You Might Also Like: Symptomatic: A Medical Mystery Podcast

Summary

Podcast Summary: Symptomatic: A Medical Mystery Podcast – "You Might Also Like" Episode

Introduction

In this compelling episode of Symptomatic: A Medical Mystery Podcast, host Lauren Bright Pacheco delves deep into the challenging medical journey of Kelly Dubois. Kelly's story is a poignant exploration of chronic illness, misdiagnoses, and the relentless pursuit of answers within the medical system. This summary captures the essence of Kelly's experiences, the insights shared by her husband Chuck Dubois, and the expertise of Dr. Eric Matei from the Mayo Clinic.

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Kelly's Early Health Struggles

Kelly Dubois's health challenges began unexpectedly in her early adulthood, a stark contrast to her previously healthy life.

• Initial Symptoms:

  • "I was very healthy my entire life up until this happened." (00:18)
  • At 16, Kelly started experiencing migraine headaches, a condition prevalent in her family. Despite trying various medications, effective relief remained elusive.
  • "I was awake for two days with a headache, or they would knock me out and I would sleep." (03:02)

• First Pregnancy Complications:

  • During her first pregnancy, Kelly developed heartburn and was diagnosed with a hiatal hernia.
  • "I had a hiatal hernia. So the sphincter ends up failing at the base of the esophagus..." (04:48)
  • This led to rapid weight gain, prompting concerns from both Kelly and her husband.

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Impact on Personal Life and Mental Health

Kelly's physical symptoms took a significant toll on her mental well-being and family life.

• Emotional Toll:

  • "I was in so much pain. And then all these symptoms built up and it just so unwell feeling. It's almost like I was a different person." (06:32)
  • Her husband, Chuck, observed the changes in her demeanor and self-perception.
  • "She started not wanting to have her pictures taken... She didn't want to remember those moments." (06:15)

• Family Dynamics:

  • Despite her struggles, Kelly and Chuck maintained a strong family bond.
  • "I have a wonderful husband who helps with my kids. Very fortunate, thank God." (11:18)

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The Quest for Diagnosis

Kelly's journey through the medical maze highlights the complexities and frustrations of seeking a correct diagnosis.

• Misdiagnoses and Surgeries:

  • Initially suspected of having a pituitary tumor, Kelly underwent brain surgery to remove what was believed to be a tumor on her pituitary gland.
  • "What they Found in the radiology report was a very small 3-4-millimeter tumor." (08:43)
  • Post-surgery, Kelly faced additional health setbacks, including kidney stones and a benign breast mass.

• Continued Symptoms:

  • Despite interventions, Kelly's symptoms persisted and worsened.
  • "Hyperhidrosis got worse, the flushing got worse, the body wide pain." (15:59)
  • Cognitive issues like brain fog compounded her challenges.
  • "I was trapped within my own body, basically." (06:59)

---

Breakthrough at Mayo Clinic

After years of uncertainty, Kelly found hope at the Mayo Clinic, where Dr. Eric Matei played a pivotal role in her diagnosis.

• Pharmacogenomics Testing:

  • Dr. Matei specializes in pharmacogenomics, the study of how genetics affect an individual's response to medications.
  • "He suggested pharmacogenomics testing to take a closer look at her genes and how they were interacting with the treatments." (24:30)
  • Through genetic testing, it was discovered that Kelly had multiple polymorphisms affecting her medication metabolism.
  • "I had more than seven. This would explain why you feel so unwell with all these medications." (26:14)

• Tailored Treatment:

  • Armed with genetic insights, Kelly and her medical team could adjust her medications appropriately.
  • "Between January 2016 and July 2016, we adjusted my meds based on the new genetic data we had. And without exercising or changing my diet, I lost 50 pounds." (28:48)

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Recovery and Advocacy

Kelly's successful diagnosis and treatment not only restored her health but also transformed her into an advocate for pharmacogenomics.

• Restoration of Health:

  • Significant weight loss and symptom relief marked Kelly's return to her former self.
  • "I lost 50 pounds... and in the following year, I lost another 20 pounds." (28:48)

• Impact on Family and Healthcare:

  • Kelly ensured that her family members underwent pharmacogenomics testing to prevent similar issues.
  • "Everyone who's related to me has had pharmacogenomics Testing now, and my husband has, too." (31:10)
  • Her advocacy influenced her doctors, emphasizing the importance of listening and collaboration in patient care.
  • "They said, thank you... we're better doctors because of you." (32:18)

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Future Implications and Hope

Dr. Matei discusses the future of pharmacogenomics and its potential to revolutionize personalized medicine.

• Preemptive Testing:

  • "Our hope is that we could have preemptive pharmacogenomic testing whereby every patient that walks into a clinic will have pharmacogenomic testing." (33:14)
  • This approach aims to tailor medications from the outset, minimizing adverse reactions and enhancing treatment efficacy.

• Educational Resources:

  • Dr. Matei highlights resources like the Clinical Pharmacogenomic Implementation Consortium (CPIC) for patients and practitioners.
  • "They provide a lot of great guidelines for both patients and I think practitioners." (33:14)

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Closing Thoughts

Kelly Dubois's journey underscores the critical role of personalized medicine and the need for ongoing advancements in genetic testing. Her resilience and proactive approach not only healed her but also paved the way for improved patient care practices.

• Chuck Dubois's Reflections:

  • "She started reading it, and then she's looking at the drug interactions... it's all stemming from the heartburn." (26:38)

• Kelly's Final Message:

  • "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." (34:53)

---

Conclusion

This episode of Symptomatic is a testament to the power of perseverance in the face of medical adversity. Through Kelly's story, listeners gain insight into the complexities of chronic illness, the importance of patient advocacy, and the promising future of pharmacogenomics in personalized healthcare.

Transcript

[Lauren Bright Pacheco]

Ruby.

[Kelly Dubois]

It took a couple of years until more symptoms started. I look back at pictures of me now, and it's hard to even recognize myself.

[Dr. Eric Matei]

She was ready to get the answers, to continue to go back and live a good, quality life.

[Chuck Dubois]

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.

[Kelly Dubois]

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 happened. Do you know your name? Do you know what year it is? And do you know who's the president?

[Narrator]

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. These are their stories. I'm Lauren Bright Pacheco, and this is symptomatic.

[Lauren Bright Pacheco]

You immediately notice Kelly Dubois. Intelligence, drive, and analytical nature. It's clear she is not one to give up easily. These very traits have helped her navigate some of the most challenging moments in her life.

[Narrator]

Tell me a little bit about you. What are your passions? Anybody who knows you, what would they say you love?

[Kelly Dubois]

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 enjoyed that. But the one thing I wanted to be was a mom.

[Lauren Bright Pacheco]

Kelly has achieved that goal alongside her husband Chuck, in a relationship founded on countless shared connections.

[Chuck Dubois]

We're both tackies. 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.

[Lauren Bright Pacheco]

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.

[Narrator]

So, just in terms of your health challenges, looking back now, is there a time where you specifically remember a symptom manifesting itself that seemed unusual?

[Kelly Dubois]

I was actually thinking you would ask me this because I was very healthy my entire life up until this happened. But when I look back when I was 16, 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. 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 knock me out and I would sleep. 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 sleeping constantly. So I contacted my doctor. I'm like, this is not working. I can't live like this.

[Narrator]

That's fascinating. So there are clues as early as 16 and 19 as to what would await you in your adult health challenges.

[Kelly Dubois]

Yeah, it's very interesting hindsight, you know, 20, 20, always.

[Lauren Bright Pacheco]

What Kelly didn't realize her reaction to common 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.

[Narrator]

When is the next time that something happens to you physically, that you realize something is really amiss?

[Kelly Dubois]

So I'm about 32. I'd had Jenna 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. And it ends up I had a hiatal hernia. So the sphincter ends up failing at the base of, I think, the esophagus, and part of the stomach comes up, and you have stomach acid coming up into your esophagus.

[Chuck Dubois]

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.

[Kelly Dubois]

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.

[Narrator]

A proton pump inhibitor reduces stomach acid production by blocking the enzyme responsible for acid release, helping to relieve conditions like.

[Lauren Bright Pacheco]

Heartburn and acid reflux.

[Kelly Dubois]

I almost immediately start gaining weight, like 10 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 hormones, and they're like, well, you're about 32, 33 now. You just had kids. It just happens. Women gain Weight. They're like your metabolism slows down. And I'm like, well, it shouldn't come to a screeching halt. I was buying new pants every month.

[Narrator]

How did it impact her mindset and her self esteem?

[Chuck Dubois]

She started not wanting to have her pictures taken. Even me just taking a quick snap of her. She's like, you gotta delete that. She just didn't want to remember those moments.

[Kelly Dubois]

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 40th birthday because I don't remember it. And I just look miserable. I can tell. I was just. I was in so much pain. And then all these symptoms built up and it just so unwell feeling. It's almost like I was a different person.

[Narrator]

So you're trapped within your own body, basically.

[Kelly Dubois]

That's a perfect way to explain it. I was like in prison.

[Lauren Bright Pacheco]

Kelly's rapid weight gain began in her early 30s and continued into her 40s. Understandably, it didn't take long for it to affect her mental well being, leaving her confused and frustrated.

[Narrator]

And just when you thought that things couldn't get any worse, you start manifesting another physical symptom.

[Kelly Dubois]

Yeah, I remember. I think it was February 2007. 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. No, 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 isn't normal.

[Narrator]

What did you think it was initially? Early onset of menopause.

[Kelly Dubois]

So he's like, let's see if you have a pituitary tumor. We'll give you an mri. Because he 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.

[Narrator]

And so they decide to test for a pituitary issue.

[Kelly Dubois]

Yep.

[Narrator]

And what did they uncover?

[Kelly Dubois]

What they Found in the radiology report was a very small 3-4-millimeter tumor. They thought so your pituitary gland's about the size of a pea. And they were thinking that they found a tumor on the anterior on the front of my pituitary gland.

[Chuck Dubois]

So they recommended removal of that. And I mean, we had quite a bit of hope that that might be the right path.

[Kelly Dubois]

I visited with another endocrinologist 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, a rare endocrine condition called acromegaly.

[Narrator]

And will you just in layman's term, explain to me what that is?

[Kelly Dubois]

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 hyperhidrosis, you do gain weight, your hands, your feet and your head can grow a little bigger, but the rest of your body won't get super, super tall if you're older when it happens. Body wide pain, migraines, stuff like that.

[Narrator]

Did you get any solace initially from that diagnosis?

[Kelly Dubois]

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. Acromegaly, I believe, is a 1 in 1 million diagnosis.

[Narrator]

What was the treatment and how did you respond?

[Kelly Dubois]

The first response is actually brain surgery.

[Lauren Bright Pacheco]

After about a decade of unexplained symptoms, Kelly finally felt like she had some answers. But the solution would pose new questions.

[Narrator]

The doctors planned to remove her pituitary gland, a small pea sized gland located at the base of the brain that produces several important hormones. This would reduce 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 not knowing what's happening.

[Kelly Dubois]

Yeah.

[Narrator]

How difficult was that for you to navigate on a daily basis?

[Kelly Dubois]

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. And Chuck brought the girls to see me and they were, they were in like 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 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.

[Narrator]

Yeah, because you feel like you should be the caregiver.

[Kelly Dubois]

Yeah, I should be taking care of them. And it's the opposite. And they're not even five years old.

[Chuck Dubois]

It's a little tough with the girls, but 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.

[Lauren Bright Pacheco]

Before the surgery, Kelly took a glucose tolerance test, which revealed an unexpected twist. She didn't actually have acromegaly, leaving the mystery of her condition unsolved. Despite this, doctors decided to move forward with the surgery to address the risks of her growth hormone levels causing an enlarged heart or organ failure.

[Narrator]

And what did the surgery entail? How invasive was it?

[Kelly Dubois]

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 pea. So they went in through my right nostril, removed some bone and cartilage from my skull, and they, they cut to open like there's a membrane around the pituitary gland and they kind of like vacuum out what they believe is tumor material and then they back out and the goal is to go home. The next day, 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 icu. 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 6:30 in the morning, 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. Do you know your name? Do you know what year it is? And do you know who's the president? I remember thinking something bad happened.

[Narrator]

May I ask you, as her husband, what that was like for you, being on the other side of that, you know, hospital door?

[Chuck Dubois]

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 head felt like it was going to. I don't know if explode is the right word. Maybe implode is a better word. I was terrified of leaving her alone in there, and I just. I didn't want to lose her.

[Kelly Dubois]

I am so fortunate that someone, you know, what are the lines in your wedding? In sickness and in health. Let me tell you, I'm so lucky. I had someone who was so willing to adhere to that, you know, and. But not because he had to, because he wants to.

[Lauren Bright Pacheco]

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 began to feel a small sense of relief. Unfortunately, that relief didn't last long.

[Kelly Dubois]

As time went on, though, I started gaining weight again and having the symptoms come back. Hyperhidrosis 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 smelled like chemicals. It was bizarre. And if I would drink a decaf coffee, I would smell like campfire smoke. And I was finding my lymph nodes in my armpits swelling up. And I was just getting bigger and bigger. I was almost £200.

[Narrator]

What kept you going?

[Kelly Dubois]

My kids and my husband. Like my. My family, I can't imagine not being here for them. So I remember one time in February 2015, I'm. I'm laying in bed, it's like 7 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 over and over again. A certain number of digits. 1, 2, 3, you know, 4, 5, 6, 7, 8, 9. Not that number, but over and over and over, like 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. 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.

[Chuck Dubois]

She was always kind of in a little bit of a haze. She wasn't quite as crisp and witty as she used to be then it takes her a longer road to get the answers for most things.

[Lauren Bright Pacheco]

Post surgery, these cognitive issues piled onto years of physical symptoms. Once again, Kelly turned to her doctors for help.

[Kelly Dubois]

And that's the thing is when you are chronically ill and 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 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 the system where we don't easily figure out what's wrong with people. And I don't know, I felt angry. I got really, really mad.

[Lauren Bright Pacheco]

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.

[Kelly Dubois]

I was getting to the point where I'm like, there is something else wrong with me.

[Narrator]

We'll be right back with Symptomatic A Medical Mystery podcast.

[Kelly Dubois]

Join me, Dr. Panico, with Cyndi Lauper and chef Michelle Bernstein to talk about plaque psoriasis and psoriatic arthritis. The potential connection and risk of developing permanent joint damage.

[Cyndi Lauper]

Cosentyx Secukinumab is prescribed for adults with moderate to severe plaque psoriasis. 300mg dose and adults with active psoriatic arthritis 150mg dose. Don't use if you're allergic to Cosentyx before starting, get checked for tb, serious allergic reactions, severe skin reactions that look like eczema, and an increased risk of infections, some fatal have occurred. It may lower your ability to fight infections, so tell your doctor if you have an infection or symptoms like fevers, sweats, chills, muscle aches or cough. Had a vaccine or plan to or if IBD symptoms develop or worsen. Learn more at 1844cosentyx or cosentyx.com Cindy.

[Narrator]

Now back to Symptomatic A Medical Mystery Podcast.

[Lauren Bright Pacheco]

For Kelly Dubois. It all began with a diagnosis of a hiatal hernia and sudden, unexplained weight gain. This was followed by two 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 top researchers and doctors at the Mayo Clinic, a renowned medical center known for its integrated health care, education and research, to take on her case.

[Kelly Dubois]

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 was there three weeks later.

[Narrator]

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.

[Kelly Dubois]

Yeah. And like, I knew there was something wrong with me that we haven't figured out.

[Lauren Bright Pacheco]

The following months were a whirlwind of flights between Kelly's home in New York and the Mayo Clinic in Minnesota, visits filled with endless tests and consultations.

[Narrator]

The shuffle halted when Kelly was connected.

[Lauren Bright Pacheco]

With the Mayo Clinic's Dr. Eric Matei, marking a critical turning point in her.

[Narrator]

Search for answers 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?

[Dr. Eric Matei]

I do. Just like yesterday and there are patients who come in, and you could tell that they're at the point where they are really looking for answers. And 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 you go back to Kelly's story, it wasn't just seeing me, but it was seeing multiple providers at Mayo Clinic who took their 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 zeal for life. And so she was ready to get the answers, to continue to go back and live a good, quality life.

[Lauren Bright Pacheco]

Dr. Matei 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.

[Narrator]

What was it that struck you, in retrospect, as so unique about her case?

[Dr. Eric Matei]

When Kelly came in and talked about the medications that she was on, and I reviewed the medications again, going back to the basics of has this medication been effective? Has this medication caused any side effects? There were a few that line up with what was expected for patients who were not metabolizing a 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 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 shed light on why she was experiencing the side effects from this particular.

[Lauren Bright Pacheco]

Medication, Kelly had a gut feeling for a while that her medications might be the source of her issues. And Dr. Matei 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.

[Kelly Dubois]

It's genetic testing, where they look at how your body metabolizes medications and see if you have any genetic mutations in 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.

[Dr. Eric Matei]

I think for Kelly's test, it was the second generation, so I think it was a nygene panel that was offered for her, if I'm remembering that right.

[Lauren Bright Pacheco]

Yes.

[Dr. Eric Matei]

And so she was part of that second group of, I'll say, patients who were experienced or had that testing offered to them.

[Narrator]

So the new frontier. The new frontier of testing.

[Dr. Eric Matei]

Yes, yes.

[Kelly Dubois]

They have a patient portal, just like every major hospital system does.

[Narrator]

Is this how you got your diagnosis?

[Kelly Dubois]

This is how I found out, because we had a call scheduled for later, like after the results came in, and I'm watching them pop into the portal, and they're. I keep saying the word polymorphism. Polymorphism. Polymorphism. There were a total of nine tests, and I had like more than seven. And I'm like, it sounds horrible, but I'm like, yes. Like we finally figured out what's wrong with me.

[Lauren Bright Pacheco]

Oh.

[Narrator]

12 years later, if you had to, in the simplest possible way, define polymorphism, how would you do that?

[Dr. Eric Matei]

Well, it has to do with the variabilities within our genetic profile. It has to do with the variability within our genes that affects how we respond to medications differently within each individual.

[Kelly Dubois]

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.

[Chuck Dubois]

She started reading it, and then she's looking at the drug interactions, and they have a list of red medications, which are stuff that you should just not be ever taking, and certainly not for years at a time. And the acid reducers for her stomach were in that group of medications that she should just never be taking.

[Narrator]

And she'd been on them for a decade at that point. Over a decade, yeah.

[Chuck Dubois]

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.

[Dr. Eric Matei]

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, once she realized that it wasn't in her head, it was her genes, that by itself led to a relief. And I could tell that there was resolution, there was comfort.

[Lauren Bright Pacheco]

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.

[Narrator]

How, under diagnosed do you think the issue is?

[Dr. Eric Matei]

About 99% of the population will have at least one polymorphism within the pharmacogenomic testing, at least one gene that is not normal, that may have a pharmacogenomic implication.

[Lauren Bright Pacheco]

Under Dr. Matei'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.

[Kelly Dubois]

Between January 2016 and July 2016, we adjusted my meds based on the new genetic data we had. And without exercising or changing my diet, I lost 50 pounds.

[Narrator]

Wow.

[Kelly Dubois]

And in the following year, I lost another 20 pounds. I saw my PCP after I started going to Mayo Clinic, and he hadn't seen me for like, four or five months. And he walked into the room and his jaw dropped because I had 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. And he goes, oh, like it didn't occur to him.

[Narrator]

What was that like? To help her uncover the woman she was and felt she had lost.

[Dr. Eric Matei]

I think the best answer 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 zeal to live life to the fullest. I think that is the greatest joy that all clinicians, including myself, hope for for our patients when we're able to achieve that.

[Lauren Bright Pacheco]

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. Avoid any side effects caused by her medications.

[Kelly Dubois]

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 they're being given and no one knows about it. It's mind boggling to me that so little of this is known about now.

[Narrator]

I should think there was 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?

[Kelly Dubois]

What happened to me will absolutely, positively never happen to my daughters. Everyone who's related to me has had pharmacogenomics Testing now, and 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 more about them.

[Narrator]

So how has watching you navigate your own health battles altered the way your daughters approach theirs?

[Kelly Dubois]

They definitely demand doctors that they like who will listen to them, and I love it. They have a wonderful pcp. But what I appreciate about this lady is that she took my daughters as patients, now knowing what's wrong with me.

[Narrator]

Because in an odd way, it's all related.

[Kelly Dubois]

Yeah.

[Lauren Bright Pacheco]

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 the conversation around genetic testing and its role in individual care.

[Kelly Dubois]

I have a new pcp, but he and my nephrologist 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, but they both told me, we know what it means now when it patient advocates for themselves as much as you did, and we're better doctors because of you.

[Narrator]

That's beautiful.

[Kelly Dubois]

That means a lot, because doctors, you know, how many are going to say that they learn 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. It was horrible.

[Lauren Bright Pacheco]

So, doctor, what gives you hope? What could the future of medicine look like with more genetic testing?

[Dr. Eric Matei]

In the space of pharmacogenomics in general, our hope is that we could have preemptive pharmacogenomic 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 artificial intelligence, artificial intelligence will be able to say, oh, this patient has this testing done. This medication may not be the best, or this medication may cause some side effects, start at a reduced dose, or this medication is the right one. 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, move that direction. But again, the hope is that the time will come where we'll have more of the preemptive pharmacogenomic testing. There's a lot of information that again, Mayo Clinic can share with you all. You know the Clinical Pharmacogenomic Implementation Consortium, cpic, to be short on their website, provide a lot of great resource about drug gene guidelines. That is another great resource that provide great guidelines for both patients and I think practitioners.

[Narrator]

What do you hope people take away from Kelly's story?

[Chuck Dubois]

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 symptom, 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.

[Kelly Dubois]

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 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 saved my own life, kind of. My name is Kelly and for over 12 years I struggled with misdiagnoses and medical conditions before being diagnosed with drug metabolism polymorphisms.

[Narrator]

Next week on Symptomatic, we're excited to introduce a special bonus series you will 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, Athena from Season one. Spoiler alert for those who haven't heard this episode. Athena Athena was diagnosed with Hydradonitis 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. 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. Don't miss this heartfelt update with Athena.

[Lauren Bright Pacheco]

And look out for more House calls later this season.

[Narrator]

As always, we would love to hear from you. Send us your thoughts on this episode.

[Lauren Bright Pacheco]

Or share a medical mystery of your.

[Narrator]

Own@ symptomaticheartmedia.com and please rate and review Symptomatic wherever you get your podcasts. We'll see you next time. Until then, be well. Symptomatic is a production of Ruby Studio from iHeartMedia.

[Lauren Bright Pacheco]

Our show is hosted by me, Lauren Bright Pacheco.

[Narrator]

Executive producers are Matt Romano and myself. Our EP of post production is James Foster, our supervising producer is Ciara Kaiser.

[Lauren Bright Pacheco]

Our writers are John Irwin and Diana.

[Narrator]

Davis and our editor is Ciara sp. I'm Cyndi Lauper with fellow Cosentyx advocate Chef Michelle Bernstein. We'll share our experiences with plaque psoriasis with psoriatic arthritis and Dr. Panico will talk about the possible connection.

[Cyndi Lauper]

Cosentyx Secukinumab is prescribed for adults with moderate to severe plaque psoriasis 300mg dose and adults with active psoriatic arthritis 150mg dose. Don't use if you're allergic to Cosentyx. Before starting, get checked for TB serious allergic reactions, severe skin reactions that look like eczema and an increased risk of infections, some fatal, have occurred. It may lower your ability to fight infections, so tell your doctor if you have an infection or symptoms like fevers, sweats, chills, muscle aches or cough, had a vaccine or plan to or if IBD symptoms develop or worsen. Learn more at 1844cosentyx or cosentyx.com chefmichelle.