizing medicine using genomics. After he discovered the genetic variants
(13:40):
that cause FMF, Casner continued to use genomics to pinpoint
the source of other genetic diseases. The thrill of scientific
discovery and seeing how that work changes people's lives kept
up his determined energy. After solving several other recurrent fever
syndrome mysteries. Casner has an another revolutionary idea. He proposed
(14:03):
an entirely new way of categorizing these types of diseases.
You then would later propose the idea of grouping a
subset of autoimmune diseases into their own distinct group called
auto inflammatory disease.
Speaker 3 (14:20):
Well, what was distinctive about these patients was that they
had recurrent fevers, they had very very severe inflammation, but
they didn't have auto antibodies, or they didn't have andigen
specific T cells. It's something that you see in autoimmune diseases.
And then shortly thereafter, I guess the philosopher and me
(14:40):
coming out, we wrote a paper in which we imagined
all of the diseases in the medical textbook and which
of them might fall into the category of auto inflammatory
disease and even categorize them. And then and this was
just a real lucky time, it turned out that a
year later, couple of the diseases that we had proposed
(15:02):
that many people scoffed at, is they're just having fun
or whatever with things. It turned out that those two diseases,
the genetic cause of them was found, and it turned
out to share a common domain and the gene with
the familial Mediterranean fever gene.
Speaker 4 (15:21):
Grouping the diseases in this way made it possible for
Cassner and his team to start assembling the bigger picture
of how all these fever syndromes were connected. This made
room for an entirely new way of trying out effective treatments,
in particular for one very deadly disease that targeted children,
and at least one.
Speaker 3 (15:41):
Of those diseases is a disease where kids that have
it are born with fevers and rashes and inflammation of
the lining around the brain. They go on to develop blindness, deafness,
intellectual disability, and some of them die before reaching adulthood.
Speaker 4 (15:58):
Finding the genetics then allowed a biotech company to develop
an inhibitor for what was triggering this deadly disease.
Speaker 3 (16:07):
And by giving them an inhibitor of this interluken I substance,
it totally turns off the inflammation and these kids are
now what we just saw one of them recently about
a month ago at a meeting who's now a biochemistry
graduate student.
Speaker 4 (16:22):
Wow Castener's unique perspective on genetic variants and the diseases
they caused continued to change people's lives with every new discovery.
He kept embracing different ways of approaching problems, and that
made him receptive to a new way of trying to
discover genetic diseases.
Speaker 3 (16:42):
First of all, I do have to give credit to
the fellow in my lab who was really the proponent
of taking this view. And so David Beck, who's the
name of the fellow, just felt that we were too slow,
and so he came up with this idea of genotype first.
Speaker 4 (17:00):
This approach started by finding a common genetic variant and
then seeing what symptoms that caused, going from cause to effect.
A subtle but life altering shift and perspective. But it
didn't come without its challenges.
Speaker 3 (17:17):
It is like looking for a needle within a needle,
and certainly it was a huge undertaking, no question about that.
For a while we kind of wondered whether it was
going to be successful. Theoretically it should work, so you know,
we just have to do it until you know, finally,
Is that.
Speaker 4 (17:35):
What kept you going, this kind of stubborn optimism.
Speaker 3 (17:39):
Yeah, you know, that's see the Don Quixote coming out.
Speaker 4 (17:46):
Doctor cassner By now had a decades long track record
of methodically searching and testing for the specific gene variants
causing fever syndrome. Similar to Chucks, he recategorized how doctors
view auto inflammatory diseases, trusting his instincts to approach the
diagnosis journey in new ways. He set up clinical research
(18:08):
at the NIH with his learnings at the forefront. This
is where he and Chuck would soon cross paths. So
in twenty twelve you are linked with the National Institutes
of Health and doctor Cassner, right, tell me the first
time you went there and were you hopeful or were
you just now what?
Speaker 1 (18:30):
So? I was pretty excited about that. It was that
you're going to the place that knows about these fever syndromes.
Doctor Casner, of course was probably the first person, or
one of the first few people I met there. Although
I was in the part of the tested group that
did not show positive for any of those syndromes. I
think it was about half that could be diagnosed and
(18:52):
half could not, and I was in it could not.
Speaker 3 (18:56):
And at that time he was one of a number
of patients are referred to us with unexplained fevers, and
so at the time that we saw him, he was
in his mid forties and had developed just seemingly out
of the blue, unexplained fevers and elevations of various blood
studies that indicated that there was inflammation going on in
(19:20):
his body. But actually at that time, there weren't very
many clues in terms of what was actually the basis
of that inflammation.
Speaker 2 (19:28):
So each time you get that like hope, Oh, this
doctor's going to be it, this doctor's going to be
the one that's going to figure it out, and they
see you a couple times and then you just know
it's They didn't really have anything else to offer, you know,
just try different medications, and you sort of feel like
(19:49):
they're spinning a wheel.
Speaker 4 (19:51):
After six years of symptoms and countless tests, there's little
left for Chuck to hold on to besides hope. And
though the nia now offers him a sliver of optimism
for finding answers, a terrifying flare up will test Chuck's
resilience in this search and possibly cost him his life.
Speaker 1 (20:13):
It was a life or death concern because this thing
had gone full force at the heart.
Speaker 4 (20:21):
We'll be right back with Symptomatic a Medical Mystery podcast.
Now back to Symptomatic a Medical Mystery podcast. It's been
(20:45):
almost a decade since Chuck first started showing symptoms of
a mysterious illness that was slowly chipping away at his
quality of life. It started with fevers and muscle pain
and progressed to include nodules and rashes, all of for
his body. Nine years of bouncing between doctors with little
to know answers as to what was causing this, but
(21:08):
Chuck was now being treated by a team at the
National Institutes of Health, including doctor Castner, a self described
Don Quixote figure, who gave Chuck hope he could finally
get some answers as to what had been plaguing him.
But even as research at the NIH forged ahead, Chuck
had a flare up that would take him to the
(21:29):
brink of death.
Speaker 5 (21:38):
We were in the mountains at his parents' house.
Speaker 2 (21:41):
We were there alone, and there was a snowstorm.
Speaker 5 (21:45):
He was having this pain in his abdomen.
Speaker 2 (21:48):
So another thing that Chuck would have as the disease
progressed was bloating in his stomach, and he.
Speaker 5 (21:56):
Said, I think I need to go to the hospital.
So we had to call.
Speaker 2 (21:59):
Nine one one Hello. The reception was terrible. I remember
having a difficulty getting even through to nine to one
one Hello, and thank god I was able to get
them there.
Speaker 1 (22:15):
So went to the emergency room and my heart function
was quite low, but not knowing what it was. You know,
is this something that's going to you know, is this
some kind of cancer that's going to take your life.
Speaker 4 (22:31):
Chuck was increasingly dependent on his steroid use, doubling his
dosage just to get his fever, gut pain, and energy
back to equilibrium. But Chuck knew this was not sustainable,
and he soon returned to the NIH, hoping they could
save him from the treatment loop. He was hopelessly stuck in.
Speaker 1 (22:52):
So went through the holidays just feeling bad, and then
I had an appointment at NIH for a heart MRI.
My heart function had just taken another nosedive, so they
weren't gonna let me leave. I was admitted at that point,
and that's when, you know, we knew about the my
(23:14):
carditis and the cardio myopathy, and they really had to
hit me with a couple of days of high steroids
just to try to get the heart to recover.
Speaker 4 (23:24):
What were your fears at that time.
Speaker 1 (23:26):
Well, at that time, it was more I'm gonna drop
over dead from a part attack.
Speaker 2 (23:33):
Ugh, I would just sit with cold rags on his head,
just trying to say, I just want the fever to break.
Speaker 5 (23:39):
I just want the fever to break.
Speaker 2 (23:41):
I didn't want to leave a side because I didn't
really I didn't want anything to happen and may not
be there.
Speaker 4 (23:49):
This would go on for almost three weeks before the
team at the NIH could finally get him stabilized and
bring his heart function closer to normal levels. So on
top of just the fear that you're gonna drop dead,
have there been other lingering impacts of that episode.
Speaker 1 (24:09):
That's really when I started losing physical abilities. It just
took a lot out of me. I lost a lot
of muscle mass. I felt a lot weaker as far
as what I could do.
Speaker 4 (24:24):
Just as Chuck was getting worse, Kassner and his team
at the NIH finally found a clue. It seemed the
pieces were starting to come together.
Speaker 3 (24:33):
What happened was a gradual realization. It was like peeling
an onion.
Speaker 1 (24:40):
You know.
Speaker 3 (24:40):
When we first found something, this gene that had a
mutation in at uba one was known to be so important.
You couldn't imagine that anyone could be alive and have
a mutation in that gene.
Speaker 4 (24:55):
The gene mutation on the X chromosome was found in
three minute aged men who were part of the fever study.
As the NIH team looked closer, they noticed all three
men also had little bubble like structures called vacuoles in
their bone marrow.
Speaker 3 (25:12):
We went back and looked up patients, my patients from
eight years ago that had these vacuoles, and sure enough,
when we did sequencing on them, they also had the
same mutations in this gene. And so emerging out of
the mist, you have this idea of what is this disease?
Speaker 4 (25:36):
These patients from the fever studies included Chuck Stoner.
Speaker 1 (25:41):
It almost was a shock at that point because you're
not waiting every morning to get up and hear this,
and then one morning it finally does happened.
Speaker 3 (25:49):
I'll never forget about it, you know, finding that gene
and the moment that we found that gene. And so
it was David Beck who did that. I know that
he was exhilarated when that happened, and I know that
Chuck was too.
Speaker 4 (26:05):
Castner and his colleague could finally give Chuck an explanation
for what was causing these symptoms going back over a decade.
At this point, all of the pain, the suffering, the
time spent hoping the fever would break, the nodules, the rashes,
the declining mobility, the trips to the er clinging to life,
all of that now had a name, a name created
(26:28):
by doctor Kasner and his team, Vexus.
Speaker 3 (26:32):
So Vexus is a disorder that's caused by somatic mutations
in this gene UBA one, in just the myloid subset
of cells in the blood. So just to unpack that
a little bit, V is for vacuoles. E is for
E one ligase, which is the UBA one gene. X
(26:54):
is for X link because the genes on the X
chromosome a auto inflammatory and S for somatics. So somatic
mutations means mutations that arise during the course of your life,
that you were not born with those mutations. The gene
UBA one happens to be a gene that's involved in
various markings of proteins in the cell. Some of the
(27:17):
patients that we now know have Vexus syndrome, in fact,
were labeled as having relapsing polychondritis, This inflammation of the
cartilage and the nose.
Speaker 1 (27:27):
In the year.
Speaker 3 (27:28):
Some of the patients had been labeled as having Sweet syndrome,
where you have pustules all over your body. Some of
them had been labeled as having a certain kind of
inflammation of the blood vessels called polyardoritis nodosa. But they
didn't have these diseases.
Speaker 1 (27:44):
They have vexus It was a relief just to be
able to put a name to the disease that I
had had for I guess eleven years. At this point,
I'm very grateful for the EDIH. Their dedication to finding
a cure is there, but also the personal commitment that
they've shown me.
Speaker 2 (28:05):
It was an email I think that he got and
it was like, Wow, there's really a name for this.
And at the beginning he was like one of five.
It's like, wow, we didn't hit the lottery, but got
something really rare going on here.
Speaker 4 (28:19):
Now knowing the root genetic cause of the disease, Chuck
has been able to get a lot of relief through
a hyper focused steroid regimen. Before the discovery of vexis,
his treatments were like throwing spaghetti against a wall and
hoping something would stick. Now, Chuck at least has two
options that are shown to both be effective against vexus
(28:40):
steroids or a bone marrow transplant.
Speaker 1 (28:45):
The fact that there was promise, either for me or
for the future, that this thing could be attacked a
little more directly, I mean, that was just the greatest
And since then, you know, it's good to be able
to tell somebody what you have.
Speaker 4 (29:00):
Even after decades discovering new diseases and helping countless people,
doctor Kassner still has that same urgent drive as when
he first started. He enjoys seeing all the patience he's treated,
but is constantly intrigued by the mysterious cases they still
have yet to solve. At the NIH, going all the
way back to your early career and that rebelliousness that
(29:24):
you had in terms of stubborn optimism, do you see
that as maybe a rebellious streak, renegade What gave you
that confidence and conviction?
Speaker 3 (29:37):
Well, you know, certainly it is a rebellious streak, there's
no question about that. As for what gave me that
confidence and conviction, well, I suppose that, you know, some
of it is just youthful naivete. You know that one
doesn't fully understand the hurdles that are there but it's
just that youthful persistence and optimism, and I must say
(30:02):
that I'm young at heart still at this time, I'm
willing to go after the next windmill that may be
out there in front of me.
Speaker 4 (30:14):
And one of the most poetic things about Chuck and
Tracy's story, the place that gave Chuck his life back
is the same place that gave Tracy life in the
first place.
Speaker 2 (30:25):
Years ago, my mom was involved in a fertility study
at NIH, and she was the last one in her
group to get pregnant, and I was the person of that.
So when that doctor referred Chuck to this program at NIH,
to me, those are all little like just pearls from
heaven and saying I'm going to get you through this.
(30:47):
I'm going to get you through this and just keep
following my path. That's like where my life started.
Speaker 4 (30:53):
I have I have goosebas me too. Me. It's amazing
after all these years, constant, selfless, constantly thinking of others,
trying not to be a burden, even when he is
in more pain than anyone could imagine. That is Chuck.
Vexus has taken so much from him, yet there still
(31:14):
remains a genuine and unrelenting sense of optimism. What do
you hope people take away from your story?
Speaker 1 (31:23):
Well, I hope that they see that there is hope.
We all may not get an answer to an undiagnosed disease,
and if we get an answer, we might not reap
the ultimate benefit of a cure, but being part of
that process can be something rewarding. Or even just dealing
(31:47):
with it in a proper way. To stay active, know
your life is still meaningful and there are still things
to do, even though you may not be doing which
you were prior to your disease.
Speaker 4 (32:01):
To find out more about Vexus or the National Institutes
of Health, visit NIH dot gov.
Speaker 1 (32:08):
My name is Chuck Stoner, and for eleven years I
struggled with a previously undiagnosed disease called Vexus.
Speaker 4 (32:21):
On the next symptomatic DROD goes from being a busy
young father, PhD student and community activist to barely being
able to get out of bed. As what began with
shortness of breath, a sore throat, and an inability to
keep food down spirals into a life threatening crisis.
Speaker 1 (32:39):
I started thinking can I fight this? Can I beat this?
Speaker 4 (32:43):
As this something that's going to just change my life completely?
Speaker 1 (32:46):
Are these my last days?
Speaker 4 (32:48):
Will Drowd find the diagnosis and relief he so desperately
needs before things get even worse? That's it for this
week's episode of Symptomatic. Thanks for listening. What did you
think of this week's episode? We would love to hear
from you. Send us your thoughts or share a medical
mystery of your own at Symptomatic at iHeartMedia dot com.
(33:12):
Symptomatic Medical Mystery Podcast is a production of Ruby Studio
from iHeartMedia. Our show is hosted by me Lauren breg Pacheco.
Executive producers are Matt Romano and myself. Our EP of
post production is James Foster. Our producers are Sierra Kaiser
and John Irwin. And this episode was researched by Diana Davis.
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