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.

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.

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

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

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.

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.

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.

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?

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

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. And Lauren Bribe Pacheco and this is symptomatic. You immediately notice Kelly Dubois intelligence, strive, and 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?

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. And Lauren Bribe Pacheco and this is symptomatic. You immediately notice Kelly Dubois intelligence, strive, and 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?

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.

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.

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

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

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.

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.

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, is there a time where you specifically remember a symptom manifesting itself that seemed unusual.

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, is there a time where you specifically remember a symptom manifesting itself that seemed unusual.

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. 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.

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. 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.

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 sleep being constantly. So I contacted my doctor. I'm like, this is not working. I can't live like this.

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.

That's fascinating. So their clues as early as sixteen and nineteen as to what would await you in your adult health challenges.

That's fascinating. So their clues as early as sixteen and nineteen as to what would await you in your adult health challenges.

Yeah, it's very interesting hindsight, you know, twenty twenty.

Yeah, it's very interesting hindsight, you know, twenty twenty.

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 that you realize something is really a mess.

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 that you realize something is really a mess.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

It just happens women gain weight.

It just happens women gain weight.

They're like, your metabolism slows down, and I'm like, well it shouldn't come too a screeching hull.

They're like, your metabolism slows down, and I'm like, well it shouldn't come too a screeching hull.

I was buying new pants every month.

I was buying new pants every month.

How did it impact her mindset and her self esteem?

How did it impact her mindset and her self esteem?

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.

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.

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.

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.

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

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

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

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

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.

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.

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, 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.

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, 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.

What did you think? It was initially early onset of menopause.

What did you think? It was initially early onset of menopause.

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.

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.

And so they decide to test for pituitary issue yep, and what do they uncover.

And so they decide to test for pituitary issue yep, and what do they uncover.

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.

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.

They recommended removal of that, and I mean we had quite a bit of hope that that might be the right path.

They recommended removal of that, and I mean we had quite a bit of hope that that might be the right path.

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.

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.

And will you, just, in Layman's term, explain to me what that is.

And will you, just, in Layman's term, explain to me what that is.

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 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.

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 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.

Did you get any solace initially from that diagnosis?

Did you get any solace initially from that diagnosis?

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.

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.

What was the treatment and how did you respond?

What was the treatment and how did you respond?

The first response is actually brain surgery.

The first response is actually brain surgery.

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 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. Yea, how difficult was that for you to navigate on a daily basis?

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 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. Yea, how difficult was that for you to navigate on a daily basis?

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 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.

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 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.

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

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

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

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

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.

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.

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 organ failure. And what did the surgery entail? How invasive was it?

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 organ failure. And what did the surgery entail? How invasive was it?

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 of like vacuum out what they believe is tumor material and.

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 of like vacuum out what they believe is tumor material and.

Then they they back out and the goal is to go home. The next day.

Then they 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 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 you know what year it is? And do you know who's the president? I remember thinking something bad happened.

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 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 you know what year it is? And do you know who's the president? I remember thinking something bad happened.

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

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

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 alone in there, and I just I didn't want to lose her.

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 alone in there, and I just I didn't want to lose her.

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.

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.

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 time.

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 time.

And went on though.

And went on though.

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, 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.

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, 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.

And I was just.

And I was just.

Getting bigger and bigger. I was almost two hundred pounds.

Getting bigger and bigger. I was almost two hundred pounds.

What kept you going?

What kept you going?

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 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.

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 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.

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?

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.

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.

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.

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.

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

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

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 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 we don't easily figure out what's wrong with people, and I don't know.

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 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 we don't easily figure out what's wrong with people, and I don't know.

I felt angry. I got really, really mad.

I felt angry. I got really, really mad.

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.

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.

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

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

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 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 healthcare, education and research, to take on her case.

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 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 healthcare, education and research, to take on her case.

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.

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.

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.

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.

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

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

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. 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.

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. 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.

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 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 go back and live a good quality life.

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 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 go back and live a good quality life.

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?

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?

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 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 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.

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 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 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.

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.

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.

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.

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.

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.

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.

So the new frontier, the new frontier of.

So the new frontier, the new frontier of.

Testing is they have a patient portal, just like every major hospital system does.

Testing is they have a patient portal, just like every major hospital system does.

Is this how you got your diagnosis?

Is this how you got your diagnosis?

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, we finally figured out what's wrong with me, Oh, twelve years later.

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, we finally figured out what's wrong with me, Oh, twelve years later.

If you had to, in the simplest possible way, define polymorphism, how would you do that?

If you had to, in the simplest possible way, define polymorphism, how would you do that?

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.

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.

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.

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.

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.

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.

Be taking, and she'd been on them for a decade at that point, over a decade.

Be taking, and she'd been on them for a decade at that point, over a decade.

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.

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.

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, 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.

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, 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.

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 you think the issue is?

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 you think the issue is?

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.

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.

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.

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.

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 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 it didn't occur to him.

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 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 it didn't occur to him.

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

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

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 all clinicians, include myself hopeful for our patients when we're able to achieve that.

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 all clinicians, include myself hopeful for our patients when we're able to achieve that.

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.

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.

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.

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.

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.

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.

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.

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.

More about them.

More about them.

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

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

They definitely demand doctors that they like who will listen to them, and I love it.

They definitely demand doctors that they like who will listen to them, and I love it.

They have a wonderful piece.

They have a wonderful piece.

But what I appreciate about this lady is that she took my daughters as patients now knowing what's.

But what I appreciate about this lady is that she took my daughters as patients now knowing what's.

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

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

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.

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.

But they both told me, we know what it means.

But they both told me, we know what it means.

Now when a patient advocates for themselves as much as you did, and we're better doctors.

Now when a patient advocates for themselves as much as you did, and we're better doctors.

Because of you, that's beautiful.

Because of you, that's beautiful.

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.

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.

It was horrible.

It was horrible.

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

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

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, 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, 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 provide great guidelines for both patients and I think practitioners.

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, 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, 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 provide great guidelines for both patients and I think practitioners.

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

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

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.

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.

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

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

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 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.

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 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.

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.

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 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 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 Irwin and Diana Davis, and Our editor is Cierra Spreen.

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 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 Irwin and Diana Davis, and Our editor is Cierra Spreen.