Speaker 1: It took a couple of years until more symptoms started.
Speaker 1: I looked back at pictures of me now, and it's
Speaker 1: hard to even recognize myself.
Speaker 2: She was ready to get the answers to continue to
Speaker 2: go back and live a good quality life.
Speaker 3: She had that surgery, and I was terrified of leaving
Speaker 3: her alone in there. I've never seen her in such
Speaker 3: debilitating pain. I just I didn't want to lose her.
Speaker 1: And I looked up and I saw my neurosurgeon, and
Speaker 1: he's asking me the questions like you see on TV
Speaker 1: when you know something really bad happen.
Speaker 4: Do you know your name? Do you know what year
Speaker 4: it is? And do you know who's the president?
Speaker 5: How terrifying would it be to fight an unknown enemy,
Speaker 5: one you didn't recognize and didn't see coming. What if
Speaker 5: that enemy was coming from within a disease that even
Speaker 5: doctors couldn't identify. Nearly half of all Americans suffer from
Speaker 5: some chronic illness, and many struggle for an accurate diagnosis.
Speaker 5: These are their stories. And Lauren Brave Pacheco and this
Speaker 5: is symptomatic. You immediately notice Kelly Dubois intelligence, strive, and
Speaker 5: analytical nature. It's clear she is not one to give
Speaker 5: up easily. These very traits have helped your navigate some
Speaker 5: of the most challenging moments in her life. Tell me
Speaker 5: a little bit about you. What are your passions? Anybody
Speaker 5: who knows you, what would they say you love?
Speaker 1: I often think about the question of what did you
Speaker 1: want to be when you grow up? And I don't
Speaker 1: know what I wanted to be, other than I know
Speaker 1: I wanted to be a mom. I wanted a career,
Speaker 1: and I wanted to be intrigued with a career and
Speaker 1: use my brain a ton because I appreciate and enjoying that.
Speaker 1: But the one thing I wanted to be was a mom.
Speaker 5: Kelly has achieved that goal alongside her husband Chuck, in
Speaker 5: a relationship founded on countless shared connections.
Speaker 3: We're both techies, lots of gardening in our yard and
Speaker 3: lots of picture taking things like that. She's very smart,
Speaker 3: pretty driven. She likes things to be solved, she likes
Speaker 3: definitive answers, and she's probably one of the most caring
Speaker 3: people I know as well.
Speaker 5: Kelly and Chuck share a blended family and have been
Speaker 5: married for over a decade, cultivating a life rich in
Speaker 5: love and mutual support. However, their lives soon took an
Speaker 5: unexpected turn, testing their young family in ways they never imagined. So,
Speaker 5: just in terms of your health challenges looking back now,
Speaker 5: is there a time where you specifically remember a symptom
Speaker 5: manifesting itself that seemed unusual.
Speaker 1: I was actually thinking you would ask me this, because
Speaker 1: that was very healthy my entire life up until this happened.
Speaker 1: But when I look back, when I was sixteen, I
Speaker 1: started getting migraine headaches, and they're a thing in our family.
Speaker 1: My brother has them, my mother has them. And I
Speaker 1: would be taking different medications and none of them really worked.
Speaker 1: And I was told, take one pill. If you still
Speaker 1: have the headache coming on half.
Speaker 4: Hour later, take the other one.
Speaker 1: And I was awake for two days with a headache
Speaker 1: or they would.
Speaker 4: Knock me out and I would sleep.
Speaker 1: I remember one year, freshman year in college, I was
Speaker 1: put on a new med to help try to battle
Speaker 1: my migraines and I was just sleep being constantly. So
Speaker 1: I contacted my doctor. I'm like, this is not working.
Speaker 1: I can't live like this.
Speaker 5: That's fascinating. So their clues as early as sixteen and
Speaker 5: nineteen as to what would await you in your adult
Speaker 5: health challenges.
Speaker 1: Yeah, it's very interesting hindsight, you know, twenty twenty.
Speaker 5: Always what Kelly didn't realize her reaction to come in
Speaker 5: migraine medication was an early warning sign of the challenges ahead.
Speaker 5: At the time, she brushed it off, But several years later,
Speaker 5: during her first pregnancy, new symptoms began to surface. When
Speaker 5: is the next time that something happens to you physically
Speaker 5: that you realize something is really a mess.
Speaker 1: So I'm about thirty two. I'd had Johna and Rachel,
Speaker 1: and I started having heartburn. And I actually never had
Speaker 1: heartburn until I was pregnant. I didn't even know what
Speaker 1: it was. Andna ends up had a heidelhernia. So the
Speaker 1: sphincter ends up failing at the base of I think
Speaker 1: the esophagus, and part of the stomach comes up. Then
Speaker 1: you have stomach acid coming up into your esophagus.
Speaker 3: She had a lot of morning sickness, so throwing up,
Speaker 3: I had to hold her hair out of the toilet
Speaker 3: and the usual uh husbandly things. And I mean I
Speaker 3: think she got put on bed rest for a little
Speaker 3: while as well, all things considered. She's a trooper.
Speaker 1: So I talked to my PCP and he prescribed a
Speaker 1: proton pump inhibitor because at that time you couldn't get
Speaker 1: them over the counter.
Speaker 5: A proton pump inhibitor reduces stomach acid production by blocking
Speaker 5: the enzyme responsible for acid release, helping to relieve conditions
Speaker 5: like heartburn and acid reflux.
Speaker 1: I almost immediately start gaining weight, like ten pounds a
Speaker 1: month weight, and I go to talk to my doctors.
Speaker 1: I'm like, there's something wrong, like I shouldn't be gaining
Speaker 1: weight this quickly, and they're like, well, we'll test your
Speaker 1: thyroid and stuff like that. They tested other hormone and
Speaker 1: they were like, well, you're about thirty two thirty three
Speaker 1: now you just had kids.
Speaker 4: It just happens women gain weight.
Speaker 1: They're like, your metabolism slows down, and I'm like, well
Speaker 1: it shouldn't come too a screeching hull.
Speaker 4: I was buying new pants every month.
Speaker 5: How did it impact her mindset and her self esteem?
Speaker 3: She started not wanting to have her pictures taken. Even
Speaker 3: me just taking a quick snap of her, She's like,
Speaker 3: you got to delete that, and she just didn't want
Speaker 3: to remember those moments.
Speaker 1: I look back at pictures of me now and I
Speaker 1: don't it's hard to like even recognize myself. And I
Speaker 1: look at pictures of my fortieth birthday because I don't
Speaker 1: remember it, and I just look miserable. I could tell
Speaker 1: I was just I was in so much pain, and
Speaker 1: then all these symptoms built up, and it's just so
Speaker 1: unwell feeling. It's almost like I was a different person.
Speaker 5: So you're trapped within your own body basically.
Speaker 1: That's a perfect way to explain it. I was like
Speaker 1: in prison.
Speaker 5: Kelly's rapid weight gain began in her early thirties and
Speaker 5: continued into her forties. Understandably, it didn't take long for
Speaker 5: it to affect her mental well being, leaving her confused
Speaker 5: and frustrated. And just when you thought that things couldn't
Speaker 5: get any worse, you start manifesting another physical symptom.
Speaker 1: Yeah, I remember. It was February two thousand and seven.
Speaker 1: I was sitting in my office at work, and I
Speaker 1: live in upstate New York. It's cold and snowy here.
Speaker 1: It's really bad in January and February, and I'm sitting
Speaker 1: in my office and I have sweat pouring down from
Speaker 1: the top of my head, like I am so hot,
Speaker 1: and I am just profusely sweating for no reason. Now
Speaker 1: I'm talking like running down my face, running down through
Speaker 1: my hair. I'd have to wear extra clothes underneath my
Speaker 1: work clothes to absorb the sweat. It was bizarre, and
Speaker 1: I put up with it until like June, and then
Speaker 1: I contacted my PCP and said, this is a normal.
Speaker 5: What did you think? It was initially early onset of menopause.
Speaker 1: So he's like, let's see if you have a pituitary tumor,
Speaker 1: we'll give you an MRI because they was thinking maybe
Speaker 1: it was an endocrine thing with the weight increase and
Speaker 1: the sweating and stuff like that. So I'm like, okay,
Speaker 1: we'll go for it. I'm the type of person I
Speaker 1: always want to figure out what's wrong with me because
Speaker 1: I want to fix it because I don't want to
Speaker 1: feel that way anymore.
Speaker 5: And so they decided to test for pituitary issue YEP,
Speaker 5: and what do they uncover?
Speaker 1: What they found in the radiology report was a very
Speaker 1: small three to four millimeter tumor. They thought, so, your
Speaker 1: peituitary glands about the size of a pee. And they
Speaker 1: were thinking that they found a tumor on the anterior
Speaker 1: on the front of my pituitary gland, so.
Speaker 3: They recommended removal of that, and I mean we had
Speaker 3: quite a bit of hope that that might be the
Speaker 3: right path.
Speaker 1: I am visited with another endochronologist who was a partner
Speaker 1: at a pituitary tumor clinic where I live, and met
Speaker 1: with a neurosurgeon as well, and I did have higher
Speaker 1: growth hormone levels. And I'm getting sicker and sicker over this.
Speaker 1: Another two year span, I was finally diagnosed with a
Speaker 1: rare endocrine condition called acromegaly.
Speaker 5: And will you, just, in Layman's term, explain to me
Speaker 5: what that is.
Speaker 1: It's called gigantism in the Princess Bride, the kind giant
Speaker 1: he had in real life, gigantism. And it's a condition where,
Speaker 1: depending on when it happens in your life, you can
Speaker 1: get extraordinarily tall. When it happens and you're older, it
Speaker 1: produces enough hormones where you do have hyperhydrosis, You do
Speaker 1: gain weight, your hands, your feet, and your head can
Speaker 1: grow a little bigger, but your rest of your body
Speaker 1: won't get super tall if you're older. What it happens
Speaker 1: body wide pain, migraine, stuff like that.
Speaker 5: Did you get any solace initially from that.
Speaker 6: Diagnosis, Yeah, It's finally like the enemy had a name, yeah,
Speaker 6: and we know what's wrong with me, and finally I
Speaker 6: can get some treatment.
Speaker 4: Acromaglia, I believe is a one in one million diagnosis.
Speaker 5: What was the treatment and how did you respond?
Speaker 1: The first response is actually brain surgery.
Speaker 5: After about a decade of unexplained symptoms, Kelly finally felt
Speaker 5: like she had some answers, but the solution would pose
Speaker 5: new questions. The doctors plan to remove her pituitary gland,
Speaker 5: a small piece sized gland located at the base of
Speaker 5: the brain that produces several important hormones. This would reduce
Speaker 5: the amount of growth hormone in her body, hopefully bringing
Speaker 5: her some relief. Kelly, I'm already just thinking of you
Speaker 5: as a young mother with a career, basically bursting out
Speaker 5: of your clothing and then feeling like you can be
Speaker 5: drenched in your own sweat at any given point and
Speaker 5: not knowing what's happening. How difficult was that for you
Speaker 5: to navigate on a daily basis?
Speaker 1: Extraordinarily because one of the symptoms I was developing was
Speaker 1: also brain fog and inability to think clearly. And I'm
Speaker 1: just trying my best, and I have a wonderful husband
Speaker 1: who helps with my kids. Very fortunate, thank God. But
Speaker 1: I remember one morning when I wasn't feeling well and
Speaker 1: I must have taken the day off because I was sick,
Speaker 1: and Chuck brought the girls to see me, and they
Speaker 1: were they were in preschool daycare type of age, and
Speaker 1: they both ran up and gave me their stuffed animals
Speaker 1: so that I had someone to stay with me while
Speaker 1: they were gone at school all day. And I thought,
Speaker 1: how wonderful it is that I have kids who are
Speaker 1: so little yet so incredibly compassionate. But I'm so mad
Speaker 1: that we're not figuring this out, because they shouldn't have
Speaker 1: to be in that position at this age to worry
Speaker 1: about mommy while they're at preschool.
Speaker 5: Yeah, because you feel like you should be the caregiver.
Speaker 1: Yeah, I should be taking care of them, and it's
Speaker 1: the opposite. And they're not even five years old.
Speaker 3: It's a little tough with the girls, not only because
Speaker 3: I mean she just generally, whether she's in pain or
Speaker 3: just always a little uncomfortable. I mean it made it
Speaker 3: so she couldn't like play with them on the floor
Speaker 3: or anything like that for an extended period of time.
Speaker 3: She didn't toss them around or go for walks as
Speaker 3: much as she really wanted.
Speaker 5: Before the surgery, Kelly took a glucose tolerance test, which
Speaker 5: revealed an unexpected twist she didn't actually have acromegalie, leaving
Speaker 5: the mystery of her condition unsolved. Despite this, doctors decide
Speaker 5: to move forward with the surgery to address the risks
Speaker 5: of her growth hormone levels causing an enlarged heart or
Speaker 5: organ failure. And what did the surgery entail? How invasive
Speaker 5: was it?
Speaker 1: So what they do is your pituitary gland is kind
Speaker 1: of like in the middle of your brain, hanging down
Speaker 1: from I'm going to call it a little dongle, and it's,
Speaker 1: like I said, the size of a p So they
Speaker 1: went in through my right nostril, removed some boning cartilage
Speaker 1: from my skull, and they they cut to open like
Speaker 1: there's a membrane around the pituitary gland, and they kind
Speaker 1: of like vacuum out what they believe is tumor material
Speaker 1: and then they they back out and the goal is
Speaker 1: to go home.
Speaker 4: The next day.
Speaker 1: I had a five day long spinal fluid leak, and
Speaker 1: after the surgery, I did not wake up in the
Speaker 1: timeframe that they thought I would And I remember waking
Speaker 1: up in my room and the person standing above me
Speaker 1: was actually my neural surgeon, and I was in the
Speaker 1: brain I see you. And I remember looking out the
Speaker 1: window and thinking, why is it getting dark outside? Because
Speaker 1: my surgery was again the first thing in the morning,
Speaker 1: like six point thirty in the morning. And I looked
Speaker 1: up and I saw my neural surgeon and he's asking
Speaker 1: me the questions like you see on TV when you
Speaker 1: know something really bad happened. Do you know your name?
Speaker 1: Do you know what year it is? And do you
Speaker 1: know who's the president? I remember thinking something bad happened.
Speaker 5: May I ask you, as her husband, what that was
Speaker 5: like for you being on the other side of that
Speaker 5: hospital door.
Speaker 3: Yeah, that was painful. I'd like to say that's where
Speaker 3: all my gray hair came from, but that's probably not
Speaker 3: true at all. She was in excruciating pain the whole
Speaker 3: time she was there, because every time she moved around
Speaker 3: her her head felt like it was gonna I don't
Speaker 3: know if explode is the right word it Maybe imploded
Speaker 3: is a better word. I was terrified of leaving her
Speaker 3: alone in there, and I just I didn't want to
Speaker 3: lose her.
Speaker 4: I am so fortunate that someone you know, what are
Speaker 4: the lines in your wedding? It's sickness and in health.
Speaker 1: Let me tell you, I'm so lucky I had someone
Speaker 1: who was so willing to adhere to the you know,
Speaker 1: but not because he had to, but because he wants to.
Speaker 5: After Kelly's recovery and discharge, she thought the worst was
Speaker 5: behind her, but the very next day she was back
Speaker 5: in the hospital, this time with kidney stones. To make
Speaker 5: matters worse, cat scans from her surgery revealed a breast mass,
Speaker 5: sending her into the operating room again a week later. Thankfully,
Speaker 5: it was benign. As she recovered from these setbacks, she
Speaker 5: began to feel a small sense of relief. Unfortunately, that
Speaker 5: relief didn't last long time.
Speaker 4: And went on though.
Speaker 1: I started gating weight again and having the symptoms come back.
Speaker 1: Hyperhydrosis got worse, the flushing got worse, the body wide pain.
Speaker 1: At one point, I'd taken a shower and the top
Speaker 1: layer of my scalp underneath my hair, the whole thing
Speaker 1: peeled off, and I was having this odor come out
Speaker 1: of my body. I'd smell like chemicals. It was bizarre,
Speaker 1: and if I would drink a decaf coffee. I would
Speaker 1: smell a campfire smoke, and I would finding my lymph
Speaker 1: nodes in my armpits swelling up. And I was just
Speaker 1: getting bigger and bigger. I was almost two hundred pounds.
Speaker 1: What kept you going? My kids and my husband, and
Speaker 1: like my family, I can't imagine not being here for them.
Speaker 1: So I remember one time in February twenty fifteen, I'm
Speaker 1: laying in bed, It's like seven o'clock at night, and
Speaker 1: I hear my family in the living room watching TV.
Speaker 1: I think they were watching, you know, the game shows
Speaker 1: or whatever, and I'm like, I had this number running
Speaker 1: through my head over and over again, digitous one, two three,
Speaker 1: you know, four, five, six seventy nine, not that number,
Speaker 1: but over and over and over.
Speaker 4: Like five minutes, like what is that? What is that?
Speaker 4: What is that? Why do I know that? I don't
Speaker 4: know what that number is? What is it?
Speaker 1: And then it occurred to me it was my own
Speaker 1: social Security number that I've known since I was in
Speaker 1: eighth grade. And I didn't know what it was. I
Speaker 1: knew it, but I'm like, oh, something's really wrong with me.
Speaker 3: She was always kind of inn a little bit of
Speaker 3: a haze. She wasn't quite as chris and witty as
Speaker 3: she used to be. Then it takes her a longer
Speaker 3: road to get the answers for most things.
Speaker 5: Post surgery, These cognitive issues piled onto years of physical symptoms.
Speaker 5: Once again, Kelly turned to her doctors for help.
Speaker 1: And that's the thing is when you are chronically ill
Speaker 1: in trying to figure out what's wrong with you, the
Speaker 1: stress of going to an appointment, the nervousness of meeting
Speaker 1: a new doctor, and then finding out that that's not
Speaker 1: what's wrong with you, over and over and over again.
Speaker 1: It's like constantly getting bamboozled. After another doctor appointment, they
Speaker 1: told me they didn't know what was wrong with me.
Speaker 1: And I locked myself in my bedroom because it was
Speaker 1: August and my kids were still home from school because
Speaker 1: they've already worried enough about me. And I did one
Speaker 1: thing I'd never done before, and I don't even know why.
Speaker 1: I got really mad. And I wasn't mad at my doctor,
Speaker 1: because she's wonderful. I was mad at the system where
Speaker 1: we don't easily figure out what's wrong with people.
Speaker 4: And I don't know. I felt angry.
Speaker 5: I got really, really mad despite all she'd endured, Kelly
Speaker 5: refused to let her struggles define her. After multiple surgeries
Speaker 5: and relentless symptoms, she knew it was time to take
Speaker 5: the next steps into her own hands. Determined to find
Speaker 5: concrete answers, Kelly knew there was one place that could
Speaker 5: offer her hope, the Mayo Clinic.
Speaker 1: I was getting to the point where I'm like, there
Speaker 1: is something else wrong with me.
Speaker 5: We'll be right back with Symptomatic, a medical mystery podcast.
Speaker 5: Now back to Symptomatic, a medical mystery podcast. For Kelly Dubois,
Speaker 5: it all began with a diagnosis of a hiatal hernia
Speaker 5: and sudden, unexplained weight gain. This was followed by two
Speaker 5: decades of illness and brain surgery that left her with
Speaker 5: irreparable damage. Throughout this time, Kelly fought a relentless battle
Speaker 5: seeking a cause, educating herself and pushing her concerns aside,
Speaker 5: only for her condition to persist. That's when she decided
Speaker 5: the only thing left to do was to pursue the
Speaker 5: top researchers and doctors at the Mayo Clinic, a renowned
Speaker 5: medical center known for its integrated healthcare, education and research,
Speaker 5: to take on her case.
Speaker 1: And they said, well, let's talk about what you think
Speaker 1: might be wrong with you. So, in a nutshell, I'm like,
Speaker 1: I think I was misdiagnosed. I think I don't have
Speaker 1: an endocrine condition. I think I might have brain damage
Speaker 1: from the surgery. But I go I think that the
Speaker 1: big thing that's really wrong with me has got something
Speaker 1: to do with medications. And they're like, okay, And I
Speaker 1: was there three weeks later.
Speaker 5: Wow, I love this story, Kelly. I love that the
Speaker 5: fact you empowered yourself out of just fear and helplessness.
Speaker 5: You hit this rock bottom and you propelled yourself forward
Speaker 5: from it.
Speaker 1: Yeah, and like, I knew there was something wrong with
Speaker 1: me that we haven't figured out.
Speaker 5: The following months were a whirlwind of flights between Kelly's
Speaker 5: home in New York and the Mayo Clinic in Minnesota.
Speaker 5: Visit's filled with endless tests and consultations. The shuffle halted
Speaker 5: when Kelly was connected with the Mayo Clinics doctor Eric Mattey,
Speaker 5: marking a critical turning point in her search for answers.
Speaker 5: At Mayo Clinic, people are often you know, they're desperate
Speaker 5: for help by the time they get to you, guys,
Speaker 5: because you are the gold standard for answers and solutions
Speaker 5: for people who have been seeking them, sometimes like Kelly
Speaker 5: for over a decade. Do you remember Kelly the first
Speaker 5: time you met.
Speaker 2: I do just like yesterday, And there are patients who
Speaker 2: come in and you could tell that they other point
Speaker 2: where they're really looking for answers. And you know, I
Speaker 2: talk about the importance of really listening to our patients,
Speaker 2: and I think one of the things that Mayo Clinic
Speaker 2: does very well has to do with collaboration. And if
Speaker 2: you go back to Kelly's story, it wasn't just seen
Speaker 2: me by it or seeing multiple providers at Mayo Clinic
Speaker 2: who took the time to really review her condition, her case.
Speaker 2: And Kelly came in, you could tell that she had
Speaker 2: done a lot of research, she had done a lot
Speaker 2: of reading, She had a zale for life, and so
Speaker 2: she was ready to get the answers to continue to
Speaker 2: go back and live a good quality life.
Speaker 5: Doctor Mattee specializes in pharmacogenomics, which focuses on understanding how
Speaker 5: a person's genetics affect their response to medications. His work
Speaker 5: is at the forefront of personalized medicine, using genetic insights
Speaker 5: to create treatments tailored to each individual. What was it
Speaker 5: that struck you in retrospect as so unique about her case?
Speaker 2: When Kelly came in and talked about the medications that
Speaker 2: she was on, and I review the medications again going
Speaker 2: back to the basics of has this medication been effective?
Speaker 2: Has this medication caused any side effect? There very few
Speaker 2: that line up with what was expected for patients who
Speaker 2: were not metabolizing specific medication. In the case of Kelly,
Speaker 2: one of the genes, she was not a normal metabolizer
Speaker 2: of that gene. And just for your listeners in general,
Speaker 2: for some medications and not all medications that have a
Speaker 2: dry gene interaction, if a patient does not metabolize the
Speaker 2: medication as expected, some medication serum concentration can go up
Speaker 2: and cause some side effects. And so in Kelly's case,
Speaker 2: after understanding that there was a potential that if we
Speaker 2: knew more about her genes, we could shere light on
Speaker 2: why she was experiencing the side effects from this particular medication.
Speaker 5: Kelly had a gut feeling for a while that her
Speaker 5: medications might be the source of her issues, and doctor
Speaker 5: Mattee agreed. He suggested pharmacogenomics testing to take a closer
Speaker 5: look at her genes and how they were interacting with
Speaker 5: the treatments. Finally, a comforting step forward.
Speaker 1: It's genetic testing where they look at how your body
Speaker 1: metabolizes medications and see if you have any genetic mutations
Speaker 1: and some of the enzyme systems to see if your
Speaker 1: body metabolizes medications as intended or if you have polymorphisms
Speaker 1: that make you metabolize them slower or faster.
Speaker 2: I think for Kelly's test, it was the second generation,
Speaker 2: so I think it was a nineteen panel that was
Speaker 2: off it for if I remember in that right, yes,
Speaker 2: and so she was part of that second group of
Speaker 2: i'll say patients who were experienced or had that testing
Speaker 2: offered to them.
Speaker 5: So the new frontier, the new frontier of.
Speaker 1: Testing is they have a patient portal, just like every
Speaker 1: major hospital system does.
Speaker 5: Is this how you got your diagnosis?
Speaker 1: This is how I found out because we had a
Speaker 1: call scheduled for later, like after the results came in,
Speaker 1: and I'm watching and then pop into the portal and
Speaker 1: there I keep seeing the word polymorphism, polymorphism, polymorphism. There
Speaker 1: are total of nine tests and I had like more
Speaker 1: than seven, and I'm like it sounds horrible, but I'm like, yes, Like,
Speaker 1: we finally figured out what's wrong with me, Oh, twelve
Speaker 1: years later.
Speaker 5: If you had to, in the simplest possible way, define polymorphism,
Speaker 5: how would you do that?
Speaker 2: Well, it has to do with the variabilities within a
Speaker 2: genetic profile. It has to do with the variability within
Speaker 2: our our genes that affects how we respond to medications
Speaker 2: differently within each individual.
Speaker 1: And I got on the phone with him and he's like,
Speaker 1: you had more than seven, This would explain why you
Speaker 1: feel so unwell with all these medications.
Speaker 3: She started reading it and then she's looking at the
Speaker 3: drug interactions and they have a list of red medications,
Speaker 3: which stuff that you should just not be ever taking
Speaker 3: and certainly not for years at a time. And the
Speaker 3: ascid reducers for her stomach were in that group of
Speaker 3: medications that she should just never be taking.
Speaker 5: And she'd been on them for a decade at that point,
Speaker 5: over a decade.
Speaker 3: Yeah, and it's just all stemming from the heartburn. And
Speaker 3: they basically say, yeah, you're not metabolizing this as fast
Speaker 3: as a normal person. So it just basically sits there,
Speaker 3: not doing anything.
Speaker 2: And then when the result came back, it was like, Wow,
Speaker 2: we could see into the future, right only if we
Speaker 2: knew this information. But there again, this is the power
Speaker 2: of science. Science continues to evolve, Science continues to enlighten
Speaker 2: us as to how best we can help our patients,
Speaker 2: and I think for most patients, even in particular with Kelly,
Speaker 2: when she realized that it wasn't in her head, it
Speaker 2: was her genes that by itself led to a really
Speaker 2: and I could tell that there was resolution, there was comfort.
Speaker 5: At last, Kelly had a clear picture of what had
Speaker 5: been plaguing her polymorphisms. With all her determination and relentless searching,
Speaker 5: she finally found a cutting edge team that didn't just
Speaker 5: treat her symptoms, but uncovered the true cause. It was
Speaker 5: the breakthrough she had sought for decades. How underdiagnosed do
Speaker 5: you think the issue is?
Speaker 2: About ninety nine percent of the population will have at
Speaker 2: least one polymorphism within the farmacogenomic testing, at least one
Speaker 2: gene that is not normal that may have a formacogenomic implication.
Speaker 5: Under doctor Mattey's guidance, Kelly and her doctors began gradually
Speaker 5: tapering her off of medications one at a time to
Speaker 5: identify which ones were causing harm. Instead, of helping, some
Speaker 5: medications were actually exacerbating her condition.
Speaker 1: Between January twenty sixteen and July twenty sixteen, we adjusted
Speaker 1: my meds based on the new genetic data we had,
Speaker 1: and without exercising or changing my diet, I lost fifty
Speaker 1: pounds wow. And in the following year I lost another
Speaker 1: twenty pounds. I saw my PCP after I started going
Speaker 1: to Mayo Clinic and he hadn't seen me for like
Speaker 1: four or five months, and he walked into the room
Speaker 1: and his jaw dropped because I lost so much weight.
Speaker 1: He's like, well, your kids must love having their mom back.
Speaker 1: And I said, they don't recognize me. They were so
Speaker 1: little when I started getting sick, that actually don't recognize
Speaker 1: what I look like now.
Speaker 4: And he goes, oh, like it didn't occur to him.
Speaker 5: What was that like? To help her uncover the woman
Speaker 5: she was and felt she had lost.
Speaker 2: I think the best as that I can give you
Speaker 2: is what we do at Mayo Clinic, which is the
Speaker 2: needs of the patient always comes first, and when we
Speaker 2: are able to help our patients achieve their needs, which
Speaker 2: is in Kelly's case, a zell to live life to
Speaker 2: the fullest. I think that is the greatest joy that
Speaker 2: all clinicians, include myself hopeful for our patients when we're
Speaker 2: able to achieve that.
Speaker 5: Almost immediately, Kelly began to look like and more importantly,
Speaker 5: feel like herself again. She was diligent in preventing this
Speaker 5: from happening again, becoming overly communicative with her doctors and
Speaker 5: pharmacists to avoid any side effects caused by her medications.
Speaker 1: These polymorphisms, they're not rare. There are people sick in
Speaker 1: the hospital right now who The people do have a
Speaker 1: medical condition, but on top of it, they probably have
Speaker 1: polymorphisms that are affecting how their body metabolizes the medications
Speaker 1: that being given, and no one knows about it. It's
Speaker 1: mind boggling to me that so little of this is
Speaker 1: known about now.
Speaker 5: I should think, though, as a mother, since we've used
Speaker 5: the word genetics a lot in this conversation, that you
Speaker 5: must have had that initial relief as you began to heal,
Speaker 5: But then did you start looking at your daughters with
Speaker 5: fear that they could experience the same thing.
Speaker 1: What happened to me will absolutely positively never happened to
Speaker 1: my daughters. Everyone who's related to me has had pharmacogenom
Speaker 1: accessing now. My husband has too, my daughters have pots
Speaker 1: and eds. I'm hoping that these conditions won't be considered
Speaker 1: as rare years from now when people know.
Speaker 4: More about them.
Speaker 5: So, how has watching you navigate your own health battles
Speaker 5: altered the way your daughters approach theirs?
Speaker 1: They definitely demand doctors that they like who will listen
Speaker 1: to them, and I love it.
Speaker 4: They have a wonderful piece.
Speaker 1: But what I appreciate about this lady is that she
Speaker 1: took my daughters as patients now knowing what's.
Speaker 5: Wrong with me, because in an odd way, it's all related. Yeah,
Speaker 5: Kelly was driven to a breaking point in her search
Speaker 5: for medical explanation. Eventually she took matters into her own hands,
Speaker 5: using her determination to find answers. In doing so, she
Speaker 5: not only inspired others, but also continues to push forward
Speaker 5: the conversation around genetic testing and its role in individualized care.
Speaker 1: I have a new PCP, but he and my nephrologists
Speaker 1: are friends in real life, and they both took me
Speaker 1: aside after we figured out what's going on, and they
Speaker 1: said thank you, and I'm like for what, and they're like, well,
Speaker 1: not only do we know about pharmacogenomics testing, and if
Speaker 1: we have a patient like say, well, maybe this medicine's
Speaker 1: not right for me, and we can suggest it to them.
Speaker 1: But they both told me, we know what it means.
Speaker 1: Now when a patient advocates for themselves as much as
Speaker 1: you did, and we're better doctors.
Speaker 5: Because of you, that's beautiful.
Speaker 1: That means a lot because doctors, you know how many
Speaker 1: are going to say that they learned from a patient,
Speaker 1: and I appreciate that. And if I can help them
Speaker 1: help other people, that's wonderful because I don't want anyone
Speaker 1: to go through what I went through.
Speaker 4: It was horrible.
Speaker 5: So, doctor, what gives you hope? What could the future
Speaker 5: of medicine look like with more genetic testing.
Speaker 2: In the space of formacogenomics in general, Our hope is
Speaker 2: that we could have preemptive formacogenomic testing, whereby every patient
Speaker 2: that walks into a clinic will have pharmacogenomic testing. Then thereby,
Speaker 2: in the future, if there's a new medication that's going
Speaker 2: to be prescribed as we are in the world of
Speaker 2: artificient intelligence latificial intelligence, to be able to say, oh,
Speaker 2: this patient has this test and then this medication may
Speaker 2: not be the best. So this medication may cause some
Speaker 2: side effects, started to reduce those. So this medication is
Speaker 2: the right way continue. We are getting there, but we
Speaker 2: are not there yet, and so I want your listeners
Speaker 2: to understand that if they have questions, they should talk
Speaker 2: to a pharmacist, get some answers, and if testing is appropriate,
Speaker 2: moved that direction. But again the hope is that the
Speaker 2: time will come we will have more of the preemptive
Speaker 2: from oco genomic testing. There's a lot of information that
Speaker 2: again Mayo Clinic can share with you all you know,
Speaker 2: the clinical from ourco Genomic Implementation Consocium SEEPEG to be
Speaker 2: shot on the air website provide a lot of great
Speaker 2: resource about dry gene guidelines. That is another great resource
Speaker 2: that provide great guidelines for both patients and I think practitioners.
Speaker 5: What do you hope people take away from Kelly's story.
Speaker 3: I hope they recognize from the point where they start
Speaker 3: getting treated for something, if new things start to appear
Speaker 3: and you're still being treated for that original sim maybe
Speaker 3: they're not finding the problem that you need to solve,
Speaker 3: or maybe there's another issue that also needs to be
Speaker 3: solved in conjunction with that.
Speaker 1: If I could figure this out, you could too. And
Speaker 1: if you know you're sick, whether it's the issue I
Speaker 1: have or some other issue, and you genuinely know there's
Speaker 1: something wrong with you, work to figure it out. What's
Speaker 1: invaluable is that we do have the Internet, and there
Speaker 1: are lots of valuable resources out there. I spend a
Speaker 1: lot of my time on Mayo Clinic. I think it's
Speaker 1: dot org. I look at Stanford's website. I look at
Speaker 1: Johns Hopkins, I look at NIH. I look at all
Speaker 1: solid sources like that, and looking at those sources, I
Speaker 1: save my own life kind of. My name is Kelly,
Speaker 1: and for over twelve years I struggled with misdiagnoses and
Speaker 1: medical conditions before being diagnosed with drug metabolism polymorphisms.
Speaker 5: Next week on Symptomatic, we're excited to interduce Use, a
Speaker 5: special bonus series you'll be hearing throughout season three Symptomatic
Speaker 5: house Calls. In these episodes, we'll reconnect with past guests
Speaker 5: to get updates on how they've been managing their conditions
Speaker 5: and how their lives have changed since appearing on the show.
Speaker 5: In our first house call, we revisit case number two
Speaker 5: Athena from season one spoil Alert For those who haven't
Speaker 5: heard this episode, Athena was diagnosed with Hydrodenitis superativa, a
Speaker 5: debilitating chronic inflammatory condition. Join us as we catch up
Speaker 5: with Athena and learn how her life with HS has
Speaker 5: changed since appearing on Symptomatic.
Speaker 7: It's really good to be able to do this follow
Speaker 7: up from such a good place in my life, both
Speaker 7: physically and emotionally. I'm happy to report that I'm in
Speaker 7: the best health, probably of my life.
Speaker 5: Don't miss this heartfelt update with Athena and look out
Speaker 5: for more house calls later this season. As always, we
Speaker 5: would love to hear from you. Send us your thoughts
Speaker 5: on this episode or share a medical mystery of your
Speaker 5: own at Symptomatic at iHeartMedia dot com, and please rate
Speaker 5: and review Symptomatic wherever you get your podcasts. We'll see
Speaker 5: you next time. Until then, be well. Symptomatic is a
Speaker 5: production of Ruby Studio from iHeartMedia. Our show is hosted
Speaker 5: by me Lauren Bret Pacheco. Executive producers are Matt Romano
Speaker 5: and myself. Our EP of post production is James Foster.
Speaker 5: Our supervising producer is Cierra Kaiser. Our writers are John
Speaker 5: Irwin and Diana Davis. And our editor is Cierra Spreen.