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