October 22, 2024 • 36 mins
In her early 30s, Kelly was suddenly plagued by a series of inexplicable health issues, from severe heartburn to rapid weight gain, leaving doctors utterly baffled. Misdiagnosed and even subjected to brain surgery, Kelly’s journey took a shocking turn with an unexpected genetic revelation.
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Speaker 1 (00:09):
It took a couple of years until more symptoms started.
I looked back at pictures of me now, and it's
hard to even recognize myself.
Speaker 2 (00:18):
She was ready to get the answers to continue to
go back and live a good quality life.
Speaker 3 (00:24):
She had that surgery, and I was terrified of leaving
her alone in there. I've never seen her in such
debilitating pain. I just I didn't want to lose her.
Speaker 1 (00:34):
And I looked up and I saw my neurosurgeon, and
he's asking me the questions like you see on TV
when you know something really bad happen.
Speaker 4 (00:42):
Do you know your name? Do you know what year
it is? And do you know who's the president?
Speaker 5 (00:53):
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.
(01:17):
These are their stories. And Lauren Bribe Pacheco and this
is symptomatic. You immediately notice Kelly Dubois intelligence, strive, and
(01:42):
analytical nature. It's clear she is not one to give
up easily. These very traits have helped your navigate some
of the most challenging moments in her life. Tell me
a little bit about you. What are your passions? Anybody
who knows you, what would they say you love?
Speaker 1 (02:00):
I often think about the question of what did you
want to be when you grow up? And I don't
know what I wanted to be, other than I know
I wanted to be a mom. I wanted a career,
and I wanted to be intrigued with a career and
use my brain a ton because I appreciate and enjoying that.
But the one thing I wanted to be was a mom.
Speaker 5 (02:19):
Kelly has achieved that goal alongside her husband Chuck, in
a relationship founded on countless shared connections.
Speaker 3 (02:27):
We're both techies, lots of gardening in our yard and
lots of picture taking things like that. She's very smart,
pretty driven. She likes things to be solved, she likes
definitive answers, and she's probably one of the most caring
people I know as well.
Speaker 5 (02:46):
Kelly and Chuck share a blended family and have been
married for over a decade, cultivating a life rich in
love and mutual support. However, their lives soon took an
unexpected turn, testing their young family in ways they never imagined. So,
just in terms of your health challenges looking back now,
(03:10):
is there a time where you specifically remember a symptom
manifesting itself that seemed unusual.
Speaker 1 (03:17):
I was actually thinking you would ask me this, because
that was very healthy my entire life up until this happened.
But when I look back, when I was sixteen, I
started getting migraine headaches, and they're a thing in our family.
My brother has them, my mother has them. And I
would be taking different medications and none of them really worked.
(03:38):
And I was told, take one pill. If you still
have the headache coming on half hour later, take the
other one. And I was awake for two days with
a headache or they would.
Speaker 4 (03:50):
Knock me out and I would sleep.
Speaker 1 (03:52):
I remember one year, freshman year in college, I was
put on a new med to help try to battle
my migraines and I was just sleep being constantly. So
I contacted my doctor. I'm like, this is not working.
I can't live like this.
Speaker 5 (04:06):
That's fascinating. So their clues as early as sixteen and
nineteen as to what would await you in your adult
health challenges.
Speaker 1 (04:16):
Yeah, it's very interesting hindsight, you know, twenty twenty.
Speaker 5 (04:20):
Always what Kelly didn't realize her reaction to come in
migraine medication was an early warning sign of the challenges ahead.
At the time, she brushed it off, But several years later,
during her first pregnancy, new symptoms began to surface. When
is the next time that something happens to you physically
(04:44):
that you realize something is really a mess.
Speaker 1 (04:48):
So I'm about thirty two. I'd had JOHNA and Rachel,
and I started having heartburn. And I actually never had
heartburn until I was pregnant. I didn't even know what
it was. Andna ends up had a heidelhernia. So the
sphincter ends up failing at the base of I think
the esophagus, and part of the stomach comes up. Then
you have stomach acid coming up into your esophagus.
Speaker 3 (05:11):
She had a lot of morning sickness, so throwing up,
I had to hold her hair out of the toilet
and the usual husbandly things. And I mean I think
she got put on bed rest for a little while
as well, all things considered. She's a trooper.
Speaker 1 (05:26):
So I talked to my PCP and he prescribed a
proton pump inhibitor, because at that time you couldn't get
them over the counter.
Speaker 5 (05:34):
A proton pump inhibitor reduces stomach acid production by blocking
the enzyme responsible for acid release, helping to relieve conditions
like heartburn and acid reflux.
Speaker 1 (05:45):
I almost immediately start gaining weight, like ten pounds a
month weight, and I go to talk to my doctors.
I'm like, there's something wrong, like I shouldn't be gaining
weight this quickly, and they're like, well, we'll test your
thyroid and stuff like that. They tested other hormone and
they were like, well, you're about thirty two thirty three
now you just had kids.
Speaker 4 (06:04):
It just happens women gain weight.
Speaker 1 (06:06):
They're like, your metabolism slows down, and I'm like, well
it shouldn't come too a screeching hull.
Speaker 4 (06:12):
I was buying new pants every month.
Speaker 5 (06:15):
How did it impact her mindset and her self esteem?
Speaker 3 (06:19):
She started not wanting to have her pictures taken. Even
me just taking a quick snap of her, She's like,
you got to delete that, and she just didn't want
to remember those moments.
Speaker 1 (06:32):
I look back at pictures of me now and I
don't it's hard to like even recognize myself. And I
look at pictures of my fortieth birthday because I don't
remember it, and I just look miserable. I could tell
I was just I was in so much pain, and
then all these symptoms built up, and it's just so
unwell feeling. It's almost like I was a different person.
Speaker 5 (06:55):
So you're trapped within your own body, basically.
Speaker 1 (06:59):
That's a perfect way to explain it. I was like
in prison.
Speaker 5 (07:07):
Kelly's rapid weight gain began in her early thirties and
continued into her forties. Understandably, it didn't take long for
it to affect her mental well being, leaving her confused
and frustrated. And just when you thought that things couldn't
get any worse, you start manifesting another physical symptom.
Speaker 1 (07:29):
Yeah, I remember. It was February two thousand and seven.
I was sitting in my office at work, and I
live in upstate New York. It's cold and snowy here.
It's really bad in January and February, and I'm sitting
in my office and I have sweat pouring down from
the top of my head, like I am so hot,
and I am just profusely sweating for no reason. Now,
(07:52):
I'm talking like running down my face, running down through
my hair. I'd have to wear extra clothes underneath my
work clothes to absorb the sweat. It was bizarre, and
I put up with it until like June, and then
I contacted my PCP and said, this is a normal.
Speaker 5 (08:13):
What did you think? It was initially early onset of menopause.
Speaker 1 (08:17):
So he's like, let's see if you have a pituitary tumor,
we'll give you an MRI because they was thinking maybe
it was an endocrine thing with the weight increase and
the sweating and stuff like that. So I'm like, Okay,
we'll go for it. I'm the type of person I
always want to figure out what's wrong with me because
I want to fix it because I don't want to
feel that way anymore.
Speaker 5 (08:37):
And so they decide to test for pituitary issue yep,
and what do they uncover.
Speaker 1 (08:45):
What they found in the radiology report was a very
small three to four millimeter tumor. They thought, so your
peituitary glands about the size of a pee. And they
were thinking that they found a tumor on the anterior
on the front of my pituitary gland, so.
Speaker 3 (09:01):
They recommended removal of that, and I mean we had
quite a bit of hope that that might be the
right path.
Speaker 1 (09:07):
I am visited with another endochronologist who was a partner
at a pituitary tumor clinic where I live, and met
with a neurosurgeon as well, and I did have higher
growth hormone levels. And I'm getting sicker and sicker over this.
Another two year span, I was finally diagnosed with a
rare endocrn condition called acromegaly.
Speaker 5 (09:30):
And will you, just, in Layman's term, explain to me
what that is.
Speaker 1 (09:34):
It's called gigantism in the Princess Bride, the kind giant
he had in real life, gigantism. And it's a condition where,
depending on when it happens in your life, you can
get extraordinarily tall. When it happens and you're older, it
produces enough hormones where you do have hyperhydrosis, You do
gain weight, your hands, your feet, and your head can
(09:56):
grow a little bigger, but your rest of your body
won't get super tall if you're older. What it happens
body wide pain, migraine, stuff like that.
Speaker 5 (10:05):
Did you get any solace initially from that diagnosis?
Speaker 1 (10:09):
Yeah, it's finally like the enemy had a name, yeah,
and we know what's wrong with me, and finally I
can get some treatment. Acromaglia, I believe is a one
in one million diagnosis.
Speaker 5 (10:22):
What was the treatment and how did you respond?
Speaker 1 (10:25):
The first response is actually brain surgery.
Speaker 5 (10:31):
After about a decade of unexplained symptoms, Kelly finally felt
like she had some answers, but the solution would pose
new questions. The doctors plan to remove her pituitary gland,
a small piece sized gland located at the base of
the brain that produces several important hormones. This would reduce
(10:51):
the amount of growth hormone in her body, hopefully bringing
her some relief. Kelly, I'm already just thinking of you
as a young mother with a career, basically bursting out
of your clothing and then feeling like you can be
drenched in your own sweat at any given point and
(11:11):
not knowing what's happening. Yea, how difficult was that for
you to navigate on a daily basis?
Speaker 1 (11:18):
Extraordinarily because one of the symptoms I was developing was
also brain fog and inability to think clearly. And I'm
just trying my best, and I have a wonderful husband
who helps with my kids. Very fortunate, thank God. But
I remember one morning when I wasn't feeling well and
I must have taken the day off because I was sick,
(11:40):
and Chuck brought the girls to see me, and they
were they were in preschool daycare type of age, and
they both ran up and gave me their stuffed animals
so that I had someone to stay with me while
they were gone at school all day. And I thought,
how wonderful it is that I have kids who are
so little yet so incredibly compassionate. But I'm so mad
(12:02):
that we're not figuring this out, because they shouldn't have
to be in that position at this age to worry
about mommy while they're at preschool.
Speaker 5 (12:11):
Yeah, because you feel like you should be the caregiver.
Speaker 1 (12:15):
Yeah, I should be taking care of them, and it's
the opposite. And they're not even five years old.
Speaker 3 (12:21):
It's a little tough with the girls, not only because
I mean she just generally, whether she's in pain or
just always a little uncomfortable. I mean it made it
so she couldn't like play with them on the floor
or anything like that for an extended period of time.
She didn't toss them around or go for walks as
much as she really wanted.
Speaker 5 (12:44):
Before the surgery, Kelly took a glucose tolerance test, which
revealed an unexpected twist she didn't actually have acromegalie, leaving
the mystery of her condition unsolved. Despite this, doctors decide
to move forward with the surgery to address the risks
of her growth hormone levels causing an enlarged heart or
(13:07):
organ failure. And what did the surgery entail? How invasive
was it?
Speaker 1 (13:15):
So what they do is your pituitary gland is kind
of like in the middle of your brain, hanging down
from I'm going to call it a little dongle, and it's,
like I said, the size of a p So they
went in through my right nostril, removed some boning cartilage
from my skull, and they they cut to open like
there's a membrane around the pituitary gland, and they kind
(13:37):
of like vacuum out what they believe is tumor material and.
Speaker 4 (13:42):
Then they they back out and the goal is to
go home. The next day.
Speaker 1 (13:47):
I had a five day long spinal fluid leak, and
after the surgery, I did not wake up in the
timeframe that they thought I would And I remember waking
up in my room and the person standing above me
was actually my neurosurgeon, and I was in the brain
(14:08):
I see you. And I remember looking out the window
and thinking, why is it getting dark outside? Because my
surgery was again the first thing in the morning, like
six point thirty in the morning. And I looked up
and I saw my neural surgeon and he's asking me
the questions like you see on TV when you know
something really bad happened. Do you know your name? Do
(14:28):
you know what year it is? And do you know
who's the president? I remember thinking something bad happened.
Speaker 5 (14:39):
May I ask you, as her husband, what that was
like for you being on the other side of that
hospital door.
Speaker 3 (14:49):
Yeah, that was painful. I'd like to say that's where
all my gray hair came from, but that's probably not
true at all. She was in excruciating pain the whole
time she was there, because every time she moved around
her her head felt like it was gonna I don't
know if explode is the right word it Maybe imploded
is a better word. I was terrified of leaving her
(15:10):
alone in there, and I just I didn't want to
lose her.
Speaker 1 (15:14):
I am so fortunate that someone you know, what are
the lines in your wedding? It's sickness and in health.
Let me tell you, I'm so lucky I had someone
who was so willing to adhere to the you know,
but not because he had to, because he wants to.
Speaker 5 (15:29):
After Kelly's recovery and discharge, she thought the worst was
behind her, but the very next day she was back
in the hospital, this time with kidney stones. To make
matters worse, cat scans from her surgery revealed a breast mass,
sending her into the operating room again a week later. Thankfully,
it was benign. As she recovered from these setbacks, she
(15:52):
began to feel a small sense of relief. Unfortunately, that
relief didn't last long time.
Speaker 4 (16:00):
And went on though.
Speaker 1 (16:00):
I started gating weight again and having the symptoms come back.
Hyperhydrosis got worse, the flushing got worse, the body wide pain.
At one point, I'd taken a shower and the top
layer of my scalp underneath my hair, the whole thing
peeled off, and I was having this odor come out
of my body. I'd smell like chemicals. It was bizarre,
(16:22):
and if I would drink a decaf coffee. I would
smell a campfire smoke, and I was finding my lymph
nodes in my armpits swelling up.
Speaker 4 (16:30):
And I was just.
Speaker 1 (16:31):
Getting bigger and bigger. I was almost two hundred pounds.
Speaker 5 (16:35):
What kept you going?
Speaker 1 (16:37):
My kids and my husband, and like my family, I
can't imagine not being here for them. So I remember
one time in February twenty fifteen, I'm laying in bed,
It's like seven o'clock at night, and I hear my
family in the living room watching TV. I think they
were watching, you know, the game shows or whatever, and
I'm like, I had this number running through my head
(16:58):
over and over again, digits one, two, three, you know, four, five,
six seventy nine, not that number, but over and over
and over like.
Speaker 4 (17:07):
Five minutes, like what is that? What is that? What
is that? Why do I know that? I don't know
what that number is?
Speaker 1 (17:11):
What is it? And then it occurred to me it
was my own social Security number that I've known since
I was in eighth grade. And I didn't know what
it was. I knew it, but I'm like, oh, something's
really wrong with me.
Speaker 3 (17:26):
She was always kind of inn a little bit of
a haze. She wasn't quite as chris and witty as
she used to be. Then it takes her a longer
road to get the answers for most things.
Speaker 5 (17:39):
Post surgery, These cognitive issues piled onto years of physical symptoms.
Once again, Kelly turned to her doctors for help.
Speaker 1 (17:49):
And that's the thing is when you are chronically ill
in trying to figure out what's wrong with you, the
stress of going to an appointment, the nervousness of meeting
a new doctor, and then finding out that that's not
what's wrong with you, over and over and over again.
It's like constantly getting bamboozled. After another doctor appointment, they
(18:09):
told me they didn't know what was wrong with me,
And I locked myself in my bedroom because it was
August and my kids were still home from school because
they've already worried enough about me. And I did one
thing I'd never done before. And I don't even know why.
I got really mad. And I wasn't mad at my doctor,
because she's wonderful. I was mad at this system where
(18:30):
we don't easily figure out what's wrong with people, and
I don't know.
Speaker 4 (18:32):
I felt angry. I got really, really mad.
Speaker 5 (18:36):
Despite all she'd endured, Kelly refused to let her struggles
define her. After multiple surgeries and relentless symptoms, she knew
it was time to take the next steps into her
own hands. Determined to find concrete answers, Kelly knew there
was one place that could offer her hope, the Mayo Clinic.
Speaker 1 (18:56):
I was getting to the point where I'm like, there
is something else wrong with me.
Speaker 5 (19:02):
We'll be right back with Symptomatic, a medical mystery podcast.
Now back to Symptomatic, a medical mystery podcast. For Kelly Dubois,
it all began with the diagnosis of a hiatal hernia
and sudden, unexplained weight gain. This was followed by two
(19:25):
decades of illness and brain surgery that left her with
irreparable damage. Throughout this time, Kelly fought a relentless battle
seeking a cause, educating herself and pushing her concerns aside,
only for her condition to persist. That's when she decided
the only thing left to do was to pursue the
(19:46):
top researchers and doctors at the Mayo Clinic, a renowned
medical center known for its integrated healthcare, education and research,
to take on her case.
Speaker 1 (20:04):
And they said, well, let's talk about what you think
might be wrong with you. So, in a nutshell, I'm like,
I think I was misdiagnosed. I think I don't have
an endocrine condition. I think I might have brain damage
from the surgery. But I go I think that the
big thing that's really wrong with me has got something
to do with medications. And they're like, okay, And I
(20:25):
was there three weeks later.
Speaker 5 (20:27):
Wow, I love this story, Kelly. I love that the
fact you empowered yourself out of just fear and helplessness.
You hit this rock bottom and you propelled yourself forward
from it.
Speaker 1 (20:42):
Yeah, and like, I knew there was something wrong with
me that we haven't figured out.
Speaker 5 (20:48):
The following months were a whirlwind of flights between Kelly's
home in New York and the Mayo Clinic in Minnesota.
Visit's filled with endless tests and consultations. The shuffle halted
when Kelly was connected with the Mayo Clinics doctor Eric Mattey,
marking a critical turning point in her search for answers.
(21:09):
At Mayo Clinic, people are often you know, they're desperate
for help by the time they get to you, guys,
because you are the gold standard for answers and solutions
for people who have been seeking them, sometimes like Kelly
for over a decade. Do you remember Kelly the first
time you met.
Speaker 2 (21:29):
I do just like yesterday, And there are patients who
come in and you could tell that they other point
where they're really looking for answers. And you know, I
talk about the importance of really listening to our patients,
and I think one of the things that Mayo Clinic
does very well has to do with collaboration. And if
(21:51):
you go back to Kelly's story, it wasn't just seeing
me by it or seeing multiple providers at Mayo Clinic
who took the time to really review her condition, her case.
And Kelly came in, you could tell that she had
done a lot of research, she had done a lot
of reading, She had a zale for life, and so
she was ready to get the answers to continue to
(22:13):
go back and live a good quality life.
Speaker 5 (22:16):
Doctor Mattee specializes in pharmacogenomics, which focuses on understanding how
a person's genetics affect their response to medications. His work
is at the forefront of personalized medicine, using genetic insights
to create treatments tailored to each individual. What was it
that struck you in retrospect as so unique about her case?
Speaker 2 (22:41):
When Kelly came in and talked about the medications that
she was on, and I review the medications again going
back to the basics of has this medication been effective?
Has this medication caused any side effect? There very few
that line up with what was expected for patients who
(23:04):
were not metabolizing specific medication. In the case of Kelly,
one of the genes, she was not a normal metabolizer
of that gene. And just for your listeners in general,
for some medications and not all medications that have a
dry gene interaction, if a patient does not metabolize the
(23:24):
medication as expected, some medication serum concentration can go up
and cause some side effects. And so in Kelly's case,
after understanding that there was a potential that if we
knew more about her genes, we could shere light on
why she was experiencing the side effects from this particular medication.
Speaker 5 (23:46):
Kelly had a gut feeling for a while that her
medications might be the source of her issues, and doctor
Mattee agreed. He suggested pharmacogenomics testing to take a closer
look at her genes and how they were interacting with
the treatments. Finally, a comforting step forward, it's.
Speaker 1 (24:06):
Genetic testing where they look at how your body metabolizes
medications and see if you have any genetic mutations and
some of the enzyme systems to see if your body
metabolizes medications as intended or if you have polymorphisms that
make you metabolize them slower or faster.
Speaker 2 (24:26):
I think for Kelly's test, it was the second generation,
so I think it was a nineteen panel that was
offered for if I remember in that right, yes, and
so she was part of that second group of i'll
say patients who were experienced or had that testing offered
to them.
Speaker 5 (24:43):
So the new frontier, the new frontier of.
Speaker 1 (24:45):
Testing is they have a patient portal, just like every
major hospital system does.
Speaker 5 (24:51):
Is this how you got your diagnosis?
Speaker 1 (24:53):
This is how I found out because we had a
call scheduled for later, like after the results came in,
and I'm watching and then pop into the portal and
there I keep seeing the word polymorphism, polymorphism, polymorphism. There
are total of nine tests and I had like more
than seven, and I'm like it sounds horrible, but I'm like, yes, Like,
(25:15):
we finally figured out what's wrong with me, Oh, twelve
years later.
Speaker 5 (25:21):
If you had to, in the simplest possible way, define polymorphism,
how would you do that?
Speaker 2 (25:29):
Well, it has to do with the variabilities within a
genetic profile. It has to do with the variability within
our our genes that affects how we respond to medications
differently within each individual.
Speaker 1 (25:44):
And I got on the phone with him and he's like,
you had more than seven, This would explain why you
feel so unwell with all these medications.
Speaker 3 (25:54):
She started reading it and then she's looking at the
drug interactions and they have a list of red medications,
which stuff that you should just not be ever taking
and certainly not for years at a time. And the
ascid reducers for her stomach were in that group of
medications that she should just never.
Speaker 5 (26:12):
Be taking, and she'd been on them for a decade
at that point, over a decade.
Speaker 3 (26:16):
Yeah, and it's just all stemming from the heartburn. And
they basically say, yeah, you're not metabolizing this as fast
as a normal person. So it just basically sits there,
not doing anything.
Speaker 2 (26:31):
And then when the result came back, it was like, Wow,
we could see into the future, right only if we
knew this information. But there again, this is the power
of science. Science continues to evolve, Science continues to enlighten
us as to how best we can help our patients,
and I think for most patients, even in particular with Kelly,
(26:52):
when she realized that it wasn't in her head, it
was her genes that by itself led to a really
and I could tell that there was resolution, there was comfort.
Speaker 5 (27:06):
At last, Kelly had a clear picture of what had
been plaguing her polymorphisms. With all her determination and relentless searching,
she finally found a cutting edge team that didn't just
treat her symptoms, but uncovered the true cause. It was
the breakthrough she had sought for decades. How underdiagnosed do
(27:29):
you think the issue is?
Speaker 2 (27:32):
About ninety nine percent of the population will have at
least one polymorphism within the farmacogenomic testing, at least one
gene that is not normal that may have a formacogenomic implication.
Speaker 5 (27:48):
Under doctor Mattey's guidance, Kelly and her doctors began gradually
tapering her off of medications one at a time to
identify which ones were causing harm. Instead, of helping, some
medications were actually exacerbating her condition.
Speaker 1 (28:03):
Between January twenty sixteen and July twenty sixteen, we adjusted
my meds based on the new genetic data we had,
and without exercising or changing my diet, I lost fifty
pounds wow. And in the following year I lost another
twenty pounds. I saw my PCP after I started going
to Mayo Clinic and he hadn't seen me for like
(28:25):
four or five months, and he walked into the room
and his jaw dropped because I lost so much weight.
He's like, well, your kids must love having their mom back.
And I said, they don't recognize me. They were so
little when I started getting sick, that actually don't recognize
what I look like now. And he goes, oh, like
(28:46):
it didn't occur to him.
Speaker 5 (28:48):
What was that like? To help her uncover the woman
she was and felt she had lost.
Speaker 2 (28:58):
I think the best as that I can give you
is what we do at Mayo Clinic, which is the
needs of the patient always comes first, and when we
are able to help our patients achieve their needs, which
is in Kelly's case, a zell to live life to
the fullest. I think that is the greatest joy that
(29:21):
all clinicians, include myself hopeful for our patients when we're
able to achieve that.
Speaker 5 (29:29):
Almost immediately, Kelly began to look like and more importantly,
feel like herself again. She was diligent in preventing this
from happening again, becoming overly communicative with her doctors and
pharmacists to avoid any side effects caused by her medications.
Speaker 1 (29:46):
These polymorphisms, they're not rare. There are people sick in
the hospital right now who The people do have a
medical condition, but on top of it, they probably have
polymorphisms that are affecting how their body metabolizes the medications
that being given, and no one knows about it. It's
mind boggling to me that so little of this is
known about now.
Speaker 5 (30:07):
I should think, though, as a mother, since we've used
the word genetics a lot in this conversation, that you
must have had that initial relief as you began to heal,
But then did you start looking at your daughters with
fear that they could experience the same thing.
Speaker 1 (30:25):
What happened to me will absolutely positively never happened to
my daughters. Everyone who's related to me has had pharmacogenom
accessing now. My husband has too, my daughters have pots
and eds. I'm hoping that these conditions won't be considered
as rare years from now when people know.
Speaker 4 (30:43):
More about them.
Speaker 5 (30:44):
So, how has watching you navigate your own health battles
altered the way your daughters approach theirs?
Speaker 1 (30:54):
They definitely demand doctors that they like who will listen
to them, and I love it.
Speaker 4 (30:58):
They have a wonderful piece.
Speaker 1 (31:01):
But what I appreciate about this lady is that she
took my daughters as patients now knowing what's.
Speaker 5 (31:06):
Wrong with me, because in an odd way, it's all related. Yeah,
Kelly was driven to a breaking point in her search
for medical explanation. Eventually she took matters into her own hands,
using her determination to find answers. In doing so, she
not only inspired others, but also continues to push forward
(31:28):
the conversation around genetic testing and its role in individualized care.
Speaker 1 (31:33):
I have a new PCP, but he and my nephrologists
are friends in real life, and they both took me
aside after we figured out what's going on, and they
said thank you, and I'm like for what, and they're like, well,
not only do we know about pharmacogenomics testing, and if
we have a patient like say, well, maybe this medicine's
not right for me, and we can suggest it to them.
Speaker 4 (31:55):
But they both told me, we know what it means.
Speaker 1 (31:58):
Now when a patient advocates for themselves as much as
you did, and we're better doctors.
Speaker 5 (32:04):
Because of you, that's beautiful.
Speaker 1 (32:06):
That means a lot because doctors, you know how many
are going to say that they learned from a patient,
and I appreciate that. And if I can help them
help other people, that's wonderful because I don't want anyone
to go through what I went through.
Speaker 4 (32:20):
It was horrible.
Speaker 5 (32:22):
So, doctor, what gives you hope? What could the future
of medicine look like with more genetic testing.
Speaker 2 (32:30):
In the space of formacogenomics in general, Our hope is
that we could have preemptive formacogenomic testing, whereby every patient
that walks into a clinic will have pharmacogenomic testing. Then thereby,
in the future, if there's a new medication that's going
to be prescribed, as we are in the world of
artificient intelligence, latificial intelligence, will be able to say, oh,
(32:50):
this patient has this test, and then this medication may
not be the best. So this medication may cause some
side effects, started to reduce those, So this medication is
the right way continue. We are getting there, but we
are not there yet, and so I want your listeners
to understand that if they have questions, they should talk
to a pharmacist, get some answers, and if testing is appropriate,
(33:13):
moved that direction. But again the hope is that the
time will come we will have more of the preemptive
from oco genomic testing. There's a lot of information that
again Mayo Clinic can share with you all you know,
the clinical from ourco genomic Implementation Consocium SEEPEG to be
shot on their website. Provide a lot of great resource
about dry gene guidelines. That is another great resource that
(33:38):
provide great guidelines for both patients and I think practitioners.
Speaker 5 (33:44):
What do you hope people take away from Kelly's story.
Speaker 3 (33:48):
I hope they recognize from the point where they start
getting treated for something, if new things start to appear
and you're still being treated for that original sim maybe
they're not finding the problem that you need to solve,
or maybe there's another issue that also needs to be
solved in conjunction with that.
Speaker 1 (34:08):
If I could figure this out, you could too. And
if you know you're sick, whether it's the issue I
have or some other issue, and you genuinely know there's
something wrong with you, work to figure it out. What's
invaluable is that we do have the Internet, and there
are lots of valuable resources out there. I spend a
(34:29):
lot of my time on Mayo Clinic. I think it's
dot org. I look at Stanford's website. I look at
Johns Hopkins, I look at NIH. I look at all
solid sources like that, and looking at those sources, I
save my own life kind of. My name is Kelly,
and for over twelve years I struggled with misdiagnoses and
(34:50):
medical conditions before being diagnosed with drug metabolism polymorphisms.
Speaker 5 (34:57):
Next week on Symptomatic, we're excited to interduce Use, a
special bonus series you'll be hearing throughout season three Symptomatic
house Calls. In these episodes, we'll reconnect with past guests
to get updates on how they've been managing their conditions
and how their lives have changed since appearing on the show.
In our first house call, we revisit case number two
(35:19):
Athena from season one. Spoil alert for those who haven't
heard this episode, Athena was diagnosed with Hydrodenitis superativa, a
debilitating chronic inflammatory condition. Join us as we catch up
with Athena and learn how her life with HS has
changed since appearing on Symptomatic.
Speaker 6 (35:38):
It's really good to be able to do this follow
up from such a good place in my life, both
physically and emotionally. I'm happy to report that I'm in
the best health, probably of my life.
Speaker 5 (35:51):
Don't miss this heartfelt update with Athena and look out
for more house calls later this season. As always, we
would love to hear from you. Send us your thoughts
on this episode or share a medical mystery of your
own at Symptomatic at iHeartMedia dot com, and please rate
and review Symptomatic wherever you get your podcasts. We'll see
(36:13):
you next time. Until then, be well. Symptomatic is a
production of Ruby Studio from iHeartMedia. Our show is hosted
by me Lauren Bret Pacheco. Executive producers are Matt Romano
and myself. Our EP of post production is James Foster.
Our supervising producer is Cierra Kaiser. Our writers are John
(36:34):
Irwin and Diana Davis, and Our editor is Cierra Spreen.
It took a couple of years until more symptoms started.
I looked back at pictures of me now, and it's
hard to even recognize myself.
Speaker 2 (00:18):
She was ready to get the answers to continue to
go back and live a good quality life.
Speaker 3 (00:24):
She had that surgery, and I was terrified of leaving
her alone in there. I've never seen her in such
debilitating pain. I just I didn't want to lose her.
Speaker 1 (00:34):
And I looked up and I saw my neurosurgeon, and
he's asking me the questions like you see on TV
when you know something really bad happen.
Speaker 4 (00:42):
Do you know your name? Do you know what year
it is? And do you know who's the president?
Speaker 5 (00:53):
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.
(01:17):
These are their stories. And Lauren Bribe Pacheco and this
is symptomatic. You immediately notice Kelly Dubois intelligence, strive, and
(01:42):
analytical nature. It's clear she is not one to give
up easily. These very traits have helped your navigate some
of the most challenging moments in her life. Tell me
a little bit about you. What are your passions? Anybody
who knows you, what would they say you love?
Speaker 1 (02:00):
I often think about the question of what did you
want to be when you grow up? And I don't
know what I wanted to be, other than I know
I wanted to be a mom. I wanted a career,
and I wanted to be intrigued with a career and
use my brain a ton because I appreciate and enjoying that.
But the one thing I wanted to be was a mom.
Speaker 5 (02:19):
Kelly has achieved that goal alongside her husband Chuck, in
a relationship founded on countless shared connections.
Speaker 3 (02:27):
We're both techies, lots of gardening in our yard and
lots of picture taking things like that. She's very smart,
pretty driven. She likes things to be solved, she likes
definitive answers, and she's probably one of the most caring
people I know as well.
Speaker 5 (02:46):
Kelly and Chuck share a blended family and have been
married for over a decade, cultivating a life rich in
love and mutual support. However, their lives soon took an
unexpected turn, testing their young family in ways they never imagined. So,
just in terms of your health challenges looking back now,
(03:10):
is there a time where you specifically remember a symptom
manifesting itself that seemed unusual.
Speaker 1 (03:17):
I was actually thinking you would ask me this, because
that was very healthy my entire life up until this happened.
But when I look back, when I was sixteen, I
started getting migraine headaches, and they're a thing in our family.
My brother has them, my mother has them. And I
would be taking different medications and none of them really worked.
(03:38):
And I was told, take one pill. If you still
have the headache coming on half hour later, take the
other one. And I was awake for two days with
a headache or they would.
Speaker 4 (03:50):
Knock me out and I would sleep.
Speaker 1 (03:52):
I remember one year, freshman year in college, I was
put on a new med to help try to battle
my migraines and I was just sleep being constantly. So
I contacted my doctor. I'm like, this is not working.
I can't live like this.
Speaker 5 (04:06):
That's fascinating. So their clues as early as sixteen and
nineteen as to what would await you in your adult
health challenges.
Speaker 1 (04:16):
Yeah, it's very interesting hindsight, you know, twenty twenty.
Speaker 5 (04:20):
Always what Kelly didn't realize her reaction to come in
migraine medication was an early warning sign of the challenges ahead.
At the time, she brushed it off, But several years later,
during her first pregnancy, new symptoms began to surface. When
is the next time that something happens to you physically
(04:44):
that you realize something is really a mess.
Speaker 1 (04:48):
So I'm about thirty two. I'd had JOHNA and Rachel,
and I started having heartburn. And I actually never had
heartburn until I was pregnant. I didn't even know what
it was. Andna ends up had a heidelhernia. So the
sphincter ends up failing at the base of I think
the esophagus, and part of the stomach comes up. Then
you have stomach acid coming up into your esophagus.
Speaker 3 (05:11):
She had a lot of morning sickness, so throwing up,
I had to hold her hair out of the toilet
and the usual husbandly things. And I mean I think
she got put on bed rest for a little while
as well, all things considered. She's a trooper.
Speaker 1 (05:26):
So I talked to my PCP and he prescribed a
proton pump inhibitor, because at that time you couldn't get
them over the counter.
Speaker 5 (05:34):
A proton pump inhibitor reduces stomach acid production by blocking
the enzyme responsible for acid release, helping to relieve conditions
like heartburn and acid reflux.
Speaker 1 (05:45):
I almost immediately start gaining weight, like ten pounds a
month weight, and I go to talk to my doctors.
I'm like, there's something wrong, like I shouldn't be gaining
weight this quickly, and they're like, well, we'll test your
thyroid and stuff like that. They tested other hormone and
they were like, well, you're about thirty two thirty three
now you just had kids.
Speaker 4 (06:04):
It just happens women gain weight.
Speaker 1 (06:06):
They're like, your metabolism slows down, and I'm like, well
it shouldn't come too a screeching hull.
Speaker 4 (06:12):
I was buying new pants every month.
Speaker 5 (06:15):
How did it impact her mindset and her self esteem?
Speaker 3 (06:19):
She started not wanting to have her pictures taken. Even
me just taking a quick snap of her, She's like,
you got to delete that, and she just didn't want
to remember those moments.
Speaker 1 (06:32):
I look back at pictures of me now and I
don't it's hard to like even recognize myself. And I
look at pictures of my fortieth birthday because I don't
remember it, and I just look miserable. I could tell
I was just I was in so much pain, and
then all these symptoms built up, and it's just so
unwell feeling. It's almost like I was a different person.
Speaker 5 (06:55):
So you're trapped within your own body, basically.
Speaker 1 (06:59):
That's a perfect way to explain it. I was like
in prison.
Speaker 5 (07:07):
Kelly's rapid weight gain began in her early thirties and
continued into her forties. Understandably, it didn't take long for
it to affect her mental well being, leaving her confused
and frustrated. And just when you thought that things couldn't
get any worse, you start manifesting another physical symptom.
Speaker 1 (07:29):
Yeah, I remember. It was February two thousand and seven.
I was sitting in my office at work, and I
live in upstate New York. It's cold and snowy here.
It's really bad in January and February, and I'm sitting
in my office and I have sweat pouring down from
the top of my head, like I am so hot,
and I am just profusely sweating for no reason. Now,
(07:52):
I'm talking like running down my face, running down through
my hair. I'd have to wear extra clothes underneath my
work clothes to absorb the sweat. It was bizarre, and
I put up with it until like June, and then
I contacted my PCP and said, this is a normal.
Speaker 5 (08:13):
What did you think? It was initially early onset of menopause.
Speaker 1 (08:17):
So he's like, let's see if you have a pituitary tumor,
we'll give you an MRI because they was thinking maybe
it was an endocrine thing with the weight increase and
the sweating and stuff like that. So I'm like, Okay,
we'll go for it. I'm the type of person I
always want to figure out what's wrong with me because
I want to fix it because I don't want to
feel that way anymore.
Speaker 5 (08:37):
And so they decide to test for pituitary issue yep,
and what do they uncover.
Speaker 1 (08:45):
What they found in the radiology report was a very
small three to four millimeter tumor. They thought, so your
peituitary glands about the size of a pee. And they
were thinking that they found a tumor on the anterior
on the front of my pituitary gland, so.
Speaker 3 (09:01):
They recommended removal of that, and I mean we had
quite a bit of hope that that might be the
right path.
Speaker 1 (09:07):
I am visited with another endochronologist who was a partner
at a pituitary tumor clinic where I live, and met
with a neurosurgeon as well, and I did have higher
growth hormone levels. And I'm getting sicker and sicker over this.
Another two year span, I was finally diagnosed with a
rare endocrn condition called acromegaly.
Speaker 5 (09:30):
And will you, just, in Layman's term, explain to me
what that is.
Speaker 1 (09:34):
It's called gigantism in the Princess Bride, the kind giant
he had in real life, gigantism. And it's a condition where,
depending on when it happens in your life, you can
get extraordinarily tall. When it happens and you're older, it
produces enough hormones where you do have hyperhydrosis, You do
gain weight, your hands, your feet, and your head can
(09:56):
grow a little bigger, but your rest of your body
won't get super tall if you're older. What it happens
body wide pain, migraine, stuff like that.
Speaker 5 (10:05):
Did you get any solace initially from that diagnosis?
Speaker 1 (10:09):
Yeah, it's finally like the enemy had a name, yeah,
and we know what's wrong with me, and finally I
can get some treatment. Acromaglia, I believe is a one
in one million diagnosis.
Speaker 5 (10:22):
What was the treatment and how did you respond?
Speaker 1 (10:25):
The first response is actually brain surgery.
Speaker 5 (10:31):
After about a decade of unexplained symptoms, Kelly finally felt
like she had some answers, but the solution would pose
new questions. The doctors plan to remove her pituitary gland,
a small piece sized gland located at the base of
the brain that produces several important hormones. This would reduce
(10:51):
the amount of growth hormone in her body, hopefully bringing
her some relief. Kelly, I'm already just thinking of you
as a young mother with a career, basically bursting out
of your clothing and then feeling like you can be
drenched in your own sweat at any given point and
(11:11):
not knowing what's happening. Yea, how difficult was that for
you to navigate on a daily basis?
Speaker 1 (11:18):
Extraordinarily because one of the symptoms I was developing was
also brain fog and inability to think clearly. And I'm
just trying my best, and I have a wonderful husband
who helps with my kids. Very fortunate, thank God. But
I remember one morning when I wasn't feeling well and
I must have taken the day off because I was sick,
(11:40):
and Chuck brought the girls to see me, and they
were they were in preschool daycare type of age, and
they both ran up and gave me their stuffed animals
so that I had someone to stay with me while
they were gone at school all day. And I thought,
how wonderful it is that I have kids who are
so little yet so incredibly compassionate. But I'm so mad
(12:02):
that we're not figuring this out, because they shouldn't have
to be in that position at this age to worry
about mommy while they're at preschool.
Speaker 5 (12:11):
Yeah, because you feel like you should be the caregiver.
Speaker 1 (12:15):
Yeah, I should be taking care of them, and it's
the opposite. And they're not even five years old.
Speaker 3 (12:21):
It's a little tough with the girls, not only because
I mean she just generally, whether she's in pain or
just always a little uncomfortable. I mean it made it
so she couldn't like play with them on the floor
or anything like that for an extended period of time.
She didn't toss them around or go for walks as
much as she really wanted.
Speaker 5 (12:44):
Before the surgery, Kelly took a glucose tolerance test, which
revealed an unexpected twist she didn't actually have acromegalie, leaving
the mystery of her condition unsolved. Despite this, doctors decide
to move forward with the surgery to address the risks
of her growth hormone levels causing an enlarged heart or
(13:07):
organ failure. And what did the surgery entail? How invasive
was it?
Speaker 1 (13:15):
So what they do is your pituitary gland is kind
of like in the middle of your brain, hanging down
from I'm going to call it a little dongle, and it's,
like I said, the size of a p So they
went in through my right nostril, removed some boning cartilage
from my skull, and they they cut to open like
there's a membrane around the pituitary gland, and they kind
(13:37):
of like vacuum out what they believe is tumor material and.
Speaker 4 (13:42):
Then they they back out and the goal is to
go home. The next day.
Speaker 1 (13:47):
I had a five day long spinal fluid leak, and
after the surgery, I did not wake up in the
timeframe that they thought I would And I remember waking
up in my room and the person standing above me
was actually my neurosurgeon, and I was in the brain
(14:08):
I see you. And I remember looking out the window
and thinking, why is it getting dark outside? Because my
surgery was again the first thing in the morning, like
six point thirty in the morning. And I looked up
and I saw my neural surgeon and he's asking me
the questions like you see on TV when you know
something really bad happened. Do you know your name? Do
(14:28):
you know what year it is? And do you know
who's the president? I remember thinking something bad happened.
Speaker 5 (14:39):
May I ask you, as her husband, what that was
like for you being on the other side of that
hospital door.
Speaker 3 (14:49):
Yeah, that was painful. I'd like to say that's where
all my gray hair came from, but that's probably not
true at all. She was in excruciating pain the whole
time she was there, because every time she moved around
her her head felt like it was gonna I don't
know if explode is the right word it Maybe imploded
is a better word. I was terrified of leaving her
(15:10):
alone in there, and I just I didn't want to
lose her.
Speaker 1 (15:14):
I am so fortunate that someone you know, what are
the lines in your wedding? It's sickness and in health.
Let me tell you, I'm so lucky I had someone
who was so willing to adhere to the you know,
but not because he had to, because he wants to.
Speaker 5 (15:29):
After Kelly's recovery and discharge, she thought the worst was
behind her, but the very next day she was back
in the hospital, this time with kidney stones. To make
matters worse, cat scans from her surgery revealed a breast mass,
sending her into the operating room again a week later. Thankfully,
it was benign. As she recovered from these setbacks, she
(15:52):
began to feel a small sense of relief. Unfortunately, that
relief didn't last long time.
Speaker 4 (16:00):
And went on though.
Speaker 1 (16:00):
I started gating weight again and having the symptoms come back.
Hyperhydrosis got worse, the flushing got worse, the body wide pain.
At one point, I'd taken a shower and the top
layer of my scalp underneath my hair, the whole thing
peeled off, and I was having this odor come out
of my body. I'd smell like chemicals. It was bizarre,
(16:22):
and if I would drink a decaf coffee. I would
smell a campfire smoke, and I was finding my lymph
nodes in my armpits swelling up.
Speaker 4 (16:30):
And I was just.
Speaker 1 (16:31):
Getting bigger and bigger. I was almost two hundred pounds.
Speaker 5 (16:35):
What kept you going?
Speaker 1 (16:37):
My kids and my husband, and like my family, I
can't imagine not being here for them. So I remember
one time in February twenty fifteen, I'm laying in bed,
It's like seven o'clock at night, and I hear my
family in the living room watching TV. I think they
were watching, you know, the game shows or whatever, and
I'm like, I had this number running through my head
(16:58):
over and over again, digits one, two, three, you know, four, five,
six seventy nine, not that number, but over and over
and over like.
Speaker 4 (17:07):
Five minutes, like what is that? What is that? What
is that? Why do I know that? I don't know
what that number is?
Speaker 1 (17:11):
What is it? And then it occurred to me it
was my own social Security number that I've known since
I was in eighth grade. And I didn't know what
it was. I knew it, but I'm like, oh, something's
really wrong with me.
Speaker 3 (17:26):
She was always kind of inn a little bit of
a haze. She wasn't quite as chris and witty as
she used to be. Then it takes her a longer
road to get the answers for most things.
Speaker 5 (17:39):
Post surgery, These cognitive issues piled onto years of physical symptoms.
Once again, Kelly turned to her doctors for help.
Speaker 1 (17:49):
And that's the thing is when you are chronically ill
in trying to figure out what's wrong with you, the
stress of going to an appointment, the nervousness of meeting
a new doctor, and then finding out that that's not
what's wrong with you, over and over and over again.
It's like constantly getting bamboozled. After another doctor appointment, they
(18:09):
told me they didn't know what was wrong with me,
And I locked myself in my bedroom because it was
August and my kids were still home from school because
they've already worried enough about me. And I did one
thing I'd never done before. And I don't even know why.
I got really mad. And I wasn't mad at my doctor,
because she's wonderful. I was mad at this system where
(18:30):
we don't easily figure out what's wrong with people, and
I don't know.
Speaker 4 (18:32):
I felt angry. I got really, really mad.
Speaker 5 (18:36):
Despite all she'd endured, Kelly refused to let her struggles
define her. After multiple surgeries and relentless symptoms, she knew
it was time to take the next steps into her
own hands. Determined to find concrete answers, Kelly knew there
was one place that could offer her hope, the Mayo Clinic.
Speaker 1 (18:56):
I was getting to the point where I'm like, there
is something else wrong with me.
Speaker 5 (19:02):
We'll be right back with Symptomatic, a medical mystery podcast.
Now back to Symptomatic, a medical mystery podcast. For Kelly Dubois,
it all began with the diagnosis of a hiatal hernia
and sudden, unexplained weight gain. This was followed by two
(19:25):
decades of illness and brain surgery that left her with
irreparable damage. Throughout this time, Kelly fought a relentless battle
seeking a cause, educating herself and pushing her concerns aside,
only for her condition to persist. That's when she decided
the only thing left to do was to pursue the
(19:46):
top researchers and doctors at the Mayo Clinic, a renowned
medical center known for its integrated healthcare, education and research,
to take on her case.
Speaker 1 (20:04):
And they said, well, let's talk about what you think
might be wrong with you. So, in a nutshell, I'm like,
I think I was misdiagnosed. I think I don't have
an endocrine condition. I think I might have brain damage
from the surgery. But I go I think that the
big thing that's really wrong with me has got something
to do with medications. And they're like, okay, And I
(20:25):
was there three weeks later.
Speaker 5 (20:27):
Wow, I love this story, Kelly. I love that the
fact you empowered yourself out of just fear and helplessness.
You hit this rock bottom and you propelled yourself forward
from it.
Speaker 1 (20:42):
Yeah, and like, I knew there was something wrong with
me that we haven't figured out.
Speaker 5 (20:48):
The following months were a whirlwind of flights between Kelly's
home in New York and the Mayo Clinic in Minnesota.
Visit's filled with endless tests and consultations. The shuffle halted
when Kelly was connected with the Mayo Clinics doctor Eric Mattey,
marking a critical turning point in her search for answers.
(21:09):
At Mayo Clinic, people are often you know, they're desperate
for help by the time they get to you, guys,
because you are the gold standard for answers and solutions
for people who have been seeking them, sometimes like Kelly
for over a decade. Do you remember Kelly the first
time you met.
Speaker 2 (21:29):
I do just like yesterday, And there are patients who
come in and you could tell that they other point
where they're really looking for answers. And you know, I
talk about the importance of really listening to our patients,
and I think one of the things that Mayo Clinic
does very well has to do with collaboration. And if
(21:51):
you go back to Kelly's story, it wasn't just seeing
me by it or seeing multiple providers at Mayo Clinic
who took the time to really review her condition, her case.
And Kelly came in, you could tell that she had
done a lot of research, she had done a lot
of reading, She had a zale for life, and so
she was ready to get the answers to continue to
(22:13):
go back and live a good quality life.
Speaker 5 (22:16):
Doctor Mattee specializes in pharmacogenomics, which focuses on understanding how
a person's genetics affect their response to medications. His work
is at the forefront of personalized medicine, using genetic insights
to create treatments tailored to each individual. What was it
that struck you in retrospect as so unique about her case?
Speaker 2 (22:41):
When Kelly came in and talked about the medications that
she was on, and I review the medications again going
back to the basics of has this medication been effective?
Has this medication caused any side effect? There very few
that line up with what was expected for patients who
(23:04):
were not metabolizing specific medication. In the case of Kelly,
one of the genes, she was not a normal metabolizer
of that gene. And just for your listeners in general,
for some medications and not all medications that have a
dry gene interaction, if a patient does not metabolize the
(23:24):
medication as expected, some medication serum concentration can go up
and cause some side effects. And so in Kelly's case,
after understanding that there was a potential that if we
knew more about her genes, we could shere light on
why she was experiencing the side effects from this particular medication.
Speaker 5 (23:46):
Kelly had a gut feeling for a while that her
medications might be the source of her issues, and doctor
Mattee agreed. He suggested pharmacogenomics testing to take a closer
look at her genes and how they were interacting with
the treatments. Finally, a comforting step forward, it's.
Speaker 1 (24:06):
Genetic testing where they look at how your body metabolizes
medications and see if you have any genetic mutations and
some of the enzyme systems to see if your body
metabolizes medications as intended or if you have polymorphisms that
make you metabolize them slower or faster.
Speaker 2 (24:26):
I think for Kelly's test, it was the second generation,
so I think it was a nineteen panel that was
offered for if I remember in that right, yes, and
so she was part of that second group of i'll
say patients who were experienced or had that testing offered
to them.
Speaker 5 (24:43):
So the new frontier, the new frontier of.
Speaker 1 (24:45):
Testing is they have a patient portal, just like every
major hospital system does.
Speaker 5 (24:51):
Is this how you got your diagnosis?
Speaker 1 (24:53):
This is how I found out because we had a
call scheduled for later, like after the results came in,
and I'm watching and then pop into the portal and
there I keep seeing the word polymorphism, polymorphism, polymorphism. There
are total of nine tests and I had like more
than seven, and I'm like it sounds horrible, but I'm like, yes, Like,
(25:15):
we finally figured out what's wrong with me, Oh, twelve
years later.
Speaker 5 (25:21):
If you had to, in the simplest possible way, define polymorphism,
how would you do that?
Speaker 2 (25:29):
Well, it has to do with the variabilities within a
genetic profile. It has to do with the variability within
our our genes that affects how we respond to medications
differently within each individual.
Speaker 1 (25:44):
And I got on the phone with him and he's like,
you had more than seven, This would explain why you
feel so unwell with all these medications.
Speaker 3 (25:54):
She started reading it and then she's looking at the
drug interactions and they have a list of red medications,
which stuff that you should just not be ever taking
and certainly not for years at a time. And the
ascid reducers for her stomach were in that group of
medications that she should just never.
Speaker 5 (26:12):
Be taking, and she'd been on them for a decade
at that point, over a decade.
Speaker 3 (26:16):
Yeah, and it's just all stemming from the heartburn. And
they basically say, yeah, you're not metabolizing this as fast
as a normal person. So it just basically sits there,
not doing anything.
Speaker 2 (26:31):
And then when the result came back, it was like, Wow,
we could see into the future, right only if we
knew this information. But there again, this is the power
of science. Science continues to evolve, Science continues to enlighten
us as to how best we can help our patients,
and I think for most patients, even in particular with Kelly,
(26:52):
when she realized that it wasn't in her head, it
was her genes that by itself led to a really
and I could tell that there was resolution, there was comfort.
Speaker 5 (27:06):
At last, Kelly had a clear picture of what had
been plaguing her polymorphisms. With all her determination and relentless searching,
she finally found a cutting edge team that didn't just
treat her symptoms, but uncovered the true cause. It was
the breakthrough she had sought for decades. How underdiagnosed do
(27:29):
you think the issue is?
Speaker 2 (27:32):
About ninety nine percent of the population will have at
least one polymorphism within the farmacogenomic testing, at least one
gene that is not normal that may have a formacogenomic implication.
Speaker 5 (27:48):
Under doctor Mattey's guidance, Kelly and her doctors began gradually
tapering her off of medications one at a time to
identify which ones were causing harm. Instead, of helping, some
medications were actually exacerbating her condition.
Speaker 1 (28:03):
Between January twenty sixteen and July twenty sixteen, we adjusted
my meds based on the new genetic data we had,
and without exercising or changing my diet, I lost fifty
pounds wow. And in the following year I lost another
twenty pounds. I saw my PCP after I started going
to Mayo Clinic and he hadn't seen me for like
(28:25):
four or five months, and he walked into the room
and his jaw dropped because I lost so much weight.
He's like, well, your kids must love having their mom back.
And I said, they don't recognize me. They were so
little when I started getting sick, that actually don't recognize
what I look like now. And he goes, oh, like
(28:46):
it didn't occur to him.
Speaker 5 (28:48):
What was that like? To help her uncover the woman
she was and felt she had lost.
Speaker 2 (28:58):
I think the best as that I can give you
is what we do at Mayo Clinic, which is the
needs of the patient always comes first, and when we
are able to help our patients achieve their needs, which
is in Kelly's case, a zell to live life to
the fullest. I think that is the greatest joy that
(29:21):
all clinicians, include myself hopeful for our patients when we're
able to achieve that.
Speaker 5 (29:29):
Almost immediately, Kelly began to look like and more importantly,
feel like herself again. She was diligent in preventing this
from happening again, becoming overly communicative with her doctors and
pharmacists to avoid any side effects caused by her medications.
Speaker 1 (29:46):
These polymorphisms, they're not rare. There are people sick in
the hospital right now who The people do have a
medical condition, but on top of it, they probably have
polymorphisms that are affecting how their body metabolizes the medications
that being given, and no one knows about it. It's
mind boggling to me that so little of this is
known about now.
Speaker 5 (30:07):
I should think, though, as a mother, since we've used
the word genetics a lot in this conversation, that you
must have had that initial relief as you began to heal,
But then did you start looking at your daughters with
fear that they could experience the same thing.
Speaker 1 (30:25):
What happened to me will absolutely positively never happened to
my daughters. Everyone who's related to me has had pharmacogenom
accessing now. My husband has too, my daughters have pots
and eds. I'm hoping that these conditions won't be considered
as rare years from now when people know.
Speaker 4 (30:43):
More about them.
Speaker 5 (30:44):
So, how has watching you navigate your own health battles
altered the way your daughters approach theirs?
Speaker 1 (30:54):
They definitely demand doctors that they like who will listen
to them, and I love it.
Speaker 4 (30:58):
They have a wonderful piece.
Speaker 1 (31:01):
But what I appreciate about this lady is that she
took my daughters as patients now knowing what's.
Speaker 5 (31:06):
Wrong with me, because in an odd way, it's all related. Yeah,
Kelly was driven to a breaking point in her search
for medical explanation. Eventually she took matters into her own hands,
using her determination to find answers. In doing so, she
not only inspired others, but also continues to push forward
(31:28):
the conversation around genetic testing and its role in individualized care.
Speaker 1 (31:33):
I have a new PCP, but he and my nephrologists
are friends in real life, and they both took me
aside after we figured out what's going on, and they
said thank you, and I'm like for what, and they're like, well,
not only do we know about pharmacogenomics testing, and if
we have a patient like say, well, maybe this medicine's
not right for me, and we can suggest it to them.
Speaker 4 (31:55):
But they both told me, we know what it means.
Speaker 1 (31:58):
Now when a patient advocates for themselves as much as
you did, and we're better doctors.
Speaker 5 (32:04):
Because of you, that's beautiful.
Speaker 1 (32:06):
That means a lot because doctors, you know how many
are going to say that they learned from a patient,
and I appreciate that. And if I can help them
help other people, that's wonderful because I don't want anyone
to go through what I went through.
Speaker 4 (32:20):
It was horrible.
Speaker 5 (32:22):
So, doctor, what gives you hope? What could the future
of medicine look like with more genetic testing.
Speaker 2 (32:30):
In the space of formacogenomics in general, Our hope is
that we could have preemptive formacogenomic testing, whereby every patient
that walks into a clinic will have pharmacogenomic testing. Then thereby,
in the future, if there's a new medication that's going
to be prescribed, as we are in the world of
artificient intelligence, latificial intelligence, will be able to say, oh,
(32:50):
this patient has this test, and then this medication may
not be the best. So this medication may cause some
side effects, started to reduce those, So this medication is
the right way continue. We are getting there, but we
are not there yet, and so I want your listeners
to understand that if they have questions, they should talk
to a pharmacist, get some answers, and if testing is appropriate,
(33:13):
moved that direction. But again the hope is that the
time will come we will have more of the preemptive
from oco genomic testing. There's a lot of information that
again Mayo Clinic can share with you all you know,
the clinical from ourco genomic Implementation Consocium SEEPEG to be
shot on their website. Provide a lot of great resource
about dry gene guidelines. That is another great resource that
(33:38):
provide great guidelines for both patients and I think practitioners.
Speaker 5 (33:44):
What do you hope people take away from Kelly's story.
Speaker 3 (33:48):
I hope they recognize from the point where they start
getting treated for something, if new things start to appear
and you're still being treated for that original sim maybe
they're not finding the problem that you need to solve,
or maybe there's another issue that also needs to be
solved in conjunction with that.
Speaker 1 (34:08):
If I could figure this out, you could too. And
if you know you're sick, whether it's the issue I
have or some other issue, and you genuinely know there's
something wrong with you, work to figure it out. What's
invaluable is that we do have the Internet, and there
are lots of valuable resources out there. I spend a
(34:29):
lot of my time on Mayo Clinic. I think it's
dot org. I look at Stanford's website. I look at
Johns Hopkins, I look at NIH. I look at all
solid sources like that, and looking at those sources, I
save my own life kind of. My name is Kelly,
and for over twelve years I struggled with misdiagnoses and
(34:50):
medical conditions before being diagnosed with drug metabolism polymorphisms.
Speaker 5 (34:57):
Next week on Symptomatic, we're excited to interduce Use, a
special bonus series you'll be hearing throughout season three Symptomatic
house Calls. In these episodes, we'll reconnect with past guests
to get updates on how they've been managing their conditions
and how their lives have changed since appearing on the show.
In our first house call, we revisit case number two
(35:19):
Athena from season one. Spoil alert for those who haven't
heard this episode, Athena was diagnosed with Hydrodenitis superativa, a
debilitating chronic inflammatory condition. Join us as we catch up
with Athena and learn how her life with HS has
changed since appearing on Symptomatic.
Speaker 6 (35:38):
It's really good to be able to do this follow
up from such a good place in my life, both
physically and emotionally. I'm happy to report that I'm in
the best health, probably of my life.
Speaker 5 (35:51):
Don't miss this heartfelt update with Athena and look out
for more house calls later this season. As always, we
would love to hear from you. Send us your thoughts
on this episode or share a medical mystery of your
own at Symptomatic at iHeartMedia dot com, and please rate
and review Symptomatic wherever you get your podcasts. We'll see
(36:13):
you next time. Until then, be well. Symptomatic is a
production of Ruby Studio from iHeartMedia. Our show is hosted
by me Lauren Bret Pacheco. Executive producers are Matt Romano
and myself. Our EP of post production is James Foster.
Our supervising producer is Cierra Kaiser. Our writers are John
(36:34):
Irwin and Diana Davis, and Our editor is Cierra Spreen.
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