1 00:00:09,640 --> 00:00:13,039 Speaker 1: It took a couple of years until more symptoms started. 2 00:00:13,480 --> 00:00:16,040 Speaker 1: I looked back at pictures of me now, and it's 3 00:00:16,040 --> 00:00:18,120 Speaker 1: hard to even recognize myself. 4 00:00:18,600 --> 00:00:21,560 Speaker 2: She was ready to get the answers to continue to 5 00:00:21,640 --> 00:00:23,880 Speaker 2: go back and live a good quality life. 6 00:00:24,680 --> 00:00:27,240 Speaker 3: She had that surgery, and I was terrified of leaving 7 00:00:27,240 --> 00:00:30,319 Speaker 3: her alone in there. I've never seen her in such 8 00:00:30,440 --> 00:00:33,960 Speaker 3: debilitating pain. I just I didn't want to lose her. 9 00:00:34,120 --> 00:00:37,320 Speaker 1: And I looked up and I saw my neurosurgeon, and 10 00:00:37,360 --> 00:00:39,720 Speaker 1: he's asking me the questions like you see on TV 11 00:00:39,840 --> 00:00:41,760 Speaker 1: when you know something really bad happen. 12 00:00:42,240 --> 00:00:45,080 Speaker 4: Do you know your name? Do you know what year 13 00:00:45,159 --> 00:00:47,599 Speaker 4: it is? And do you know who's the president? 14 00:00:53,920 --> 00:00:57,560 Speaker 5: How terrifying would it be to fight an unknown enemy, 15 00:00:58,080 --> 00:01:01,880 Speaker 5: one you didn't recognize and didn't see coming. What if 16 00:01:01,920 --> 00:01:06,000 Speaker 5: that enemy was coming from within a disease that even 17 00:01:06,120 --> 00:01:11,800 Speaker 5: doctors couldn't identify. Nearly half of all Americans suffer from 18 00:01:11,880 --> 00:01:16,560 Speaker 5: some chronic illness, and many struggle for an accurate diagnosis. 19 00:01:17,600 --> 00:01:24,240 Speaker 5: These are their stories. And Lauren Brave Pacheco and this 20 00:01:24,680 --> 00:01:42,560 Speaker 5: is symptomatic. You immediately notice Kelly Dubois intelligence, strive, and 21 00:01:42,800 --> 00:01:46,600 Speaker 5: analytical nature. It's clear she is not one to give 22 00:01:46,680 --> 00:01:49,920 Speaker 5: up easily. These very traits have helped your navigate some 23 00:01:50,080 --> 00:01:54,000 Speaker 5: of the most challenging moments in her life. Tell me 24 00:01:54,040 --> 00:01:57,720 Speaker 5: a little bit about you. What are your passions? Anybody 25 00:01:57,760 --> 00:01:59,920 Speaker 5: who knows you, what would they say you love? 26 00:02:00,800 --> 00:02:03,120 Speaker 1: I often think about the question of what did you 27 00:02:03,160 --> 00:02:05,200 Speaker 1: want to be when you grow up? And I don't 28 00:02:05,240 --> 00:02:07,360 Speaker 1: know what I wanted to be, other than I know 29 00:02:07,480 --> 00:02:09,680 Speaker 1: I wanted to be a mom. I wanted a career, 30 00:02:09,680 --> 00:02:13,120 Speaker 1: and I wanted to be intrigued with a career and 31 00:02:13,320 --> 00:02:16,600 Speaker 1: use my brain a ton because I appreciate and enjoying that. 32 00:02:16,639 --> 00:02:18,840 Speaker 1: But the one thing I wanted to be was a mom. 33 00:02:19,440 --> 00:02:23,480 Speaker 5: Kelly has achieved that goal alongside her husband Chuck, in 34 00:02:23,520 --> 00:02:26,519 Speaker 5: a relationship founded on countless shared connections. 35 00:02:27,160 --> 00:02:31,360 Speaker 3: We're both techies, lots of gardening in our yard and 36 00:02:31,560 --> 00:02:35,560 Speaker 3: lots of picture taking things like that. She's very smart, 37 00:02:36,000 --> 00:02:40,120 Speaker 3: pretty driven. She likes things to be solved, she likes 38 00:02:40,400 --> 00:02:44,160 Speaker 3: definitive answers, and she's probably one of the most caring 39 00:02:44,160 --> 00:02:45,160 Speaker 3: people I know as well. 40 00:02:46,320 --> 00:02:48,799 Speaker 5: Kelly and Chuck share a blended family and have been 41 00:02:48,800 --> 00:02:51,720 Speaker 5: married for over a decade, cultivating a life rich in 42 00:02:51,800 --> 00:02:56,120 Speaker 5: love and mutual support. However, their lives soon took an 43 00:02:56,200 --> 00:03:02,400 Speaker 5: unexpected turn, testing their young family in ways they never imagined. So, 44 00:03:02,720 --> 00:03:09,720 Speaker 5: just in terms of your health challenges looking back now, 45 00:03:10,240 --> 00:03:13,919 Speaker 5: is there a time where you specifically remember a symptom 46 00:03:14,040 --> 00:03:16,600 Speaker 5: manifesting itself that seemed unusual. 47 00:03:17,240 --> 00:03:20,000 Speaker 1: I was actually thinking you would ask me this, because 48 00:03:20,000 --> 00:03:23,840 Speaker 1: that was very healthy my entire life up until this happened. 49 00:03:24,200 --> 00:03:27,040 Speaker 1: But when I look back, when I was sixteen, I 50 00:03:27,080 --> 00:03:30,760 Speaker 1: started getting migraine headaches, and they're a thing in our family. 51 00:03:30,919 --> 00:03:34,000 Speaker 1: My brother has them, my mother has them. And I 52 00:03:34,000 --> 00:03:37,960 Speaker 1: would be taking different medications and none of them really worked. 53 00:03:38,480 --> 00:03:40,800 Speaker 1: And I was told, take one pill. If you still 54 00:03:40,800 --> 00:03:42,640 Speaker 1: have the headache coming on half. 55 00:03:42,480 --> 00:03:44,840 Speaker 4: Hour later, take the other one. 56 00:03:45,080 --> 00:03:48,760 Speaker 1: And I was awake for two days with a headache 57 00:03:49,280 --> 00:03:50,160 Speaker 1: or they would. 58 00:03:50,080 --> 00:03:52,360 Speaker 4: Knock me out and I would sleep. 59 00:03:52,560 --> 00:03:55,680 Speaker 1: I remember one year, freshman year in college, I was 60 00:03:55,680 --> 00:03:58,360 Speaker 1: put on a new med to help try to battle 61 00:03:58,400 --> 00:04:00,960 Speaker 1: my migraines and I was just sleep being constantly. So 62 00:04:01,000 --> 00:04:03,360 Speaker 1: I contacted my doctor. I'm like, this is not working. 63 00:04:04,720 --> 00:04:05,800 Speaker 1: I can't live like this. 64 00:04:06,640 --> 00:04:10,080 Speaker 5: That's fascinating. So their clues as early as sixteen and 65 00:04:10,240 --> 00:04:14,680 Speaker 5: nineteen as to what would await you in your adult 66 00:04:14,720 --> 00:04:15,880 Speaker 5: health challenges. 67 00:04:16,600 --> 00:04:20,520 Speaker 1: Yeah, it's very interesting hindsight, you know, twenty twenty. 68 00:04:20,839 --> 00:04:26,600 Speaker 5: Always what Kelly didn't realize her reaction to come in 69 00:04:26,720 --> 00:04:31,120 Speaker 5: migraine medication was an early warning sign of the challenges ahead. 70 00:04:31,720 --> 00:04:35,320 Speaker 5: At the time, she brushed it off, But several years later, 71 00:04:35,480 --> 00:04:40,480 Speaker 5: during her first pregnancy, new symptoms began to surface. When 72 00:04:40,560 --> 00:04:44,400 Speaker 5: is the next time that something happens to you physically 73 00:04:44,839 --> 00:04:48,440 Speaker 5: that you realize something is really a mess. 74 00:04:48,960 --> 00:04:51,800 Speaker 1: So I'm about thirty two. I'd had Johna and Rachel, 75 00:04:52,880 --> 00:04:55,760 Speaker 1: and I started having heartburn. And I actually never had 76 00:04:55,760 --> 00:04:58,440 Speaker 1: heartburn until I was pregnant. I didn't even know what 77 00:04:58,480 --> 00:05:02,560 Speaker 1: it was. Andna ends up had a heidelhernia. So the 78 00:05:02,600 --> 00:05:04,960 Speaker 1: sphincter ends up failing at the base of I think 79 00:05:05,000 --> 00:05:07,720 Speaker 1: the esophagus, and part of the stomach comes up. Then 80 00:05:07,720 --> 00:05:11,159 Speaker 1: you have stomach acid coming up into your esophagus. 81 00:05:11,520 --> 00:05:14,680 Speaker 3: She had a lot of morning sickness, so throwing up, 82 00:05:14,800 --> 00:05:17,000 Speaker 3: I had to hold her hair out of the toilet 83 00:05:17,080 --> 00:05:21,240 Speaker 3: and the usual uh husbandly things. And I mean I 84 00:05:21,240 --> 00:05:23,240 Speaker 3: think she got put on bed rest for a little 85 00:05:23,240 --> 00:05:25,920 Speaker 3: while as well, all things considered. She's a trooper. 86 00:05:26,480 --> 00:05:30,039 Speaker 1: So I talked to my PCP and he prescribed a 87 00:05:30,040 --> 00:05:32,920 Speaker 1: proton pump inhibitor because at that time you couldn't get 88 00:05:32,920 --> 00:05:33,719 Speaker 1: them over the counter. 89 00:05:34,360 --> 00:05:39,000 Speaker 5: A proton pump inhibitor reduces stomach acid production by blocking 90 00:05:39,040 --> 00:05:43,360 Speaker 5: the enzyme responsible for acid release, helping to relieve conditions 91 00:05:43,440 --> 00:05:45,440 Speaker 5: like heartburn and acid reflux. 92 00:05:45,960 --> 00:05:49,599 Speaker 1: I almost immediately start gaining weight, like ten pounds a 93 00:05:49,600 --> 00:05:52,600 Speaker 1: month weight, and I go to talk to my doctors. 94 00:05:52,680 --> 00:05:56,119 Speaker 1: I'm like, there's something wrong, like I shouldn't be gaining 95 00:05:56,120 --> 00:05:57,880 Speaker 1: weight this quickly, and they're like, well, we'll test your 96 00:05:57,880 --> 00:06:00,280 Speaker 1: thyroid and stuff like that. They tested other hormone and 97 00:06:00,320 --> 00:06:02,680 Speaker 1: they were like, well, you're about thirty two thirty three 98 00:06:02,720 --> 00:06:03,760 Speaker 1: now you just had kids. 99 00:06:04,279 --> 00:06:05,960 Speaker 4: It just happens women gain weight. 100 00:06:06,720 --> 00:06:10,080 Speaker 1: They're like, your metabolism slows down, and I'm like, well 101 00:06:10,320 --> 00:06:12,000 Speaker 1: it shouldn't come too a screeching hull. 102 00:06:12,560 --> 00:06:14,880 Speaker 4: I was buying new pants every month. 103 00:06:15,880 --> 00:06:19,680 Speaker 5: How did it impact her mindset and her self esteem? 104 00:06:19,960 --> 00:06:24,200 Speaker 3: She started not wanting to have her pictures taken. Even 105 00:06:24,240 --> 00:06:27,039 Speaker 3: me just taking a quick snap of her, She's like, 106 00:06:27,040 --> 00:06:28,920 Speaker 3: you got to delete that, and she just didn't want 107 00:06:28,960 --> 00:06:31,680 Speaker 3: to remember those moments. 108 00:06:32,279 --> 00:06:34,039 Speaker 1: I look back at pictures of me now and I 109 00:06:34,080 --> 00:06:38,680 Speaker 1: don't it's hard to like even recognize myself. And I 110 00:06:38,760 --> 00:06:41,080 Speaker 1: look at pictures of my fortieth birthday because I don't 111 00:06:41,120 --> 00:06:44,760 Speaker 1: remember it, and I just look miserable. I could tell 112 00:06:44,800 --> 00:06:47,800 Speaker 1: I was just I was in so much pain, and 113 00:06:47,839 --> 00:06:50,039 Speaker 1: then all these symptoms built up, and it's just so 114 00:06:50,880 --> 00:06:54,400 Speaker 1: unwell feeling. It's almost like I was a different person. 115 00:06:55,240 --> 00:06:59,560 Speaker 5: So you're trapped within your own body basically. 116 00:06:59,600 --> 00:07:02,919 Speaker 1: That's a perfect way to explain it. I was like 117 00:07:02,960 --> 00:07:03,480 Speaker 1: in prison. 118 00:07:07,000 --> 00:07:10,440 Speaker 5: Kelly's rapid weight gain began in her early thirties and 119 00:07:10,520 --> 00:07:15,200 Speaker 5: continued into her forties. Understandably, it didn't take long for 120 00:07:15,280 --> 00:07:18,640 Speaker 5: it to affect her mental well being, leaving her confused 121 00:07:18,880 --> 00:07:24,040 Speaker 5: and frustrated. And just when you thought that things couldn't 122 00:07:24,360 --> 00:07:28,400 Speaker 5: get any worse, you start manifesting another physical symptom. 123 00:07:29,120 --> 00:07:32,320 Speaker 1: Yeah, I remember. It was February two thousand and seven. 124 00:07:32,360 --> 00:07:34,240 Speaker 1: I was sitting in my office at work, and I 125 00:07:34,360 --> 00:07:38,000 Speaker 1: live in upstate New York. It's cold and snowy here. 126 00:07:38,480 --> 00:07:41,640 Speaker 1: It's really bad in January and February, and I'm sitting 127 00:07:41,640 --> 00:07:45,320 Speaker 1: in my office and I have sweat pouring down from 128 00:07:45,360 --> 00:07:48,240 Speaker 1: the top of my head, like I am so hot, 129 00:07:48,920 --> 00:07:52,560 Speaker 1: and I am just profusely sweating for no reason. Now 130 00:07:52,560 --> 00:07:56,840 Speaker 1: I'm talking like running down my face, running down through 131 00:07:56,880 --> 00:08:00,120 Speaker 1: my hair. I'd have to wear extra clothes underneath my 132 00:08:00,160 --> 00:08:04,600 Speaker 1: work clothes to absorb the sweat. It was bizarre, and 133 00:08:05,320 --> 00:08:08,080 Speaker 1: I put up with it until like June, and then 134 00:08:08,120 --> 00:08:10,679 Speaker 1: I contacted my PCP and said, this is a normal. 135 00:08:13,360 --> 00:08:16,520 Speaker 5: What did you think? It was initially early onset of menopause. 136 00:08:17,400 --> 00:08:20,880 Speaker 1: So he's like, let's see if you have a pituitary tumor, 137 00:08:21,240 --> 00:08:24,120 Speaker 1: we'll give you an MRI because they was thinking maybe 138 00:08:24,120 --> 00:08:27,880 Speaker 1: it was an endocrine thing with the weight increase and 139 00:08:28,080 --> 00:08:30,560 Speaker 1: the sweating and stuff like that. So I'm like, okay, 140 00:08:30,720 --> 00:08:32,360 Speaker 1: we'll go for it. I'm the type of person I 141 00:08:32,440 --> 00:08:34,680 Speaker 1: always want to figure out what's wrong with me because 142 00:08:34,679 --> 00:08:35,920 Speaker 1: I want to fix it because I don't want to 143 00:08:35,960 --> 00:08:36,920 Speaker 1: feel that way anymore. 144 00:08:37,640 --> 00:08:42,840 Speaker 5: And so they decided to test for pituitary issue YEP, 145 00:08:43,080 --> 00:08:44,520 Speaker 5: and what do they uncover? 146 00:08:45,600 --> 00:08:48,360 Speaker 1: What they found in the radiology report was a very 147 00:08:48,400 --> 00:08:52,719 Speaker 1: small three to four millimeter tumor. They thought, so, your 148 00:08:52,720 --> 00:08:55,440 Speaker 1: peituitary glands about the size of a pee. And they 149 00:08:55,480 --> 00:08:58,680 Speaker 1: were thinking that they found a tumor on the anterior 150 00:08:58,720 --> 00:09:01,160 Speaker 1: on the front of my pituitary gland, so. 151 00:09:01,160 --> 00:09:04,760 Speaker 3: They recommended removal of that, and I mean we had 152 00:09:04,960 --> 00:09:06,520 Speaker 3: quite a bit of hope that that might be the 153 00:09:06,600 --> 00:09:07,120 Speaker 3: right path. 154 00:09:07,880 --> 00:09:12,840 Speaker 1: I am visited with another endochronologist who was a partner 155 00:09:13,080 --> 00:09:17,200 Speaker 1: at a pituitary tumor clinic where I live, and met 156 00:09:17,240 --> 00:09:19,920 Speaker 1: with a neurosurgeon as well, and I did have higher 157 00:09:20,080 --> 00:09:23,560 Speaker 1: growth hormone levels. And I'm getting sicker and sicker over this. 158 00:09:23,640 --> 00:09:27,200 Speaker 1: Another two year span, I was finally diagnosed with a 159 00:09:27,280 --> 00:09:29,280 Speaker 1: rare endocrine condition called acromegaly. 160 00:09:30,000 --> 00:09:33,160 Speaker 5: And will you, just, in Layman's term, explain to me 161 00:09:33,240 --> 00:09:33,760 Speaker 5: what that is. 162 00:09:34,360 --> 00:09:37,920 Speaker 1: It's called gigantism in the Princess Bride, the kind giant 163 00:09:38,160 --> 00:09:42,120 Speaker 1: he had in real life, gigantism. And it's a condition where, 164 00:09:42,720 --> 00:09:44,880 Speaker 1: depending on when it happens in your life, you can 165 00:09:44,920 --> 00:09:49,679 Speaker 1: get extraordinarily tall. When it happens and you're older, it 166 00:09:49,760 --> 00:09:53,760 Speaker 1: produces enough hormones where you do have hyperhydrosis, You do 167 00:09:53,840 --> 00:09:56,760 Speaker 1: gain weight, your hands, your feet, and your head can 168 00:09:56,800 --> 00:09:58,560 Speaker 1: grow a little bigger, but your rest of your body 169 00:09:58,559 --> 00:10:01,440 Speaker 1: won't get super tall if you're older. What it happens 170 00:10:02,200 --> 00:10:04,640 Speaker 1: body wide pain, migraine, stuff like that. 171 00:10:05,120 --> 00:10:08,160 Speaker 5: Did you get any solace initially from that. 172 00:10:08,080 --> 00:10:13,520 Speaker 6: Diagnosis, Yeah, It's finally like the enemy had a name, yeah, 173 00:10:13,559 --> 00:10:17,199 Speaker 6: and we know what's wrong with me, and finally I 174 00:10:17,240 --> 00:10:18,160 Speaker 6: can get some treatment. 175 00:10:18,679 --> 00:10:22,240 Speaker 4: Acromaglia, I believe is a one in one million diagnosis. 176 00:10:22,720 --> 00:10:24,720 Speaker 5: What was the treatment and how did you respond? 177 00:10:25,720 --> 00:10:30,079 Speaker 1: The first response is actually brain surgery. 178 00:10:31,080 --> 00:10:35,920 Speaker 5: After about a decade of unexplained symptoms, Kelly finally felt 179 00:10:35,960 --> 00:10:39,160 Speaker 5: like she had some answers, but the solution would pose 180 00:10:39,320 --> 00:10:43,760 Speaker 5: new questions. The doctors plan to remove her pituitary gland, 181 00:10:44,160 --> 00:10:47,320 Speaker 5: a small piece sized gland located at the base of 182 00:10:47,360 --> 00:10:51,560 Speaker 5: the brain that produces several important hormones. This would reduce 183 00:10:51,600 --> 00:10:54,800 Speaker 5: the amount of growth hormone in her body, hopefully bringing 184 00:10:54,800 --> 00:10:59,640 Speaker 5: her some relief. Kelly, I'm already just thinking of you 185 00:11:00,120 --> 00:11:04,800 Speaker 5: as a young mother with a career, basically bursting out 186 00:11:04,840 --> 00:11:08,200 Speaker 5: of your clothing and then feeling like you can be 187 00:11:08,320 --> 00:11:11,839 Speaker 5: drenched in your own sweat at any given point and 188 00:11:11,920 --> 00:11:15,480 Speaker 5: not knowing what's happening. How difficult was that for you 189 00:11:15,559 --> 00:11:17,520 Speaker 5: to navigate on a daily basis? 190 00:11:18,320 --> 00:11:21,280 Speaker 1: Extraordinarily because one of the symptoms I was developing was 191 00:11:21,280 --> 00:11:25,200 Speaker 1: also brain fog and inability to think clearly. And I'm 192 00:11:25,240 --> 00:11:27,760 Speaker 1: just trying my best, and I have a wonderful husband 193 00:11:27,800 --> 00:11:32,320 Speaker 1: who helps with my kids. Very fortunate, thank God. But 194 00:11:32,840 --> 00:11:36,960 Speaker 1: I remember one morning when I wasn't feeling well and 195 00:11:37,720 --> 00:11:39,560 Speaker 1: I must have taken the day off because I was sick, 196 00:11:40,160 --> 00:11:43,280 Speaker 1: and Chuck brought the girls to see me, and they 197 00:11:43,360 --> 00:11:47,360 Speaker 1: were they were in preschool daycare type of age, and 198 00:11:47,400 --> 00:11:50,079 Speaker 1: they both ran up and gave me their stuffed animals 199 00:11:50,360 --> 00:11:52,040 Speaker 1: so that I had someone to stay with me while 200 00:11:52,040 --> 00:11:55,520 Speaker 1: they were gone at school all day. And I thought, 201 00:11:56,040 --> 00:11:58,199 Speaker 1: how wonderful it is that I have kids who are 202 00:11:58,200 --> 00:12:02,800 Speaker 1: so little yet so incredibly compassionate. But I'm so mad 203 00:12:02,880 --> 00:12:05,360 Speaker 1: that we're not figuring this out, because they shouldn't have 204 00:12:05,440 --> 00:12:08,880 Speaker 1: to be in that position at this age to worry 205 00:12:08,920 --> 00:12:10,840 Speaker 1: about mommy while they're at preschool. 206 00:12:11,559 --> 00:12:15,200 Speaker 5: Yeah, because you feel like you should be the caregiver. 207 00:12:15,760 --> 00:12:19,200 Speaker 1: Yeah, I should be taking care of them, and it's 208 00:12:19,240 --> 00:12:21,240 Speaker 1: the opposite. And they're not even five years old. 209 00:12:21,760 --> 00:12:23,640 Speaker 3: It's a little tough with the girls, not only because 210 00:12:23,679 --> 00:12:26,920 Speaker 3: I mean she just generally, whether she's in pain or 211 00:12:27,040 --> 00:12:30,480 Speaker 3: just always a little uncomfortable. I mean it made it 212 00:12:30,520 --> 00:12:33,240 Speaker 3: so she couldn't like play with them on the floor 213 00:12:33,320 --> 00:12:35,560 Speaker 3: or anything like that for an extended period of time. 214 00:12:36,600 --> 00:12:40,239 Speaker 3: She didn't toss them around or go for walks as 215 00:12:40,320 --> 00:12:41,440 Speaker 3: much as she really wanted. 216 00:12:44,679 --> 00:12:48,960 Speaker 5: Before the surgery, Kelly took a glucose tolerance test, which 217 00:12:49,000 --> 00:12:55,000 Speaker 5: revealed an unexpected twist she didn't actually have acromegalie, leaving 218 00:12:55,080 --> 00:13:00,000 Speaker 5: the mystery of her condition unsolved. Despite this, doctors decide 219 00:13:00,240 --> 00:13:03,720 Speaker 5: to move forward with the surgery to address the risks 220 00:13:03,760 --> 00:13:07,400 Speaker 5: of her growth hormone levels causing an enlarged heart or 221 00:13:07,520 --> 00:13:14,559 Speaker 5: organ failure. And what did the surgery entail? How invasive 222 00:13:14,720 --> 00:13:15,000 Speaker 5: was it? 223 00:13:15,720 --> 00:13:18,240 Speaker 1: So what they do is your pituitary gland is kind 224 00:13:18,240 --> 00:13:20,520 Speaker 1: of like in the middle of your brain, hanging down 225 00:13:20,679 --> 00:13:24,160 Speaker 1: from I'm going to call it a little dongle, and it's, 226 00:13:24,679 --> 00:13:26,480 Speaker 1: like I said, the size of a p So they 227 00:13:26,520 --> 00:13:30,920 Speaker 1: went in through my right nostril, removed some boning cartilage 228 00:13:30,920 --> 00:13:34,320 Speaker 1: from my skull, and they they cut to open like 229 00:13:34,400 --> 00:13:37,920 Speaker 1: there's a membrane around the pituitary gland, and they kind 230 00:13:37,920 --> 00:13:41,720 Speaker 1: of like vacuum out what they believe is tumor material 231 00:13:42,200 --> 00:13:45,440 Speaker 1: and then they they back out and the goal is 232 00:13:45,480 --> 00:13:45,839 Speaker 1: to go home. 233 00:13:45,880 --> 00:13:46,440 Speaker 4: The next day. 234 00:13:47,040 --> 00:13:52,480 Speaker 1: I had a five day long spinal fluid leak, and 235 00:13:52,720 --> 00:13:56,520 Speaker 1: after the surgery, I did not wake up in the 236 00:13:56,559 --> 00:14:01,240 Speaker 1: timeframe that they thought I would And I remember waking 237 00:14:01,360 --> 00:14:03,920 Speaker 1: up in my room and the person standing above me 238 00:14:04,040 --> 00:14:07,439 Speaker 1: was actually my neural surgeon, and I was in the 239 00:14:07,480 --> 00:14:10,760 Speaker 1: brain I see you. And I remember looking out the 240 00:14:10,760 --> 00:14:14,839 Speaker 1: window and thinking, why is it getting dark outside? Because 241 00:14:14,880 --> 00:14:17,400 Speaker 1: my surgery was again the first thing in the morning, 242 00:14:17,480 --> 00:14:19,120 Speaker 1: like six point thirty in the morning. And I looked 243 00:14:19,200 --> 00:14:22,600 Speaker 1: up and I saw my neural surgeon and he's asking 244 00:14:22,600 --> 00:14:24,760 Speaker 1: me the questions like you see on TV when you 245 00:14:24,800 --> 00:14:28,000 Speaker 1: know something really bad happened. Do you know your name? 246 00:14:28,720 --> 00:14:31,120 Speaker 1: Do you know what year it is? And do you 247 00:14:31,160 --> 00:14:35,800 Speaker 1: know who's the president? I remember thinking something bad happened. 248 00:14:39,480 --> 00:14:42,760 Speaker 5: May I ask you, as her husband, what that was 249 00:14:42,920 --> 00:14:47,240 Speaker 5: like for you being on the other side of that 250 00:14:47,760 --> 00:14:48,560 Speaker 5: hospital door. 251 00:14:49,360 --> 00:14:51,640 Speaker 3: Yeah, that was painful. I'd like to say that's where 252 00:14:51,640 --> 00:14:53,640 Speaker 3: all my gray hair came from, but that's probably not 253 00:14:53,640 --> 00:14:57,840 Speaker 3: true at all. She was in excruciating pain the whole 254 00:14:57,880 --> 00:15:01,240 Speaker 3: time she was there, because every time she moved around 255 00:15:01,320 --> 00:15:04,400 Speaker 3: her her head felt like it was gonna I don't 256 00:15:04,440 --> 00:15:06,560 Speaker 3: know if explode is the right word it Maybe imploded 257 00:15:06,640 --> 00:15:09,920 Speaker 3: is a better word. I was terrified of leaving her 258 00:15:10,080 --> 00:15:13,200 Speaker 3: alone in there, and I just I didn't want to 259 00:15:13,200 --> 00:15:13,640 Speaker 3: lose her. 260 00:15:14,080 --> 00:15:16,800 Speaker 4: I am so fortunate that someone you know, what are 261 00:15:16,800 --> 00:15:19,080 Speaker 4: the lines in your wedding? It's sickness and in health. 262 00:15:19,680 --> 00:15:22,680 Speaker 1: Let me tell you, I'm so lucky I had someone 263 00:15:22,680 --> 00:15:24,760 Speaker 1: who was so willing to adhere to the you know, 264 00:15:25,320 --> 00:15:28,240 Speaker 1: but not because he had to, but because he wants to. 265 00:15:29,200 --> 00:15:33,040 Speaker 5: After Kelly's recovery and discharge, she thought the worst was 266 00:15:33,080 --> 00:15:36,320 Speaker 5: behind her, but the very next day she was back 267 00:15:36,320 --> 00:15:40,120 Speaker 5: in the hospital, this time with kidney stones. To make 268 00:15:40,200 --> 00:15:44,680 Speaker 5: matters worse, cat scans from her surgery revealed a breast mass, 269 00:15:45,040 --> 00:15:48,960 Speaker 5: sending her into the operating room again a week later. Thankfully, 270 00:15:49,080 --> 00:15:52,680 Speaker 5: it was benign. As she recovered from these setbacks, she 271 00:15:52,720 --> 00:15:57,360 Speaker 5: began to feel a small sense of relief. Unfortunately, that 272 00:15:57,440 --> 00:16:00,240 Speaker 5: relief didn't last long time. 273 00:16:00,000 --> 00:16:00,640 Speaker 4: And went on though. 274 00:16:00,680 --> 00:16:04,640 Speaker 1: I started gating weight again and having the symptoms come back. 275 00:16:04,720 --> 00:16:08,280 Speaker 1: Hyperhydrosis got worse, the flushing got worse, the body wide pain. 276 00:16:08,360 --> 00:16:12,040 Speaker 1: At one point, I'd taken a shower and the top 277 00:16:12,120 --> 00:16:14,880 Speaker 1: layer of my scalp underneath my hair, the whole thing 278 00:16:15,000 --> 00:16:19,400 Speaker 1: peeled off, and I was having this odor come out 279 00:16:19,400 --> 00:16:22,760 Speaker 1: of my body. I'd smell like chemicals. It was bizarre, 280 00:16:22,800 --> 00:16:25,720 Speaker 1: and if I would drink a decaf coffee. I would 281 00:16:25,720 --> 00:16:28,880 Speaker 1: smell a campfire smoke, and I would finding my lymph 282 00:16:28,920 --> 00:16:31,720 Speaker 1: nodes in my armpits swelling up. And I was just 283 00:16:31,880 --> 00:16:34,680 Speaker 1: getting bigger and bigger. I was almost two hundred pounds. 284 00:16:35,440 --> 00:16:38,600 Speaker 1: What kept you going? My kids and my husband, and 285 00:16:38,640 --> 00:16:43,000 Speaker 1: like my family, I can't imagine not being here for them. 286 00:16:45,200 --> 00:16:48,560 Speaker 1: So I remember one time in February twenty fifteen, I'm 287 00:16:48,600 --> 00:16:51,080 Speaker 1: laying in bed, It's like seven o'clock at night, and 288 00:16:51,120 --> 00:16:53,040 Speaker 1: I hear my family in the living room watching TV. 289 00:16:53,120 --> 00:16:55,040 Speaker 1: I think they were watching, you know, the game shows 290 00:16:55,120 --> 00:16:57,600 Speaker 1: or whatever, and I'm like, I had this number running 291 00:16:57,600 --> 00:17:01,880 Speaker 1: through my head over and over again, digitous one, two three, 292 00:17:02,000 --> 00:17:04,439 Speaker 1: you know, four, five, six seventy nine, not that number, 293 00:17:04,480 --> 00:17:06,960 Speaker 1: but over and over and over. 294 00:17:06,920 --> 00:17:08,639 Speaker 4: Like five minutes, like what is that? What is that? 295 00:17:08,680 --> 00:17:10,240 Speaker 4: What is that? Why do I know that? I don't 296 00:17:10,240 --> 00:17:11,600 Speaker 4: know what that number is? What is it? 297 00:17:12,000 --> 00:17:13,840 Speaker 1: And then it occurred to me it was my own 298 00:17:13,880 --> 00:17:16,720 Speaker 1: social Security number that I've known since I was in 299 00:17:16,760 --> 00:17:19,879 Speaker 1: eighth grade. And I didn't know what it was. I 300 00:17:19,960 --> 00:17:24,359 Speaker 1: knew it, but I'm like, oh, something's really wrong with me. 301 00:17:26,440 --> 00:17:29,119 Speaker 3: She was always kind of inn a little bit of 302 00:17:29,480 --> 00:17:32,600 Speaker 3: a haze. She wasn't quite as chris and witty as 303 00:17:33,119 --> 00:17:36,040 Speaker 3: she used to be. Then it takes her a longer 304 00:17:36,119 --> 00:17:38,720 Speaker 3: road to get the answers for most things. 305 00:17:39,920 --> 00:17:45,440 Speaker 5: Post surgery, These cognitive issues piled onto years of physical symptoms. 306 00:17:45,880 --> 00:17:48,880 Speaker 5: Once again, Kelly turned to her doctors for help. 307 00:17:49,720 --> 00:17:53,120 Speaker 1: And that's the thing is when you are chronically ill 308 00:17:53,240 --> 00:17:55,840 Speaker 1: in trying to figure out what's wrong with you, the 309 00:17:55,920 --> 00:17:58,760 Speaker 1: stress of going to an appointment, the nervousness of meeting 310 00:17:58,760 --> 00:18:02,000 Speaker 1: a new doctor, and then finding out that that's not 311 00:18:02,080 --> 00:18:05,120 Speaker 1: what's wrong with you, over and over and over again. 312 00:18:05,200 --> 00:18:09,760 Speaker 1: It's like constantly getting bamboozled. After another doctor appointment, they 313 00:18:09,800 --> 00:18:11,320 Speaker 1: told me they didn't know what was wrong with me. 314 00:18:11,520 --> 00:18:14,440 Speaker 1: And I locked myself in my bedroom because it was 315 00:18:14,480 --> 00:18:17,680 Speaker 1: August and my kids were still home from school because 316 00:18:17,680 --> 00:18:20,160 Speaker 1: they've already worried enough about me. And I did one 317 00:18:20,160 --> 00:18:23,040 Speaker 1: thing I'd never done before, and I don't even know why. 318 00:18:23,760 --> 00:18:26,240 Speaker 1: I got really mad. And I wasn't mad at my doctor, 319 00:18:26,320 --> 00:18:30,000 Speaker 1: because she's wonderful. I was mad at the system where 320 00:18:30,000 --> 00:18:32,240 Speaker 1: we don't easily figure out what's wrong with people. 321 00:18:32,280 --> 00:18:33,720 Speaker 4: And I don't know. I felt angry. 322 00:18:33,920 --> 00:18:38,840 Speaker 5: I got really, really mad despite all she'd endured, Kelly 323 00:18:38,920 --> 00:18:43,280 Speaker 5: refused to let her struggles define her. After multiple surgeries 324 00:18:43,280 --> 00:18:46,160 Speaker 5: and relentless symptoms, she knew it was time to take 325 00:18:46,200 --> 00:18:49,680 Speaker 5: the next steps into her own hands. Determined to find 326 00:18:49,720 --> 00:18:53,080 Speaker 5: concrete answers, Kelly knew there was one place that could 327 00:18:53,160 --> 00:18:55,560 Speaker 5: offer her hope, the Mayo Clinic. 328 00:18:56,560 --> 00:18:58,840 Speaker 1: I was getting to the point where I'm like, there 329 00:18:58,920 --> 00:19:00,280 Speaker 1: is something else wrong with me. 330 00:19:02,560 --> 00:19:06,439 Speaker 5: We'll be right back with Symptomatic, a medical mystery podcast. 331 00:19:09,800 --> 00:19:18,080 Speaker 5: Now back to Symptomatic, a medical mystery podcast. For Kelly Dubois, 332 00:19:18,119 --> 00:19:20,960 Speaker 5: it all began with a diagnosis of a hiatal hernia 333 00:19:21,359 --> 00:19:25,400 Speaker 5: and sudden, unexplained weight gain. This was followed by two 334 00:19:25,520 --> 00:19:29,000 Speaker 5: decades of illness and brain surgery that left her with 335 00:19:29,200 --> 00:19:34,280 Speaker 5: irreparable damage. Throughout this time, Kelly fought a relentless battle 336 00:19:34,640 --> 00:19:39,200 Speaker 5: seeking a cause, educating herself and pushing her concerns aside, 337 00:19:39,720 --> 00:19:43,760 Speaker 5: only for her condition to persist. That's when she decided 338 00:19:43,880 --> 00:19:46,520 Speaker 5: the only thing left to do was to pursue the 339 00:19:46,640 --> 00:19:50,200 Speaker 5: top researchers and doctors at the Mayo Clinic, a renowned 340 00:19:50,240 --> 00:19:54,240 Speaker 5: medical center known for its integrated healthcare, education and research, 341 00:19:54,640 --> 00:19:55,800 Speaker 5: to take on her case. 342 00:20:04,119 --> 00:20:07,360 Speaker 1: And they said, well, let's talk about what you think 343 00:20:07,440 --> 00:20:12,119 Speaker 1: might be wrong with you. So, in a nutshell, I'm like, 344 00:20:12,600 --> 00:20:14,879 Speaker 1: I think I was misdiagnosed. I think I don't have 345 00:20:14,920 --> 00:20:17,600 Speaker 1: an endocrine condition. I think I might have brain damage 346 00:20:17,840 --> 00:20:20,359 Speaker 1: from the surgery. But I go I think that the 347 00:20:20,400 --> 00:20:22,240 Speaker 1: big thing that's really wrong with me has got something 348 00:20:22,240 --> 00:20:25,760 Speaker 1: to do with medications. And they're like, okay, And I 349 00:20:25,840 --> 00:20:26,840 Speaker 1: was there three weeks later. 350 00:20:27,520 --> 00:20:30,639 Speaker 5: Wow, I love this story, Kelly. I love that the 351 00:20:30,680 --> 00:20:37,000 Speaker 5: fact you empowered yourself out of just fear and helplessness. 352 00:20:37,040 --> 00:20:41,080 Speaker 5: You hit this rock bottom and you propelled yourself forward 353 00:20:41,160 --> 00:20:41,640 Speaker 5: from it. 354 00:20:42,280 --> 00:20:46,159 Speaker 1: Yeah, and like, I knew there was something wrong with 355 00:20:46,240 --> 00:20:47,840 Speaker 1: me that we haven't figured out. 356 00:20:48,760 --> 00:20:52,280 Speaker 5: The following months were a whirlwind of flights between Kelly's 357 00:20:52,320 --> 00:20:54,879 Speaker 5: home in New York and the Mayo Clinic in Minnesota. 358 00:20:55,359 --> 00:20:59,920 Speaker 5: Visit's filled with endless tests and consultations. The shuffle halted 359 00:21:00,359 --> 00:21:04,240 Speaker 5: when Kelly was connected with the Mayo Clinics doctor Eric Mattey, 360 00:21:04,840 --> 00:21:08,840 Speaker 5: marking a critical turning point in her search for answers. 361 00:21:09,680 --> 00:21:14,159 Speaker 5: At Mayo Clinic, people are often you know, they're desperate 362 00:21:14,280 --> 00:21:17,119 Speaker 5: for help by the time they get to you, guys, 363 00:21:17,160 --> 00:21:21,400 Speaker 5: because you are the gold standard for answers and solutions 364 00:21:21,400 --> 00:21:24,119 Speaker 5: for people who have been seeking them, sometimes like Kelly 365 00:21:24,160 --> 00:21:27,960 Speaker 5: for over a decade. Do you remember Kelly the first 366 00:21:28,040 --> 00:21:28,720 Speaker 5: time you met. 367 00:21:29,600 --> 00:21:33,840 Speaker 2: I do just like yesterday, And there are patients who 368 00:21:34,000 --> 00:21:37,399 Speaker 2: come in and you could tell that they other point 369 00:21:37,520 --> 00:21:42,280 Speaker 2: where they're really looking for answers. And you know, I 370 00:21:42,359 --> 00:21:45,440 Speaker 2: talk about the importance of really listening to our patients, 371 00:21:45,440 --> 00:21:48,439 Speaker 2: and I think one of the things that Mayo Clinic 372 00:21:48,560 --> 00:21:51,040 Speaker 2: does very well has to do with collaboration. And if 373 00:21:51,040 --> 00:21:54,280 Speaker 2: you go back to Kelly's story, it wasn't just seen 374 00:21:54,400 --> 00:21:58,040 Speaker 2: me by it or seeing multiple providers at Mayo Clinic 375 00:21:58,720 --> 00:22:03,119 Speaker 2: who took the time to really review her condition, her case. 376 00:22:03,760 --> 00:22:05,679 Speaker 2: And Kelly came in, you could tell that she had 377 00:22:05,720 --> 00:22:07,640 Speaker 2: done a lot of research, she had done a lot 378 00:22:07,640 --> 00:22:10,080 Speaker 2: of reading, She had a zale for life, and so 379 00:22:10,160 --> 00:22:13,119 Speaker 2: she was ready to get the answers to continue to 380 00:22:13,200 --> 00:22:15,720 Speaker 2: go back and live a good quality life. 381 00:22:16,280 --> 00:22:21,439 Speaker 5: Doctor Mattee specializes in pharmacogenomics, which focuses on understanding how 382 00:22:21,480 --> 00:22:26,160 Speaker 5: a person's genetics affect their response to medications. His work 383 00:22:26,200 --> 00:22:30,320 Speaker 5: is at the forefront of personalized medicine, using genetic insights 384 00:22:30,359 --> 00:22:35,160 Speaker 5: to create treatments tailored to each individual. What was it 385 00:22:35,600 --> 00:22:40,119 Speaker 5: that struck you in retrospect as so unique about her case? 386 00:22:41,080 --> 00:22:44,879 Speaker 2: When Kelly came in and talked about the medications that 387 00:22:44,960 --> 00:22:49,480 Speaker 2: she was on, and I review the medications again going 388 00:22:49,600 --> 00:22:53,679 Speaker 2: back to the basics of has this medication been effective? 389 00:22:53,760 --> 00:22:57,920 Speaker 2: Has this medication caused any side effect? There very few 390 00:22:58,400 --> 00:23:04,320 Speaker 2: that line up with what was expected for patients who 391 00:23:04,400 --> 00:23:10,040 Speaker 2: were not metabolizing specific medication. In the case of Kelly, 392 00:23:10,600 --> 00:23:14,080 Speaker 2: one of the genes, she was not a normal metabolizer 393 00:23:14,119 --> 00:23:17,840 Speaker 2: of that gene. And just for your listeners in general, 394 00:23:17,960 --> 00:23:20,800 Speaker 2: for some medications and not all medications that have a 395 00:23:20,880 --> 00:23:24,680 Speaker 2: dry gene interaction, if a patient does not metabolize the 396 00:23:24,760 --> 00:23:30,040 Speaker 2: medication as expected, some medication serum concentration can go up 397 00:23:30,119 --> 00:23:33,560 Speaker 2: and cause some side effects. And so in Kelly's case, 398 00:23:33,760 --> 00:23:37,080 Speaker 2: after understanding that there was a potential that if we 399 00:23:37,160 --> 00:23:41,240 Speaker 2: knew more about her genes, we could shere light on 400 00:23:41,400 --> 00:23:46,359 Speaker 2: why she was experiencing the side effects from this particular medication. 401 00:23:46,720 --> 00:23:49,200 Speaker 5: Kelly had a gut feeling for a while that her 402 00:23:49,240 --> 00:23:52,959 Speaker 5: medications might be the source of her issues, and doctor 403 00:23:53,040 --> 00:23:58,560 Speaker 5: Mattee agreed. He suggested pharmacogenomics testing to take a closer 404 00:23:58,600 --> 00:24:01,639 Speaker 5: look at her genes and how they were interacting with 405 00:24:01,680 --> 00:24:06,080 Speaker 5: the treatments. Finally, a comforting step forward. 406 00:24:06,359 --> 00:24:09,680 Speaker 1: It's genetic testing where they look at how your body 407 00:24:09,760 --> 00:24:13,560 Speaker 1: metabolizes medications and see if you have any genetic mutations 408 00:24:13,600 --> 00:24:17,040 Speaker 1: and some of the enzyme systems to see if your 409 00:24:17,040 --> 00:24:22,480 Speaker 1: body metabolizes medications as intended or if you have polymorphisms 410 00:24:22,520 --> 00:24:26,040 Speaker 1: that make you metabolize them slower or faster. 411 00:24:26,760 --> 00:24:30,040 Speaker 2: I think for Kelly's test, it was the second generation, 412 00:24:30,200 --> 00:24:32,119 Speaker 2: so I think it was a nineteen panel that was 413 00:24:32,200 --> 00:24:34,640 Speaker 2: off it for if I remember in that right, yes, 414 00:24:34,760 --> 00:24:37,000 Speaker 2: and so she was part of that second group of 415 00:24:37,680 --> 00:24:41,359 Speaker 2: i'll say patients who were experienced or had that testing 416 00:24:41,800 --> 00:24:42,720 Speaker 2: offered to them. 417 00:24:43,080 --> 00:24:45,720 Speaker 5: So the new frontier, the new frontier of. 418 00:24:45,760 --> 00:24:49,480 Speaker 1: Testing is they have a patient portal, just like every 419 00:24:49,640 --> 00:24:51,119 Speaker 1: major hospital system does. 420 00:24:51,600 --> 00:24:53,280 Speaker 5: Is this how you got your diagnosis? 421 00:24:53,480 --> 00:24:55,439 Speaker 1: This is how I found out because we had a 422 00:24:55,440 --> 00:24:58,960 Speaker 1: call scheduled for later, like after the results came in, 423 00:24:59,400 --> 00:25:01,479 Speaker 1: and I'm watching and then pop into the portal and 424 00:25:01,520 --> 00:25:05,680 Speaker 1: there I keep seeing the word polymorphism, polymorphism, polymorphism. There 425 00:25:05,680 --> 00:25:08,760 Speaker 1: are total of nine tests and I had like more 426 00:25:08,800 --> 00:25:15,159 Speaker 1: than seven, and I'm like it sounds horrible, but I'm like, yes, Like, 427 00:25:15,520 --> 00:25:19,480 Speaker 1: we finally figured out what's wrong with me, Oh, twelve 428 00:25:19,560 --> 00:25:20,159 Speaker 1: years later. 429 00:25:21,840 --> 00:25:27,560 Speaker 5: If you had to, in the simplest possible way, define polymorphism, 430 00:25:27,840 --> 00:25:28,800 Speaker 5: how would you do that? 431 00:25:29,560 --> 00:25:33,639 Speaker 2: Well, it has to do with the variabilities within a 432 00:25:33,720 --> 00:25:37,600 Speaker 2: genetic profile. It has to do with the variability within 433 00:25:37,680 --> 00:25:41,720 Speaker 2: our our genes that affects how we respond to medications 434 00:25:41,920 --> 00:25:43,720 Speaker 2: differently within each individual. 435 00:25:44,440 --> 00:25:46,679 Speaker 1: And I got on the phone with him and he's like, 436 00:25:47,200 --> 00:25:51,159 Speaker 1: you had more than seven, This would explain why you 437 00:25:51,240 --> 00:25:53,680 Speaker 1: feel so unwell with all these medications. 438 00:25:54,040 --> 00:25:56,280 Speaker 3: She started reading it and then she's looking at the 439 00:25:56,359 --> 00:25:59,719 Speaker 3: drug interactions and they have a list of red medications, 440 00:25:59,720 --> 00:26:03,240 Speaker 3: which stuff that you should just not be ever taking 441 00:26:03,600 --> 00:26:06,360 Speaker 3: and certainly not for years at a time. And the 442 00:26:06,800 --> 00:26:10,000 Speaker 3: ascid reducers for her stomach were in that group of 443 00:26:10,200 --> 00:26:13,000 Speaker 3: medications that she should just never be taking. 444 00:26:13,240 --> 00:26:15,480 Speaker 5: And she'd been on them for a decade at that point, 445 00:26:15,640 --> 00:26:16,400 Speaker 5: over a decade. 446 00:26:16,680 --> 00:26:21,600 Speaker 3: Yeah, and it's just all stemming from the heartburn. And 447 00:26:21,920 --> 00:26:25,840 Speaker 3: they basically say, yeah, you're not metabolizing this as fast 448 00:26:25,840 --> 00:26:28,680 Speaker 3: as a normal person. So it just basically sits there, 449 00:26:29,320 --> 00:26:30,520 Speaker 3: not doing anything. 450 00:26:31,720 --> 00:26:35,400 Speaker 2: And then when the result came back, it was like, Wow, 451 00:26:35,480 --> 00:26:38,439 Speaker 2: we could see into the future, right only if we 452 00:26:38,520 --> 00:26:42,439 Speaker 2: knew this information. But there again, this is the power 453 00:26:42,480 --> 00:26:46,480 Speaker 2: of science. Science continues to evolve, Science continues to enlighten 454 00:26:46,560 --> 00:26:48,399 Speaker 2: us as to how best we can help our patients, 455 00:26:48,400 --> 00:26:52,800 Speaker 2: and I think for most patients, even in particular with Kelly, 456 00:26:52,960 --> 00:26:56,320 Speaker 2: when she realized that it wasn't in her head, it 457 00:26:56,440 --> 00:26:59,960 Speaker 2: was her genes that by itself led to a really 458 00:27:00,720 --> 00:27:05,119 Speaker 2: and I could tell that there was resolution, there was comfort. 459 00:27:06,400 --> 00:27:09,560 Speaker 5: At last, Kelly had a clear picture of what had 460 00:27:09,560 --> 00:27:15,120 Speaker 5: been plaguing her polymorphisms. With all her determination and relentless searching, 461 00:27:15,440 --> 00:27:18,639 Speaker 5: she finally found a cutting edge team that didn't just 462 00:27:18,680 --> 00:27:22,560 Speaker 5: treat her symptoms, but uncovered the true cause. It was 463 00:27:22,720 --> 00:27:29,880 Speaker 5: the breakthrough she had sought for decades. How underdiagnosed do 464 00:27:29,920 --> 00:27:31,480 Speaker 5: you think the issue is? 465 00:27:32,280 --> 00:27:35,280 Speaker 2: About ninety nine percent of the population will have at 466 00:27:35,400 --> 00:27:41,960 Speaker 2: least one polymorphism within the farmacogenomic testing, at least one 467 00:27:42,840 --> 00:27:47,000 Speaker 2: gene that is not normal that may have a formacogenomic implication. 468 00:27:48,000 --> 00:27:51,800 Speaker 5: Under doctor Mattey's guidance, Kelly and her doctors began gradually 469 00:27:51,840 --> 00:27:55,240 Speaker 5: tapering her off of medications one at a time to 470 00:27:55,359 --> 00:27:59,160 Speaker 5: identify which ones were causing harm. Instead, of helping, some 471 00:27:59,240 --> 00:28:02,760 Speaker 5: medications were actually exacerbating her condition. 472 00:28:03,400 --> 00:28:08,159 Speaker 1: Between January twenty sixteen and July twenty sixteen, we adjusted 473 00:28:08,160 --> 00:28:10,840 Speaker 1: my meds based on the new genetic data we had, 474 00:28:11,400 --> 00:28:15,439 Speaker 1: and without exercising or changing my diet, I lost fifty 475 00:28:15,480 --> 00:28:19,440 Speaker 1: pounds wow. And in the following year I lost another 476 00:28:19,480 --> 00:28:22,960 Speaker 1: twenty pounds. I saw my PCP after I started going 477 00:28:22,960 --> 00:28:25,639 Speaker 1: to Mayo Clinic and he hadn't seen me for like 478 00:28:25,720 --> 00:28:28,840 Speaker 1: four or five months, and he walked into the room 479 00:28:28,920 --> 00:28:32,480 Speaker 1: and his jaw dropped because I lost so much weight. 480 00:28:33,480 --> 00:28:36,680 Speaker 1: He's like, well, your kids must love having their mom back. 481 00:28:36,720 --> 00:28:40,400 Speaker 1: And I said, they don't recognize me. They were so 482 00:28:40,600 --> 00:28:44,400 Speaker 1: little when I started getting sick, that actually don't recognize 483 00:28:44,440 --> 00:28:45,320 Speaker 1: what I look like now. 484 00:28:45,320 --> 00:28:47,680 Speaker 4: And he goes, oh, like it didn't occur to him. 485 00:28:48,880 --> 00:28:54,280 Speaker 5: What was that like? To help her uncover the woman 486 00:28:54,800 --> 00:28:57,600 Speaker 5: she was and felt she had lost. 487 00:28:58,280 --> 00:29:00,760 Speaker 2: I think the best as that I can give you 488 00:29:01,200 --> 00:29:04,080 Speaker 2: is what we do at Mayo Clinic, which is the 489 00:29:04,160 --> 00:29:08,000 Speaker 2: needs of the patient always comes first, and when we 490 00:29:08,040 --> 00:29:13,000 Speaker 2: are able to help our patients achieve their needs, which 491 00:29:13,120 --> 00:29:17,880 Speaker 2: is in Kelly's case, a zell to live life to 492 00:29:17,920 --> 00:29:21,360 Speaker 2: the fullest. I think that is the greatest joy that 493 00:29:21,720 --> 00:29:25,880 Speaker 2: all clinicians, include myself hopeful for our patients when we're 494 00:29:25,880 --> 00:29:26,800 Speaker 2: able to achieve that. 495 00:29:29,680 --> 00:29:34,040 Speaker 5: Almost immediately, Kelly began to look like and more importantly, 496 00:29:34,200 --> 00:29:37,320 Speaker 5: feel like herself again. She was diligent in preventing this 497 00:29:37,360 --> 00:29:41,440 Speaker 5: from happening again, becoming overly communicative with her doctors and 498 00:29:41,480 --> 00:29:45,880 Speaker 5: pharmacists to avoid any side effects caused by her medications. 499 00:29:46,640 --> 00:29:50,560 Speaker 1: These polymorphisms, they're not rare. There are people sick in 500 00:29:50,560 --> 00:29:53,720 Speaker 1: the hospital right now who The people do have a 501 00:29:53,720 --> 00:29:55,560 Speaker 1: medical condition, but on top of it, they probably have 502 00:29:55,640 --> 00:29:59,280 Speaker 1: polymorphisms that are affecting how their body metabolizes the medications 503 00:29:59,280 --> 00:30:02,640 Speaker 1: that being given, and no one knows about it. It's 504 00:30:02,800 --> 00:30:06,280 Speaker 1: mind boggling to me that so little of this is 505 00:30:06,320 --> 00:30:07,720 Speaker 1: known about now. 506 00:30:07,760 --> 00:30:10,280 Speaker 5: I should think, though, as a mother, since we've used 507 00:30:10,280 --> 00:30:14,120 Speaker 5: the word genetics a lot in this conversation, that you 508 00:30:14,240 --> 00:30:18,440 Speaker 5: must have had that initial relief as you began to heal, 509 00:30:19,200 --> 00:30:22,280 Speaker 5: But then did you start looking at your daughters with 510 00:30:22,440 --> 00:30:25,120 Speaker 5: fear that they could experience the same thing. 511 00:30:25,920 --> 00:30:30,320 Speaker 1: What happened to me will absolutely positively never happened to 512 00:30:30,360 --> 00:30:33,760 Speaker 1: my daughters. Everyone who's related to me has had pharmacogenom 513 00:30:33,800 --> 00:30:37,640 Speaker 1: accessing now. My husband has too, my daughters have pots 514 00:30:37,640 --> 00:30:40,880 Speaker 1: and eds. I'm hoping that these conditions won't be considered 515 00:30:41,000 --> 00:30:43,200 Speaker 1: as rare years from now when people know. 516 00:30:43,200 --> 00:30:43,800 Speaker 4: More about them. 517 00:30:44,240 --> 00:30:49,400 Speaker 5: So, how has watching you navigate your own health battles 518 00:30:50,280 --> 00:30:53,440 Speaker 5: altered the way your daughters approach theirs? 519 00:30:54,240 --> 00:30:56,960 Speaker 1: They definitely demand doctors that they like who will listen 520 00:30:57,000 --> 00:30:58,520 Speaker 1: to them, and I love it. 521 00:30:58,840 --> 00:30:59,880 Speaker 4: They have a wonderful piece. 522 00:31:01,040 --> 00:31:03,840 Speaker 1: But what I appreciate about this lady is that she 523 00:31:04,000 --> 00:31:06,520 Speaker 1: took my daughters as patients now knowing what's. 524 00:31:06,360 --> 00:31:12,440 Speaker 5: Wrong with me, because in an odd way, it's all related. Yeah, 525 00:31:12,880 --> 00:31:15,600 Speaker 5: Kelly was driven to a breaking point in her search 526 00:31:15,640 --> 00:31:19,880 Speaker 5: for medical explanation. Eventually she took matters into her own hands, 527 00:31:20,280 --> 00:31:24,080 Speaker 5: using her determination to find answers. In doing so, she 528 00:31:24,120 --> 00:31:28,440 Speaker 5: not only inspired others, but also continues to push forward 529 00:31:28,520 --> 00:31:33,280 Speaker 5: the conversation around genetic testing and its role in individualized care. 530 00:31:33,920 --> 00:31:36,760 Speaker 1: I have a new PCP, but he and my nephrologists 531 00:31:36,760 --> 00:31:39,840 Speaker 1: are friends in real life, and they both took me 532 00:31:39,880 --> 00:31:42,120 Speaker 1: aside after we figured out what's going on, and they 533 00:31:42,160 --> 00:31:47,920 Speaker 1: said thank you, and I'm like for what, and they're like, well, 534 00:31:47,920 --> 00:31:50,680 Speaker 1: not only do we know about pharmacogenomics testing, and if 535 00:31:50,680 --> 00:31:53,360 Speaker 1: we have a patient like say, well, maybe this medicine's 536 00:31:53,360 --> 00:31:55,160 Speaker 1: not right for me, and we can suggest it to them. 537 00:31:55,200 --> 00:31:58,160 Speaker 1: But they both told me, we know what it means. 538 00:31:58,200 --> 00:32:01,840 Speaker 1: Now when a patient advocates for themselves as much as 539 00:32:01,880 --> 00:32:04,360 Speaker 1: you did, and we're better doctors. 540 00:32:04,000 --> 00:32:06,040 Speaker 5: Because of you, that's beautiful. 541 00:32:06,480 --> 00:32:09,600 Speaker 1: That means a lot because doctors, you know how many 542 00:32:09,640 --> 00:32:11,240 Speaker 1: are going to say that they learned from a patient, 543 00:32:11,320 --> 00:32:14,280 Speaker 1: and I appreciate that. And if I can help them 544 00:32:14,600 --> 00:32:17,960 Speaker 1: help other people, that's wonderful because I don't want anyone 545 00:32:18,000 --> 00:32:19,480 Speaker 1: to go through what I went through. 546 00:32:20,120 --> 00:32:20,840 Speaker 4: It was horrible. 547 00:32:22,000 --> 00:32:26,680 Speaker 5: So, doctor, what gives you hope? What could the future 548 00:32:26,720 --> 00:32:29,560 Speaker 5: of medicine look like with more genetic testing. 549 00:32:30,000 --> 00:32:34,040 Speaker 2: In the space of formacogenomics in general, Our hope is 550 00:32:34,080 --> 00:32:37,560 Speaker 2: that we could have preemptive formacogenomic testing, whereby every patient 551 00:32:37,600 --> 00:32:41,880 Speaker 2: that walks into a clinic will have pharmacogenomic testing. Then thereby, 552 00:32:41,920 --> 00:32:44,640 Speaker 2: in the future, if there's a new medication that's going 553 00:32:44,680 --> 00:32:46,920 Speaker 2: to be prescribed as we are in the world of 554 00:32:47,000 --> 00:32:50,000 Speaker 2: artificient intelligence latificial intelligence, to be able to say, oh, 555 00:32:50,040 --> 00:32:53,920 Speaker 2: this patient has this test and then this medication may 556 00:32:53,960 --> 00:32:56,160 Speaker 2: not be the best. So this medication may cause some 557 00:32:56,200 --> 00:32:59,520 Speaker 2: side effects, started to reduce those. So this medication is 558 00:32:59,560 --> 00:33:02,400 Speaker 2: the right way continue. We are getting there, but we 559 00:33:02,400 --> 00:33:05,360 Speaker 2: are not there yet, and so I want your listeners 560 00:33:05,400 --> 00:33:08,920 Speaker 2: to understand that if they have questions, they should talk 561 00:33:08,960 --> 00:33:13,120 Speaker 2: to a pharmacist, get some answers, and if testing is appropriate, 562 00:33:13,400 --> 00:33:16,800 Speaker 2: moved that direction. But again the hope is that the 563 00:33:16,840 --> 00:33:19,040 Speaker 2: time will come we will have more of the preemptive 564 00:33:19,040 --> 00:33:22,280 Speaker 2: from oco genomic testing. There's a lot of information that 565 00:33:22,320 --> 00:33:25,239 Speaker 2: again Mayo Clinic can share with you all you know, 566 00:33:25,360 --> 00:33:29,520 Speaker 2: the clinical from ourco Genomic Implementation Consocium SEEPEG to be 567 00:33:29,560 --> 00:33:32,520 Speaker 2: shot on the air website provide a lot of great 568 00:33:32,640 --> 00:33:37,600 Speaker 2: resource about dry gene guidelines. That is another great resource 569 00:33:38,240 --> 00:33:43,600 Speaker 2: that provide great guidelines for both patients and I think practitioners. 570 00:33:44,440 --> 00:33:47,800 Speaker 5: What do you hope people take away from Kelly's story. 571 00:33:48,760 --> 00:33:52,600 Speaker 3: I hope they recognize from the point where they start 572 00:33:52,600 --> 00:33:56,560 Speaker 3: getting treated for something, if new things start to appear 573 00:33:56,720 --> 00:34:00,880 Speaker 3: and you're still being treated for that original sim maybe 574 00:34:00,880 --> 00:34:03,720 Speaker 3: they're not finding the problem that you need to solve, 575 00:34:03,920 --> 00:34:06,960 Speaker 3: or maybe there's another issue that also needs to be 576 00:34:07,000 --> 00:34:08,239 Speaker 3: solved in conjunction with that. 577 00:34:08,960 --> 00:34:12,759 Speaker 1: If I could figure this out, you could too. And 578 00:34:13,560 --> 00:34:16,160 Speaker 1: if you know you're sick, whether it's the issue I 579 00:34:16,200 --> 00:34:20,120 Speaker 1: have or some other issue, and you genuinely know there's 580 00:34:20,120 --> 00:34:23,120 Speaker 1: something wrong with you, work to figure it out. What's 581 00:34:23,120 --> 00:34:26,520 Speaker 1: invaluable is that we do have the Internet, and there 582 00:34:26,520 --> 00:34:29,560 Speaker 1: are lots of valuable resources out there. I spend a 583 00:34:29,600 --> 00:34:31,399 Speaker 1: lot of my time on Mayo Clinic. I think it's 584 00:34:31,400 --> 00:34:33,440 Speaker 1: dot org. I look at Stanford's website. I look at 585 00:34:33,480 --> 00:34:36,200 Speaker 1: Johns Hopkins, I look at NIH. I look at all 586 00:34:36,239 --> 00:34:40,799 Speaker 1: solid sources like that, and looking at those sources, I 587 00:34:40,840 --> 00:34:46,160 Speaker 1: save my own life kind of. My name is Kelly, 588 00:34:46,320 --> 00:34:50,200 Speaker 1: and for over twelve years I struggled with misdiagnoses and 589 00:34:50,400 --> 00:34:55,200 Speaker 1: medical conditions before being diagnosed with drug metabolism polymorphisms. 590 00:34:57,160 --> 00:35:00,400 Speaker 5: Next week on Symptomatic, we're excited to interduce Use, a 591 00:35:00,440 --> 00:35:04,959 Speaker 5: special bonus series you'll be hearing throughout season three Symptomatic 592 00:35:05,160 --> 00:35:09,160 Speaker 5: house Calls. In these episodes, we'll reconnect with past guests 593 00:35:09,200 --> 00:35:12,359 Speaker 5: to get updates on how they've been managing their conditions 594 00:35:12,600 --> 00:35:15,360 Speaker 5: and how their lives have changed since appearing on the show. 595 00:35:15,880 --> 00:35:19,439 Speaker 5: In our first house call, we revisit case number two 596 00:35:19,960 --> 00:35:23,640 Speaker 5: Athena from season one spoil Alert For those who haven't 597 00:35:23,640 --> 00:35:28,680 Speaker 5: heard this episode, Athena was diagnosed with Hydrodenitis superativa, a 598 00:35:28,719 --> 00:35:32,880 Speaker 5: debilitating chronic inflammatory condition. Join us as we catch up 599 00:35:32,880 --> 00:35:35,839 Speaker 5: with Athena and learn how her life with HS has 600 00:35:35,960 --> 00:35:38,399 Speaker 5: changed since appearing on Symptomatic. 601 00:35:38,960 --> 00:35:41,200 Speaker 7: It's really good to be able to do this follow 602 00:35:41,280 --> 00:35:44,800 Speaker 7: up from such a good place in my life, both 603 00:35:44,840 --> 00:35:48,480 Speaker 7: physically and emotionally. I'm happy to report that I'm in 604 00:35:48,520 --> 00:35:50,640 Speaker 7: the best health, probably of my life. 605 00:35:51,760 --> 00:35:54,719 Speaker 5: Don't miss this heartfelt update with Athena and look out 606 00:35:54,800 --> 00:35:58,799 Speaker 5: for more house calls later this season. As always, we 607 00:35:58,840 --> 00:36:01,400 Speaker 5: would love to hear from you. Send us your thoughts 608 00:36:01,400 --> 00:36:04,200 Speaker 5: on this episode or share a medical mystery of your 609 00:36:04,239 --> 00:36:09,680 Speaker 5: own at Symptomatic at iHeartMedia dot com, and please rate 610 00:36:09,719 --> 00:36:13,399 Speaker 5: and review Symptomatic wherever you get your podcasts. We'll see 611 00:36:13,440 --> 00:36:18,719 Speaker 5: you next time. Until then, be well. Symptomatic is a 612 00:36:18,719 --> 00:36:22,320 Speaker 5: production of Ruby Studio from iHeartMedia. Our show is hosted 613 00:36:22,360 --> 00:36:26,240 Speaker 5: by me Lauren Bret Pacheco. Executive producers are Matt Romano 614 00:36:26,400 --> 00:36:30,280 Speaker 5: and myself. Our EP of post production is James Foster. 615 00:36:30,680 --> 00:36:34,719 Speaker 5: Our supervising producer is Cierra Kaiser. Our writers are John 616 00:36:34,760 --> 00:36:38,360 Speaker 5: Irwin and Diana Davis. And our editor is Cierra Spreen.