WEBVTT - Case #20: Kelly 0:00:09.640 --> 0:00:13.039 It took a couple of years until more symptoms started. 0:00:13.480 --> 0:00:16.040 I looked back at pictures of me now, and it's 0:00:16.040 --> 0:00:18.120 hard to even recognize myself. 0:00:18.600 --> 0:00:21.560 She was ready to get the answers to continue to 0:00:21.640 --> 0:00:23.880 go back and live a good quality life. 0:00:24.680 --> 0:00:27.240 She had that surgery, and I was terrified of leaving 0:00:27.240 --> 0:00:30.319 her alone in there. I've never seen her in such 0:00:30.440 --> 0:00:33.960 debilitating pain. I just I didn't want to lose her. 0:00:34.120 --> 0:00:37.320 And I looked up and I saw my neurosurgeon, and 0:00:37.360 --> 0:00:39.720 he's asking me the questions like you see on TV 0:00:39.840 --> 0:00:41.760 when you know something really bad happen. 0:00:42.240 --> 0:00:45.080 Do you know your name? Do you know what year 0:00:45.159 --> 0:00:47.599 it is? And do you know who's the president? 0:00:53.920 --> 0:00:57.560 How terrifying would it be to fight an unknown enemy, 0:00:58.080 --> 0:01:01.880 one you didn't recognize and didn't see coming. What if 0:01:01.920 --> 0:01:06.000 that enemy was coming from within a disease that even 0:01:06.120 --> 0:01:11.800 doctors couldn't identify. Nearly half of all Americans suffer from 0:01:11.880 --> 0:01:16.560 some chronic illness, and many struggle for an accurate diagnosis. 0:01:17.600 --> 0:01:24.240 These are their stories. And Lauren Brave Pacheco and this 0:01:24.680 --> 0:01:42.560 is symptomatic. You immediately notice Kelly Dubois intelligence, strive, and 0:01:42.800 --> 0:01:46.600 analytical nature. It's clear she is not one to give 0:01:46.680 --> 0:01:49.920 up easily. These very traits have helped your navigate some 0:01:50.080 --> 0:01:54.000 of the most challenging moments in her life. Tell me 0:01:54.040 --> 0:01:57.720 a little bit about you. What are your passions? Anybody 0:01:57.760 --> 0:01:59.920 who knows you, what would they say you love? 0:02:00.800 --> 0:02:03.120 I often think about the question of what did you 0:02:03.160 --> 0:02:05.200 want to be when you grow up? And I don't 0:02:05.240 --> 0:02:07.360 know what I wanted to be, other than I know 0:02:07.480 --> 0:02:09.680 I wanted to be a mom. I wanted a career, 0:02:09.680 --> 0:02:13.120 and I wanted to be intrigued with a career and 0:02:13.320 --> 0:02:16.600 use my brain a ton because I appreciate and enjoying that. 0:02:16.639 --> 0:02:18.840 But the one thing I wanted to be was a mom. 0:02:19.440 --> 0:02:23.480 Kelly has achieved that goal alongside her husband Chuck, in 0:02:23.520 --> 0:02:26.519 a relationship founded on countless shared connections. 0:02:27.160 --> 0:02:31.360 We're both techies, lots of gardening in our yard and 0:02:31.560 --> 0:02:35.560 lots of picture taking things like that. She's very smart, 0:02:36.000 --> 0:02:40.120 pretty driven. She likes things to be solved, she likes 0:02:40.400 --> 0:02:44.160 definitive answers, and she's probably one of the most caring 0:02:44.160 --> 0:02:45.160 people I know as well. 0:02:46.320 --> 0:02:48.799 Kelly and Chuck share a blended family and have been 0:02:48.800 --> 0:02:51.720 married for over a decade, cultivating a life rich in 0:02:51.800 --> 0:02:56.120 love and mutual support. However, their lives soon took an 0:02:56.200 --> 0:03:02.400 unexpected turn, testing their young family in ways they never imagined. So, 0:03:02.720 --> 0:03:09.720 just in terms of your health challenges looking back now, 0:03:10.240 --> 0:03:13.919 is there a time where you specifically remember a symptom 0:03:14.040 --> 0:03:16.600 manifesting itself that seemed unusual. 0:03:17.240 --> 0:03:20.000 I was actually thinking you would ask me this, because 0:03:20.000 --> 0:03:23.840 that was very healthy my entire life up until this happened. 0:03:24.200 --> 0:03:27.040 But when I look back, when I was sixteen, I 0:03:27.080 --> 0:03:30.760 started getting migraine headaches, and they're a thing in our family. 0:03:30.919 --> 0:03:34.000 My brother has them, my mother has them. And I 0:03:34.000 --> 0:03:37.960 would be taking different medications and none of them really worked. 0:03:38.480 --> 0:03:40.800 And I was told, take one pill. If you still 0:03:40.800 --> 0:03:42.640 have the headache coming on half. 0:03:42.480 --> 0:03:44.840 Hour later, take the other one. 0:03:45.080 --> 0:03:48.760 And I was awake for two days with a headache 0:03:49.280 --> 0:03:50.160 or they would. 0:03:50.080 --> 0:03:52.360 Knock me out and I would sleep. 0:03:52.560 --> 0:03:55.680 I remember one year, freshman year in college, I was 0:03:55.680 --> 0:03:58.360 put on a new med to help try to battle 0:03:58.400 --> 0:04:00.960 my migraines and I was just sleep being constantly. So 0:04:01.000 --> 0:04:03.360 I contacted my doctor. I'm like, this is not working. 0:04:04.720 --> 0:04:05.800 I can't live like this. 0:04:06.640 --> 0:04:10.080 That's fascinating. So their clues as early as sixteen and 0:04:10.240 --> 0:04:14.680 nineteen as to what would await you in your adult 0:04:14.720 --> 0:04:15.880 health challenges. 0:04:16.600 --> 0:04:20.520 Yeah, it's very interesting hindsight, you know, twenty twenty. 0:04:20.839 --> 0:04:26.600 Always what Kelly didn't realize her reaction to come in 0:04:26.720 --> 0:04:31.120 migraine medication was an early warning sign of the challenges ahead. 0:04:31.720 --> 0:04:35.320 At the time, she brushed it off, But several years later, 0:04:35.480 --> 0:04:40.480 during her first pregnancy, new symptoms began to surface. When 0:04:40.560 --> 0:04:44.400 is the next time that something happens to you physically 0:04:44.839 --> 0:04:48.440 that you realize something is really a mess. 0:04:48.960 --> 0:04:51.800 So I'm about thirty two. I'd had Johna and Rachel, 0:04:52.880 --> 0:04:55.760 and I started having heartburn. And I actually never had 0:04:55.760 --> 0:04:58.440 heartburn until I was pregnant. I didn't even know what 0:04:58.480 --> 0:05:02.560 it was. Andna ends up had a heidelhernia. So the 0:05:02.600 --> 0:05:04.960 sphincter ends up failing at the base of I think 0:05:05.000 --> 0:05:07.720 the esophagus, and part of the stomach comes up. Then 0:05:07.720 --> 0:05:11.159 you have stomach acid coming up into your esophagus. 0:05:11.520 --> 0:05:14.680 She had a lot of morning sickness, so throwing up, 0:05:14.800 --> 0:05:17.000 I had to hold her hair out of the toilet 0:05:17.080 --> 0:05:21.240 and the usual uh husbandly things. And I mean I 0:05:21.240 --> 0:05:23.240 think she got put on bed rest for a little 0:05:23.240 --> 0:05:25.920 while as well, all things considered. She's a trooper. 0:05:26.480 --> 0:05:30.039 So I talked to my PCP and he prescribed a 0:05:30.040 --> 0:05:32.920 proton pump inhibitor because at that time you couldn't get 0:05:32.920 --> 0:05:33.719 them over the counter. 0:05:34.360 --> 0:05:39.000 A proton pump inhibitor reduces stomach acid production by blocking 0:05:39.040 --> 0:05:43.360 the enzyme responsible for acid release, helping to relieve conditions 0:05:43.440 --> 0:05:45.440 like heartburn and acid reflux. 0:05:45.960 --> 0:05:49.599 I almost immediately start gaining weight, like ten pounds a 0:05:49.600 --> 0:05:52.600 month weight, and I go to talk to my doctors. 0:05:52.680 --> 0:05:56.119 I'm like, there's something wrong, like I shouldn't be gaining 0:05:56.120 --> 0:05:57.880 weight this quickly, and they're like, well, we'll test your 0:05:57.880 --> 0:06:00.280 thyroid and stuff like that. They tested other hormone and 0:06:00.320 --> 0:06:02.680 they were like, well, you're about thirty two thirty three 0:06:02.720 --> 0:06:03.760 now you just had kids. 0:06:04.279 --> 0:06:05.960 It just happens women gain weight. 0:06:06.720 --> 0:06:10.080 They're like, your metabolism slows down, and I'm like, well 0:06:10.320 --> 0:06:12.000 it shouldn't come too a screeching hull. 0:06:12.560 --> 0:06:14.880 I was buying new pants every month. 0:06:15.880 --> 0:06:19.680 How did it impact her mindset and her self esteem? 0:06:19.960 --> 0:06:24.200 She started not wanting to have her pictures taken. Even 0:06:24.240 --> 0:06:27.039 me just taking a quick snap of her, She's like, 0:06:27.040 --> 0:06:28.920 you got to delete that, and she just didn't want 0:06:28.960 --> 0:06:31.680 to remember those moments. 0:06:32.279 --> 0:06:34.039 I look back at pictures of me now and I 0:06:34.080 --> 0:06:38.680 don't it's hard to like even recognize myself. And I 0:06:38.760 --> 0:06:41.080 look at pictures of my fortieth birthday because I don't 0:06:41.120 --> 0:06:44.760 remember it, and I just look miserable. I could tell 0:06:44.800 --> 0:06:47.800 I was just I was in so much pain, and 0:06:47.839 --> 0:06:50.039 then all these symptoms built up, and it's just so 0:06:50.880 --> 0:06:54.400 unwell feeling. It's almost like I was a different person. 0:06:55.240 --> 0:06:59.560 So you're trapped within your own body basically. 0:06:59.600 --> 0:07:02.919 That's a perfect way to explain it. I was like 0:07:02.960 --> 0:07:03.480 in prison. 0:07:07.000 --> 0:07:10.440 Kelly's rapid weight gain began in her early thirties and 0:07:10.520 --> 0:07:15.200 continued into her forties. Understandably, it didn't take long for 0:07:15.280 --> 0:07:18.640 it to affect her mental well being, leaving her confused 0:07:18.880 --> 0:07:24.040 and frustrated. And just when you thought that things couldn't 0:07:24.360 --> 0:07:28.400 get any worse, you start manifesting another physical symptom. 0:07:29.120 --> 0:07:32.320 Yeah, I remember. It was February two thousand and seven. 0:07:32.360 --> 0:07:34.240 I was sitting in my office at work, and I 0:07:34.360 --> 0:07:38.000 live in upstate New York. It's cold and snowy here. 0:07:38.480 --> 0:07:41.640 It's really bad in January and February, and I'm sitting 0:07:41.640 --> 0:07:45.320 in my office and I have sweat pouring down from 0:07:45.360 --> 0:07:48.240 the top of my head, like I am so hot, 0:07:48.920 --> 0:07:52.560 and I am just profusely sweating for no reason. Now 0:07:52.560 --> 0:07:56.840 I'm talking like running down my face, running down through 0:07:56.880 --> 0:08:00.120 my hair. I'd have to wear extra clothes underneath my 0:08:00.160 --> 0:08:04.600 work clothes to absorb the sweat. It was bizarre, and 0:08:05.320 --> 0:08:08.080 I put up with it until like June, and then 0:08:08.120 --> 0:08:10.679 I contacted my PCP and said, this is a normal. 0:08:13.360 --> 0:08:16.520 What did you think? It was initially early onset of menopause. 0:08:17.400 --> 0:08:20.880 So he's like, let's see if you have a pituitary tumor, 0:08:21.240 --> 0:08:24.120 we'll give you an MRI because they was thinking maybe 0:08:24.120 --> 0:08:27.880 it was an endocrine thing with the weight increase and 0:08:28.080 --> 0:08:30.560 the sweating and stuff like that. So I'm like, okay, 0:08:30.720 --> 0:08:32.360 we'll go for it. I'm the type of person I 0:08:32.440 --> 0:08:34.680 always want to figure out what's wrong with me because 0:08:34.679 --> 0:08:35.920 I want to fix it because I don't want to 0:08:35.960 --> 0:08:36.920 feel that way anymore. 0:08:37.640 --> 0:08:42.840 And so they decided to test for pituitary issue YEP, 0:08:43.080 --> 0:08:44.520 and what do they uncover? 0:08:45.600 --> 0:08:48.360 What they found in the radiology report was a very 0:08:48.400 --> 0:08:52.719 small three to four millimeter tumor. They thought, so, your 0:08:52.720 --> 0:08:55.440 peituitary glands about the size of a pee. And they 0:08:55.480 --> 0:08:58.680 were thinking that they found a tumor on the anterior 0:08:58.720 --> 0:09:01.160 on the front of my pituitary gland, so. 0:09:01.160 --> 0:09:04.760 They recommended removal of that, and I mean we had 0:09:04.960 --> 0:09:06.520 quite a bit of hope that that might be the 0:09:06.600 --> 0:09:07.120 right path. 0:09:07.880 --> 0:09:12.840 I am visited with another endochronologist who was a partner 0:09:13.080 --> 0:09:17.200 at a pituitary tumor clinic where I live, and met 0:09:17.240 --> 0:09:19.920 with a neurosurgeon as well, and I did have higher 0:09:20.080 --> 0:09:23.560 growth hormone levels. And I'm getting sicker and sicker over this. 0:09:23.640 --> 0:09:27.200 Another two year span, I was finally diagnosed with a 0:09:27.280 --> 0:09:29.280 rare endocrine condition called acromegaly. 0:09:30.000 --> 0:09:33.160 And will you, just, in Layman's term, explain to me 0:09:33.240 --> 0:09:33.760 what that is. 0:09:34.360 --> 0:09:37.920 It's called gigantism in the Princess Bride, the kind giant 0:09:38.160 --> 0:09:42.120 he had in real life, gigantism. And it's a condition where, 0:09:42.720 --> 0:09:44.880 depending on when it happens in your life, you can 0:09:44.920 --> 0:09:49.679 get extraordinarily tall. When it happens and you're older, it 0:09:49.760 --> 0:09:53.760 produces enough hormones where you do have hyperhydrosis, You do 0:09:53.840 --> 0:09:56.760 gain weight, your hands, your feet, and your head can 0:09:56.800 --> 0:09:58.560 grow a little bigger, but your rest of your body 0:09:58.559 --> 0:10:01.440 won't get super tall if you're older. What it happens 0:10:02.200 --> 0:10:04.640 body wide pain, migraine, stuff like that. 0:10:05.120 --> 0:10:08.160 Did you get any solace initially from that. 0:10:08.080 --> 0:10:13.520 Diagnosis, Yeah, It's finally like the enemy had a name, yeah, 0:10:13.559 --> 0:10:17.199 and we know what's wrong with me, and finally I 0:10:17.240 --> 0:10:18.160 can get some treatment. 0:10:18.679 --> 0:10:22.240 Acromaglia, I believe is a one in one million diagnosis. 0:10:22.720 --> 0:10:24.720 What was the treatment and how did you respond? 0:10:25.720 --> 0:10:30.079 The first response is actually brain surgery. 0:10:31.080 --> 0:10:35.920 After about a decade of unexplained symptoms, Kelly finally felt 0:10:35.960 --> 0:10:39.160 like she had some answers, but the solution would pose 0:10:39.320 --> 0:10:43.760 new questions. The doctors plan to remove her pituitary gland, 0:10:44.160 --> 0:10:47.320 a small piece sized gland located at the base of 0:10:47.360 --> 0:10:51.560 the brain that produces several important hormones. This would reduce 0:10:51.600 --> 0:10:54.800 the amount of growth hormone in her body, hopefully bringing 0:10:54.800 --> 0:10:59.640 her some relief. Kelly, I'm already just thinking of you 0:11:00.120 --> 0:11:04.800 as a young mother with a career, basically bursting out 0:11:04.840 --> 0:11:08.200 of your clothing and then feeling like you can be 0:11:08.320 --> 0:11:11.839 drenched in your own sweat at any given point and 0:11:11.920 --> 0:11:15.480 not knowing what's happening. How difficult was that for you 0:11:15.559 --> 0:11:17.520 to navigate on a daily basis? 0:11:18.320 --> 0:11:21.280 Extraordinarily because one of the symptoms I was developing was 0:11:21.280 --> 0:11:25.200 also brain fog and inability to think clearly. And I'm 0:11:25.240 --> 0:11:27.760 just trying my best, and I have a wonderful husband 0:11:27.800 --> 0:11:32.320 who helps with my kids. Very fortunate, thank God. But 0:11:32.840 --> 0:11:36.960 I remember one morning when I wasn't feeling well and 0:11:37.720 --> 0:11:39.560 I must have taken the day off because I was sick, 0:11:40.160 --> 0:11:43.280 and Chuck brought the girls to see me, and they 0:11:43.360 --> 0:11:47.360 were they were in preschool daycare type of age, and 0:11:47.400 --> 0:11:50.079 they both ran up and gave me their stuffed animals 0:11:50.360 --> 0:11:52.040 so that I had someone to stay with me while 0:11:52.040 --> 0:11:55.520 they were gone at school all day. And I thought, 0:11:56.040 --> 0:11:58.199 how wonderful it is that I have kids who are 0:11:58.200 --> 0:12:02.800 so little yet so incredibly compassionate. But I'm so mad 0:12:02.880 --> 0:12:05.360 that we're not figuring this out, because they shouldn't have 0:12:05.440 --> 0:12:08.880 to be in that position at this age to worry 0:12:08.920 --> 0:12:10.840 about mommy while they're at preschool. 0:12:11.559 --> 0:12:15.200 Yeah, because you feel like you should be the caregiver. 0:12:15.760 --> 0:12:19.200 Yeah, I should be taking care of them, and it's 0:12:19.240 --> 0:12:21.240 the opposite. And they're not even five years old. 0:12:21.760 --> 0:12:23.640 It's a little tough with the girls, not only because 0:12:23.679 --> 0:12:26.920 I mean she just generally, whether she's in pain or 0:12:27.040 --> 0:12:30.480 just always a little uncomfortable. I mean it made it 0:12:30.520 --> 0:12:33.240 so she couldn't like play with them on the floor 0:12:33.320 --> 0:12:35.560 or anything like that for an extended period of time. 0:12:36.600 --> 0:12:40.239 She didn't toss them around or go for walks as 0:12:40.320 --> 0:12:41.440 much as she really wanted. 0:12:44.679 --> 0:12:48.960 Before the surgery, Kelly took a glucose tolerance test, which 0:12:49.000 --> 0:12:55.000 revealed an unexpected twist she didn't actually have acromegalie, leaving 0:12:55.080 --> 0:13:00.000 the mystery of her condition unsolved. Despite this, doctors decide 0:13:00.240 --> 0:13:03.720 to move forward with the surgery to address the risks 0:13:03.760 --> 0:13:07.400 of her growth hormone levels causing an enlarged heart or 0:13:07.520 --> 0:13:14.559 organ failure. And what did the surgery entail? How invasive 0:13:14.720 --> 0:13:15.000 was it? 0:13:15.720 --> 0:13:18.240 So what they do is your pituitary gland is kind 0:13:18.240 --> 0:13:20.520 of like in the middle of your brain, hanging down 0:13:20.679 --> 0:13:24.160 from I'm going to call it a little dongle, and it's, 0:13:24.679 --> 0:13:26.480 like I said, the size of a p So they 0:13:26.520 --> 0:13:30.920 went in through my right nostril, removed some boning cartilage 0:13:30.920 --> 0:13:34.320 from my skull, and they they cut to open like 0:13:34.400 --> 0:13:37.920 there's a membrane around the pituitary gland, and they kind 0:13:37.920 --> 0:13:41.720 of like vacuum out what they believe is tumor material 0:13:42.200 --> 0:13:45.440 and then they they back out and the goal is 0:13:45.480 --> 0:13:45.839 to go home. 0:13:45.880 --> 0:13:46.440 The next day. 0:13:47.040 --> 0:13:52.480 I had a five day long spinal fluid leak, and 0:13:52.720 --> 0:13:56.520 after the surgery, I did not wake up in the 0:13:56.559 --> 0:14:01.240 timeframe that they thought I would And I remember waking 0:14:01.360 --> 0:14:03.920 up in my room and the person standing above me 0:14:04.040 --> 0:14:07.439 was actually my neural surgeon, and I was in the 0:14:07.480 --> 0:14:10.760 brain I see you. And I remember looking out the 0:14:10.760 --> 0:14:14.839 window and thinking, why is it getting dark outside? Because 0:14:14.880 --> 0:14:17.400 my surgery was again the first thing in the morning, 0:14:17.480 --> 0:14:19.120 like six point thirty in the morning. And I looked 0:14:19.200 --> 0:14:22.600 up and I saw my neural surgeon and he's asking 0:14:22.600 --> 0:14:24.760 me the questions like you see on TV when you 0:14:24.800 --> 0:14:28.000 know something really bad happened. Do you know your name? 0:14:28.720 --> 0:14:31.120 Do you know what year it is? And do you 0:14:31.160 --> 0:14:35.800 know who's the president? I remember thinking something bad happened. 0:14:39.480 --> 0:14:42.760 May I ask you, as her husband, what that was 0:14:42.920 --> 0:14:47.240 like for you being on the other side of that 0:14:47.760 --> 0:14:48.560 hospital door. 0:14:49.360 --> 0:14:51.640 Yeah, that was painful. I'd like to say that's where 0:14:51.640 --> 0:14:53.640 all my gray hair came from, but that's probably not 0:14:53.640 --> 0:14:57.840 true at all. She was in excruciating pain the whole 0:14:57.880 --> 0:15:01.240 time she was there, because every time she moved around 0:15:01.320 --> 0:15:04.400 her her head felt like it was gonna I don't 0:15:04.440 --> 0:15:06.560 know if explode is the right word it Maybe imploded 0:15:06.640 --> 0:15:09.920 is a better word. I was terrified of leaving her 0:15:10.080 --> 0:15:13.200 alone in there, and I just I didn't want to 0:15:13.200 --> 0:15:13.640 lose her. 0:15:14.080 --> 0:15:16.800 I am so fortunate that someone you know, what are 0:15:16.800 --> 0:15:19.080 the lines in your wedding? It's sickness and in health. 0:15:19.680 --> 0:15:22.680 Let me tell you, I'm so lucky I had someone 0:15:22.680 --> 0:15:24.760 who was so willing to adhere to the you know, 0:15:25.320 --> 0:15:28.240 but not because he had to, but because he wants to. 0:15:29.200 --> 0:15:33.040 After Kelly's recovery and discharge, she thought the worst was 0:15:33.080 --> 0:15:36.320 behind her, but the very next day she was back 0:15:36.320 --> 0:15:40.120 in the hospital, this time with kidney stones. To make 0:15:40.200 --> 0:15:44.680 matters worse, cat scans from her surgery revealed a breast mass, 0:15:45.040 --> 0:15:48.960 sending her into the operating room again a week later. Thankfully, 0:15:49.080 --> 0:15:52.680 it was benign. As she recovered from these setbacks, she 0:15:52.720 --> 0:15:57.360 began to feel a small sense of relief. Unfortunately, that 0:15:57.440 --> 0:16:00.240 relief didn't last long time. 0:16:00.000 --> 0:16:00.640 And went on though. 0:16:00.680 --> 0:16:04.640 I started gating weight again and having the symptoms come back. 0:16:04.720 --> 0:16:08.280 Hyperhydrosis got worse, the flushing got worse, the body wide pain. 0:16:08.360 --> 0:16:12.040 At one point, I'd taken a shower and the top 0:16:12.120 --> 0:16:14.880 layer of my scalp underneath my hair, the whole thing 0:16:15.000 --> 0:16:19.400 peeled off, and I was having this odor come out 0:16:19.400 --> 0:16:22.760 of my body. I'd smell like chemicals. It was bizarre, 0:16:22.800 --> 0:16:25.720 and if I would drink a decaf coffee. I would 0:16:25.720 --> 0:16:28.880 smell a campfire smoke, and I would finding my lymph 0:16:28.920 --> 0:16:31.720 nodes in my armpits swelling up. And I was just 0:16:31.880 --> 0:16:34.680 getting bigger and bigger. I was almost two hundred pounds. 0:16:35.440 --> 0:16:38.600 What kept you going? My kids and my husband, and 0:16:38.640 --> 0:16:43.000 like my family, I can't imagine not being here for them. 0:16:45.200 --> 0:16:48.560 So I remember one time in February twenty fifteen, I'm 0:16:48.600 --> 0:16:51.080 laying in bed, It's like seven o'clock at night, and 0:16:51.120 --> 0:16:53.040 I hear my family in the living room watching TV. 0:16:53.120 --> 0:16:55.040 I think they were watching, you know, the game shows 0:16:55.120 --> 0:16:57.600 or whatever, and I'm like, I had this number running 0:16:57.600 --> 0:17:01.880 through my head over and over again, digitous one, two three, 0:17:02.000 --> 0:17:04.439 you know, four, five, six seventy nine, not that number, 0:17:04.480 --> 0:17:06.960 but over and over and over. 0:17:06.920 --> 0:17:08.639 Like five minutes, like what is that? What is that? 0:17:08.680 --> 0:17:10.240 What is that? Why do I know that? I don't 0:17:10.240 --> 0:17:11.600 know what that number is? What is it? 0:17:12.000 --> 0:17:13.840 And then it occurred to me it was my own 0:17:13.880 --> 0:17:16.720 social Security number that I've known since I was in 0:17:16.760 --> 0:17:19.879 eighth grade. And I didn't know what it was. I 0:17:19.960 --> 0:17:24.359 knew it, but I'm like, oh, something's really wrong with me. 0:17:26.440 --> 0:17:29.119 She was always kind of inn a little bit of 0:17:29.480 --> 0:17:32.600 a haze. She wasn't quite as chris and witty as 0:17:33.119 --> 0:17:36.040 she used to be. Then it takes her a longer 0:17:36.119 --> 0:17:38.720 road to get the answers for most things. 0:17:39.920 --> 0:17:45.440 Post surgery, These cognitive issues piled onto years of physical symptoms. 0:17:45.880 --> 0:17:48.880 Once again, Kelly turned to her doctors for help. 0:17:49.720 --> 0:17:53.120 And that's the thing is when you are chronically ill 0:17:53.240 --> 0:17:55.840 in trying to figure out what's wrong with you, the 0:17:55.920 --> 0:17:58.760 stress of going to an appointment, the nervousness of meeting 0:17:58.760 --> 0:18:02.000 a new doctor, and then finding out that that's not 0:18:02.080 --> 0:18:05.120 what's wrong with you, over and over and over again. 0:18:05.200 --> 0:18:09.760 It's like constantly getting bamboozled. After another doctor appointment, they 0:18:09.800 --> 0:18:11.320 told me they didn't know what was wrong with me. 0:18:11.520 --> 0:18:14.440 And I locked myself in my bedroom because it was 0:18:14.480 --> 0:18:17.680 August and my kids were still home from school because 0:18:17.680 --> 0:18:20.160 they've already worried enough about me. And I did one 0:18:20.160 --> 0:18:23.040 thing I'd never done before, and I don't even know why. 0:18:23.760 --> 0:18:26.240 I got really mad. And I wasn't mad at my doctor, 0:18:26.320 --> 0:18:30.000 because she's wonderful. I was mad at the system where 0:18:30.000 --> 0:18:32.240 we don't easily figure out what's wrong with people. 0:18:32.280 --> 0:18:33.720 And I don't know. I felt angry. 0:18:33.920 --> 0:18:38.840 I got really, really mad despite all she'd endured, Kelly 0:18:38.920 --> 0:18:43.280 refused to let her struggles define her. After multiple surgeries 0:18:43.280 --> 0:18:46.160 and relentless symptoms, she knew it was time to take 0:18:46.200 --> 0:18:49.680 the next steps into her own hands. Determined to find 0:18:49.720 --> 0:18:53.080 concrete answers, Kelly knew there was one place that could 0:18:53.160 --> 0:18:55.560 offer her hope, the Mayo Clinic. 0:18:56.560 --> 0:18:58.840 I was getting to the point where I'm like, there 0:18:58.920 --> 0:19:00.280 is something else wrong with me. 0:19:02.560 --> 0:19:06.439 We'll be right back with Symptomatic, a medical mystery podcast. 0:19:09.800 --> 0:19:18.080 Now back to Symptomatic, a medical mystery podcast. For Kelly Dubois, 0:19:18.119 --> 0:19:20.960 it all began with a diagnosis of a hiatal hernia 0:19:21.359 --> 0:19:25.400 and sudden, unexplained weight gain. This was followed by two 0:19:25.520 --> 0:19:29.000 decades of illness and brain surgery that left her with 0:19:29.200 --> 0:19:34.280 irreparable damage. Throughout this time, Kelly fought a relentless battle 0:19:34.640 --> 0:19:39.200 seeking a cause, educating herself and pushing her concerns aside, 0:19:39.720 --> 0:19:43.760 only for her condition to persist. That's when she decided 0:19:43.880 --> 0:19:46.520 the only thing left to do was to pursue the 0:19:46.640 --> 0:19:50.200 top researchers and doctors at the Mayo Clinic, a renowned 0:19:50.240 --> 0:19:54.240 medical center known for its integrated healthcare, education and research, 0:19:54.640 --> 0:19:55.800 to take on her case. 0:20:04.119 --> 0:20:07.360 And they said, well, let's talk about what you think 0:20:07.440 --> 0:20:12.119 might be wrong with you. So, in a nutshell, I'm like, 0:20:12.600 --> 0:20:14.879 I think I was misdiagnosed. I think I don't have 0:20:14.920 --> 0:20:17.600 an endocrine condition. I think I might have brain damage 0:20:17.840 --> 0:20:20.359 from the surgery. But I go I think that the 0:20:20.400 --> 0:20:22.240 big thing that's really wrong with me has got something 0:20:22.240 --> 0:20:25.760 to do with medications. And they're like, okay, And I 0:20:25.840 --> 0:20:26.840 was there three weeks later. 0:20:27.520 --> 0:20:30.639 Wow, I love this story, Kelly. I love that the 0:20:30.680 --> 0:20:37.000 fact you empowered yourself out of just fear and helplessness. 0:20:37.040 --> 0:20:41.080 You hit this rock bottom and you propelled yourself forward 0:20:41.160 --> 0:20:41.640 from it. 0:20:42.280 --> 0:20:46.159 Yeah, and like, I knew there was something wrong with 0:20:46.240 --> 0:20:47.840 me that we haven't figured out. 0:20:48.760 --> 0:20:52.280 The following months were a whirlwind of flights between Kelly's 0:20:52.320 --> 0:20:54.879 home in New York and the Mayo Clinic in Minnesota. 0:20:55.359 --> 0:20:59.920 Visit's filled with endless tests and consultations. The shuffle halted 0:21:00.359 --> 0:21:04.240 when Kelly was connected with the Mayo Clinics doctor Eric Mattey, 0:21:04.840 --> 0:21:08.840 marking a critical turning point in her search for answers. 0:21:09.680 --> 0:21:14.159 At Mayo Clinic, people are often you know, they're desperate 0:21:14.280 --> 0:21:17.119 for help by the time they get to you, guys, 0:21:17.160 --> 0:21:21.400 because you are the gold standard for answers and solutions 0:21:21.400 --> 0:21:24.119 for people who have been seeking them, sometimes like Kelly 0:21:24.160 --> 0:21:27.960 for over a decade. Do you remember Kelly the first 0:21:28.040 --> 0:21:28.720 time you met. 0:21:29.600 --> 0:21:33.840 I do just like yesterday, And there are patients who 0:21:34.000 --> 0:21:37.399 come in and you could tell that they other point 0:21:37.520 --> 0:21:42.280 where they're really looking for answers. And you know, I 0:21:42.359 --> 0:21:45.440 talk about the importance of really listening to our patients, 0:21:45.440 --> 0:21:48.439 and I think one of the things that Mayo Clinic 0:21:48.560 --> 0:21:51.040 does very well has to do with collaboration. And if 0:21:51.040 --> 0:21:54.280 you go back to Kelly's story, it wasn't just seen 0:21:54.400 --> 0:21:58.040 me by it or seeing multiple providers at Mayo Clinic 0:21:58.720 --> 0:22:03.119 who took the time to really review her condition, her case. 0:22:03.760 --> 0:22:05.679 And Kelly came in, you could tell that she had 0:22:05.720 --> 0:22:07.640 done a lot of research, she had done a lot 0:22:07.640 --> 0:22:10.080 of reading, She had a zale for life, and so 0:22:10.160 --> 0:22:13.119 she was ready to get the answers to continue to 0:22:13.200 --> 0:22:15.720 go back and live a good quality life. 0:22:16.280 --> 0:22:21.439 Doctor Mattee specializes in pharmacogenomics, which focuses on understanding how 0:22:21.480 --> 0:22:26.160 a person's genetics affect their response to medications. His work 0:22:26.200 --> 0:22:30.320 is at the forefront of personalized medicine, using genetic insights 0:22:30.359 --> 0:22:35.160 to create treatments tailored to each individual. What was it 0:22:35.600 --> 0:22:40.119 that struck you in retrospect as so unique about her case? 0:22:41.080 --> 0:22:44.879 When Kelly came in and talked about the medications that 0:22:44.960 --> 0:22:49.480 she was on, and I review the medications again going 0:22:49.600 --> 0:22:53.679 back to the basics of has this medication been effective? 0:22:53.760 --> 0:22:57.920 Has this medication caused any side effect? There very few 0:22:58.400 --> 0:23:04.320 that line up with what was expected for patients who 0:23:04.400 --> 0:23:10.040 were not metabolizing specific medication. In the case of Kelly, 0:23:10.600 --> 0:23:14.080 one of the genes, she was not a normal metabolizer 0:23:14.119 --> 0:23:17.840 of that gene. And just for your listeners in general, 0:23:17.960 --> 0:23:20.800 for some medications and not all medications that have a 0:23:20.880 --> 0:23:24.680 dry gene interaction, if a patient does not metabolize the 0:23:24.760 --> 0:23:30.040 medication as expected, some medication serum concentration can go up 0:23:30.119 --> 0:23:33.560 and cause some side effects. And so in Kelly's case, 0:23:33.760 --> 0:23:37.080 after understanding that there was a potential that if we 0:23:37.160 --> 0:23:41.240 knew more about her genes, we could shere light on 0:23:41.400 --> 0:23:46.359 why she was experiencing the side effects from this particular medication. 0:23:46.720 --> 0:23:49.200