WEBVTT - Case #30: Rose & Casey 0:00:03.360 --> 0:00:10.719 Ruby. She was screaming uncontrollably, like she was in pain 0:00:11.080 --> 0:00:14.920 and confused and angry. You could just see on her face. 0:00:15.040 --> 0:00:18.000 It was very, very clear that something was going very wrong. 0:00:18.600 --> 0:00:21.119 When Rosie's thing was more of a new thing to 0:00:21.440 --> 0:00:24.840 all of us, I kind of more focused on the 0:00:24.960 --> 0:00:25.840 bad parts of it. 0:00:26.120 --> 0:00:28.159 I Am not going to be okay if we're too 0:00:28.240 --> 0:00:30.680 late to help Rosie. It has to be Rosie. We 0:00:30.800 --> 0:00:32.600 have to get it done in time. For Rosie. 0:00:32.920 --> 0:00:37.040 There's really nothing we can do casing, you know, rather 0:00:37.159 --> 0:00:39.360 than make her comfortable good luck. 0:00:40.000 --> 0:00:43.720 How terrifying would it be to fight an unknown enemy, 0:00:44.440 --> 0:00:48.600 one you didn't recognize and didn't see coming. What if 0:00:48.640 --> 0:00:51.920 that enemy was coming from within a disease that even 0:00:52.040 --> 0:00:56.360 doctors couldn't identify. Nearly half of Americans suffered from some 0:00:56.560 --> 0:01:00.760 chronic illness, and many struggle for an accurate dify diagnosis. 0:01:01.280 --> 0:01:05.600 These are their stories. I'm Lauren Bray Pacheco, and this 0:01:05.959 --> 0:01:13.280 is symptomatic. Before Casey McPherson became a father, he was 0:01:13.400 --> 0:01:17.959 a rock star as the front man of Indecentsation Flying Colors. 0:01:18.240 --> 0:01:20.160 He was used to life on the road. 0:01:21.319 --> 0:01:24.480 I was touring all the time in a band. I 0:01:24.600 --> 0:01:27.600 would be on tour for three weeks, six weeks, come 0:01:27.680 --> 0:01:30.200 home for a few weeks. You know, you sort of 0:01:30.280 --> 0:01:33.320 arrange your life however you saw fit. 0:01:34.440 --> 0:01:39.000 You found incredible success as a musician, but it was 0:01:39.200 --> 0:01:42.360 really hard earned. Tell me a little bit about the 0:01:42.400 --> 0:01:44.280 early days when you first started out. 0:01:45.240 --> 0:01:48.520 I'd spent over a decade living under the poverty line, 0:01:48.560 --> 0:01:52.200 printing CDs in my house and playing to bartenders, you know, 0:01:52.280 --> 0:01:54.600 touring in broken down vans. I can't tell you how 0:01:54.600 --> 0:01:56.400 many times we broke down or the van caught on 0:01:56.480 --> 0:01:59.520 fire or whatever. I remember one place we played said 0:01:59.520 --> 0:02:01.480 we drank more than they were going to pay us, 0:02:01.520 --> 0:02:04.400 so we owed them money. And I just remember thinking, like, 0:02:04.520 --> 0:02:07.440 this is my life, you know. And so there was 0:02:07.480 --> 0:02:10.640 a degree of grit. As you know, for artists, there's 0:02:10.639 --> 0:02:14.480 an incredible amount of devotion you have to your craft. 0:02:14.680 --> 0:02:16.800 I didn't think anything could ever take me out of 0:02:16.800 --> 0:02:19.720 the music business. I had a songwriting out of making records. 0:02:19.760 --> 0:02:22.639 I never thought I would be doing anything else besides that. 0:02:23.680 --> 0:02:27.800 And then you became a father. What was the experience 0:02:27.800 --> 0:02:30.560 of becoming a parent for the first time, like. 0:02:30.560 --> 0:02:35.520 For you, I was in my mid thirties when I 0:02:35.800 --> 0:02:39.280 had my first daughter, Weston, And I'll never forget that 0:02:39.400 --> 0:02:43.640 day because I was already singing to her, you know, 0:02:43.840 --> 0:02:47.760 in the womb, and when she came out, I knew 0:02:47.800 --> 0:02:52.520 that there was nothing I wouldn't do for her, and 0:02:52.560 --> 0:02:56.640 that my life was not my own anymore. I just knew. 0:02:57.040 --> 0:03:00.400 I knew in that moment the meaning of unconditional love. 0:03:02.400 --> 0:03:05.280 And how long after Wes was born was your second 0:03:05.360 --> 0:03:05.920 daughter born. 0:03:06.600 --> 0:03:09.399 I think a little under two years that the point 0:03:09.520 --> 0:03:12.079 Rose was born, I had a major label record deal, 0:03:12.120 --> 0:03:14.079 I had a couple of top ten hits on the radio. 0:03:14.200 --> 0:03:18.240 I was touring the world. I'll never forget when Rose 0:03:18.320 --> 0:03:21.720 was born. She had the umbilical cord wrapped around her neck, 0:03:21.840 --> 0:03:25.880 and you know, it was very scary. I remember holding 0:03:26.160 --> 0:03:30.280 this tiny, tiny little girl in my hands and thinking 0:03:30.440 --> 0:03:35.120 that my charge now was to keep these little ladies alive, 0:03:35.360 --> 0:03:38.960 help make them strong and independent, and you know, accomplish 0:03:39.040 --> 0:03:39.720 their dreams. 0:03:41.480 --> 0:03:44.960 Very quickly, Casey and his family began to have concerns 0:03:45.040 --> 0:03:50.520 about regression in Rose's development. When looking back, is the 0:03:50.560 --> 0:03:55.400 first time that something stuck out to you as maybe 0:03:55.680 --> 0:03:58.600 an issue in terms of Rose's health? 0:03:59.120 --> 0:04:04.080 About eighteen months I wasn't really convinced until she lost 0:04:04.080 --> 0:04:07.839 her ability to speak, she was learning language. She first 0:04:07.920 --> 0:04:10.800 learned a sign, which was normal at her age, and 0:04:10.840 --> 0:04:14.200 then she started saying words like mom, dad, and outside. 0:04:14.520 --> 0:04:17.479 She point to the door and say outside, and we'd 0:04:17.480 --> 0:04:21.240 go outside. But when she stopped talking, it was that 0:04:21.279 --> 0:04:25.359 sort of deterioration of language was when I knew this 0:04:25.720 --> 0:04:51.800 was not okay. I have the girls, So she's in 0:04:51.839 --> 0:04:54.880 the other room. You maybe can hear squeak and squeal 0:04:54.960 --> 0:04:55.919 every now and then. 0:04:56.640 --> 0:05:03.520 Today Rosie is nonverbal through sounds and physical cues. Throughout 0:05:03.520 --> 0:05:06.680 the episode, we will rely on those closest to her 0:05:06.720 --> 0:05:11.480 to share her experience. Though Rose no longer communicates with words, 0:05:11.920 --> 0:05:16.080 she is full of personality. Here's her older sister, Weston. 0:05:16.560 --> 0:05:18.320 She loves animals. 0:05:18.560 --> 0:05:21.440 She looks like super shy and like scared, but once 0:05:21.440 --> 0:05:23.680 she gets to know her, she's a little bit like 0:05:24.279 --> 0:05:27.760 spicy and like a little bit sassy, but she's super 0:05:27.760 --> 0:05:31.000 happy all the time whenever she loves. It's one of 0:05:31.080 --> 0:05:34.599 the strongest emotions I get from her because that's one 0:05:34.640 --> 0:05:36.960 of the only times you know what she's feeling. 0:05:38.560 --> 0:05:44.640 What would you say is her absolute favorite food? 0:05:45.760 --> 0:05:51.320 I think her favorite food is probably pasta. Her favorite 0:05:51.400 --> 0:05:54.800 drink is definitely doctor pepper. She's stolen my dad's Doctor 0:05:54.800 --> 0:05:56.200 Pepper millions sometimes. 0:05:56.800 --> 0:05:59.440 What are some of your favorite things to do with Rosie? 0:06:00.120 --> 0:06:04.080 I love listening to music with her. I think she's 0:06:04.279 --> 0:06:07.760 always been someone who loves music too, whether it's like 0:06:08.200 --> 0:06:11.880 watching TV or like listening to my dad play. I 0:06:11.920 --> 0:06:15.880 think she just really enjoys like the sound of music 0:06:15.920 --> 0:06:18.479 and like the feelings that come with it. I'm so 0:06:18.640 --> 0:06:21.159 lucky to have her as my sister, because even though 0:06:21.160 --> 0:06:23.680 she can't talk, she's just one of the most amazing 0:06:23.720 --> 0:06:39.440 people I've ever met. It beautiful. 0:06:43.000 --> 0:06:47.960 Did you notice any difference initially between Wes as a 0:06:48.000 --> 0:06:50.040 baby and Rose as a baby. 0:06:50.680 --> 0:06:54.480 You know, other than personality, not really. You know, at 0:06:54.520 --> 0:06:59.719 some point Rose was beginning to experience some issues. You know, 0:06:59.760 --> 0:07:01.960 she was having trouble going to the bathroom so I'd 0:07:02.000 --> 0:07:05.839 have to give her enemas, and she would struggle with 0:07:05.920 --> 0:07:09.480 eating solids. But for the most part, doctors told us, 0:07:09.520 --> 0:07:13.000 you know, that's normal. Kids kind of developed, their systems 0:07:13.000 --> 0:07:16.920 are getting started in different ways in different times. She 0:07:17.600 --> 0:07:20.360 didn't want to walk, and then when she would try 0:07:20.400 --> 0:07:23.800 to walk instead of falling on her hands, she would 0:07:23.880 --> 0:07:26.120 fall flat on her face without putting her hands in 0:07:26.120 --> 0:07:29.160 front of her, So there was this kind of gross 0:07:29.200 --> 0:07:34.320 motor lack of response. She was also screaming uncontrollably, like 0:07:34.360 --> 0:07:38.000 she was in pain all the time and confused and angry. 0:07:38.280 --> 0:07:40.720 You know, you could just see on her face. This 0:07:40.920 --> 0:07:44.840 wasn't like I'm tired or I need milk or you know, 0:07:44.960 --> 0:07:47.920 it was very very clear that something was going very wrong. 0:07:48.400 --> 0:07:51.640 What did our doctors say when you voiced your concerns? 0:07:51.680 --> 0:07:56.120 Did they run any tests or give you any answers. 0:07:57.240 --> 0:08:01.800 So, because our healthcare is some runs off of what 0:08:01.920 --> 0:08:06.440 insurance will cover, they have a process, and the process 0:08:06.520 --> 0:08:10.080 maybe differs from hospital to hospital, but it's relatively the same. 0:08:10.200 --> 0:08:11.840 So they'll say, you know what, We're going to run 0:08:11.880 --> 0:08:16.520 a panel and it tests for diseases that currently have treatments. 0:08:16.760 --> 0:08:20.360 It doesn't test for diseases that don't. And keep in mind, 0:08:20.640 --> 0:08:23.760 there's over ten thousand rare diseases and only five percent 0:08:23.800 --> 0:08:27.000 of them have any treatments, so you can imagine how 0:08:27.000 --> 0:08:29.240 many are left out on these panels. 0:08:29.560 --> 0:08:33.559 The panel tests come back showing nothing to indicate an 0:08:33.559 --> 0:08:38.160 abnormality that could be contributing to Rose's decline. With no 0:08:38.360 --> 0:08:41.880 clear pathway laid out by Roses doctors, Casey takes it 0:08:41.960 --> 0:08:44.840 upon himself to research what needs to be done next. 0:08:45.520 --> 0:08:48.319 Her mom and I had started kind of doing some research, 0:08:48.400 --> 0:08:52.400 and we knew enough about neurodevelopment to know that it's 0:08:52.520 --> 0:08:56.520 often caused by genetic mutations. It was clear that she 0:08:56.720 --> 0:09:01.360 was having trouble with balance and losing her words. She 0:09:01.440 --> 0:09:04.480 struggled with feeding herself. When you know kids at that 0:09:04.559 --> 0:09:07.440 point were sort of getting better at that you know, 0:09:07.559 --> 0:09:10.880 it was severely missing milestones at this point. In order 0:09:10.920 --> 0:09:15.000 to find a genetic mutation, you needed genetic sequencing done, 0:09:15.040 --> 0:09:18.080 and at the time, the only one we could afford 0:09:18.440 --> 0:09:21.960 was a whole exome sequence because it was ten thousand dollars. 0:09:22.080 --> 0:09:24.319 Keep in mind it's two hundred and fifty dollars now. 0:09:24.880 --> 0:09:28.560 They sent some boxes to us of swabs and I 0:09:28.600 --> 0:09:32.600 had to swab me, swab Mom, swab Weston, swab Rose 0:09:32.679 --> 0:09:35.880 and send those back and I think that took a 0:09:35.920 --> 0:09:37.959 few months or four months to get all of that. 0:09:39.080 --> 0:09:42.559 The stress of waiting for answers while watching Rose's health 0:09:42.559 --> 0:09:46.280 get worse weigh heavily on Casey and his family as 0:09:46.280 --> 0:09:49.840 they await a prognosis, Casey and his wife split up. 0:09:52.480 --> 0:09:57.080 Can you give us an example of just how serious 0:09:57.160 --> 0:09:58.000 things were getting? 0:09:58.559 --> 0:10:01.840 Yeah, you know, she died from her first seizure for 0:10:02.000 --> 0:10:04.640 a couple of minutes when mom had to bring her back. 0:10:06.160 --> 0:10:12.839 That must have been terrifying for everyone, almost losing Rosie, 0:10:12.880 --> 0:10:16.760 but also still having to wait for answers as to 0:10:17.000 --> 0:10:20.840 what was causing all of this. What was that like 0:10:20.920 --> 0:10:24.800 for you as a father? How did you handle that? 0:10:26.400 --> 0:10:30.920 I was trying to keep everybody calm, and as so 0:10:31.040 --> 0:10:33.640 many ways, I was minimizing, like, hey, it's going to 0:10:33.679 --> 0:10:37.000 be okay, She's going to get through this. And you know, 0:10:37.080 --> 0:10:44.360 I think anytime you experience unimaginable loss or devastation, there's 0:10:44.520 --> 0:10:48.640 sort of a level of unbelief or disbelief, and I 0:10:48.640 --> 0:10:51.040 think I sort of had that. So I was doing 0:10:51.080 --> 0:10:53.320 the work to try to get to an answer, but 0:10:53.480 --> 0:10:55.600 also didn't really think it was going. 0:10:55.520 --> 0:10:56.400 To be this bad. 0:10:56.880 --> 0:11:03.520 And then they emailed us a report, and that's when 0:11:03.559 --> 0:11:07.720 I had to schedule another pediatric neurologist appointment so that 0:11:07.800 --> 0:11:10.800 he could tell me what I was looking at. I 0:11:10.960 --> 0:11:14.280 remember I had both girls, I was alone with them. 0:11:14.679 --> 0:11:17.520 I held both their hands, walked them across the parking 0:11:17.559 --> 0:11:23.280 lot into the elevator. Rose cannot handle elevators. She was screaming, 0:11:23.800 --> 0:11:26.880 makes west and cry, then finally calling my name, going 0:11:26.920 --> 0:11:29.880 into the small little room that Rose also didn't like. 0:11:31.280 --> 0:11:35.679 I remember the pediatric neurologist walking in with very little 0:11:36.000 --> 0:11:40.520 empathy and saying this Jeneta report shows that she's got 0:11:40.520 --> 0:11:43.240 a genetic disease, a mutation in the h and rmph 0:11:43.280 --> 0:11:44.480 two gene. 0:11:44.559 --> 0:11:48.200 What the neurologist tells them shocks Casey and his family 0:11:48.240 --> 0:11:52.679 to the core. Rose's results show a rare mutation on 0:11:52.760 --> 0:11:57.640 the h n r n pH two gene of the 0:11:57.840 --> 0:12:01.960 H chromosome. The condition is called h n r n 0:12:02.080 --> 0:12:06.920 pH two related developmental disorder. At only three years old, 0:12:07.440 --> 0:12:12.720 Rose is diagnosed with an untreatable disorder with a devastating prognosis. 0:12:13.200 --> 0:12:16.280 Because this is what happens with these kids. They never 0:12:16.360 --> 0:12:19.839 live on their own, and they developed seizures around eight 0:12:20.280 --> 0:12:22.840 Some of them have died. We don't know why. We 0:12:22.880 --> 0:12:25.120 think it could be the seizures. Some of them have 0:12:25.240 --> 0:12:27.160 a few words that they can say, most of them 0:12:27.280 --> 0:12:31.960 can't talk. Some end up catatonic and wheelchairs. Some can walk. 0:12:32.280 --> 0:12:36.360 So there's this huge variety of what could happen to Rosie, 0:12:36.400 --> 0:12:38.960 but one thing was clear. She would never live on 0:12:39.000 --> 0:12:41.120 her own, she would never go to college, she would 0:12:41.160 --> 0:12:43.960 never get married, or have a job or go to 0:12:44.000 --> 0:12:46.880 the movies with her friends. Like that, life was not 0:12:46.920 --> 0:12:47.640 going to happen. 0:12:48.480 --> 0:12:54.800 Were you left with any advice? What did the doctors say? 0:12:55.280 --> 0:12:59.440 There's really nothing we can do casing, you know, other 0:12:59.480 --> 0:13:02.720 than make her comfortable. Good luck, good luck, and those 0:13:02.840 --> 0:13:09.080 words ringing in my ears. I remember being shocked leaving 0:13:09.120 --> 0:13:11.520 there with both girls and getting in the van and 0:13:11.559 --> 0:13:14.320 feeling super alone. 0:13:18.320 --> 0:13:21.560 Casey is left without answers to deal with a disorder 0:13:21.600 --> 0:13:24.760 that is so rare that in twenty twenty one, only 0:13:24.880 --> 0:13:30.319 thirty three cases had been documented worldwide. Here is Rodney Bowling, Junior, 0:13:30.679 --> 0:13:34.040 an expert in the field of molecular genetics, to explain 0:13:34.080 --> 0:13:36.440 the mutation causing Rosie's condition. 0:13:37.920 --> 0:13:42.040 Rosie has a single based permutation in her hn rn 0:13:42.160 --> 0:13:46.720 pH two gene very niche. It is a member of 0:13:46.760 --> 0:13:51.720 the spliceosome that removes entrons from the premature message to 0:13:51.800 --> 0:13:55.240 allow it to be made into messenger RNA. So in 0:13:55.360 --> 0:13:58.680 Rosie's case, h n rnph two, I'm just going to 0:13:58.720 --> 0:14:02.080 call it H two. A H two reaches out with 0:14:02.240 --> 0:14:07.200 one hand and grabs hold of an unprocessed RNA. The 0:14:07.280 --> 0:14:11.920 other hand grabs the splicees ome and introduces the RNA 0:14:11.960 --> 0:14:15.679 to the splice's ome for processing. In Rosie's case, it 0:14:15.760 --> 0:14:19.080 reaches out and grabs the RNA, but there's a great 0:14:19.120 --> 0:14:22.120 big trip to fan amino acid right in the middle 0:14:22.400 --> 0:14:26.520 of the domain that should introduce and bind the splicesome 0:14:26.840 --> 0:14:30.640 that blocks that interaction. It's like putting on a boxing 0:14:30.680 --> 0:14:32.760 glove and trying to shake somebody's hand. It's not going 0:14:32.840 --> 0:14:37.240 to happen very well. So the protein sequesters more than 0:14:37.280 --> 0:14:41.840 four hundred different messages away from being processed, and this 0:14:41.960 --> 0:14:43.160 is what causes her disease. 0:14:44.840 --> 0:14:47.960 Rosie definitely has this disease. So I have to accept 0:14:47.960 --> 0:14:51.480 that right, and that took some time, Like there's a 0:14:51.520 --> 0:14:54.120 grief that you go through when you know that your 0:14:54.200 --> 0:14:57.640 child is not going to have the same freedoms and 0:14:58.240 --> 0:15:01.800 hopes and dreams and cap abilities that you and I do, 0:15:02.080 --> 0:15:03.920 or you know you want that for your children. 0:15:04.760 --> 0:15:07.360 Faced with a challenge she could not fix with the 0:15:07.400 --> 0:15:11.080 tools available, Casey began to wonder if he could build 0:15:11.160 --> 0:15:11.880 his own. 0:15:12.440 --> 0:15:16.000 Why doesn't she have a treatment. What's the problem. And 0:15:16.040 --> 0:15:20.720 that's first sent me down a journey of research. Right, 0:15:20.760 --> 0:15:24.160 the veil had sort of been lifted and said, oh, 0:15:24.360 --> 0:15:31.320 the hospital can't help my daughter. So I remember the 0:15:31.360 --> 0:15:35.400 first metric that really got me was that there were 0:15:35.400 --> 0:15:38.480 over four hundred million people with diseases like this, half 0:15:38.520 --> 0:15:41.280 of them are children. Thirty percent of those kids die 0:15:41.320 --> 0:15:44.520 before their fifth birthday. That's in the tens of millions, right, 0:15:45.160 --> 0:15:49.000 and that only five percent of these ten thousand plus 0:15:49.120 --> 0:15:53.000 rare diseases actually have treatments. So I had to identify 0:15:53.040 --> 0:15:56.040 the monster first, what was the actual problem? And I 0:15:56.080 --> 0:15:59.640 realized it wasn't a technology issue for most these diseases, 0:15:59.640 --> 0:16:03.880 it was a business model issue. We had created a 0:16:03.880 --> 0:16:07.840 healthcare system where we developed drugs for large populations, but 0:16:08.240 --> 0:16:11.480 most genetic disease is ulterriy even could be one person 0:16:11.720 --> 0:16:14.320 similar to Rose. She didn't have a cure, she didn't 0:16:14.320 --> 0:16:17.440 have a treatment because nobody felt like they could make 0:16:17.560 --> 0:16:21.080 enough money off of it. Wow mm hmm. 0:16:21.880 --> 0:16:24.520 Just thinking of like sitting in that van with your 0:16:24.520 --> 0:16:29.240 two girls, having just been blindsided by the brutal reality 0:16:29.480 --> 0:16:31.800 of not only what she's dealing with, but the fact 0:16:31.800 --> 0:16:33.840 that no one's offering you hope? 0:16:34.080 --> 0:16:34.720 How did you? 0:16:35.360 --> 0:16:40.400 How did you turn your pain into the path forward? 0:16:41.840 --> 0:16:46.280 Anyone who's experienced immense tragedy in their life or suffering 0:16:46.600 --> 0:16:50.080 or loss, I'd lost both my brother and father to suicide, 0:16:50.600 --> 0:16:54.600 I think understands you kind of have two options. You 0:16:54.600 --> 0:16:58.760 have an option to continue your suffering by stuffing it 0:16:58.880 --> 0:17:05.520 down or or hiding it away or running away, or 0:17:06.160 --> 0:17:09.760 you find some way to create purpose out of it. 0:17:10.320 --> 0:17:13.040 I had to figure out how to turn pain into purpose. 0:17:13.160 --> 0:17:15.840 But I knew nothing about genetics. I certainly didn't know 0:17:15.880 --> 0:17:19.240 anything about ner developmental disease, you know, being a rock 0:17:19.280 --> 0:17:22.439 and roll guy, having fallen asleep in biology class in 0:17:22.520 --> 0:17:27.000 high school. I'm like, am I smart enough to do 0:17:27.160 --> 0:17:28.120 something about this? 0:17:29.480 --> 0:17:33.280 We'll be right back with Symptomatic, a Medical Mystery Podcast. 0:17:42.359 --> 0:17:49.840 Now back to Symptomatic, a Medical Mystery Podcast. Casey McPherson 0:17:50.200 --> 0:17:53.400 has been told by doctors that there is no treatment 0:17:53.480 --> 0:17:56.359 for the rare condition that will continue to plague his 0:17:56.520 --> 0:18:01.040 daughter Rose. Time is against him. Is Rosy's condition gains ground, 0:18:01.560 --> 0:18:04.080 he feels that he must take matters into his own 0:18:04.119 --> 0:18:08.479 hands and do something. Having lost both his brother and 0:18:08.640 --> 0:18:12.000 father to suicide in the years prior. Casey was no 0:18:12.160 --> 0:18:15.320 stranger to pain and suffering. But he will do what 0:18:15.359 --> 0:18:19.480 he has always done, turn that pain into purpose. He 0:18:19.560 --> 0:18:25.040 sets out to find a cure for Rose. So where 0:18:25.040 --> 0:18:25.840 did you begin. 0:18:26.359 --> 0:18:30.760 There were these, you know, genetic technologies. Some people do 0:18:30.880 --> 0:18:34.359 research with them, and you know have created treatments in 0:18:34.359 --> 0:18:36.480 the past, but it was never like you, as a 0:18:36.560 --> 0:18:40.080 parent had could do that. So I google parent cure's 0:18:40.160 --> 0:18:43.600 child of rare disease, and I find a few parents 0:18:43.720 --> 0:18:46.600 that actually did. They raised a couple of million dollars, 0:18:46.880 --> 0:18:49.719 they hired some researchers, they built a genetic treatment, they 0:18:49.720 --> 0:18:53.080 treated their kid in a clinical trial. I'm like, holy crap, 0:18:53.240 --> 0:18:56.439 this is actually happening all over the world. And that 0:18:56.480 --> 0:18:59.000 gave me a lot of hope that not only was 0:18:59.040 --> 0:19:03.040 this possible, people were actually doing it, but not everybody 0:19:03.080 --> 0:19:05.280 can raise that kind of money, and I didn't have 0:19:05.359 --> 0:19:09.040 that kind of money. I particularly focused on learning from 0:19:09.080 --> 0:19:12.840 a woman named Julia Viderello. Julia Viderello and doctor tim 0:19:13.040 --> 0:19:16.520 U created the first ever genetic treatment for one person 0:19:16.560 --> 0:19:19.000 in the world, for her daughter Mila. They went from 0:19:19.040 --> 0:19:21.560 diagnosis to designing the drug and treating her in a 0:19:21.600 --> 0:19:23.760 trial in less than a year, and it was the 0:19:23.760 --> 0:19:25.840 first time in the world anyone had ever done that, 0:19:26.400 --> 0:19:29.280 and so she really helped me get started on the 0:19:29.320 --> 0:19:31.160 path of who to talk to and how to think 0:19:31.200 --> 0:19:31.640 about it. 0:19:32.400 --> 0:19:37.160 Casey, a professional musician with no background in medicine or biology, 0:19:37.640 --> 0:19:41.560 started reaching out to anyone and everyone he could find 0:19:42.040 --> 0:19:45.800 to gain insight into the process of building a genetic treatment. 0:19:47.000 --> 0:19:50.399 I probably talked to two or three hundred CEOs of 0:19:50.400 --> 0:19:54.879 biotech companies, drug developers, scientists and developed a network of 0:19:54.960 --> 0:19:58.679 people that wanted to help. And even Ultrogenics let me 0:19:58.680 --> 0:20:02.159 attend their drug development boot camp for four days, which 0:20:02.720 --> 0:20:05.679 showed me how to manage a drug development program. I 0:20:05.720 --> 0:20:10.640 started taking genetics classes online and I started learning how 0:20:10.680 --> 0:20:12.240 people raise money for this. 0:20:13.240 --> 0:20:17.040 Somewhere along as outreach journey, Casey comes across the expert 0:20:17.119 --> 0:20:20.879 in molecular genetics and drug development that you heard from earlier, 0:20:21.359 --> 0:20:26.520 Rodney Bowling Junior. So how do you explain what you 0:20:26.640 --> 0:20:28.320 do to everyday people? 0:20:28.640 --> 0:20:33.520 There are ten thousand different rare diseases. There's another child 0:20:33.600 --> 0:20:37.240 born with a new rare disease that we've never seen before. 0:20:37.400 --> 0:20:41.639 Every day, a rare disease that will not be addressed 0:20:41.920 --> 0:20:47.000 by big pharma population medicine. A child that is as 0:20:47.119 --> 0:20:52.200 loved as any other, but with no option for treatment. 0:20:52.760 --> 0:20:55.639 So I work to make a treatment for that child. 0:20:56.119 --> 0:20:58.679 So you are a problem solver by nature. 0:20:59.160 --> 0:21:04.040 Well, I am an engineer. I approach medicine with those 0:21:04.200 --> 0:21:06.240 engineering practices I learned in school. 0:21:07.080 --> 0:21:09.159 If you're looking for a drug developing scientist, one of 0:21:09.200 --> 0:21:12.840 the best folks to look for are these drug hunter 0:21:12.960 --> 0:21:15.720 guys that have put these drugs into the clinic, and 0:21:15.720 --> 0:21:20.120 they're a different breed. They know biology like you might 0:21:20.680 --> 0:21:24.000 know your backyard or your bedroom, like where you could 0:21:24.119 --> 0:21:27.720 navigate it in the dark. That's how these guys know biology, 0:21:28.119 --> 0:21:30.440 in how cells work and how genetics work. 0:21:31.280 --> 0:21:34.840 When Casey found him, Rodney was the director of molecular 0:21:34.880 --> 0:21:37.879 genetics at a biotech company and had been working on 0:21:38.000 --> 0:21:42.600 gene targeting projects and drug development for decades. Shooting his 0:21:42.720 --> 0:21:46.480 shot as is consistent with Casey's approach to life, Casey 0:21:46.720 --> 0:21:47.920 sent him a message. 0:21:49.200 --> 0:21:51.400 I reached out to him on LinkedIn and said. 0:21:51.320 --> 0:21:55.639 My daughter has an alphabet disease. The doctor doesn't know 0:21:55.680 --> 0:21:57.199 what it is. I sure as hell don't know what 0:21:57.240 --> 0:21:59.760 it is. I see from your credentials that you should 0:21:59.760 --> 0:22:02.960 be to help. I worked with a team of scientists 0:22:03.000 --> 0:22:06.879 and spoke almost exclusively to them, and you develop a 0:22:06.960 --> 0:22:11.600 language that's unique to the sciences, particularly to antibody science. 0:22:12.000 --> 0:22:15.400 And here a father called, and I didn't know how 0:22:15.440 --> 0:22:18.359 to speak his language, and it just was miserable. 0:22:18.560 --> 0:22:22.040 I wanted to help, so they decided to meet. 0:22:22.600 --> 0:22:25.160 It was a day that would go down in history 0:22:25.320 --> 0:22:27.200 for both of them. 0:22:27.640 --> 0:22:31.000 The man I met over lunch is a father who 0:22:31.040 --> 0:22:34.879 would do anything and has done everything to help his daughter. 0:22:35.400 --> 0:22:38.919 He is charismatic and on a mission. And it is 0:22:39.080 --> 0:22:43.720 so easy to fall in behind him and help him 0:22:43.840 --> 0:22:47.680 carry that mission. Very quickly, you become a brother. You 0:22:47.760 --> 0:22:50.840 want to see him succeed. You need to see him succeed. 0:22:51.320 --> 0:22:54.800 That lunch turned into dinner and we started to cure 0:22:54.880 --> 0:22:55.640 rose that day. 0:22:56.080 --> 0:22:58.720 Did it surprise you in retrospect that you were so 0:22:59.000 --> 0:23:00.200 in a media. 0:23:00.720 --> 0:23:06.240 Honestly, I have six healthy children, and I feel that 0:23:06.280 --> 0:23:10.040 I owe a debt, an unpayable debt, to the fact 0:23:10.080 --> 0:23:11.680 that I have those six healthy kids. 0:23:11.880 --> 0:23:14.600 I'll remember he had all these papers, you know, about 0:23:14.600 --> 0:23:17.639 the disease, and said, oh my god, this is so serious. Casey. 0:23:17.720 --> 0:23:20.439 We have to do something about this. He left his 0:23:20.600 --> 0:23:24.600 career at ex Biotech. He was just super successful drug developer. 0:23:24.600 --> 0:23:28.280 He was offered a ton of money to go to Murk. 0:23:28.960 --> 0:23:31.280 He had like over fifteen drugs he had put in 0:23:31.280 --> 0:23:33.560 clinical trials. He would tell me, Casey, I'm tired of 0:23:33.560 --> 0:23:36.600 making rich people richer. I want to do something that 0:23:36.800 --> 0:23:40.040 matters to me, and I want to see these kids 0:23:40.080 --> 0:23:41.840 get treated. I'll never forget that day. 0:23:42.520 --> 0:23:45.480 And from that day, Casey and Rodney would work as 0:23:45.480 --> 0:23:49.320 a team with a shared mission find a cure for Rose. 0:23:50.720 --> 0:23:55.520 With a problem this big to solve. Where do you 0:23:55.680 --> 0:24:00.000 even start in science? There's always someone in front of you. 0:24:00.520 --> 0:24:04.560 So there was an academic center that had already demonstrated 0:24:04.600 --> 0:24:07.919 significant progress and understood a lot more about. 0:24:07.760 --> 0:24:10.880 Rosy's disease than I did. So I read those papers 0:24:11.240 --> 0:24:16.680 and went and connected Casey to those people. The scientists 0:24:16.680 --> 0:24:19.440 that we were able to work with were incredible and amazing. 0:24:19.720 --> 0:24:24.280 The Technology Transfer Office made it impossible to work with them, 0:24:24.680 --> 0:24:27.480 so we ended up having to leave that academic center. 0:24:27.920 --> 0:24:32.080 From there, I went to a contract research organization. And 0:24:32.160 --> 0:24:36.440 this contract research organization had always done excellent work. Their 0:24:36.480 --> 0:24:39.159 average contract was probably more than two million dollars. 0:24:39.720 --> 0:24:42.640 But you know, again, not everybody can raise that kind 0:24:42.680 --> 0:24:44.840 of money, and I didn't have that kind of money. 0:24:45.400 --> 0:24:47.879 I came to them with a little penny. Any sixty 0:24:47.960 --> 0:24:52.040 thousand dollars contract nothing to them, but for Casey that's 0:24:52.080 --> 0:24:54.520 all the money he had and asked them to make 0:24:54.600 --> 0:24:57.800 me seven cell lines. They told me, okay, we'll have 0:24:57.880 --> 0:24:59.200 those for you in six months. 0:24:59.720 --> 0:25:03.399 These cell lines, produced from Rose's own genetics, were vital 0:25:03.440 --> 0:25:07.080 to developing a treatment to treat the disease they first 0:25:07.119 --> 0:25:11.080 needed to understand it. But six months come and go 0:25:11.600 --> 0:25:14.320 and Rodney has still not heard back about the cell 0:25:14.359 --> 0:25:18.240 lines that are necessary to progress their research on finding 0:25:18.240 --> 0:25:24.159