1 00:00:03,360 --> 00:00:05,920 Speaker 1: Ruby. 2 00:00:06,000 --> 00:00:10,000 Speaker 2: She was not in her seatbelt, literally like contorting, and 3 00:00:10,039 --> 00:00:12,920 Speaker 2: she just clearly you could not get comfortable. The pain 4 00:00:13,039 --> 00:00:16,680 Speaker 2: was so severe, and I remember her thanking me for 5 00:00:16,840 --> 00:00:19,680 Speaker 2: taking care of her, as if she thought she was 6 00:00:19,720 --> 00:00:20,400 Speaker 2: gonna die. 7 00:00:20,520 --> 00:00:22,960 Speaker 3: You know, at that age specifically, you see doctors as 8 00:00:23,000 --> 00:00:26,279 Speaker 3: like literally your heroes. They're supposed to know everything, and 9 00:00:26,360 --> 00:00:28,560 Speaker 3: so when people were like, oh, I don't know, that 10 00:00:28,800 --> 00:00:31,520 Speaker 3: was like, Oh, what do you mean you don't know? 11 00:00:32,240 --> 00:00:35,080 Speaker 4: I am ashamed that I did contribute to some of 12 00:00:35,120 --> 00:00:38,040 Speaker 4: that skepticism when I first met them. 13 00:00:38,360 --> 00:00:41,440 Speaker 5: I didn't fully understand at that point in my. 14 00:00:41,479 --> 00:00:44,919 Speaker 4: Career how complex a brain and body can be. 15 00:00:45,360 --> 00:00:48,560 Speaker 3: I promise you, like on everything I love, this is real. 16 00:00:49,560 --> 00:00:53,320 Speaker 1: How terrifying would it be to fight an unknown enemy, 17 00:00:53,680 --> 00:00:57,360 Speaker 1: one you didn't recognize and didn't see coming. What if 18 00:00:57,400 --> 00:01:00,600 Speaker 1: that enemy was coming from within a disease that even 19 00:01:00,720 --> 00:01:04,880 Speaker 1: doctors couldn't identify. Nearly half of Americans suffer from some 20 00:01:05,040 --> 00:01:09,840 Speaker 1: chronic illness, and many struggle for an accurate diagnosis. These 21 00:01:10,040 --> 00:01:15,120 Speaker 1: are their stories. I'm Lauren Bray Pacheco, and this is symptomatic. 22 00:01:20,600 --> 00:01:23,760 Speaker 1: Sarah Marshall is without a doubt on the list for 23 00:01:23,920 --> 00:01:26,679 Speaker 1: Mother of the year. Having come from a background in 24 00:01:26,720 --> 00:01:29,560 Speaker 1: social work, she has taught her children the value of 25 00:01:29,600 --> 00:01:34,280 Speaker 1: community and the importance of advocacy. She's smart, intuitive, and 26 00:01:34,520 --> 00:01:37,560 Speaker 1: fierce in her defense of what's right. She is a 27 00:01:37,600 --> 00:01:40,319 Speaker 1: mother to four daughters that span eight years. 28 00:01:41,000 --> 00:01:45,200 Speaker 2: My girls are incredibly close. Growing up, they didn't fight 29 00:01:45,240 --> 00:01:48,280 Speaker 2: all that much, but when they did, I would basically 30 00:01:48,280 --> 00:01:51,240 Speaker 2: tell them that person is your sister and she will 31 00:01:51,240 --> 00:01:52,920 Speaker 2: be your sister the rest of your life, and you 32 00:01:52,960 --> 00:01:56,000 Speaker 2: can't treat her like that. I only remember saying that 33 00:01:56,280 --> 00:02:00,000 Speaker 2: maybe once or twice, but they still talk about that message. 34 00:02:00,360 --> 00:02:02,360 Speaker 2: It's really a special bond that they all have. 35 00:02:02,800 --> 00:02:05,360 Speaker 1: The youngest of Sarah's daughters is Phoebe. 36 00:02:05,720 --> 00:02:09,120 Speaker 3: My name is Phoebe Marshall and I'm seventeen years old. 37 00:02:10,120 --> 00:02:11,840 Speaker 1: How do you spend your time when you're not in school? 38 00:02:12,400 --> 00:02:15,560 Speaker 3: I work at an after school childcare program that takes 39 00:02:15,600 --> 00:02:16,359 Speaker 3: up a lot of my time. 40 00:02:16,400 --> 00:02:17,400 Speaker 1: I really like working. 41 00:02:17,880 --> 00:02:19,840 Speaker 3: I'm a pretty average Shange girl. I hang up with 42 00:02:19,840 --> 00:02:25,320 Speaker 3: my friends, go on food trips, homework, all the regular things. 43 00:02:25,440 --> 00:02:27,360 Speaker 1: And I'm sure that being the baby of the bunch, 44 00:02:27,440 --> 00:02:31,840 Speaker 1: Phoebe grew up with four mothers in the house indeed 45 00:02:32,280 --> 00:02:36,320 Speaker 1: very much Influenced by the inspirational work that her mother does, 46 00:02:36,560 --> 00:02:39,400 Speaker 1: Phoebe has already made the decision to follow in her 47 00:02:39,440 --> 00:02:41,040 Speaker 1: footsteps professionally. 48 00:02:41,600 --> 00:02:44,320 Speaker 3: I am going to study social work. I want to 49 00:02:44,840 --> 00:02:48,600 Speaker 3: first be in the child welfare system with CPS, and 50 00:02:48,639 --> 00:02:50,760 Speaker 3: then once I get married and have kids and need 51 00:02:50,800 --> 00:02:53,000 Speaker 3: a more slow moving job, I'm going to be a 52 00:02:53,040 --> 00:02:54,079 Speaker 3: school social worker. 53 00:02:55,480 --> 00:02:58,600 Speaker 1: From an early age, Sarah noticed that Phoebe seemed to 54 00:02:58,600 --> 00:03:01,560 Speaker 1: be getting sick, more freequent than the other girls had. 55 00:03:02,240 --> 00:03:04,840 Speaker 1: This wasn't your first time in the rodeo. You had 56 00:03:04,960 --> 00:03:08,600 Speaker 1: three children already. Was there a moment that you remember 57 00:03:08,720 --> 00:03:11,360 Speaker 1: thinking something here is different. 58 00:03:11,919 --> 00:03:15,120 Speaker 2: I remember the first time that Phoebe got sick. She 59 00:03:15,240 --> 00:03:18,600 Speaker 2: was six months old and she had pneumonia. Have photos 60 00:03:18,639 --> 00:03:23,120 Speaker 2: because it was Christmas, and I remember my family members saying. 61 00:03:23,280 --> 00:03:25,040 Speaker 5: She looks really sick, Sarah. 62 00:03:25,160 --> 00:03:27,880 Speaker 2: As it turned out, it was kind of the first 63 00:03:28,080 --> 00:03:32,079 Speaker 2: in a series of her getting sick or having there 64 00:03:32,120 --> 00:03:35,920 Speaker 2: be an issue, getting better and thinking, Okay, that was 65 00:03:36,000 --> 00:03:37,840 Speaker 2: just a fluke, that's not going to happen again. 66 00:03:38,440 --> 00:03:42,320 Speaker 1: As Phoebe grew, signs that something was wrong continued to 67 00:03:42,360 --> 00:03:42,880 Speaker 1: pop up. 68 00:03:43,320 --> 00:03:46,520 Speaker 2: The Next time she was really sick, she was about 69 00:03:46,560 --> 00:03:51,560 Speaker 2: two and a half and she just was not getting better. 70 00:03:51,760 --> 00:03:53,640 Speaker 2: I'd brought her in several times. They gave her an 71 00:03:53,680 --> 00:03:57,080 Speaker 2: antibatic and maybe she was a little better, but not great. 72 00:03:57,120 --> 00:04:00,440 Speaker 2: And then they did a steroid run and that still 73 00:04:00,440 --> 00:04:03,000 Speaker 2: didn't get things better, and so I ended up bringing 74 00:04:03,000 --> 00:04:05,560 Speaker 2: her into the er because she was having trouble breathing 75 00:04:05,600 --> 00:04:10,120 Speaker 2: one night and they admitted her, which I was I 76 00:04:10,160 --> 00:04:14,240 Speaker 2: remember being surprised about. They wanted to do a CT 77 00:04:14,600 --> 00:04:19,680 Speaker 2: of her sinuses and I just thought that's ridiculous. She 78 00:04:19,760 --> 00:04:22,200 Speaker 2: didn't really have a runny nose. It seemed more like 79 00:04:22,240 --> 00:04:25,680 Speaker 2: a cough that was bothering her. And as it turned out, 80 00:04:26,000 --> 00:04:30,400 Speaker 2: the doctor the eant that read the report from the radiologist, 81 00:04:30,480 --> 00:04:33,040 Speaker 2: he said, this is the worst sinus infection he's ever 82 00:04:33,080 --> 00:04:36,159 Speaker 2: seen in a two year old. She was put on 83 00:04:36,200 --> 00:04:38,760 Speaker 2: an antibiotic that I later learned two year olds are 84 00:04:38,760 --> 00:04:41,280 Speaker 2: not put on, but she was on it for eight weeks. 85 00:04:42,120 --> 00:04:45,880 Speaker 1: Sarah brought Phoebe home, hoping this antibiotic would fix things. 86 00:04:46,200 --> 00:04:50,960 Speaker 1: But after eight weeks on potent antibiotics, new symptoms manifest. 87 00:04:51,600 --> 00:04:55,000 Speaker 1: Phoebe begins to show signs of gas, true intestinal issues 88 00:04:55,040 --> 00:04:58,839 Speaker 1: so severe that Sarah rushes her back to the hospital. 89 00:05:00,040 --> 00:05:01,200 Speaker 5: They ended up admitting her. 90 00:05:01,440 --> 00:05:05,320 Speaker 2: And what I realized in that hospitalization is that they 91 00:05:05,320 --> 00:05:10,119 Speaker 2: didn't actually believe me. They were basically testing to see 92 00:05:10,160 --> 00:05:12,760 Speaker 2: if I was lying, if I was making it up, 93 00:05:12,880 --> 00:05:14,000 Speaker 2: if I was exaggerating. 94 00:05:14,760 --> 00:05:17,919 Speaker 1: What did they think that it was Munchausen by proxy. 95 00:05:18,080 --> 00:05:21,520 Speaker 1: Munchausen by proxy is a mental health condition in which 96 00:05:21,640 --> 00:05:26,040 Speaker 1: a caregiver fabricates or induces illness in their dependent to 97 00:05:26,080 --> 00:05:29,960 Speaker 1: gain attention or sympathy. The condition can also be known 98 00:05:30,080 --> 00:05:36,360 Speaker 1: as factitious disorder imposed on another or FDIA. They never 99 00:05:36,480 --> 00:05:36,920 Speaker 1: said that. 100 00:05:37,279 --> 00:05:40,479 Speaker 2: I assume that's what they thought, because this doctor I 101 00:05:40,560 --> 00:05:44,000 Speaker 2: remember him coming in and him just being he was 102 00:05:44,040 --> 00:05:47,160 Speaker 2: just very doubtful of what I was saying. And then 103 00:05:47,160 --> 00:05:50,120 Speaker 2: they confirmed, like, oh, yeah, she does have some of 104 00:05:50,160 --> 00:05:53,920 Speaker 2: the gastritis from the antabatic and so they discontinued it. 105 00:05:54,720 --> 00:05:56,640 Speaker 2: And I said, well, what are we going to do? 106 00:05:56,720 --> 00:05:59,120 Speaker 2: What's the other option? And they didn't actually put her 107 00:05:59,160 --> 00:06:01,960 Speaker 2: on anything more. And I said, but we were just 108 00:06:02,040 --> 00:06:04,279 Speaker 2: here at the same hospital and they said, this is 109 00:06:04,320 --> 00:06:07,039 Speaker 2: the worst infection they've ever seen, and we're just she's 110 00:06:07,080 --> 00:06:10,560 Speaker 2: going off of it. They basically said, yes, they did 111 00:06:10,600 --> 00:06:12,640 Speaker 2: not send her home with any antabatic. 112 00:06:13,360 --> 00:06:19,560 Speaker 1: So how were the doctors explaining these early health struggles. 113 00:06:20,200 --> 00:06:21,640 Speaker 5: They really weren't. 114 00:06:21,960 --> 00:06:24,000 Speaker 2: We went and saw one of the doctors in this 115 00:06:24,120 --> 00:06:28,400 Speaker 2: practice that I had seen, you know, years prior, and 116 00:06:29,120 --> 00:06:33,120 Speaker 2: she was an immunologist and she did some pretty extensive 117 00:06:33,760 --> 00:06:37,080 Speaker 2: immune system testing and she basically came to the conclusion 118 00:06:37,200 --> 00:06:39,800 Speaker 2: that Phoebe's immune system was dysregulated. 119 00:06:39,920 --> 00:06:40,920 Speaker 5: It was kind of. 120 00:06:40,920 --> 00:06:46,760 Speaker 2: Hyperreactive, and she had some low immuno globulins, but nothing 121 00:06:46,880 --> 00:06:52,039 Speaker 2: that fitted diagnosis that she could have regular treatment for. 122 00:06:52,560 --> 00:06:54,960 Speaker 2: And so they put her on kind of a prophylactic 123 00:06:55,000 --> 00:06:58,920 Speaker 2: antabatic that kept her from getting infections. She didn't really 124 00:06:58,960 --> 00:07:03,479 Speaker 2: have a real specific diagnosis other than frequent infections, and 125 00:07:03,520 --> 00:07:07,039 Speaker 2: she really, for the most part, infection wise, was pretty good. 126 00:07:08,360 --> 00:07:12,120 Speaker 1: By around four years old, Phoebe began to recognize herself 127 00:07:12,200 --> 00:07:16,760 Speaker 1: that something was definitely not quite right. When is the 128 00:07:16,920 --> 00:07:22,200 Speaker 1: first time that you remember your earliest memories of dealing 129 00:07:22,280 --> 00:07:23,160 Speaker 1: with health issues. 130 00:07:23,760 --> 00:07:27,960 Speaker 3: My first memory of pain was my ankle pain. That 131 00:07:28,160 --> 00:07:30,760 Speaker 3: was horrible. No one could tell me why that was happening, 132 00:07:31,720 --> 00:07:34,920 Speaker 3: and it disrupted my sleep a lot. 133 00:07:35,120 --> 00:07:36,040 Speaker 1: That was really bad. 134 00:07:36,320 --> 00:07:39,120 Speaker 2: The ankle pain actually started around the time of her 135 00:07:39,280 --> 00:07:43,000 Speaker 2: sinus infection, and that ankle pain was persistent really for years. 136 00:07:43,680 --> 00:07:45,520 Speaker 1: What kind of pain are we talking about? Was it 137 00:07:45,640 --> 00:07:49,840 Speaker 1: just a soreness, an ache. 138 00:07:49,360 --> 00:07:52,320 Speaker 3: Just kind of like a dull pain, That's the best 139 00:07:52,360 --> 00:07:55,000 Speaker 3: way I can explain it. And it got worse with 140 00:07:55,120 --> 00:07:58,440 Speaker 3: like something over it. I could walk perfectly fine. It 141 00:07:58,480 --> 00:08:00,200 Speaker 3: wasn't a problem with the bone. 142 00:08:00,560 --> 00:08:04,080 Speaker 1: How did that impact you in terms of school and 143 00:08:04,120 --> 00:08:05,480 Speaker 1: sports and things like that. 144 00:08:06,440 --> 00:08:10,040 Speaker 3: Honestly, like I just kind of powered through as much 145 00:08:10,040 --> 00:08:12,840 Speaker 3: as I could. No one could do anything. No medication helped. 146 00:08:13,480 --> 00:08:15,640 Speaker 3: I mean, my pain talent was pretty high by the 147 00:08:15,760 --> 00:08:18,960 Speaker 3: end of it, so it only really really disrupted my sleep. 148 00:08:19,000 --> 00:08:22,760 Speaker 1: I remember that, barely five years old, Phoebe was already 149 00:08:22,840 --> 00:08:27,160 Speaker 1: learning to live with chronic pain and discomfort. Next, her 150 00:08:27,280 --> 00:08:28,520 Speaker 1: vision starts to fail. 151 00:08:28,880 --> 00:08:30,920 Speaker 3: That was hard as a kindergartener with like an eye 152 00:08:30,920 --> 00:08:32,000 Speaker 3: patch walking around. 153 00:08:32,280 --> 00:08:35,000 Speaker 2: She was complaining of black spots in her field of vision, 154 00:08:36,200 --> 00:08:39,400 Speaker 2: and I myself, like, sometimes see black spots if you 155 00:08:39,760 --> 00:08:42,839 Speaker 2: stand up too fast, or you know, blood pressure kind 156 00:08:42,840 --> 00:08:45,280 Speaker 2: of changes. But then the doctor looked in her eyes. 157 00:08:45,360 --> 00:08:48,040 Speaker 2: He goes, you know, I think I see something, and 158 00:08:48,080 --> 00:08:50,480 Speaker 2: I'm going to send you to a retinal specialist tomorrow, 159 00:08:51,320 --> 00:08:54,560 Speaker 2: and then she was diagnosed with retinal vasculitis, where fluid 160 00:08:54,600 --> 00:08:56,640 Speaker 2: was leaking out of the vessels in the back of 161 00:08:56,679 --> 00:08:59,360 Speaker 2: her eye. They didn't know why it was happening. 162 00:08:59,720 --> 00:09:02,200 Speaker 3: You know, at that age specifically, you see doctors as 163 00:09:02,240 --> 00:09:05,400 Speaker 3: like literally your heroes. They're supposed to know everything. They 164 00:09:05,400 --> 00:09:08,520 Speaker 3: are the smartest of the smartest. So when people were like, oh, 165 00:09:08,559 --> 00:09:11,240 Speaker 3: I don't know, I was like, what do you mean 166 00:09:11,280 --> 00:09:14,200 Speaker 3: you don't know? I became a parent very young that 167 00:09:14,480 --> 00:09:17,080 Speaker 3: I was not a cookie cutter. 168 00:09:17,000 --> 00:09:21,080 Speaker 1: Case in and out of doctor's offices, Juggling a growing 169 00:09:21,160 --> 00:09:26,479 Speaker 1: list of strange and seemingly disconnected symptoms, Sarah was increasingly 170 00:09:26,520 --> 00:09:30,319 Speaker 1: on edge, waiting for the next shoe to drop. She 171 00:09:30,400 --> 00:09:33,200 Speaker 1: remembers the day it hit the floor vividly. 172 00:09:34,520 --> 00:09:36,920 Speaker 2: It was a Saturday, it was in the fall, and 173 00:09:36,960 --> 00:09:39,600 Speaker 2: it was a beautiful day. She had been playing outside 174 00:09:39,600 --> 00:09:42,640 Speaker 2: with the neighbor kids. And I remember thinking that day 175 00:09:42,720 --> 00:09:46,240 Speaker 2: that this was the first normal day she had had 176 00:09:46,240 --> 00:09:48,800 Speaker 2: in a while. She really seemed to feel good, and 177 00:09:48,880 --> 00:09:51,240 Speaker 2: I just remember relishing like what a good day it was. 178 00:09:51,960 --> 00:09:55,600 Speaker 2: And then that night she said that her tummy hurt, 179 00:09:56,440 --> 00:09:59,760 Speaker 2: and you know, six year old tummy, all the kind 180 00:09:59,800 --> 00:10:02,680 Speaker 2: of normal mom things that you'd say, have you gone 181 00:10:02,720 --> 00:10:04,960 Speaker 2: to the bathroom? Do you want me to rub your tummy? 182 00:10:05,559 --> 00:10:06,480 Speaker 2: What a heating pad? 183 00:10:06,640 --> 00:10:06,960 Speaker 1: Help? 184 00:10:07,760 --> 00:10:12,839 Speaker 2: And very quickly her pain really ramped up. Within an hour, 185 00:10:13,080 --> 00:10:17,760 Speaker 2: she was laying on my floor just screaming and crying. 186 00:10:18,480 --> 00:10:21,560 Speaker 2: And in my mind, I'm like, we just got back 187 00:10:21,559 --> 00:10:24,960 Speaker 2: from the hospital. We can't go back. But because I 188 00:10:24,960 --> 00:10:27,480 Speaker 2: couldn't think of anything else to do, we went to 189 00:10:27,520 --> 00:10:32,000 Speaker 2: the hospital. I drove her in the car and she 190 00:10:32,400 --> 00:10:37,239 Speaker 2: was not in her seatbelt, literally like contorting and writhing 191 00:10:37,520 --> 00:10:41,000 Speaker 2: and she just clearly you could not get comfortable. 192 00:10:41,480 --> 00:10:44,040 Speaker 3: I was in so much pain, and I remember saying, 193 00:10:44,080 --> 00:10:45,400 Speaker 3: I feel like I'm going to die. 194 00:10:46,080 --> 00:10:49,160 Speaker 2: She thought she was going to die. She said, thank you, 195 00:10:49,240 --> 00:10:50,440 Speaker 2: mom for taking care of me. 196 00:10:51,440 --> 00:10:55,600 Speaker 3: And like, no six year old knows that vocap like 197 00:10:56,440 --> 00:10:58,760 Speaker 3: I work with kids, No kid knows the concept of 198 00:10:58,840 --> 00:11:01,680 Speaker 3: dying is not in there like Pisa, and it wasn't 199 00:11:01,679 --> 00:11:02,080 Speaker 3: in mind. 200 00:11:02,320 --> 00:11:03,559 Speaker 1: I remember my mom. 201 00:11:03,840 --> 00:11:05,800 Speaker 3: She would like, keep stopping at red lights. I'm like, 202 00:11:05,840 --> 00:11:08,640 Speaker 3: I don't know why we're stopping at red lights. 203 00:11:09,080 --> 00:11:12,520 Speaker 2: I just tried to stay calm and I said, I'm 204 00:11:12,559 --> 00:11:14,880 Speaker 2: going as fast as I can we'll get there soon. 205 00:11:15,679 --> 00:11:17,959 Speaker 2: We walked in and she was screaming. 206 00:11:18,160 --> 00:11:19,840 Speaker 3: I just kept screaming as a lot as I was 207 00:11:19,880 --> 00:11:20,320 Speaker 3: in the car. 208 00:11:20,559 --> 00:11:22,760 Speaker 2: I don't even know that they asked us our name, 209 00:11:22,840 --> 00:11:26,480 Speaker 2: and we just went back and they immediately gave her 210 00:11:26,520 --> 00:11:29,520 Speaker 2: fentanyl and then they gave her delauded and then try 211 00:11:29,559 --> 00:11:30,880 Speaker 2: to figure out what was wrong. 212 00:11:31,760 --> 00:11:36,400 Speaker 1: I know, as a mother, there is this exquisite hell 213 00:11:37,000 --> 00:11:41,320 Speaker 1: of acting like everything's okay when you're afraid that it's not. 214 00:11:42,160 --> 00:11:47,560 Speaker 2: Oh yeah, all the time, all the time, and you know, 215 00:11:47,720 --> 00:11:50,800 Speaker 2: trying not to cry and lose it myself as my 216 00:11:51,280 --> 00:11:54,800 Speaker 2: six year old is crying and screaming, trying to reassure 217 00:11:54,840 --> 00:11:57,880 Speaker 2: her that she was going to be okay, when I 218 00:11:57,920 --> 00:12:01,079 Speaker 2: had no idea if really she was going to be okay. 219 00:12:01,880 --> 00:12:04,959 Speaker 1: And once you get in to see doctors, they run 220 00:12:05,000 --> 00:12:08,960 Speaker 1: another set of tests. What did those tests show? 221 00:12:09,520 --> 00:12:09,679 Speaker 4: Her? 222 00:12:09,720 --> 00:12:14,000 Speaker 2: Liver enzymes were sky high, a normal range of somewhere 223 00:12:14,040 --> 00:12:17,560 Speaker 2: around let's say thirty or forty. Hers were in the thousands. 224 00:12:18,559 --> 00:12:22,920 Speaker 2: And they started asking me, has she had access to 225 00:12:22,960 --> 00:12:25,160 Speaker 2: tailan all? Did she overdose and tilan all? 226 00:12:25,360 --> 00:12:25,560 Speaker 1: You know? 227 00:12:25,640 --> 00:12:29,240 Speaker 2: And so then I'm racking my brain. Did she I 228 00:12:29,280 --> 00:12:30,800 Speaker 2: don't think she swallowed Thailand all. 229 00:12:31,480 --> 00:12:34,080 Speaker 1: Did you get any conclusive answers that day? 230 00:12:35,160 --> 00:12:38,920 Speaker 2: No, they did admit her because her liver enzymes were 231 00:12:38,960 --> 00:12:41,679 Speaker 2: so high and her pain was so high. She stayed 232 00:12:41,720 --> 00:12:44,920 Speaker 2: in the hospital maybe three days, and it resolved on 233 00:12:44,960 --> 00:12:48,200 Speaker 2: its own. It left nearly as quickly as it came on, 234 00:12:48,760 --> 00:12:50,920 Speaker 2: and people just kind of shrug like, we don't know 235 00:12:50,960 --> 00:12:51,480 Speaker 2: what that was. 236 00:12:52,520 --> 00:12:55,600 Speaker 1: Phoebe and Sarah lead the hospital after what feels like 237 00:12:55,640 --> 00:13:00,160 Speaker 1: a near death experience with no clear direction or understand 238 00:13:00,360 --> 00:13:05,080 Speaker 1: of what has happened. Again, a few months past and Phoebe, 239 00:13:05,360 --> 00:13:08,800 Speaker 1: now seven years old, starts to indicate to Sarah that 240 00:13:08,880 --> 00:13:09,960 Speaker 1: her stomach was hurting. 241 00:13:11,600 --> 00:13:16,440 Speaker 2: It was unremitting, but it wasn't so severe that she was, 242 00:13:16,840 --> 00:13:19,199 Speaker 2: you know, screaming, but she complained. 243 00:13:18,840 --> 00:13:19,560 Speaker 1: About it daily. 244 00:13:20,280 --> 00:13:24,520 Speaker 2: They did blood tests, they did an ultrasound CT scan, 245 00:13:25,280 --> 00:13:29,040 Speaker 2: MRI hid to scand look at the gallbladder and everything 246 00:13:29,080 --> 00:13:33,160 Speaker 2: was negative. But she really had this unremitting pain for 247 00:13:33,360 --> 00:13:37,160 Speaker 2: it was about eight weeks and finally it was recommended 248 00:13:37,200 --> 00:13:39,440 Speaker 2: to consult with a surgeon because they said, well, it 249 00:13:39,440 --> 00:13:45,600 Speaker 2: could be this atypical appendicitis where laps come back normal. 250 00:13:45,760 --> 00:13:48,280 Speaker 2: But once you go in there they see kind of 251 00:13:48,360 --> 00:13:49,560 Speaker 2: an inflamed appendix. 252 00:13:50,280 --> 00:13:51,040 Speaker 1: What did they find? 253 00:13:52,000 --> 00:13:54,400 Speaker 2: They found that her appendix look great. They still took 254 00:13:54,440 --> 00:13:59,480 Speaker 2: it out, but they found adhesions, so scar tissue that 255 00:14:00,080 --> 00:14:03,760 Speaker 2: it was actually pretty extensive on the right side of 256 00:14:03,760 --> 00:14:07,640 Speaker 2: her abdominal cavity, but in particular scar tissue that was 257 00:14:07,720 --> 00:14:11,880 Speaker 2: connecting her secum, which is I believe a part of 258 00:14:11,920 --> 00:14:15,439 Speaker 2: the large intestine to another part of the large intestine, 259 00:14:15,480 --> 00:14:19,080 Speaker 2: and so it was pulling and her surgeon, I remember, 260 00:14:19,120 --> 00:14:21,560 Speaker 2: he came out kind of looking perplexed. He's like, well, 261 00:14:22,240 --> 00:14:25,800 Speaker 2: this is what I saw and weced them, meaning that 262 00:14:25,880 --> 00:14:29,760 Speaker 2: they released that scar tissue, and he's like, I don't 263 00:14:29,800 --> 00:14:31,840 Speaker 2: know why they were there. He said, it looks kind 264 00:14:31,840 --> 00:14:34,800 Speaker 2: of inflammatory to me, but there's no reason that those 265 00:14:34,800 --> 00:14:38,480 Speaker 2: should be happening, and we'll just see how she feels after. 266 00:14:38,600 --> 00:14:41,280 Speaker 2: And she woke up and she had no more abdominal pain. 267 00:14:42,160 --> 00:14:44,800 Speaker 2: It essentially cured. It cured her pain. 268 00:14:45,440 --> 00:14:49,160 Speaker 1: But this cure did not last for long. Six months later, 269 00:14:49,240 --> 00:14:53,920 Speaker 1: phoebe presented with the same pain again and doctors recommended 270 00:14:54,040 --> 00:14:59,400 Speaker 1: another adhesion surgery. What were you thinking when the conversation 271 00:14:59,440 --> 00:15:01,520 Speaker 1: about another operation came up? 272 00:15:01,960 --> 00:15:04,920 Speaker 2: You know, I really hesitated do we go in again? 273 00:15:05,320 --> 00:15:09,560 Speaker 2: Is this could this be again this issue? Because there 274 00:15:09,640 --> 00:15:12,200 Speaker 2: was no test for these the scar tissue, you can't 275 00:15:12,200 --> 00:15:16,360 Speaker 2: see it on any scan. And I'm like, what if 276 00:15:16,360 --> 00:15:19,320 Speaker 2: her pain is there and there's nothing to see. 277 00:15:19,520 --> 00:15:23,960 Speaker 1: So she goes back into surgery. What happened next? 278 00:15:24,400 --> 00:15:26,560 Speaker 2: He came out and he said, well, they're there again, 279 00:15:26,600 --> 00:15:29,480 Speaker 2: and they're in the exact same place where they had 280 00:15:29,480 --> 00:15:30,520 Speaker 2: been six months earlier. 281 00:15:30,920 --> 00:15:34,120 Speaker 3: That's based scar routine every seven months. I knew the 282 00:15:34,200 --> 00:15:36,440 Speaker 3: pain every time. Like once I started feeling it, I 283 00:15:36,480 --> 00:15:39,680 Speaker 3: was like Mom called the surgeon that like ruins my 284 00:15:39,760 --> 00:15:43,000 Speaker 3: life and I remember thinking like, no one will ever understand. 285 00:15:44,120 --> 00:15:48,400 Speaker 1: We'll be right back with Symptomatic a Medical Mystery Podcast. 286 00:15:56,600 --> 00:16:02,960 Speaker 1: Now back to Symptomatic a Medical Mystery Podcast. Since she 287 00:16:03,080 --> 00:16:05,800 Speaker 1: was a baby, Phoebe Marshall has been living with an 288 00:16:05,840 --> 00:16:09,600 Speaker 1: expanding list of health issues. Infections that escalate to the 289 00:16:09,600 --> 00:16:16,240 Speaker 1: point of hospitalization, inflammation, joint pain, even vision loss. Her mother, Sarah, 290 00:16:16,400 --> 00:16:19,760 Speaker 1: has done the best she can while facing constant dismissal 291 00:16:19,800 --> 00:16:23,880 Speaker 1: from the medical community. Now, a recurring surgery to remove 292 00:16:23,960 --> 00:16:27,960 Speaker 1: adhesions in her abdomen, required twice a year, would become 293 00:16:28,160 --> 00:16:28,960 Speaker 1: Phoebe's life. 294 00:16:29,800 --> 00:16:32,040 Speaker 3: I mean, it was hard to get surgery every seven 295 00:16:32,080 --> 00:16:36,120 Speaker 3: to eight months. I was carrying around medication in a 296 00:16:36,160 --> 00:16:39,160 Speaker 3: back at a pit line. I'd always had stuff hanging 297 00:16:39,200 --> 00:16:41,240 Speaker 3: for me. There's always a reminder. 298 00:16:41,800 --> 00:16:45,520 Speaker 1: So what started as exploratory surgery became maintenance. 299 00:16:46,600 --> 00:16:51,200 Speaker 2: Yeah, and maintenance for a condition that's not life threatening. 300 00:16:51,240 --> 00:16:56,800 Speaker 2: She didn't really have a real specific diagnosis, so honestly, 301 00:16:57,680 --> 00:17:00,400 Speaker 2: no one was particularly concerned about it because it doesn't 302 00:17:00,400 --> 00:17:04,679 Speaker 2: threaten her life. Really, I was the only person that 303 00:17:04,920 --> 00:17:08,400 Speaker 2: was interested in finding a way to never make them 304 00:17:08,440 --> 00:17:09,080 Speaker 2: happen again. 305 00:17:11,880 --> 00:17:16,520 Speaker 1: As a mom, how do you balance prioritizing finding answers 306 00:17:16,560 --> 00:17:20,800 Speaker 1: and dealing with these symptoms as they keep calming with 307 00:17:21,520 --> 00:17:24,520 Speaker 1: out letting it take over Phoebe's identity. 308 00:17:25,160 --> 00:17:29,000 Speaker 2: I don't think I let on to many people how 309 00:17:29,080 --> 00:17:33,520 Speaker 2: much I thought about what happens, when the next thing happens, 310 00:17:33,520 --> 00:17:36,800 Speaker 2: what will the next thing be? And so I did 311 00:17:36,800 --> 00:17:41,240 Speaker 2: a lot of nighttime scrolling of the Internet looking for symptoms, 312 00:17:41,359 --> 00:17:46,080 Speaker 2: matching them to diagnoses, looking for people, for researchers, for 313 00:17:46,200 --> 00:17:49,879 Speaker 2: doctors across the United States that might have answers that 314 00:17:50,000 --> 00:17:53,439 Speaker 2: experts where we live didn't have. But I also think 315 00:17:54,520 --> 00:17:57,640 Speaker 2: getting her involved in therapy early on was helpful. 316 00:17:59,160 --> 00:18:03,440 Speaker 4: My name is doctor Jade Rafferty. I am a pediatric psychologist. 317 00:18:04,040 --> 00:18:06,800 Speaker 4: The pediatric part means that I specialize in kids with 318 00:18:07,000 --> 00:18:08,080 Speaker 4: medical conditions. 319 00:18:08,800 --> 00:18:12,960 Speaker 1: Doctor Jade Rafferty is Phoebe's psychologist. Tell me a little 320 00:18:13,000 --> 00:18:15,840 Speaker 1: bit about your first memory of meeting Phoebe. 321 00:18:16,040 --> 00:18:18,480 Speaker 5: So I met her when I was working in pain clinic. 322 00:18:18,760 --> 00:18:22,280 Speaker 4: She was eight, so I've known her for a long time, 323 00:18:22,720 --> 00:18:26,680 Speaker 4: but I don't remember her as much as I remember Sarah. 324 00:18:26,920 --> 00:18:27,960 Speaker 5: She kept sending. 325 00:18:27,680 --> 00:18:31,840 Speaker 4: Messages and she kept attaching these articles that I got. 326 00:18:31,880 --> 00:18:35,040 Speaker 5: To be honest, I had no idea what they meant. 327 00:18:35,119 --> 00:18:39,560 Speaker 4: They were such complex scientific articles that I was like, yeah, 328 00:18:39,840 --> 00:18:40,760 Speaker 4: I don't. 329 00:18:40,520 --> 00:18:41,320 Speaker 5: Know what this means. 330 00:18:43,680 --> 00:18:46,360 Speaker 4: And unfortunately, and I think it is important to share this, 331 00:18:46,520 --> 00:18:49,840 Speaker 4: Like I am ashamed that I did contribute to some 332 00:18:49,920 --> 00:18:54,159 Speaker 4: of that skepticism or had that skepticism when I first 333 00:18:54,600 --> 00:18:58,240 Speaker 4: met them, you know, like what is really going on here? 334 00:18:58,400 --> 00:19:01,880 Speaker 4: I didn't fully understand at that point in my career 335 00:19:02,560 --> 00:19:06,800 Speaker 4: how complex a brain and body can be. And Phoebe 336 00:19:06,880 --> 00:19:09,600 Speaker 4: at that time was a closed book. You could not 337 00:19:09,840 --> 00:19:12,399 Speaker 4: get her to say a whole lot of anything. 338 00:19:13,000 --> 00:19:14,359 Speaker 5: So I did. 339 00:19:14,280 --> 00:19:16,359 Speaker 4: Spend a lot of time sitting there trying to ask 340 00:19:16,400 --> 00:19:17,119 Speaker 4: her questions. 341 00:19:18,600 --> 00:19:20,080 Speaker 1: Sarah remembers this too. 342 00:19:21,000 --> 00:19:23,399 Speaker 2: She kind of saw Jade as this nosy person that 343 00:19:23,480 --> 00:19:26,360 Speaker 2: was asking her all these personal questions, and I'm like, well, 344 00:19:26,359 --> 00:19:28,800 Speaker 2: you know, you can tell her whatever you want to 345 00:19:28,840 --> 00:19:31,200 Speaker 2: tell her, like that's what she's there for. And there 346 00:19:31,280 --> 00:19:33,600 Speaker 2: was this light that went I'm like, oh, I didn't 347 00:19:33,640 --> 00:19:35,639 Speaker 2: know I could like talk to her about things. 348 00:19:40,240 --> 00:19:43,679 Speaker 1: What has been the most difficult part for you of 349 00:19:44,240 --> 00:19:50,480 Speaker 1: growing up with these ever changing, evolving symptoms. I think 350 00:19:50,520 --> 00:19:51,440 Speaker 1: a lot of people. 351 00:19:52,920 --> 00:19:58,040 Speaker 3: Already struggle with trusting other people, but my medical stuff 352 00:19:58,680 --> 00:20:01,720 Speaker 3: goes outside of the doctor. I have a really hard 353 00:20:01,760 --> 00:20:04,920 Speaker 3: time trusting other people, like my friends. I don't open 354 00:20:05,000 --> 00:20:05,960 Speaker 3: up to my friends a lot. 355 00:20:06,240 --> 00:20:06,920 Speaker 1: They know I have. 356 00:20:06,920 --> 00:20:10,920 Speaker 3: Medical stuff, they know I struggle, but I've been taught 357 00:20:10,960 --> 00:20:12,719 Speaker 3: over and over that no one wants to hear it. 358 00:20:16,320 --> 00:20:20,200 Speaker 3: I think also, my story is so complex, it's really hard. 359 00:20:20,240 --> 00:20:22,119 Speaker 3: Even to this day, it's really hard to explain to 360 00:20:22,160 --> 00:20:25,000 Speaker 3: my friends. I remember one time I was in the hospital. 361 00:20:25,960 --> 00:20:28,200 Speaker 3: It was just after one of my surgeries. I get 362 00:20:28,240 --> 00:20:32,760 Speaker 3: really weak after my surgeries, and I remember my neuralogist 363 00:20:32,840 --> 00:20:36,359 Speaker 3: ended up coming in to do I'm gonna get it 364 00:20:36,359 --> 00:20:39,840 Speaker 3: wrong and EMG something where like you poke the muscles 365 00:20:39,880 --> 00:20:42,399 Speaker 3: and you see how tired they get. But he was like, 366 00:20:42,480 --> 00:20:45,680 Speaker 3: let's just do one now after surgery to see and 367 00:20:45,720 --> 00:20:46,560 Speaker 3: the EMG. 368 00:20:46,440 --> 00:20:47,119 Speaker 2: Came back normal. 369 00:20:47,480 --> 00:20:51,480 Speaker 3: There was nothing really shown there, and I don't think 370 00:20:51,520 --> 00:20:53,400 Speaker 3: he was like, oh, that means they're faking it, but 371 00:20:53,480 --> 00:20:58,680 Speaker 3: like the look of confusion on his face, like I 372 00:20:58,720 --> 00:21:02,120 Speaker 3: wanted so badly just to tell them, like I promise 373 00:21:02,200 --> 00:21:04,280 Speaker 3: you on everything I love, this is real. 374 00:21:04,920 --> 00:21:07,639 Speaker 1: I know. Phoebe spoken about how she felt dismissed. 375 00:21:08,359 --> 00:21:11,520 Speaker 2: Mm hmm, we all did we all? 376 00:21:11,560 --> 00:21:12,560 Speaker 1: Did you know? 377 00:21:13,680 --> 00:21:18,720 Speaker 2: It was very, very difficult, And I think I saw 378 00:21:18,760 --> 00:21:23,399 Speaker 2: the doubt from doctors and like what I intuited was 379 00:21:24,400 --> 00:21:29,640 Speaker 2: that they felt like this family needs help and they 380 00:21:29,680 --> 00:21:31,119 Speaker 2: need some mental health support. 381 00:21:32,640 --> 00:21:35,960 Speaker 1: Though Phoebe's physical symptoms went far beyond the boundaries of 382 00:21:36,000 --> 00:21:39,479 Speaker 1: mental health and should not have been minimized, doctor Jade 383 00:21:39,600 --> 00:21:43,240 Speaker 1: recognizes the emotional impact of what their family was going through. 384 00:21:43,640 --> 00:21:45,800 Speaker 5: Well, it impacts the entire family system. 385 00:21:46,200 --> 00:21:48,879 Speaker 4: We're not taught how to be parents, let alone parents 386 00:21:48,880 --> 00:21:50,480 Speaker 4: of children with chronic illness. 387 00:21:51,280 --> 00:21:52,720 Speaker 5: How do we help kids. 388 00:21:52,440 --> 00:21:56,720 Speaker 4: Be independent even if we're having to give them IVS right, 389 00:21:56,880 --> 00:21:59,080 Speaker 4: or how do we help kids go back to school 390 00:21:59,160 --> 00:22:02,520 Speaker 4: even if they're a new system is compromised. For me, 391 00:22:02,600 --> 00:22:06,639 Speaker 4: I see it all as health and I wish and 392 00:22:06,760 --> 00:22:10,439 Speaker 4: dream that all kids could get mental health care. But 393 00:22:10,520 --> 00:22:13,639 Speaker 4: then when you add on all of the levels of 394 00:22:13,720 --> 00:22:18,360 Speaker 4: chronic illness, it impacts and changes how children and their 395 00:22:18,359 --> 00:22:22,120 Speaker 4: families develop, and that I think is really a key 396 00:22:22,720 --> 00:22:24,760 Speaker 4: component of some of the work that I do. 397 00:22:26,400 --> 00:22:30,240 Speaker 1: Now ten years old, Phoebe has undergone an adhesion surgery 398 00:22:30,359 --> 00:22:32,880 Speaker 1: every six to eight months for the last four years. 399 00:22:33,320 --> 00:22:37,440 Speaker 1: These surgeries are invasive, painful, and leave her with extended 400 00:22:37,440 --> 00:22:41,400 Speaker 1: post operative weakness, unable to roll over or even hold 401 00:22:41,480 --> 00:22:44,480 Speaker 1: up her head. Phoebe missed months of school every year 402 00:22:44,480 --> 00:22:48,240 Speaker 1: as a result. Sarah was unable to accept this as 403 00:22:48,240 --> 00:22:49,720 Speaker 1: her daughter's continued fate. 404 00:22:50,480 --> 00:22:57,600 Speaker 2: I was probably the only person whose quest it was 405 00:22:58,000 --> 00:23:01,760 Speaker 2: to find a way to not do these surgeries anymore, 406 00:23:01,960 --> 00:23:05,160 Speaker 2: because it did impact her quality of life. Who wants 407 00:23:05,200 --> 00:23:08,240 Speaker 2: to go into surgery once or twice a year and 408 00:23:08,280 --> 00:23:10,480 Speaker 2: then be in the hospital for a week. I didn't 409 00:23:10,520 --> 00:23:13,560 Speaker 2: want that for her for so many reasons. She was 410 00:23:13,600 --> 00:23:19,520 Speaker 2: still having symptoms that weren't in just one organ system. 411 00:23:19,600 --> 00:23:23,399 Speaker 2: They were across multiple organ systems, and so many of 412 00:23:23,440 --> 00:23:27,119 Speaker 2: her individual diagnoses were rare in and of themselves, And 413 00:23:27,160 --> 00:23:31,680 Speaker 2: it's like, how can one person have so many things 414 00:23:31,720 --> 00:23:37,520 Speaker 2: that are otherwise rare in one short life experience? I 415 00:23:37,600 --> 00:23:38,840 Speaker 2: was desperate for answers. 416 00:23:39,560 --> 00:23:43,399 Speaker 1: In twenty seventeen, after years of pounding the pavement in 417 00:23:43,440 --> 00:23:47,040 Speaker 1: search of answers to their many questions, Sarah came across 418 00:23:47,080 --> 00:23:49,719 Speaker 1: the Undiagnosed Diseases Network. 419 00:23:50,160 --> 00:23:53,800 Speaker 2: I found another parent who lived in Wisconsin at the time, 420 00:23:54,400 --> 00:23:57,719 Speaker 2: and she and her children had just been seen at 421 00:23:57,720 --> 00:24:01,280 Speaker 2: the UDN. And when she told me about the ud 422 00:24:01,400 --> 00:24:05,040 Speaker 2: AND I had never heard of it before, and I thought, 423 00:24:05,119 --> 00:24:07,959 Speaker 2: we have to go. This is where we'll find answers. 424 00:24:08,400 --> 00:24:11,480 Speaker 1: Can you tell me about your first experience with them? 425 00:24:12,200 --> 00:24:15,000 Speaker 2: So I called the number on their website and a 426 00:24:15,080 --> 00:24:20,679 Speaker 2: man named Paul answered the phone, and he was wonderful. 427 00:24:20,880 --> 00:24:23,439 Speaker 2: I spoke to him for about an hour. He listened 428 00:24:23,440 --> 00:24:28,920 Speaker 2: to my story, he answered my questions, and really it 429 00:24:29,040 --> 00:24:31,520 Speaker 2: was maybe the first time in talking to a complete 430 00:24:31,560 --> 00:24:39,040 Speaker 2: stranger that was curious and interested and validated that we 431 00:24:39,040 --> 00:24:43,119 Speaker 2: weren't crazy, that there was hope. He described this program 432 00:24:43,240 --> 00:24:47,080 Speaker 2: that offered both the clinical and the research component. You know, 433 00:24:47,240 --> 00:24:50,159 Speaker 2: I had my heart set on making sure that we 434 00:24:50,240 --> 00:24:51,760 Speaker 2: made it into the study. 435 00:24:51,800 --> 00:24:55,800 Speaker 1: And because of Sarah's diligent advocacy, they did. Phoebe and 436 00:24:55,840 --> 00:24:59,119 Speaker 1: her family then traveled to the nearest Utian research site 437 00:24:59,359 --> 00:25:03,040 Speaker 1: in Boston. What do you remember about your trip to Boston. 438 00:25:04,359 --> 00:25:06,080 Speaker 3: I didn't really understand much about it. 439 00:25:06,280 --> 00:25:08,520 Speaker 1: There was a pool at the hotel. I was excited 440 00:25:08,560 --> 00:25:09,160 Speaker 1: for that, but. 441 00:25:09,119 --> 00:25:11,800 Speaker 3: I remember it was a lot of appointments they had 442 00:25:11,800 --> 00:25:15,400 Speaker 3: to crampack all these specialists into one week. I fell 443 00:25:15,440 --> 00:25:18,640 Speaker 3: asleep at probably more than half of them. And it's 444 00:25:18,640 --> 00:25:21,919 Speaker 3: a new person examining me, looking at my ears, touching 445 00:25:21,920 --> 00:25:24,239 Speaker 3: my joints like so, that's a lot for an eight 446 00:25:24,320 --> 00:25:28,520 Speaker 3: year old. I remember, God, bless my mom. I would 447 00:25:28,560 --> 00:25:31,639 Speaker 3: get so irritated with her at appointments because I just 448 00:25:31,680 --> 00:25:32,359 Speaker 3: wanted to go home. 449 00:25:32,400 --> 00:25:33,240 Speaker 1: I was so tired. 450 00:25:34,359 --> 00:25:35,280 Speaker 5: Yeah, that was hard. 451 00:25:36,640 --> 00:25:39,480 Speaker 2: We went to Boston Children's they did their clinical evaluation. 452 00:25:40,119 --> 00:25:43,879 Speaker 2: They took our blood as family and said, you know, 453 00:25:43,920 --> 00:25:46,840 Speaker 2: we're going to send this off and sequence her exom 454 00:25:46,880 --> 00:25:50,840 Speaker 2: to see if we can find any genetic possibilities for 455 00:25:51,119 --> 00:25:53,760 Speaker 2: what's causing all of these symptoms of hers. And then 456 00:25:53,800 --> 00:25:54,880 Speaker 2: we waited a long time. 457 00:25:56,480 --> 00:25:59,399 Speaker 1: Months went by after their trip to Boston as the 458 00:25:59,480 --> 00:26:03,960 Speaker 1: Union continued their research. While they waited for results, Phoebe 459 00:26:04,000 --> 00:26:06,480 Speaker 1: was hit with new persistent back pain. 460 00:26:07,240 --> 00:26:10,840 Speaker 2: We saw an orthopedic spine surgeon and they said, oh, well, 461 00:26:11,280 --> 00:26:14,920 Speaker 2: she has this thing called Bertolotti syndrome and it's extra 462 00:26:15,680 --> 00:26:20,840 Speaker 2: bone in your lower spine. And the recommendation that came 463 00:26:20,880 --> 00:26:24,920 Speaker 2: back was spinal fusion. I was like, that seems kind 464 00:26:24,920 --> 00:26:30,200 Speaker 2: of extreme, but we tried physical therapy and it didn't 465 00:26:30,200 --> 00:26:34,119 Speaker 2: really do anything, and so then finally she had spinal fusion. 466 00:26:34,640 --> 00:26:38,960 Speaker 1: After this surgery, Phoebe is hit with a horrible postop infection. 467 00:26:39,560 --> 00:26:42,280 Speaker 1: She's forced to go under five more times in order 468 00:26:42,280 --> 00:26:45,040 Speaker 1: for doctors to open her up and clean out her wound. 469 00:26:45,680 --> 00:26:48,680 Speaker 1: When she finally recovers, the pain in her spine is gone, 470 00:26:48,960 --> 00:26:51,760 Speaker 1: but Sarah is even more desperate for the results from 471 00:26:51,800 --> 00:26:56,359 Speaker 1: the Udian study. Finally, after an agonizing weight the Udion 472 00:26:56,520 --> 00:26:59,720 Speaker 1: shares the results of their initial tests, but the results 473 00:26:59,720 --> 00:27:02,560 Speaker 1: are not immediately what Sarah has hoped for. 474 00:27:03,280 --> 00:27:05,959 Speaker 2: So they did xome that came back nothing, but they 475 00:27:05,960 --> 00:27:09,080 Speaker 2: couldn't tell me, and so I was frustrated, What do 476 00:27:09,119 --> 00:27:10,080 Speaker 2: you mean you can't tell me. 477 00:27:10,520 --> 00:27:14,200 Speaker 1: An exome study analyzes the protein coding parts of your DNA. 478 00:27:14,720 --> 00:27:18,040 Speaker 1: Because the results of the exome study were inconclusive, the 479 00:27:18,160 --> 00:27:21,960 Speaker 1: UDN decides to run a genome study, which examines the 480 00:27:22,240 --> 00:27:26,679 Speaker 1: entire DNA sequence. Again, the family waits while they evaluate 481 00:27:26,760 --> 00:27:31,040 Speaker 1: this more in depth sequencing. But finally, months after they 482 00:27:31,080 --> 00:27:34,600 Speaker 1: begin this testing, and years after Sarah first noticed something 483 00:27:34,680 --> 00:27:37,720 Speaker 1: was wrong with Phoebe's health, the team at UDN tells 484 00:27:37,760 --> 00:27:41,800 Speaker 1: Sarah that there is a mutation GDF eleven. 485 00:27:42,080 --> 00:27:44,679 Speaker 2: It's a loss of function of GDF eleven. 486 00:27:45,119 --> 00:27:50,080 Speaker 1: The first time you remember seeing in print an actual name, 487 00:27:50,440 --> 00:27:55,040 Speaker 1: an explanation in terms of GDF eleven. What did that 488 00:27:55,119 --> 00:27:55,680 Speaker 1: mean to you? 489 00:27:57,000 --> 00:28:01,320 Speaker 2: For people that live undiagnosed, it's it's the dream come true. 490 00:28:01,320 --> 00:28:04,679 Speaker 2: It's like, oh, this is the name, this is the diagnosis. 491 00:28:05,040 --> 00:28:10,240 Speaker 2: It's hard to put into words, just how how thrilling 492 00:28:10,400 --> 00:28:14,680 Speaker 2: it is, you know, to finally have a name. You 493 00:28:14,760 --> 00:28:17,119 Speaker 2: knew there was something for years and years and years, 494 00:28:17,400 --> 00:28:21,800 Speaker 2: for over a decade, you knew even when there were 495 00:28:21,960 --> 00:28:27,680 Speaker 2: so many people, doctors, family members, friends, who doubted that 496 00:28:27,800 --> 00:28:29,320 Speaker 2: really that there was something wrong. 497 00:28:30,800 --> 00:28:33,880 Speaker 3: I was thirteen at the time. Honestly, I don't think 498 00:28:33,880 --> 00:28:37,040 Speaker 3: I understood the gravity of it. I wouldn't be where 499 00:28:37,080 --> 00:28:40,480 Speaker 3: I am without the Union and the GDF eleven diagnosis. 500 00:28:40,760 --> 00:28:45,200 Speaker 1: But GDF eleven was a newly identified gene, which means 501 00:28:45,240 --> 00:28:47,960 Speaker 1: that there was little understanding of how to proceed. 502 00:28:48,720 --> 00:28:52,719 Speaker 2: Honestly, the feeling was what next. This is a newly 503 00:28:52,800 --> 00:28:57,120 Speaker 2: identified gene, it's a newly identified disease. More or less 504 00:28:58,160 --> 00:29:01,320 Speaker 2: no one knew anything about its treatments for it, and 505 00:29:01,400 --> 00:29:05,200 Speaker 2: so it's this new journey now of what do you 506 00:29:05,240 --> 00:29:08,520 Speaker 2: do with it? How do you understand these changes, and 507 00:29:08,600 --> 00:29:12,400 Speaker 2: how do you improve the quality of life. 508 00:29:13,200 --> 00:29:16,480 Speaker 1: This was the next step in the Union led research journey. 509 00:29:17,000 --> 00:29:20,920 Speaker 1: Enter doctor Hugo Bellin at the Model Organism Screening Center 510 00:29:21,120 --> 00:29:23,040 Speaker 1: at Baylor College of Medicine. 511 00:29:23,560 --> 00:29:27,280 Speaker 6: My name is Hugo Bellin, and I'm a doctor in 512 00:29:27,400 --> 00:29:30,640 Speaker 6: veterinary medicine and a PhD in genetics. 513 00:29:31,960 --> 00:29:34,920 Speaker 1: Doctor Bellin runs the Belen Lab at Baylor and can 514 00:29:34,960 --> 00:29:39,440 Speaker 1: be credited with discovering over sixty novel diseases within the 515 00:29:39,480 --> 00:29:43,920 Speaker 1: genetic research field. Doctor Bellin has been admirably dubbed the 516 00:29:44,080 --> 00:29:45,400 Speaker 1: Lord of the Flies. 517 00:29:45,960 --> 00:29:50,280 Speaker 6: I started working with fruit flies because fruit flies were 518 00:29:50,520 --> 00:29:54,560 Speaker 6: a superb genetics system probably the best and still the 519 00:29:54,600 --> 00:29:58,040 Speaker 6: best system in the sense that you can manipulate flies 520 00:29:58,960 --> 00:30:04,000 Speaker 6: genetically very elegantly. And that drew me to the field, 521 00:30:04,040 --> 00:30:05,680 Speaker 6: and I've stayed in the field forever. 522 00:30:06,840 --> 00:30:11,680 Speaker 1: And how is your work connected to the undiagnosed diseases network? 523 00:30:12,000 --> 00:30:14,720 Speaker 6: It turns out that about eighty percent of the rare 524 00:30:14,800 --> 00:30:20,320 Speaker 6: disease patients have genetic lesions. The problem is very often 525 00:30:20,680 --> 00:30:25,760 Speaker 6: that they find potential genes, but they've never been associated 526 00:30:25,800 --> 00:30:29,480 Speaker 6: with a human disease. They don't know if the gene 527 00:30:29,480 --> 00:30:33,400 Speaker 6: could be responsible because the gene is not recorded as 528 00:30:33,480 --> 00:30:37,719 Speaker 6: causing a human disease. So how do you solve that question? 529 00:30:38,080 --> 00:30:41,920 Speaker 6: In this case for GDF eleven, there are six patients 530 00:30:42,200 --> 00:30:46,640 Speaker 6: and we tested these six different variants in fruit flies. 531 00:30:47,520 --> 00:30:50,840 Speaker 1: What were the GDF eleven research findings. 532 00:30:51,480 --> 00:30:56,440 Speaker 6: The GDF eleven gene is expressed mostly in muscles as 533 00:30:56,480 --> 00:31:01,320 Speaker 6: well as in specific cells in the brain, clear cells, 534 00:31:01,960 --> 00:31:05,400 Speaker 6: as well as in many other organs. And what it 535 00:31:05,480 --> 00:31:08,760 Speaker 6: is is kind of like a hormone. It's a protein 536 00:31:08,880 --> 00:31:13,440 Speaker 6: that's made by cells that's secrete it and it's processed 537 00:31:13,800 --> 00:31:17,560 Speaker 6: and secreted in the blood and can circulate in fluids, 538 00:31:17,720 --> 00:31:19,280 Speaker 6: not necessarily just the blur. 539 00:31:20,320 --> 00:31:22,280 Speaker 1: And how does that manifest in the body. 540 00:31:23,120 --> 00:31:26,880 Speaker 6: For GDF eleven, morphological deformities are one of the key 541 00:31:26,920 --> 00:31:29,720 Speaker 6: features in patients. They have bone deformities, and they have 542 00:31:29,960 --> 00:31:33,800 Speaker 6: phase problems, and their face is not properly developed sometimes 543 00:31:33,880 --> 00:31:37,880 Speaker 6: at extra rip. Those are morphological changes in structure. We 544 00:31:38,040 --> 00:31:43,200 Speaker 6: know that the gene can also cause problems with adherence 545 00:31:43,440 --> 00:31:47,520 Speaker 6: tissue adherents in the bone and apparently in the gut. 546 00:31:47,960 --> 00:31:52,600 Speaker 6: And so because it's such a broad pathway, you know, 547 00:31:52,680 --> 00:31:57,120 Speaker 6: you can secrete this protein from many sources and it 548 00:31:57,240 --> 00:32:00,800 Speaker 6: can bind to lig in to the receptors many different 549 00:32:00,880 --> 00:32:05,560 Speaker 6: cells and control the activity and the function of these cells. 550 00:32:08,080 --> 00:32:12,280 Speaker 1: The MOSC study, including doctor Bellin's research, comes out in 551 00:32:12,280 --> 00:32:16,040 Speaker 1: twenty twenty one, and Sarah pours over the research findings 552 00:32:16,240 --> 00:32:19,719 Speaker 1: desperately trying to understand if there is any way she 553 00:32:19,760 --> 00:32:23,400 Speaker 1: can do something with them to help find Phoebe some relief. 554 00:32:23,960 --> 00:32:27,040 Speaker 1: She contacts Udienne and requests that they organize a meeting 555 00:32:27,120 --> 00:32:31,200 Speaker 1: with doctor Bellin. Do you have any memory of that 556 00:32:31,280 --> 00:32:33,440 Speaker 1: meeting or your first impressions of Sarah. 557 00:32:33,880 --> 00:32:38,600 Speaker 6: Yeah, Sarah has been incredibly active and in a way proactive. 558 00:32:39,560 --> 00:32:43,480 Speaker 6: She's been really an advocate for the Undiagnosed Diseases Network 559 00:32:43,520 --> 00:32:47,560 Speaker 6: because of her experience trying to kind of figure out 560 00:32:47,960 --> 00:32:49,280 Speaker 6: how she can help her daughter. 561 00:32:49,960 --> 00:32:53,480 Speaker 1: Though there was no treatment established for Phoebe's condition at 562 00:32:53,480 --> 00:32:56,760 Speaker 1: this time, Sarah was not willing to accept that as 563 00:32:56,800 --> 00:33:00,360 Speaker 1: the final ruling. With the MOSC study in d hand, 564 00:33:00,600 --> 00:33:01,760 Speaker 1: she charged forward. 565 00:33:02,560 --> 00:33:06,400 Speaker 2: So I listened to a speaker. His name is Matt 566 00:33:06,480 --> 00:33:10,880 Speaker 2: Might out of University of Alabama Precision Medicine, and he 567 00:33:10,920 --> 00:33:17,680 Speaker 2: talked about how understanding gene changes can help medicine understand 568 00:33:17,960 --> 00:33:22,640 Speaker 2: pathways in people's bodies that might be causing issues. So 569 00:33:23,360 --> 00:33:27,560 Speaker 2: he talked about a specific example of a kid with epilepsy, 570 00:33:27,800 --> 00:33:31,120 Speaker 2: and they understood her gene change and came to some 571 00:33:31,360 --> 00:33:35,120 Speaker 2: ideas for treatments that were not FDA proof for epilepsy, 572 00:33:35,200 --> 00:33:38,520 Speaker 2: but that they thought might kind of aid that genetic 573 00:33:38,600 --> 00:33:42,680 Speaker 2: change in that pathway. So I approached him and his 574 00:33:42,800 --> 00:33:46,800 Speaker 2: staff and told him about Phoebe's gene change at GDF eleven, 575 00:33:47,000 --> 00:33:49,120 Speaker 2: and they took a look at it and they said, 576 00:33:49,160 --> 00:33:54,040 Speaker 2: you know, we think that this particular gene influences an 577 00:33:54,080 --> 00:33:58,000 Speaker 2: inflammatory pathway and that because of her loss of function, 578 00:33:58,200 --> 00:34:01,600 Speaker 2: that she may have more inflamma in her body than 579 00:34:01,760 --> 00:34:05,760 Speaker 2: what she should. So we think this drug called humor, 580 00:34:06,600 --> 00:34:11,840 Speaker 2: which dampens inflammation, might help with these adhesions. 581 00:34:12,360 --> 00:34:16,680 Speaker 1: A drug that already exists commonly used to target overactive 582 00:34:16,680 --> 00:34:20,600 Speaker 1: inflammation and patients who suffer from rheumatoid arthritis, may work 583 00:34:20,640 --> 00:34:23,600 Speaker 1: to address some of the symptoms related to Phoebe's rare 584 00:34:24,000 --> 00:34:25,680 Speaker 1: and newly identified condition. 585 00:34:26,400 --> 00:34:30,440 Speaker 6: And by networking and trying to connect with other teams 586 00:34:30,560 --> 00:34:35,600 Speaker 6: and by being part of a Terrapautics matching committee, she's 587 00:34:35,880 --> 00:34:38,560 Speaker 6: kind of discovered that there is a drug that helps 588 00:34:38,600 --> 00:34:42,080 Speaker 6: foe behind. That is this drug that kind of is 589 00:34:42,120 --> 00:34:46,200 Speaker 6: involved in the immune system, and she was true connections. 590 00:34:46,200 --> 00:34:48,920 Speaker 6: She's the one who discovered these true connections. 591 00:34:49,560 --> 00:34:53,480 Speaker 1: So how has Phoebe's life changed since she made that connection. 592 00:34:54,520 --> 00:34:59,080 Speaker 2: She has not had one surgery for her adhesions, so 593 00:34:59,200 --> 00:35:03,719 Speaker 2: in four years, over four years, that's incredible, It is incredible. 594 00:35:03,800 --> 00:35:08,120 Speaker 1: But you also have discovered a treatment because you were 595 00:35:08,280 --> 00:35:12,280 Speaker 1: so desperate to find relief for your daughter, and doctor 596 00:35:12,400 --> 00:35:13,600 Speaker 1: Mom figured that out. 597 00:35:15,040 --> 00:35:20,319 Speaker 2: Doctor Mom pushed for at least trying something. I think 598 00:35:20,360 --> 00:35:23,600 Speaker 2: it's really improved her quality of life. This is her 599 00:35:23,600 --> 00:35:25,640 Speaker 2: fourth year of high school since she's been in high school. 600 00:35:25,680 --> 00:35:29,320 Speaker 2: She hasn't really been in the hospital. She just wants 601 00:35:29,400 --> 00:35:32,399 Speaker 2: to be normal and look normal and be a part 602 00:35:32,800 --> 00:35:35,560 Speaker 2: of the crowd with the kids, and so it's allowed 603 00:35:35,600 --> 00:35:36,319 Speaker 2: her to do that. 604 00:35:37,040 --> 00:35:41,200 Speaker 3: My mom is probably the most impressive woman I've ever met. 605 00:35:41,239 --> 00:35:42,759 Speaker 3: And I'm not just saying that because she's my mom, 606 00:35:42,840 --> 00:35:46,560 Speaker 3: Like genuinely, if she wants something, especially for her kids, 607 00:35:46,560 --> 00:35:48,719 Speaker 3: she'll get it. I am so lucky to have a 608 00:35:48,760 --> 00:35:50,759 Speaker 3: mom literally rides it down for me. 609 00:35:51,080 --> 00:35:52,320 Speaker 5: She will do anything for me. 610 00:35:53,600 --> 00:35:58,160 Speaker 1: Because of Sarah's tireless advocacy, Phoebe has a bright future 611 00:35:58,160 --> 00:36:01,719 Speaker 1: ahead of her while she prepares to have off to college. Sarah, 612 00:36:01,760 --> 00:36:05,080 Speaker 1: motivated by her own journey, continues to fight for others 613 00:36:05,120 --> 00:36:09,399 Speaker 1: living with undiagnosed diseases. So tell me a little bit 614 00:36:09,719 --> 00:36:13,400 Speaker 1: about your work that you do with UDN. 615 00:36:13,480 --> 00:36:19,400 Speaker 2: Now, I became a part of this peer patient engagement 616 00:36:19,480 --> 00:36:24,680 Speaker 2: and empowerment resource, our group, this patient group became very 617 00:36:24,719 --> 00:36:29,080 Speaker 2: involved in the sustainability and interested in the sustainability of 618 00:36:29,280 --> 00:36:30,160 Speaker 2: the UDN. 619 00:36:29,840 --> 00:36:30,600 Speaker 5: As a resource. 620 00:36:31,200 --> 00:36:34,799 Speaker 2: So our group, I won't say single handedly, but we 621 00:36:35,680 --> 00:36:39,600 Speaker 2: had a large voice in a couple of different things. 622 00:36:39,640 --> 00:36:44,320 Speaker 2: One is connecting with legislators across the country to educate 623 00:36:44,320 --> 00:36:46,680 Speaker 2: them about the UDN and the importance of the UDN, 624 00:36:47,200 --> 00:36:52,000 Speaker 2: and also in establishing a nonprofit called the Undiagnosed Diseases 625 00:36:52,040 --> 00:36:57,239 Speaker 2: Network Foundation that is a foundation that was created by 626 00:36:57,360 --> 00:37:03,760 Speaker 2: patients for patients to support patients and families and also 627 00:37:04,800 --> 00:37:10,640 Speaker 2: support the quest of finding answers for all undiagnosed patients. 628 00:37:11,280 --> 00:37:14,160 Speaker 3: I hear her on phone calls with patients and like 629 00:37:15,120 --> 00:37:18,120 Speaker 3: it's not a job to her, she really cares about 630 00:37:18,120 --> 00:37:21,040 Speaker 3: these people. She cares about the stories. She wants them 631 00:37:21,080 --> 00:37:23,000 Speaker 3: to feel seen because she knows what it feels like 632 00:37:23,080 --> 00:37:26,080 Speaker 3: to not be seen. And it's important because so many 633 00:37:26,080 --> 00:37:31,560 Speaker 3: people are undiagnosed. But everyone, kids especially deserve to have 634 00:37:31,640 --> 00:37:33,920 Speaker 3: the chance out a good quality of life. And the 635 00:37:34,000 --> 00:37:37,600 Speaker 3: UDN and then UTI and F offers people a chance 636 00:37:37,680 --> 00:37:41,160 Speaker 3: I think at life and to see themselves thrive. 637 00:37:41,600 --> 00:37:45,000 Speaker 1: A gift that Phoebe herself does not take for granted. 638 00:37:45,480 --> 00:37:50,080 Speaker 1: What are you most excited for and hopeful about? 639 00:37:51,760 --> 00:37:54,000 Speaker 3: Truly becoming the person I needed when I was a 640 00:37:54,080 --> 00:37:57,239 Speaker 3: kid and I had so many people. I think being 641 00:37:57,280 --> 00:37:59,080 Speaker 3: a social worker is kind of my way of giving 642 00:37:59,080 --> 00:38:01,680 Speaker 3: back to people who believed to me. Why I couldn't 643 00:38:01,680 --> 00:38:05,080 Speaker 3: believe in myself, you know, I think that's I'm excited 644 00:38:05,080 --> 00:38:05,399 Speaker 3: for that. 645 00:38:05,960 --> 00:38:09,000 Speaker 2: In the United States, there are thirty million Americans with 646 00:38:09,080 --> 00:38:13,960 Speaker 2: a rare disease, and it takes on average seven years 647 00:38:14,360 --> 00:38:20,800 Speaker 2: to get to a diagnosis, and the cost to individuals, 648 00:38:21,040 --> 00:38:24,719 Speaker 2: to families, to society is more than it needs to be. 649 00:38:25,440 --> 00:38:30,239 Speaker 2: And resources like the UDON can shorten that time to 650 00:38:30,320 --> 00:38:34,720 Speaker 2: a diagnosis that allows people to live their best lives. 651 00:38:34,800 --> 00:38:37,200 Speaker 2: And that's what we all want. Not only do we 652 00:38:37,239 --> 00:38:41,640 Speaker 2: want that as mothers and fathers and neighbors and friends, but. 653 00:38:41,600 --> 00:38:43,040 Speaker 1: We want that as a society. 654 00:38:43,600 --> 00:38:47,560 Speaker 2: We want everyone in society to be able to attend school, 655 00:38:47,719 --> 00:38:51,400 Speaker 2: to be able to attend work, and feel and be productive. 656 00:38:52,120 --> 00:38:55,680 Speaker 2: And that's why a resource like the UDON is essential. 657 00:38:56,880 --> 00:38:59,120 Speaker 1: What is the message you want people to take away 658 00:38:59,680 --> 00:39:00,760 Speaker 1: from your story. 659 00:39:02,160 --> 00:39:05,480 Speaker 3: I've always told myself my thoughts are powerful. I think 660 00:39:05,480 --> 00:39:09,400 Speaker 3: it's important in the chronic illness world and in just 661 00:39:09,480 --> 00:39:13,920 Speaker 3: like regular life, that you determine the outcome. If you 662 00:39:13,960 --> 00:39:16,520 Speaker 3: get up every day, as hard as it is, and 663 00:39:17,560 --> 00:39:21,360 Speaker 3: continue the fight, surround yourself with people who love you 664 00:39:21,600 --> 00:39:25,480 Speaker 3: and that you love, there is hope for a better life. 665 00:39:27,520 --> 00:39:30,160 Speaker 3: My name is Phoebe Marshall, and it took ten years 666 00:39:30,160 --> 00:39:32,759 Speaker 3: of searching for answers until I got a diagnosis of 667 00:39:32,840 --> 00:39:35,000 Speaker 3: a loss of function in GDF eleven. 668 00:39:36,280 --> 00:39:41,920 Speaker 1: The Undiagnosed Diseases Network Foundation can be found at UDNF 669 00:39:41,960 --> 00:39:45,799 Speaker 1: dot org. As we wrap up another season of Symptomatic, 670 00:39:46,200 --> 00:39:48,520 Speaker 1: we want to say thank you to all of our 671 00:39:48,520 --> 00:39:52,160 Speaker 1: dedicated listeners. This season brought us stories that remind us 672 00:39:52,200 --> 00:39:55,680 Speaker 1: of the power of resilience and the impact of advocacy 673 00:39:55,719 --> 00:39:58,400 Speaker 1: and the rare disease community. We heard from a father 674 00:39:58,400 --> 00:40:00,520 Speaker 1: who devoted his life to find out being a cure 675 00:40:00,520 --> 00:40:04,360 Speaker 1: for his daughter's condition, from three generations of one family 676 00:40:04,400 --> 00:40:08,239 Speaker 1: who finally found relief after decades of searching, and from 677 00:40:08,320 --> 00:40:11,600 Speaker 1: so many others who have transformed their pain into purpose. 678 00:40:12,080 --> 00:40:14,320 Speaker 1: We can't wait to share more with you next season. 679 00:40:14,960 --> 00:40:17,719 Speaker 1: As always, we would love to hear from you. Send 680 00:40:17,760 --> 00:40:20,440 Speaker 1: us your thoughts on this episode or share a medical 681 00:40:20,480 --> 00:40:24,640 Speaker 1: mystery of your own at Symptomatic at iHeartMedia dot com, 682 00:40:25,400 --> 00:40:29,520 Speaker 1: and please rate and review Symptomatic wherever you get your podcasts. 683 00:40:30,000 --> 00:40:33,160 Speaker 1: We'll see you next time, and until then, be well. 684 00:40:34,400 --> 00:40:39,440 Speaker 1: Symptomatic a medical mystery podcast, is a production of iHeartMedia's 685 00:40:39,600 --> 00:40:44,840 Speaker 1: Ruby Studio. Our show is hosted by me Lauren Bright Pacheco. 686 00:40:44,960 --> 00:40:49,120 Speaker 1: Our executive producers are James Foster, Matt Ramano, and myself. 687 00:40:49,880 --> 00:40:55,040 Speaker 1: Our supervising producers are Ryan Ovadia, Haley Aliah Ericson, and 688 00:40:55,120 --> 00:40:59,920 Speaker 1: Daniel Ainsworth. This episode was written by Haley Aliah eric 689 00:41:00,120 --> 00:41:03,120 Speaker 1: Sen and edited by Samuel Richardson.