1 00:00:03,360 --> 00:00:10,719 Speaker 1: Ruby. She was screaming uncontrollably, like she was in pain 2 00:00:11,080 --> 00:00:14,920 Speaker 1: and confused and angry. You could just see on her face. 3 00:00:15,040 --> 00:00:18,000 Speaker 1: It was very, very clear that something was going very wrong. 4 00:00:18,600 --> 00:00:21,119 Speaker 2: When Rosie's thing was more of a new thing to 5 00:00:21,440 --> 00:00:24,840 Speaker 2: all of us, I kind of more focused on the 6 00:00:24,960 --> 00:00:25,840 Speaker 2: bad parts of it. 7 00:00:26,120 --> 00:00:28,159 Speaker 3: I Am not going to be okay if we're too 8 00:00:28,240 --> 00:00:30,680 Speaker 3: late to help Rosie. It has to be Rosie. We 9 00:00:30,800 --> 00:00:32,600 Speaker 3: have to get it done in time. For Rosie. 10 00:00:32,920 --> 00:00:37,040 Speaker 1: There's really nothing we can do casing, you know, rather 11 00:00:37,159 --> 00:00:39,360 Speaker 1: than make her comfortable good luck. 12 00:00:40,000 --> 00:00:43,720 Speaker 4: How terrifying would it be to fight an unknown enemy, 13 00:00:44,440 --> 00:00:48,600 Speaker 4: one you didn't recognize and didn't see coming. What if 14 00:00:48,640 --> 00:00:51,920 Speaker 4: that enemy was coming from within a disease that even 15 00:00:52,040 --> 00:00:56,360 Speaker 4: doctors couldn't identify. Nearly half of Americans suffered from some 16 00:00:56,560 --> 00:01:00,760 Speaker 4: chronic illness, and many struggle for an accurate dify diagnosis. 17 00:01:01,280 --> 00:01:05,600 Speaker 4: These are their stories. I'm Lauren Bray Pacheco, and this 18 00:01:05,959 --> 00:01:13,280 Speaker 4: is symptomatic. Before Casey McPherson became a father, he was 19 00:01:13,400 --> 00:01:17,959 Speaker 4: a rock star as the front man of Indecentsation Flying Colors. 20 00:01:18,240 --> 00:01:20,160 Speaker 4: He was used to life on the road. 21 00:01:21,319 --> 00:01:24,480 Speaker 1: I was touring all the time in a band. I 22 00:01:24,600 --> 00:01:27,600 Speaker 1: would be on tour for three weeks, six weeks, come 23 00:01:27,680 --> 00:01:30,200 Speaker 1: home for a few weeks. You know, you sort of 24 00:01:30,280 --> 00:01:33,320 Speaker 1: arrange your life however you saw fit. 25 00:01:34,440 --> 00:01:39,000 Speaker 4: You found incredible success as a musician, but it was 26 00:01:39,200 --> 00:01:42,360 Speaker 4: really hard earned. Tell me a little bit about the 27 00:01:42,400 --> 00:01:44,280 Speaker 4: early days when you first started out. 28 00:01:45,240 --> 00:01:48,520 Speaker 1: I'd spent over a decade living under the poverty line, 29 00:01:48,560 --> 00:01:52,200 Speaker 1: printing CDs in my house and playing to bartenders, you know, 30 00:01:52,280 --> 00:01:54,600 Speaker 1: touring in broken down vans. I can't tell you how 31 00:01:54,600 --> 00:01:56,400 Speaker 1: many times we broke down or the van caught on 32 00:01:56,480 --> 00:01:59,520 Speaker 1: fire or whatever. I remember one place we played said 33 00:01:59,520 --> 00:02:01,480 Speaker 1: we drank more than they were going to pay us, 34 00:02:01,520 --> 00:02:04,400 Speaker 1: so we owed them money. And I just remember thinking, like, 35 00:02:04,520 --> 00:02:07,440 Speaker 1: this is my life, you know. And so there was 36 00:02:07,480 --> 00:02:10,640 Speaker 1: a degree of grit. As you know, for artists, there's 37 00:02:10,639 --> 00:02:14,480 Speaker 1: an incredible amount of devotion you have to your craft. 38 00:02:14,680 --> 00:02:16,800 Speaker 1: I didn't think anything could ever take me out of 39 00:02:16,800 --> 00:02:19,720 Speaker 1: the music business. I had a songwriting out of making records. 40 00:02:19,760 --> 00:02:22,639 Speaker 1: I never thought I would be doing anything else besides that. 41 00:02:23,680 --> 00:02:27,800 Speaker 4: And then you became a father. What was the experience 42 00:02:27,800 --> 00:02:30,560 Speaker 4: of becoming a parent for the first time, like. 43 00:02:30,560 --> 00:02:35,520 Speaker 1: For you, I was in my mid thirties when I 44 00:02:35,800 --> 00:02:39,280 Speaker 1: had my first daughter, Weston, And I'll never forget that 45 00:02:39,400 --> 00:02:43,640 Speaker 1: day because I was already singing to her, you know, 46 00:02:43,840 --> 00:02:47,760 Speaker 1: in the womb, and when she came out, I knew 47 00:02:47,800 --> 00:02:52,520 Speaker 1: that there was nothing I wouldn't do for her, and 48 00:02:52,560 --> 00:02:56,640 Speaker 1: that my life was not my own anymore. I just knew. 49 00:02:57,040 --> 00:03:00,400 Speaker 1: I knew in that moment the meaning of unconditional love. 50 00:03:02,400 --> 00:03:05,280 Speaker 4: And how long after Wes was born was your second 51 00:03:05,360 --> 00:03:05,920 Speaker 4: daughter born. 52 00:03:06,600 --> 00:03:09,399 Speaker 1: I think a little under two years that the point 53 00:03:09,520 --> 00:03:12,079 Speaker 1: Rose was born, I had a major label record deal, 54 00:03:12,120 --> 00:03:14,079 Speaker 1: I had a couple of top ten hits on the radio. 55 00:03:14,200 --> 00:03:18,240 Speaker 1: I was touring the world. I'll never forget when Rose 56 00:03:18,320 --> 00:03:21,720 Speaker 1: was born. She had the umbilical cord wrapped around her neck, 57 00:03:21,840 --> 00:03:25,880 Speaker 1: and you know, it was very scary. I remember holding 58 00:03:26,160 --> 00:03:30,280 Speaker 1: this tiny, tiny little girl in my hands and thinking 59 00:03:30,440 --> 00:03:35,120 Speaker 1: that my charge now was to keep these little ladies alive, 60 00:03:35,360 --> 00:03:38,960 Speaker 1: help make them strong and independent, and you know, accomplish 61 00:03:39,040 --> 00:03:39,720 Speaker 1: their dreams. 62 00:03:41,480 --> 00:03:44,960 Speaker 4: Very quickly, Casey and his family began to have concerns 63 00:03:45,040 --> 00:03:50,520 Speaker 4: about regression in Rose's development. When looking back, is the 64 00:03:50,560 --> 00:03:55,400 Speaker 4: first time that something stuck out to you as maybe 65 00:03:55,680 --> 00:03:58,600 Speaker 4: an issue in terms of Rose's health? 66 00:03:59,120 --> 00:04:04,080 Speaker 1: About eighteen months I wasn't really convinced until she lost 67 00:04:04,080 --> 00:04:07,839 Speaker 1: her ability to speak, she was learning language. She first 68 00:04:07,920 --> 00:04:10,800 Speaker 1: learned a sign, which was normal at her age, and 69 00:04:10,840 --> 00:04:14,200 Speaker 1: then she started saying words like mom, dad, and outside. 70 00:04:14,520 --> 00:04:17,479 Speaker 1: She point to the door and say outside, and we'd 71 00:04:17,480 --> 00:04:21,240 Speaker 1: go outside. But when she stopped talking, it was that 72 00:04:21,279 --> 00:04:25,359 Speaker 1: sort of deterioration of language was when I knew this 73 00:04:25,720 --> 00:04:51,800 Speaker 1: was not okay. I have the girls, So she's in 74 00:04:51,839 --> 00:04:54,880 Speaker 1: the other room. You maybe can hear squeak and squeal 75 00:04:54,960 --> 00:04:55,919 Speaker 1: every now and then. 76 00:04:56,640 --> 00:05:03,520 Speaker 4: Today Rosie is nonverbal through sounds and physical cues. Throughout 77 00:05:03,520 --> 00:05:06,680 Speaker 4: the episode, we will rely on those closest to her 78 00:05:06,720 --> 00:05:11,480 Speaker 4: to share her experience. Though Rose no longer communicates with words, 79 00:05:11,920 --> 00:05:16,080 Speaker 4: she is full of personality. Here's her older sister, Weston. 80 00:05:16,560 --> 00:05:18,320 Speaker 1: She loves animals. 81 00:05:18,560 --> 00:05:21,440 Speaker 2: She looks like super shy and like scared, but once 82 00:05:21,440 --> 00:05:23,680 Speaker 2: she gets to know her, she's a little bit like 83 00:05:24,279 --> 00:05:27,760 Speaker 2: spicy and like a little bit sassy, but she's super 84 00:05:27,760 --> 00:05:31,000 Speaker 2: happy all the time whenever she loves. It's one of 85 00:05:31,080 --> 00:05:34,599 Speaker 2: the strongest emotions I get from her because that's one 86 00:05:34,640 --> 00:05:36,960 Speaker 2: of the only times you know what she's feeling. 87 00:05:38,560 --> 00:05:44,640 Speaker 4: What would you say is her absolute favorite food? 88 00:05:45,760 --> 00:05:51,320 Speaker 2: I think her favorite food is probably pasta. Her favorite 89 00:05:51,400 --> 00:05:54,800 Speaker 2: drink is definitely doctor pepper. She's stolen my dad's Doctor 90 00:05:54,800 --> 00:05:56,200 Speaker 2: Pepper millions sometimes. 91 00:05:56,800 --> 00:05:59,440 Speaker 4: What are some of your favorite things to do with Rosie? 92 00:06:00,120 --> 00:06:04,080 Speaker 2: I love listening to music with her. I think she's 93 00:06:04,279 --> 00:06:07,760 Speaker 2: always been someone who loves music too, whether it's like 94 00:06:08,200 --> 00:06:11,880 Speaker 2: watching TV or like listening to my dad play. I 95 00:06:11,920 --> 00:06:15,880 Speaker 2: think she just really enjoys like the sound of music 96 00:06:15,920 --> 00:06:18,479 Speaker 2: and like the feelings that come with it. I'm so 97 00:06:18,640 --> 00:06:21,159 Speaker 2: lucky to have her as my sister, because even though 98 00:06:21,160 --> 00:06:23,680 Speaker 2: she can't talk, she's just one of the most amazing 99 00:06:23,720 --> 00:06:39,440 Speaker 2: people I've ever met. It beautiful. 100 00:06:43,000 --> 00:06:47,960 Speaker 4: Did you notice any difference initially between Wes as a 101 00:06:48,000 --> 00:06:50,040 Speaker 4: baby and Rose as a baby. 102 00:06:50,680 --> 00:06:54,480 Speaker 1: You know, other than personality, not really. You know, at 103 00:06:54,520 --> 00:06:59,719 Speaker 1: some point Rose was beginning to experience some issues. You know, 104 00:06:59,760 --> 00:07:01,960 Speaker 1: she was having trouble going to the bathroom so I'd 105 00:07:02,000 --> 00:07:05,839 Speaker 1: have to give her enemas, and she would struggle with 106 00:07:05,920 --> 00:07:09,480 Speaker 1: eating solids. But for the most part, doctors told us, 107 00:07:09,520 --> 00:07:13,000 Speaker 1: you know, that's normal. Kids kind of developed, their systems 108 00:07:13,000 --> 00:07:16,920 Speaker 1: are getting started in different ways in different times. She 109 00:07:17,600 --> 00:07:20,360 Speaker 1: didn't want to walk, and then when she would try 110 00:07:20,400 --> 00:07:23,800 Speaker 1: to walk instead of falling on her hands, she would 111 00:07:23,880 --> 00:07:26,120 Speaker 1: fall flat on her face without putting her hands in 112 00:07:26,120 --> 00:07:29,160 Speaker 1: front of her, So there was this kind of gross 113 00:07:29,200 --> 00:07:34,320 Speaker 1: motor lack of response. She was also screaming uncontrollably, like 114 00:07:34,360 --> 00:07:38,000 Speaker 1: she was in pain all the time and confused and angry. 115 00:07:38,280 --> 00:07:40,720 Speaker 1: You know, you could just see on her face. This 116 00:07:40,920 --> 00:07:44,840 Speaker 1: wasn't like I'm tired or I need milk or you know, 117 00:07:44,960 --> 00:07:47,920 Speaker 1: it was very very clear that something was going very wrong. 118 00:07:48,400 --> 00:07:51,640 Speaker 4: What did our doctors say when you voiced your concerns? 119 00:07:51,680 --> 00:07:56,120 Speaker 4: Did they run any tests or give you any answers. 120 00:07:57,240 --> 00:08:01,800 Speaker 1: So, because our healthcare is some runs off of what 121 00:08:01,920 --> 00:08:06,440 Speaker 1: insurance will cover, they have a process, and the process 122 00:08:06,520 --> 00:08:10,080 Speaker 1: maybe differs from hospital to hospital, but it's relatively the same. 123 00:08:10,200 --> 00:08:11,840 Speaker 1: So they'll say, you know what, We're going to run 124 00:08:11,880 --> 00:08:16,520 Speaker 1: a panel and it tests for diseases that currently have treatments. 125 00:08:16,760 --> 00:08:20,360 Speaker 1: It doesn't test for diseases that don't. And keep in mind, 126 00:08:20,640 --> 00:08:23,760 Speaker 1: there's over ten thousand rare diseases and only five percent 127 00:08:23,800 --> 00:08:27,000 Speaker 1: of them have any treatments, so you can imagine how 128 00:08:27,000 --> 00:08:29,240 Speaker 1: many are left out on these panels. 129 00:08:29,560 --> 00:08:33,559 Speaker 4: The panel tests come back showing nothing to indicate an 130 00:08:33,559 --> 00:08:38,160 Speaker 4: abnormality that could be contributing to Rose's decline. With no 131 00:08:38,360 --> 00:08:41,880 Speaker 4: clear pathway laid out by Roses doctors, Casey takes it 132 00:08:41,960 --> 00:08:44,840 Speaker 4: upon himself to research what needs to be done next. 133 00:08:45,520 --> 00:08:48,319 Speaker 1: Her mom and I had started kind of doing some research, 134 00:08:48,400 --> 00:08:52,400 Speaker 1: and we knew enough about neurodevelopment to know that it's 135 00:08:52,520 --> 00:08:56,520 Speaker 1: often caused by genetic mutations. It was clear that she 136 00:08:56,720 --> 00:09:01,360 Speaker 1: was having trouble with balance and losing her words. She 137 00:09:01,440 --> 00:09:04,480 Speaker 1: struggled with feeding herself. When you know kids at that 138 00:09:04,559 --> 00:09:07,440 Speaker 1: point were sort of getting better at that you know, 139 00:09:07,559 --> 00:09:10,880 Speaker 1: it was severely missing milestones at this point. In order 140 00:09:10,920 --> 00:09:15,000 Speaker 1: to find a genetic mutation, you needed genetic sequencing done, 141 00:09:15,040 --> 00:09:18,080 Speaker 1: and at the time, the only one we could afford 142 00:09:18,440 --> 00:09:21,960 Speaker 1: was a whole exome sequence because it was ten thousand dollars. 143 00:09:22,080 --> 00:09:24,319 Speaker 1: Keep in mind it's two hundred and fifty dollars now. 144 00:09:24,880 --> 00:09:28,560 Speaker 1: They sent some boxes to us of swabs and I 145 00:09:28,600 --> 00:09:32,600 Speaker 1: had to swab me, swab Mom, swab Weston, swab Rose 146 00:09:32,679 --> 00:09:35,880 Speaker 1: and send those back and I think that took a 147 00:09:35,920 --> 00:09:37,959 Speaker 1: few months or four months to get all of that. 148 00:09:39,080 --> 00:09:42,559 Speaker 4: The stress of waiting for answers while watching Rose's health 149 00:09:42,559 --> 00:09:46,280 Speaker 4: get worse weigh heavily on Casey and his family as 150 00:09:46,280 --> 00:09:49,840 Speaker 4: they await a prognosis, Casey and his wife split up. 151 00:09:52,480 --> 00:09:57,080 Speaker 4: Can you give us an example of just how serious 152 00:09:57,160 --> 00:09:58,000 Speaker 4: things were getting? 153 00:09:58,559 --> 00:10:01,840 Speaker 1: Yeah, you know, she died from her first seizure for 154 00:10:02,000 --> 00:10:04,640 Speaker 1: a couple of minutes when mom had to bring her back. 155 00:10:06,160 --> 00:10:12,839 Speaker 4: That must have been terrifying for everyone, almost losing Rosie, 156 00:10:12,880 --> 00:10:16,760 Speaker 4: but also still having to wait for answers as to 157 00:10:17,000 --> 00:10:20,840 Speaker 4: what was causing all of this. What was that like 158 00:10:20,920 --> 00:10:24,800 Speaker 4: for you as a father? How did you handle that? 159 00:10:26,400 --> 00:10:30,920 Speaker 1: I was trying to keep everybody calm, and as so 160 00:10:31,040 --> 00:10:33,640 Speaker 1: many ways, I was minimizing, like, hey, it's going to 161 00:10:33,679 --> 00:10:37,000 Speaker 1: be okay, She's going to get through this. And you know, 162 00:10:37,080 --> 00:10:44,360 Speaker 1: I think anytime you experience unimaginable loss or devastation, there's 163 00:10:44,520 --> 00:10:48,640 Speaker 1: sort of a level of unbelief or disbelief, and I 164 00:10:48,640 --> 00:10:51,040 Speaker 1: think I sort of had that. So I was doing 165 00:10:51,080 --> 00:10:53,320 Speaker 1: the work to try to get to an answer, but 166 00:10:53,480 --> 00:10:55,600 Speaker 1: also didn't really think it was going. 167 00:10:55,520 --> 00:10:56,400 Speaker 3: To be this bad. 168 00:10:56,880 --> 00:11:03,520 Speaker 1: And then they emailed us a report, and that's when 169 00:11:03,559 --> 00:11:07,720 Speaker 1: I had to schedule another pediatric neurologist appointment so that 170 00:11:07,800 --> 00:11:10,800 Speaker 1: he could tell me what I was looking at. I 171 00:11:10,960 --> 00:11:14,280 Speaker 1: remember I had both girls, I was alone with them. 172 00:11:14,679 --> 00:11:17,520 Speaker 1: I held both their hands, walked them across the parking 173 00:11:17,559 --> 00:11:23,280 Speaker 1: lot into the elevator. Rose cannot handle elevators. She was screaming, 174 00:11:23,800 --> 00:11:26,880 Speaker 1: makes west and cry, then finally calling my name, going 175 00:11:26,920 --> 00:11:29,880 Speaker 1: into the small little room that Rose also didn't like. 176 00:11:31,280 --> 00:11:35,679 Speaker 1: I remember the pediatric neurologist walking in with very little 177 00:11:36,000 --> 00:11:40,520 Speaker 1: empathy and saying this Jeneta report shows that she's got 178 00:11:40,520 --> 00:11:43,240 Speaker 1: a genetic disease, a mutation in the h and rmph 179 00:11:43,280 --> 00:11:44,480 Speaker 1: two gene. 180 00:11:44,559 --> 00:11:48,200 Speaker 4: What the neurologist tells them shocks Casey and his family 181 00:11:48,240 --> 00:11:52,679 Speaker 4: to the core. Rose's results show a rare mutation on 182 00:11:52,760 --> 00:11:57,640 Speaker 4: the h n r n pH two gene of the 183 00:11:57,840 --> 00:12:01,960 Speaker 4: H chromosome. The condition is called h n r n 184 00:12:02,080 --> 00:12:06,920 Speaker 4: pH two related developmental disorder. At only three years old, 185 00:12:07,440 --> 00:12:12,720 Speaker 4: Rose is diagnosed with an untreatable disorder with a devastating prognosis. 186 00:12:13,200 --> 00:12:16,280 Speaker 1: Because this is what happens with these kids. They never 187 00:12:16,360 --> 00:12:19,839 Speaker 1: live on their own, and they developed seizures around eight 188 00:12:20,280 --> 00:12:22,840 Speaker 1: Some of them have died. We don't know why. We 189 00:12:22,880 --> 00:12:25,120 Speaker 1: think it could be the seizures. Some of them have 190 00:12:25,240 --> 00:12:27,160 Speaker 1: a few words that they can say, most of them 191 00:12:27,280 --> 00:12:31,960 Speaker 1: can't talk. Some end up catatonic and wheelchairs. Some can walk. 192 00:12:32,280 --> 00:12:36,360 Speaker 1: So there's this huge variety of what could happen to Rosie, 193 00:12:36,400 --> 00:12:38,960 Speaker 1: but one thing was clear. She would never live on 194 00:12:39,000 --> 00:12:41,120 Speaker 1: her own, she would never go to college, she would 195 00:12:41,160 --> 00:12:43,960 Speaker 1: never get married, or have a job or go to 196 00:12:44,000 --> 00:12:46,880 Speaker 1: the movies with her friends. Like that, life was not 197 00:12:46,920 --> 00:12:47,640 Speaker 1: going to happen. 198 00:12:48,480 --> 00:12:54,800 Speaker 4: Were you left with any advice? What did the doctors say? 199 00:12:55,280 --> 00:12:59,440 Speaker 1: There's really nothing we can do casing, you know, other 200 00:12:59,480 --> 00:13:02,720 Speaker 1: than make her comfortable. Good luck, good luck, and those 201 00:13:02,840 --> 00:13:09,080 Speaker 1: words ringing in my ears. I remember being shocked leaving 202 00:13:09,120 --> 00:13:11,520 Speaker 1: there with both girls and getting in the van and 203 00:13:11,559 --> 00:13:14,320 Speaker 1: feeling super alone. 204 00:13:18,320 --> 00:13:21,560 Speaker 4: Casey is left without answers to deal with a disorder 205 00:13:21,600 --> 00:13:24,760 Speaker 4: that is so rare that in twenty twenty one, only 206 00:13:24,880 --> 00:13:30,319 Speaker 4: thirty three cases had been documented worldwide. Here is Rodney Bowling, Junior, 207 00:13:30,679 --> 00:13:34,040 Speaker 4: an expert in the field of molecular genetics, to explain 208 00:13:34,080 --> 00:13:36,440 Speaker 4: the mutation causing Rosie's condition. 209 00:13:37,920 --> 00:13:42,040 Speaker 3: Rosie has a single based permutation in her hn rn 210 00:13:42,160 --> 00:13:46,720 Speaker 3: pH two gene very niche. It is a member of 211 00:13:46,760 --> 00:13:51,720 Speaker 3: the spliceosome that removes entrons from the premature message to 212 00:13:51,800 --> 00:13:55,240 Speaker 3: allow it to be made into messenger RNA. So in 213 00:13:55,360 --> 00:13:58,680 Speaker 3: Rosie's case, h n rnph two, I'm just going to 214 00:13:58,720 --> 00:14:02,080 Speaker 3: call it H two. A H two reaches out with 215 00:14:02,240 --> 00:14:07,200 Speaker 3: one hand and grabs hold of an unprocessed RNA. The 216 00:14:07,280 --> 00:14:11,920 Speaker 3: other hand grabs the splicees ome and introduces the RNA 217 00:14:11,960 --> 00:14:15,679 Speaker 3: to the splice's ome for processing. In Rosie's case, it 218 00:14:15,760 --> 00:14:19,080 Speaker 3: reaches out and grabs the RNA, but there's a great 219 00:14:19,120 --> 00:14:22,120 Speaker 3: big trip to fan amino acid right in the middle 220 00:14:22,400 --> 00:14:26,520 Speaker 3: of the domain that should introduce and bind the splicesome 221 00:14:26,840 --> 00:14:30,640 Speaker 3: that blocks that interaction. It's like putting on a boxing 222 00:14:30,680 --> 00:14:32,760 Speaker 3: glove and trying to shake somebody's hand. It's not going 223 00:14:32,840 --> 00:14:37,240 Speaker 3: to happen very well. So the protein sequesters more than 224 00:14:37,280 --> 00:14:41,840 Speaker 3: four hundred different messages away from being processed, and this 225 00:14:41,960 --> 00:14:43,160 Speaker 3: is what causes her disease. 226 00:14:44,840 --> 00:14:47,960 Speaker 1: Rosie definitely has this disease. So I have to accept 227 00:14:47,960 --> 00:14:51,480 Speaker 1: that right, and that took some time, Like there's a 228 00:14:51,520 --> 00:14:54,120 Speaker 1: grief that you go through when you know that your 229 00:14:54,200 --> 00:14:57,640 Speaker 1: child is not going to have the same freedoms and 230 00:14:58,240 --> 00:15:01,800 Speaker 1: hopes and dreams and cap abilities that you and I do, 231 00:15:02,080 --> 00:15:03,920 Speaker 1: or you know you want that for your children. 232 00:15:04,760 --> 00:15:07,360 Speaker 4: Faced with a challenge she could not fix with the 233 00:15:07,400 --> 00:15:11,080 Speaker 4: tools available, Casey began to wonder if he could build 234 00:15:11,160 --> 00:15:11,880 Speaker 4: his own. 235 00:15:12,440 --> 00:15:16,000 Speaker 1: Why doesn't she have a treatment. What's the problem. And 236 00:15:16,040 --> 00:15:20,720 Speaker 1: that's first sent me down a journey of research. Right, 237 00:15:20,760 --> 00:15:24,160 Speaker 1: the veil had sort of been lifted and said, oh, 238 00:15:24,360 --> 00:15:31,320 Speaker 1: the hospital can't help my daughter. So I remember the 239 00:15:31,360 --> 00:15:35,400 Speaker 1: first metric that really got me was that there were 240 00:15:35,400 --> 00:15:38,480 Speaker 1: over four hundred million people with diseases like this, half 241 00:15:38,520 --> 00:15:41,280 Speaker 1: of them are children. Thirty percent of those kids die 242 00:15:41,320 --> 00:15:44,520 Speaker 1: before their fifth birthday. That's in the tens of millions, right, 243 00:15:45,160 --> 00:15:49,000 Speaker 1: and that only five percent of these ten thousand plus 244 00:15:49,120 --> 00:15:53,000 Speaker 1: rare diseases actually have treatments. So I had to identify 245 00:15:53,040 --> 00:15:56,040 Speaker 1: the monster first, what was the actual problem? And I 246 00:15:56,080 --> 00:15:59,640 Speaker 1: realized it wasn't a technology issue for most these diseases, 247 00:15:59,640 --> 00:16:03,880 Speaker 1: it was a business model issue. We had created a 248 00:16:03,880 --> 00:16:07,840 Speaker 1: healthcare system where we developed drugs for large populations, but 249 00:16:08,240 --> 00:16:11,480 Speaker 1: most genetic disease is ulterriy even could be one person 250 00:16:11,720 --> 00:16:14,320 Speaker 1: similar to Rose. She didn't have a cure, she didn't 251 00:16:14,320 --> 00:16:17,440 Speaker 1: have a treatment because nobody felt like they could make 252 00:16:17,560 --> 00:16:21,080 Speaker 1: enough money off of it. Wow mm hmm. 253 00:16:21,880 --> 00:16:24,520 Speaker 4: Just thinking of like sitting in that van with your 254 00:16:24,520 --> 00:16:29,240 Speaker 4: two girls, having just been blindsided by the brutal reality 255 00:16:29,480 --> 00:16:31,800 Speaker 4: of not only what she's dealing with, but the fact 256 00:16:31,800 --> 00:16:33,840 Speaker 4: that no one's offering you hope? 257 00:16:34,080 --> 00:16:34,720 Speaker 2: How did you? 258 00:16:35,360 --> 00:16:40,400 Speaker 4: How did you turn your pain into the path forward? 259 00:16:41,840 --> 00:16:46,280 Speaker 1: Anyone who's experienced immense tragedy in their life or suffering 260 00:16:46,600 --> 00:16:50,080 Speaker 1: or loss, I'd lost both my brother and father to suicide, 261 00:16:50,600 --> 00:16:54,600 Speaker 1: I think understands you kind of have two options. You 262 00:16:54,600 --> 00:16:58,760 Speaker 1: have an option to continue your suffering by stuffing it 263 00:16:58,880 --> 00:17:05,520 Speaker 1: down or or hiding it away or running away, or 264 00:17:06,160 --> 00:17:09,760 Speaker 1: you find some way to create purpose out of it. 265 00:17:10,320 --> 00:17:13,040 Speaker 1: I had to figure out how to turn pain into purpose. 266 00:17:13,160 --> 00:17:15,840 Speaker 1: But I knew nothing about genetics. I certainly didn't know 267 00:17:15,880 --> 00:17:19,240 Speaker 1: anything about ner developmental disease, you know, being a rock 268 00:17:19,280 --> 00:17:22,439 Speaker 1: and roll guy, having fallen asleep in biology class in 269 00:17:22,520 --> 00:17:27,000 Speaker 1: high school. I'm like, am I smart enough to do 270 00:17:27,160 --> 00:17:28,120 Speaker 1: something about this? 271 00:17:29,480 --> 00:17:33,280 Speaker 4: We'll be right back with Symptomatic, a Medical Mystery Podcast. 272 00:17:42,359 --> 00:17:49,840 Speaker 4: Now back to Symptomatic, a Medical Mystery Podcast. Casey McPherson 273 00:17:50,200 --> 00:17:53,400 Speaker 4: has been told by doctors that there is no treatment 274 00:17:53,480 --> 00:17:56,359 Speaker 4: for the rare condition that will continue to plague his 275 00:17:56,520 --> 00:18:01,040 Speaker 4: daughter Rose. Time is against him. Is Rosy's condition gains ground, 276 00:18:01,560 --> 00:18:04,080 Speaker 4: he feels that he must take matters into his own 277 00:18:04,119 --> 00:18:08,479 Speaker 4: hands and do something. Having lost both his brother and 278 00:18:08,640 --> 00:18:12,000 Speaker 4: father to suicide in the years prior. Casey was no 279 00:18:12,160 --> 00:18:15,320 Speaker 4: stranger to pain and suffering. But he will do what 280 00:18:15,359 --> 00:18:19,480 Speaker 4: he has always done, turn that pain into purpose. He 281 00:18:19,560 --> 00:18:25,040 Speaker 4: sets out to find a cure for Rose. So where 282 00:18:25,040 --> 00:18:25,840 Speaker 4: did you begin. 283 00:18:26,359 --> 00:18:30,760 Speaker 1: There were these, you know, genetic technologies. Some people do 284 00:18:30,880 --> 00:18:34,359 Speaker 1: research with them, and you know have created treatments in 285 00:18:34,359 --> 00:18:36,480 Speaker 1: the past, but it was never like you, as a 286 00:18:36,560 --> 00:18:40,080 Speaker 1: parent had could do that. So I google parent cure's 287 00:18:40,160 --> 00:18:43,600 Speaker 1: child of rare disease, and I find a few parents 288 00:18:43,720 --> 00:18:46,600 Speaker 1: that actually did. They raised a couple of million dollars, 289 00:18:46,880 --> 00:18:49,719 Speaker 1: they hired some researchers, they built a genetic treatment, they 290 00:18:49,720 --> 00:18:53,080 Speaker 1: treated their kid in a clinical trial. I'm like, holy crap, 291 00:18:53,240 --> 00:18:56,439 Speaker 1: this is actually happening all over the world. And that 292 00:18:56,480 --> 00:18:59,000 Speaker 1: gave me a lot of hope that not only was 293 00:18:59,040 --> 00:19:03,040 Speaker 1: this possible, people were actually doing it, but not everybody 294 00:19:03,080 --> 00:19:05,280 Speaker 1: can raise that kind of money, and I didn't have 295 00:19:05,359 --> 00:19:09,040 Speaker 1: that kind of money. I particularly focused on learning from 296 00:19:09,080 --> 00:19:12,840 Speaker 1: a woman named Julia Viderello. Julia Viderello and doctor tim 297 00:19:13,040 --> 00:19:16,520 Speaker 1: U created the first ever genetic treatment for one person 298 00:19:16,560 --> 00:19:19,000 Speaker 1: in the world, for her daughter Mila. They went from 299 00:19:19,040 --> 00:19:21,560 Speaker 1: diagnosis to designing the drug and treating her in a 300 00:19:21,600 --> 00:19:23,760 Speaker 1: trial in less than a year, and it was the 301 00:19:23,760 --> 00:19:25,840 Speaker 1: first time in the world anyone had ever done that, 302 00:19:26,400 --> 00:19:29,280 Speaker 1: and so she really helped me get started on the 303 00:19:29,320 --> 00:19:31,160 Speaker 1: path of who to talk to and how to think 304 00:19:31,200 --> 00:19:31,640 Speaker 1: about it. 305 00:19:32,400 --> 00:19:37,160 Speaker 4: Casey, a professional musician with no background in medicine or biology, 306 00:19:37,640 --> 00:19:41,560 Speaker 4: started reaching out to anyone and everyone he could find 307 00:19:42,040 --> 00:19:45,800 Speaker 4: to gain insight into the process of building a genetic treatment. 308 00:19:47,000 --> 00:19:50,399 Speaker 1: I probably talked to two or three hundred CEOs of 309 00:19:50,400 --> 00:19:54,879 Speaker 1: biotech companies, drug developers, scientists and developed a network of 310 00:19:54,960 --> 00:19:58,679 Speaker 1: people that wanted to help. And even Ultrogenics let me 311 00:19:58,680 --> 00:20:02,159 Speaker 1: attend their drug development boot camp for four days, which 312 00:20:02,720 --> 00:20:05,679 Speaker 1: showed me how to manage a drug development program. I 313 00:20:05,720 --> 00:20:10,640 Speaker 1: started taking genetics classes online and I started learning how 314 00:20:10,680 --> 00:20:12,240 Speaker 1: people raise money for this. 315 00:20:13,240 --> 00:20:17,040 Speaker 4: Somewhere along as outreach journey, Casey comes across the expert 316 00:20:17,119 --> 00:20:20,879 Speaker 4: in molecular genetics and drug development that you heard from earlier, 317 00:20:21,359 --> 00:20:26,520 Speaker 4: Rodney Bowling Junior. So how do you explain what you 318 00:20:26,640 --> 00:20:28,320 Speaker 4: do to everyday people? 319 00:20:28,640 --> 00:20:33,520 Speaker 3: There are ten thousand different rare diseases. There's another child 320 00:20:33,600 --> 00:20:37,240 Speaker 3: born with a new rare disease that we've never seen before. 321 00:20:37,400 --> 00:20:41,639 Speaker 3: Every day, a rare disease that will not be addressed 322 00:20:41,920 --> 00:20:47,000 Speaker 3: by big pharma population medicine. A child that is as 323 00:20:47,119 --> 00:20:52,200 Speaker 3: loved as any other, but with no option for treatment. 324 00:20:52,760 --> 00:20:55,639 Speaker 3: So I work to make a treatment for that child. 325 00:20:56,119 --> 00:20:58,679 Speaker 4: So you are a problem solver by nature. 326 00:20:59,160 --> 00:21:04,040 Speaker 3: Well, I am an engineer. I approach medicine with those 327 00:21:04,200 --> 00:21:06,240 Speaker 3: engineering practices I learned in school. 328 00:21:07,080 --> 00:21:09,159 Speaker 1: If you're looking for a drug developing scientist, one of 329 00:21:09,200 --> 00:21:12,840 Speaker 1: the best folks to look for are these drug hunter 330 00:21:12,960 --> 00:21:15,720 Speaker 1: guys that have put these drugs into the clinic, and 331 00:21:15,720 --> 00:21:20,120 Speaker 1: they're a different breed. They know biology like you might 332 00:21:20,680 --> 00:21:24,000 Speaker 1: know your backyard or your bedroom, like where you could 333 00:21:24,119 --> 00:21:27,720 Speaker 1: navigate it in the dark. That's how these guys know biology, 334 00:21:28,119 --> 00:21:30,440 Speaker 1: in how cells work and how genetics work. 335 00:21:31,280 --> 00:21:34,840 Speaker 4: When Casey found him, Rodney was the director of molecular 336 00:21:34,880 --> 00:21:37,879 Speaker 4: genetics at a biotech company and had been working on 337 00:21:38,000 --> 00:21:42,600 Speaker 4: gene targeting projects and drug development for decades. Shooting his 338 00:21:42,720 --> 00:21:46,480 Speaker 4: shot as is consistent with Casey's approach to life, Casey 339 00:21:46,720 --> 00:21:47,920 Speaker 4: sent him a message. 340 00:21:49,200 --> 00:21:51,400 Speaker 1: I reached out to him on LinkedIn and said. 341 00:21:51,320 --> 00:21:55,639 Speaker 3: My daughter has an alphabet disease. The doctor doesn't know 342 00:21:55,680 --> 00:21:57,199 Speaker 3: what it is. I sure as hell don't know what 343 00:21:57,240 --> 00:21:59,760 Speaker 3: it is. I see from your credentials that you should 344 00:21:59,760 --> 00:22:02,960 Speaker 3: be to help. I worked with a team of scientists 345 00:22:03,000 --> 00:22:06,879 Speaker 3: and spoke almost exclusively to them, and you develop a 346 00:22:06,960 --> 00:22:11,600 Speaker 3: language that's unique to the sciences, particularly to antibody science. 347 00:22:12,000 --> 00:22:15,400 Speaker 3: And here a father called, and I didn't know how 348 00:22:15,440 --> 00:22:18,359 Speaker 3: to speak his language, and it just was miserable. 349 00:22:18,560 --> 00:22:22,040 Speaker 1: I wanted to help, so they decided to meet. 350 00:22:22,600 --> 00:22:25,160 Speaker 4: It was a day that would go down in history 351 00:22:25,320 --> 00:22:27,200 Speaker 4: for both of them. 352 00:22:27,640 --> 00:22:31,000 Speaker 3: The man I met over lunch is a father who 353 00:22:31,040 --> 00:22:34,879 Speaker 3: would do anything and has done everything to help his daughter. 354 00:22:35,400 --> 00:22:38,919 Speaker 3: He is charismatic and on a mission. And it is 355 00:22:39,080 --> 00:22:43,720 Speaker 3: so easy to fall in behind him and help him 356 00:22:43,840 --> 00:22:47,680 Speaker 3: carry that mission. Very quickly, you become a brother. You 357 00:22:47,760 --> 00:22:50,840 Speaker 3: want to see him succeed. You need to see him succeed. 358 00:22:51,320 --> 00:22:54,800 Speaker 3: That lunch turned into dinner and we started to cure 359 00:22:54,880 --> 00:22:55,640 Speaker 3: rose that day. 360 00:22:56,080 --> 00:22:58,720 Speaker 4: Did it surprise you in retrospect that you were so 361 00:22:59,000 --> 00:23:00,200 Speaker 4: in a media. 362 00:23:00,720 --> 00:23:06,240 Speaker 3: Honestly, I have six healthy children, and I feel that 363 00:23:06,280 --> 00:23:10,040 Speaker 3: I owe a debt, an unpayable debt, to the fact 364 00:23:10,080 --> 00:23:11,680 Speaker 3: that I have those six healthy kids. 365 00:23:11,880 --> 00:23:14,600 Speaker 1: I'll remember he had all these papers, you know, about 366 00:23:14,600 --> 00:23:17,639 Speaker 1: the disease, and said, oh my god, this is so serious. Casey. 367 00:23:17,720 --> 00:23:20,439 Speaker 1: We have to do something about this. He left his 368 00:23:20,600 --> 00:23:24,600 Speaker 1: career at ex Biotech. He was just super successful drug developer. 369 00:23:24,600 --> 00:23:28,280 Speaker 1: He was offered a ton of money to go to Murk. 370 00:23:28,960 --> 00:23:31,280 Speaker 1: He had like over fifteen drugs he had put in 371 00:23:31,280 --> 00:23:33,560 Speaker 1: clinical trials. He would tell me, Casey, I'm tired of 372 00:23:33,560 --> 00:23:36,600 Speaker 1: making rich people richer. I want to do something that 373 00:23:36,800 --> 00:23:40,040 Speaker 1: matters to me, and I want to see these kids 374 00:23:40,080 --> 00:23:41,840 Speaker 1: get treated. I'll never forget that day. 375 00:23:42,520 --> 00:23:45,480 Speaker 4: And from that day, Casey and Rodney would work as 376 00:23:45,480 --> 00:23:49,320 Speaker 4: a team with a shared mission find a cure for Rose. 377 00:23:50,720 --> 00:23:55,520 Speaker 4: With a problem this big to solve. Where do you 378 00:23:55,680 --> 00:24:00,000 Speaker 4: even start in science? There's always someone in front of you. 379 00:24:00,520 --> 00:24:04,560 Speaker 4: So there was an academic center that had already demonstrated 380 00:24:04,600 --> 00:24:07,919 Speaker 4: significant progress and understood a lot more about. 381 00:24:07,760 --> 00:24:10,880 Speaker 3: Rosy's disease than I did. So I read those papers 382 00:24:11,240 --> 00:24:16,680 Speaker 3: and went and connected Casey to those people. The scientists 383 00:24:16,680 --> 00:24:19,440 Speaker 3: that we were able to work with were incredible and amazing. 384 00:24:19,720 --> 00:24:24,280 Speaker 3: The Technology Transfer Office made it impossible to work with them, 385 00:24:24,680 --> 00:24:27,480 Speaker 3: so we ended up having to leave that academic center. 386 00:24:27,920 --> 00:24:32,080 Speaker 3: From there, I went to a contract research organization. And 387 00:24:32,160 --> 00:24:36,440 Speaker 3: this contract research organization had always done excellent work. Their 388 00:24:36,480 --> 00:24:39,159 Speaker 3: average contract was probably more than two million dollars. 389 00:24:39,720 --> 00:24:42,640 Speaker 1: But you know, again, not everybody can raise that kind 390 00:24:42,680 --> 00:24:44,840 Speaker 1: of money, and I didn't have that kind of money. 391 00:24:45,400 --> 00:24:47,879 Speaker 3: I came to them with a little penny. Any sixty 392 00:24:47,960 --> 00:24:52,040 Speaker 3: thousand dollars contract nothing to them, but for Casey that's 393 00:24:52,080 --> 00:24:54,520 Speaker 3: all the money he had and asked them to make 394 00:24:54,600 --> 00:24:57,800 Speaker 3: me seven cell lines. They told me, okay, we'll have 395 00:24:57,880 --> 00:24:59,200 Speaker 3: those for you in six months. 396 00:24:59,720 --> 00:25:03,399 Speaker 4: These cell lines, produced from Rose's own genetics, were vital 397 00:25:03,440 --> 00:25:07,080 Speaker 4: to developing a treatment to treat the disease they first 398 00:25:07,119 --> 00:25:11,080 Speaker 4: needed to understand it. But six months come and go 399 00:25:11,600 --> 00:25:14,320 Speaker 4: and Rodney has still not heard back about the cell 400 00:25:14,359 --> 00:25:18,240 Speaker 4: lines that are necessary to progress their research on finding 401 00:25:18,240 --> 00:25:24,159 Speaker 4: a treatment. Battling intensifying gastro intestinal issues, looming growth challenges, 402 00:25:24,560 --> 00:25:28,520 Speaker 4: and potentially life threatening seizures, they are fighting the clock, 403 00:25:29,040 --> 00:25:32,640 Speaker 4: and for Rosie, every moment without a cure counts. 404 00:25:33,359 --> 00:25:35,639 Speaker 3: More than a year later, I called up and was 405 00:25:35,920 --> 00:25:39,159 Speaker 3: just screaming at them, where are these what is going on? 406 00:25:39,560 --> 00:25:43,119 Speaker 3: And they came back and said, well, honestly, we've lost 407 00:25:43,240 --> 00:25:46,000 Speaker 3: half the cell lines and we can't locate them. We 408 00:25:46,160 --> 00:25:48,879 Speaker 3: paid thirty thousand dollars up front. I got three of 409 00:25:48,880 --> 00:25:52,080 Speaker 3: the seven. I was Okay, well then we've paid you 410 00:25:52,119 --> 00:25:54,960 Speaker 3: were done. No, they sent a lawyer after us and 411 00:25:55,000 --> 00:25:57,919 Speaker 3: sent us to collections to collect the other thirty thousand 412 00:25:58,000 --> 00:26:00,560 Speaker 3: dollars off the cell lines if they never could find. 413 00:26:00,800 --> 00:26:04,320 Speaker 3: So I was literally sitting on Casey's front porch crying 414 00:26:04,359 --> 00:26:08,040 Speaker 3: into a glass of whiskey that I just I couldn't 415 00:26:08,040 --> 00:26:11,359 Speaker 3: make it happen. And Casey said, Rodney, we just need 416 00:26:11,359 --> 00:26:12,320 Speaker 3: to start our own lab. 417 00:26:14,800 --> 00:26:19,560 Speaker 1: When I realized that private contract research organizations or academic centers, 418 00:26:19,600 --> 00:26:21,720 Speaker 1: none of those were going to have the same urgency 419 00:26:22,160 --> 00:26:25,560 Speaker 1: that we had to make these treatments, and other families 420 00:26:25,600 --> 00:26:28,840 Speaker 1: needed a place to go, so we spent out this lab. 421 00:26:29,359 --> 00:26:32,760 Speaker 4: Starting their own lab from scratch would be no easy feat. 422 00:26:33,200 --> 00:26:37,439 Speaker 4: With their funds already depleted from their unsuccessful partnership with 423 00:26:37,480 --> 00:26:42,359 Speaker 4: the contract research organization, Casey and Rodney needed to raise money, 424 00:26:42,560 --> 00:26:47,920 Speaker 4: and lots of it. So Casey, the ultimate creative, got resourceful. 425 00:26:49,080 --> 00:26:54,560 Speaker 1: So you know, I started with forming a foundation, Alpharo's Therapeutics, 426 00:26:54,680 --> 00:26:58,800 Speaker 1: to initially try to fund that work. The foundation's basically 427 00:26:58,880 --> 00:27:02,200 Speaker 1: funded by fans of my band, people from my church, 428 00:27:02,359 --> 00:27:06,679 Speaker 1: people that latched onto Rose's story. We launched Rosefest and 429 00:27:06,760 --> 00:27:09,280 Speaker 1: so we would raise money with rock and roll shows 430 00:27:09,600 --> 00:27:14,199 Speaker 1: and then eventually a golf tournament at Pinehurst, eventually a 431 00:27:14,359 --> 00:27:18,200 Speaker 1: Rose Gala at the Barton Creek. And that money went 432 00:27:18,280 --> 00:27:22,399 Speaker 1: towards paying for the science to develop a treatment for Rose. 433 00:27:23,480 --> 00:27:27,040 Speaker 1: It also went to, you know, gathering that community up 434 00:27:27,080 --> 00:27:30,399 Speaker 1: so that we could figure out how to create a 435 00:27:30,440 --> 00:27:31,680 Speaker 1: sustainable model. 436 00:27:33,720 --> 00:27:36,439 Speaker 4: The further Casey got down the path to funding a 437 00:27:36,480 --> 00:27:40,080 Speaker 4: treatment for Rosie, the more he recognized that his family 438 00:27:40,320 --> 00:27:42,920 Speaker 4: was not alone in their desperate need for ultra rare 439 00:27:43,000 --> 00:27:44,040 Speaker 4: condition treatments. 440 00:27:45,480 --> 00:27:48,560 Speaker 1: So what I realized was that it'll cost me a 441 00:27:48,600 --> 00:27:52,520 Speaker 1: million bucks of safety tests and things to treat Rose. 442 00:27:52,680 --> 00:27:56,280 Speaker 1: But to commercialize this medicine will cost between ten and 443 00:27:56,400 --> 00:27:59,200 Speaker 1: twenty million because it has to go through a proper 444 00:27:59,240 --> 00:28:02,879 Speaker 1: commercial LEFTI a clinical trial. But if I only treat Rose, 445 00:28:03,280 --> 00:28:06,160 Speaker 1: what about the kids in Australia, What about the kids 446 00:28:06,160 --> 00:28:08,840 Speaker 1: in France? What about the kids in South America that 447 00:28:08,960 --> 00:28:12,720 Speaker 1: have this disease? I either could raise just enough money 448 00:28:12,720 --> 00:28:14,919 Speaker 1: to treat Rose and it would be stuck in a 449 00:28:14,960 --> 00:28:19,520 Speaker 1: perpetual clinical trial forever, or create a system that once 450 00:28:19,560 --> 00:28:23,959 Speaker 1: we treated Rose, we would have some sustainable way of 451 00:28:24,000 --> 00:28:25,879 Speaker 1: doing this. So parents didn't have to pay for this 452 00:28:25,960 --> 00:28:26,760 Speaker 1: crap anymore. 453 00:28:27,359 --> 00:28:30,760 Speaker 4: It was then that Casey and Rodney's mission grew beyond 454 00:28:31,119 --> 00:28:35,199 Speaker 4: just saving Rose, but expanded to building a future model 455 00:28:35,520 --> 00:28:40,200 Speaker 4: for all families needing a treatment to save their loved one. 456 00:28:40,400 --> 00:28:43,920 Speaker 1: It iterated from can I save my daughter? To now 457 00:28:43,920 --> 00:28:47,080 Speaker 1: it's can I fix the system? So now you know, 458 00:28:47,400 --> 00:28:50,000 Speaker 1: the families get to own all their intellectual property. We 459 00:28:50,080 --> 00:28:51,959 Speaker 1: have a lab we can build these treatments in. 460 00:28:52,600 --> 00:28:55,240 Speaker 4: Now that you have your lab set up, how do 461 00:28:55,320 --> 00:28:56,920 Speaker 4: you approach finding a treatment? 462 00:28:57,840 --> 00:28:59,640 Speaker 1: We start with blood. 463 00:29:00,280 --> 00:29:04,720 Speaker 3: The blood is a mixture of a thousand different cell lines, 464 00:29:05,000 --> 00:29:08,720 Speaker 3: and we pull out a monocyte. A monocyte is an 465 00:29:08,720 --> 00:29:12,800 Speaker 3: immune cell that retains the ability to do multiple things, 466 00:29:13,440 --> 00:29:17,240 Speaker 3: and to that we add four genes that create a 467 00:29:17,320 --> 00:29:22,720 Speaker 3: stem cell. We finally grew up and differentiated some neurons 468 00:29:22,920 --> 00:29:28,640 Speaker 3: from rosy stem cells and added ASOS antisense. Oligos started 469 00:29:28,680 --> 00:29:32,160 Speaker 3: with fifty five and ran attack Man assay. Attack Man 470 00:29:32,200 --> 00:29:36,120 Speaker 3: assay allows you to measure specifically an RNA that you're 471 00:29:36,120 --> 00:29:39,760 Speaker 3: looking for, and in seven of our fifty five asos 472 00:29:39,840 --> 00:29:43,680 Speaker 3: we saw it significant progress and that was that was 473 00:29:43,720 --> 00:29:47,600 Speaker 3: an amazing moment. We had an embarrassment of riches to 474 00:29:47,720 --> 00:29:50,080 Speaker 3: have seven. I couldn't wait to tell Casey. 475 00:29:50,920 --> 00:29:53,640 Speaker 4: So of course, if this were a Hollywood movie, he 476 00:29:53,720 --> 00:29:56,080 Speaker 4: would come in, you would tell him the good news, 477 00:29:56,480 --> 00:29:58,920 Speaker 4: and then you guys would run and get rosy. But 478 00:29:59,040 --> 00:30:00,200 Speaker 4: what's the reality. 479 00:30:00,400 --> 00:30:04,080 Speaker 3: The reality is, we did a pre clinical rat study. 480 00:30:04,240 --> 00:30:08,520 Speaker 3: This rat study will ultimately go to the FDA as 481 00:30:08,840 --> 00:30:13,760 Speaker 3: proof of safety lack of toxicity of our drug for rosie. 482 00:30:13,840 --> 00:30:17,520 Speaker 3: In parallel, we have an h n R NPH two 483 00:30:17,720 --> 00:30:22,280 Speaker 3: natural history study going on looking for scientifically measurable ways 484 00:30:22,600 --> 00:30:26,680 Speaker 3: to demonstrate that the ASO is in fact working. Does 485 00:30:26,680 --> 00:30:29,760 Speaker 3: this affect her walking gate? Is the child seeing any 486 00:30:29,800 --> 00:30:34,280 Speaker 3: benefit of the drug? Next we write up an investigational 487 00:30:34,320 --> 00:30:38,040 Speaker 3: new drug and hopefully in the coming year, began a 488 00:30:38,080 --> 00:30:41,680 Speaker 3: clinical trial to see this drug released into the US 489 00:30:42,040 --> 00:30:45,080 Speaker 3: for five hundred give or take patients in the US 490 00:30:45,120 --> 00:30:47,120 Speaker 3: and likely five thousand in the world. 491 00:30:47,200 --> 00:30:49,760 Speaker 1: We're very excited. We found a hospital that we can 492 00:30:49,800 --> 00:30:52,440 Speaker 1: treat her and some other children in and we're setting 493 00:30:52,520 --> 00:30:56,239 Speaker 1: up a proper clinical trial to attempt to get it 494 00:30:56,280 --> 00:30:59,440 Speaker 1: approved by the FDA so we can create you know, 495 00:30:59,720 --> 00:31:01,600 Speaker 1: gloe Moble access for the drug. 496 00:31:02,440 --> 00:31:05,560 Speaker 4: You have gone from record label rock star to running 497 00:31:05,560 --> 00:31:09,120 Speaker 4: a biotech company to being a thought leader in the 498 00:31:09,200 --> 00:31:10,440 Speaker 4: drug development space. 499 00:31:11,200 --> 00:31:12,360 Speaker 1: How have people in. 500 00:31:12,320 --> 00:31:13,800 Speaker 4: Your life reacted to that. 501 00:31:14,600 --> 00:31:16,480 Speaker 1: There's a lot of folks that have said, stay in 502 00:31:16,520 --> 00:31:19,040 Speaker 1: your lane. You know, you're just a parent, be a 503 00:31:19,080 --> 00:31:21,680 Speaker 1: patient advocate. Why do you have to be screwing around 504 00:31:21,760 --> 00:31:24,160 Speaker 1: with this stuff? This is our job? And my answer 505 00:31:24,200 --> 00:31:25,959 Speaker 1: has been simple, is like I would have loved it 506 00:31:26,000 --> 00:31:28,440 Speaker 1: to be your job. I never wanted to quit my 507 00:31:28,560 --> 00:31:31,440 Speaker 1: music career, but here we are because someone didn't do 508 00:31:31,480 --> 00:31:34,040 Speaker 1: their job, you know, and I'm going to do it 509 00:31:34,320 --> 00:31:36,840 Speaker 1: until somebody else does it better than me. I would 510 00:31:36,880 --> 00:31:39,640 Speaker 1: be more than happy for someone to take over and 511 00:31:39,720 --> 00:31:43,960 Speaker 1: fix this problem. I'm not trying to fix it because 512 00:31:44,000 --> 00:31:46,800 Speaker 1: I think I'm some special person. I'm just trying to 513 00:31:46,800 --> 00:31:49,160 Speaker 1: fix it because no one has yet. I had to 514 00:31:49,200 --> 00:31:51,959 Speaker 1: go learn science. I had to go learn fundraising. I 515 00:31:51,960 --> 00:31:54,160 Speaker 1: had to go learn drug development. I had to go 516 00:31:54,240 --> 00:31:57,680 Speaker 1: learn self discipline. I had to go learn networking. I 517 00:31:57,720 --> 00:32:01,520 Speaker 1: had to go learn how to project estimates and revenue 518 00:32:01,600 --> 00:32:04,880 Speaker 1: and expenses. We've worked with over twenty two families. We're 519 00:32:04,960 --> 00:32:08,520 Speaker 1: running like eighteen programs. We've made eight new drugs already. 520 00:32:09,160 --> 00:32:11,880 Speaker 1: Some of those patients are already their doctors are prescribing 521 00:32:11,880 --> 00:32:15,120 Speaker 1: those medicines that we've discovered. I did every single one 522 00:32:15,160 --> 00:32:16,120 Speaker 1: of those things for Rose. 523 00:32:18,960 --> 00:32:23,040 Speaker 3: The Casey that I met in twenty nineteen had never 524 00:32:23,080 --> 00:32:27,040 Speaker 3: passed high school biology, and now he knows the language. 525 00:32:27,640 --> 00:32:32,720 Speaker 3: He's running a pharmaceutical company and is using those connections 526 00:32:32,760 --> 00:32:36,360 Speaker 3: and that charisma to cure not only his daughter, but 527 00:32:36,480 --> 00:32:39,640 Speaker 3: create a pathway for everyone with rare disease. 528 00:32:41,360 --> 00:32:46,360 Speaker 4: That compassionate, forward thinking leadership harnessed by Casey has resulted 529 00:32:46,400 --> 00:32:50,240 Speaker 4: in incredible strides, and only a few years they've already 530 00:32:50,240 --> 00:32:52,959 Speaker 4: created a pre clinical treatment for Rose. 531 00:32:54,840 --> 00:32:57,200 Speaker 1: You know, I hope Rose will outlive me, but she 532 00:32:57,280 --> 00:33:01,200 Speaker 1: may not. At any case, even as late as we are. 533 00:33:01,200 --> 00:33:03,360 Speaker 1: She's nine. Now when I treat her, she's not going 534 00:33:03,440 --> 00:33:05,600 Speaker 1: to gain all of her abilities back. She might be 535 00:33:05,600 --> 00:33:08,760 Speaker 1: able to talk again, you know, if we're treating her 536 00:33:08,800 --> 00:33:12,160 Speaker 1: at eighteen months, potentially she could grow completely normal with 537 00:33:12,200 --> 00:33:15,400 Speaker 1: a drug like this, but at this point she won't. 538 00:33:15,680 --> 00:33:19,480 Speaker 1: And so you know, we're not going to stop doing 539 00:33:19,520 --> 00:33:22,160 Speaker 1: all of this, Rosie and I aren't because we're always 540 00:33:22,200 --> 00:33:23,680 Speaker 1: going to be in it. We're always going to be 541 00:33:23,720 --> 00:33:26,640 Speaker 1: fighting for this, and I just think if we can 542 00:33:26,840 --> 00:33:30,120 Speaker 1: save the next family that comes along. You know that 543 00:33:30,200 --> 00:33:33,360 Speaker 1: it's going to make roses suffering and my family's suffering 544 00:33:33,880 --> 00:33:37,520 Speaker 1: have that much more value. We can almost wear it 545 00:33:37,560 --> 00:33:39,280 Speaker 1: with some pride in that way. 546 00:33:40,640 --> 00:33:45,280 Speaker 4: What do you think actually drives your father at the 547 00:33:45,400 --> 00:33:46,200 Speaker 4: end of the day. 548 00:33:46,960 --> 00:33:50,000 Speaker 2: I think what pushes my dad the most to do 549 00:33:50,040 --> 00:33:55,040 Speaker 2: all this is being able to first help these kids 550 00:33:55,280 --> 00:33:59,400 Speaker 2: and do these amazing things, but also being able to 551 00:33:59,440 --> 00:34:02,600 Speaker 2: hear Rosie speak for the first time and knowing the 552 00:34:02,640 --> 00:34:04,800 Speaker 2: emotion she's felt. I feel like it's going to be 553 00:34:04,880 --> 00:34:06,800 Speaker 2: so happy whenever I get to hear a voice for 554 00:34:06,880 --> 00:34:07,560 Speaker 2: the first time. 555 00:34:08,200 --> 00:34:10,520 Speaker 1: I would like to be able to treat her next year, 556 00:34:11,000 --> 00:34:13,560 Speaker 1: and I would like to see her be able to 557 00:34:13,560 --> 00:34:16,719 Speaker 1: say daddy again. I would like to see her run 558 00:34:16,760 --> 00:34:19,360 Speaker 1: in the park and maybe learn how to play with 559 00:34:19,440 --> 00:34:23,160 Speaker 1: a friend, you know, maybe learn how to acquire a 560 00:34:23,239 --> 00:34:26,160 Speaker 1: skill or a hobby or something that's fun for her 561 00:34:26,280 --> 00:34:26,680 Speaker 1: to do. 562 00:34:28,160 --> 00:34:31,720 Speaker 2: People like sometimes they're like, oh, well, if Rosie didn't 563 00:34:31,719 --> 00:34:34,000 Speaker 2: have this condition, you'd be able to talk to her. 564 00:34:34,120 --> 00:34:37,759 Speaker 2: But sometimes it helps me remember that, like, if she 565 00:34:37,840 --> 00:34:40,920 Speaker 2: didn't have the condition, then we wouldn't have helped all 566 00:34:40,960 --> 00:34:41,680 Speaker 2: these kids. 567 00:34:55,480 --> 00:34:55,840 Speaker 1: Rose. 568 00:34:56,320 --> 00:34:59,320 Speaker 4: The reason for all of this the daughter that inspired 569 00:34:59,400 --> 00:35:03,120 Speaker 4: Casey to just rucked an industry and create positive change. 570 00:35:03,840 --> 00:35:07,719 Speaker 4: Rosie touches their lives every single day and reminds them 571 00:35:07,920 --> 00:35:08,920 Speaker 4: why they are doing it. 572 00:35:09,760 --> 00:35:14,239 Speaker 1: How is Rose doing today? She is happy. We've got 573 00:35:14,239 --> 00:35:18,040 Speaker 1: her seizures under control. We worry about that, but she 574 00:35:18,239 --> 00:35:21,640 Speaker 1: is in a pretty happy space in her life, which 575 00:35:21,680 --> 00:35:24,480 Speaker 1: is great. After this podcast, I'll go snuggle with her 576 00:35:24,520 --> 00:35:27,320 Speaker 1: in bed and I can tickle her and she'll giggle, 577 00:35:27,440 --> 00:35:29,719 Speaker 1: and she'll let me kiss her on the cheek, and 578 00:35:30,160 --> 00:35:32,640 Speaker 1: you know, I can interact with her. She'll let me 579 00:35:32,680 --> 00:35:35,040 Speaker 1: snuggle with her, which is just amazing. Like it's my 580 00:35:35,120 --> 00:35:37,560 Speaker 1: favorite part of the day. 581 00:35:38,440 --> 00:35:42,640 Speaker 2: I'm just so proud of my parents and my sister 582 00:35:43,280 --> 00:35:46,480 Speaker 2: for pushing through all of this. And even though it 583 00:35:46,560 --> 00:35:49,520 Speaker 2: has taken its toll on all of us and like 584 00:35:49,800 --> 00:35:52,520 Speaker 2: been a really hard obstacle, I think it's kind of 585 00:35:52,560 --> 00:35:54,840 Speaker 2: shaped us into the people we want to be or 586 00:35:54,880 --> 00:35:55,880 Speaker 2: the people we are now. 587 00:35:57,920 --> 00:36:00,520 Speaker 4: Is there anything else you want to add, just in 588 00:36:00,600 --> 00:36:03,600 Speaker 4: terms of what message you want listeners to take away. 589 00:36:04,320 --> 00:36:07,280 Speaker 3: How easy would it have been for Casey to claim 590 00:36:07,360 --> 00:36:11,160 Speaker 3: victimhood and crawled under a rock and hold his daughter 591 00:36:11,200 --> 00:36:14,920 Speaker 3: and cry, And that's not what he did. He has fought, 592 00:36:15,360 --> 00:36:19,759 Speaker 3: and as we've struggled, he's continued to fight, and he's invented, 593 00:36:19,920 --> 00:36:25,160 Speaker 3: literally invented new ways to fight. And his fight has 594 00:36:25,200 --> 00:36:29,400 Speaker 3: already helped others, and the team that he's building around 595 00:36:29,520 --> 00:36:33,680 Speaker 3: him will continue to find ways invent ways to help others. 596 00:36:34,160 --> 00:36:36,680 Speaker 3: This is the way we're going to beat rare disease. 597 00:36:41,360 --> 00:36:45,240 Speaker 1: Cuzy New. 598 00:36:48,840 --> 00:36:53,400 Speaker 2: Sweet can switch subrain on. 599 00:36:58,560 --> 00:37:12,160 Speaker 1: We'll talk well, key walk oh. Because you know, there 600 00:37:12,320 --> 00:37:15,480 Speaker 1: was sort of a death of my career and one 601 00:37:15,480 --> 00:37:18,280 Speaker 1: of the things that I noticed was that Rose really 602 00:37:18,520 --> 00:37:21,919 Speaker 1: could regulate her mood with music, and so every night, 603 00:37:22,160 --> 00:37:24,640 Speaker 1: I would, you know, sing to her. Well, I sing 604 00:37:24,680 --> 00:37:27,520 Speaker 1: to her every day when she gets really irritated, because 605 00:37:27,560 --> 00:37:30,320 Speaker 1: it makes it calms her down. You know, I don't 606 00:37:30,320 --> 00:37:34,480 Speaker 1: really play publicly much anymore unless it's for fundraisers and stuff, 607 00:37:34,520 --> 00:37:38,640 Speaker 1: but I do for Rosie, you know, and that's strangely 608 00:37:38,960 --> 00:37:43,880 Speaker 1: totally enough for me. Last thing I would say is 609 00:37:43,920 --> 00:37:47,719 Speaker 1: that we live in this incredible time of technology. This 610 00:37:47,760 --> 00:37:50,279 Speaker 1: is more of a civil rights issue than anything. We 611 00:37:50,400 --> 00:37:53,359 Speaker 1: have the technology to treat many of these diseases, but 612 00:37:53,400 --> 00:37:56,640 Speaker 1: we don't have the systems and business models and support 613 00:37:56,960 --> 00:37:59,120 Speaker 1: to do it at any sort of scale yet, And 614 00:37:59,600 --> 00:38:02,440 Speaker 1: as we're building that, I think it's important that families 615 00:38:02,680 --> 00:38:07,440 Speaker 1: take courage, have the couraged hope, because to have hope 616 00:38:07,840 --> 00:38:11,879 Speaker 1: means you think that maybe something could change, and that's 617 00:38:11,920 --> 00:38:16,400 Speaker 1: a scary thought when you're trying to accept the reality 618 00:38:16,600 --> 00:38:19,080 Speaker 1: of what you're in. And I think it's okay to 619 00:38:19,239 --> 00:38:22,879 Speaker 1: completely love your child and accept the reality you're in 620 00:38:23,280 --> 00:38:27,520 Speaker 1: and at the same time not stand for it. I 621 00:38:27,520 --> 00:38:28,640 Speaker 1: think that's okay. 622 00:38:40,640 --> 00:38:44,600 Speaker 4: You can learn more about Alpha Rose at www dot 623 00:38:44,640 --> 00:38:49,760 Speaker 4: Alpha Rose dot com, to Curos Foundation at www dot 624 00:38:49,880 --> 00:38:56,960 Speaker 4: Decurros dot org and TCR Rare Labs at tcrrare Labs 625 00:38:57,000 --> 00:39:00,200 Speaker 4: dot org, and you can follow Casey at k see 626 00:39:00,239 --> 00:39:06,919 Speaker 4: McPherson on Instagram. Coming up on next week's episode of Symptomatic, 627 00:39:07,280 --> 00:39:11,120 Speaker 4: what started as intermittent rashes that popped up years apart 628 00:39:11,600 --> 00:39:16,160 Speaker 4: turned into excruciating, long term flare ups with no reprieve. 629 00:39:16,600 --> 00:39:19,880 Speaker 5: For Kristin Willard, it feels to me as if someone 630 00:39:19,960 --> 00:39:23,120 Speaker 5: has removed all my skin down to like the muscle 631 00:39:23,400 --> 00:39:26,640 Speaker 5: and then covered me in a bull blanket. 632 00:39:27,000 --> 00:39:31,560 Speaker 4: Unable to sleep, shower, or even put on pants. Kristen's 633 00:39:31,640 --> 00:39:34,960 Speaker 4: quality of life had plummeted, and she could find no 634 00:39:35,160 --> 00:39:39,400 Speaker 4: common trigger to explain the debilitating flares she was forced 635 00:39:39,400 --> 00:39:45,080 Speaker 4: to endure for months on end. As always, we would 636 00:39:45,160 --> 00:39:47,600 Speaker 4: love to hear from you. Send us your thoughts on 637 00:39:47,640 --> 00:39:50,479 Speaker 4: this episode, or share a medical mystery of your own 638 00:39:50,600 --> 00:39:55,600 Speaker 4: at Symptomatic at iHeartMedia dot com, and please rate and 639 00:39:55,640 --> 00:39:59,560 Speaker 4: review Symptomatic wherever you get your podcasts. We'll see you 640 00:39:59,600 --> 00:40:04,920 Speaker 4: next time, and until then, be well. Symptomatic a medical 641 00:40:04,960 --> 00:40:11,000 Speaker 4: mystery podcast, is a production of iHeartMedia's Ruby Studio. Our 642 00:40:11,040 --> 00:40:14,719 Speaker 4: show is hosted by me Lauren Bright Pacheco. Our executive 643 00:40:14,719 --> 00:40:19,759 Speaker 4: producers are James Foster, Matt Romano, and myself. Our supervising 644 00:40:19,800 --> 00:40:25,200 Speaker 4: producers are Ryan Ovadia, Haley Aliah Ericsson, and Daniel Ainsworth. 645 00:40:25,920 --> 00:40:30,280 Speaker 4: This episode was written by Haley Aliah Erickson and edited 646 00:40:30,440 --> 00:40:32,000 Speaker 4: by Samuel Richardson.