Speaker 1: Ruby. She was screaming uncontrollably, like she was in pain
Speaker 1: and confused and angry. You could just see on her face.
Speaker 1: It was very, very clear that something was going very wrong.
Speaker 2: When Rosie's thing was more of a new thing to
Speaker 2: all of us, I kind of more focused on the
Speaker 2: bad parts of it.
Speaker 3: I Am not going to be okay if we're too
Speaker 3: late to help Rosie. It has to be Rosie. We
Speaker 3: have to get it done in time. For Rosie.
Speaker 1: There's really nothing we can do casing, you know, rather
Speaker 1: than make her comfortable good luck.
Speaker 4: How terrifying would it be to fight an unknown enemy,
Speaker 4: one you didn't recognize and didn't see coming. What if
Speaker 4: that enemy was coming from within a disease that even
Speaker 4: doctors couldn't identify. Nearly half of Americans suffered from some
Speaker 4: chronic illness, and many struggle for an accurate dify diagnosis.
Speaker 4: These are their stories. I'm Lauren Bray Pacheco, and this
Speaker 4: is symptomatic. Before Casey McPherson became a father, he was
Speaker 4: a rock star as the front man of Indecentsation Flying Colors.
Speaker 4: He was used to life on the road.
Speaker 1: I was touring all the time in a band. I
Speaker 1: would be on tour for three weeks, six weeks, come
Speaker 1: home for a few weeks. You know, you sort of
Speaker 1: arrange your life however you saw fit.
Speaker 4: You found incredible success as a musician, but it was
Speaker 4: really hard earned. Tell me a little bit about the
Speaker 4: early days when you first started out.
Speaker 1: I'd spent over a decade living under the poverty line,
Speaker 1: printing CDs in my house and playing to bartenders, you know,
Speaker 1: touring in broken down vans. I can't tell you how
Speaker 1: many times we broke down or the van caught on
Speaker 1: fire or whatever. I remember one place we played said
Speaker 1: we drank more than they were going to pay us,
Speaker 1: so we owed them money. And I just remember thinking, like,
Speaker 1: this is my life, you know. And so there was
Speaker 1: a degree of grit. As you know, for artists, there's
Speaker 1: an incredible amount of devotion you have to your craft.
Speaker 1: I didn't think anything could ever take me out of
Speaker 1: the music business. I had a songwriting out of making records.
Speaker 1: I never thought I would be doing anything else besides that.
Speaker 4: And then you became a father. What was the experience
Speaker 4: of becoming a parent for the first time, like.
Speaker 1: For you, I was in my mid thirties when I
Speaker 1: had my first daughter, Weston, And I'll never forget that
Speaker 1: day because I was already singing to her, you know,
Speaker 1: in the womb, and when she came out, I knew
Speaker 1: that there was nothing I wouldn't do for her, and
Speaker 1: that my life was not my own anymore. I just knew.
Speaker 1: I knew in that moment the meaning of unconditional love.
Speaker 4: And how long after Wes was born was your second
Speaker 4: daughter born.
Speaker 1: I think a little under two years that the point
Speaker 1: Rose was born, I had a major label record deal,
Speaker 1: I had a couple of top ten hits on the radio.
Speaker 1: I was touring the world. I'll never forget when Rose
Speaker 1: was born. She had the umbilical cord wrapped around her neck,
Speaker 1: and you know, it was very scary. I remember holding
Speaker 1: this tiny, tiny little girl in my hands and thinking
Speaker 1: that my charge now was to keep these little ladies alive,
Speaker 1: help make them strong and independent, and you know, accomplish
Speaker 1: their dreams.
Speaker 4: Very quickly, Casey and his family began to have concerns
Speaker 4: about regression in Rose's development. When looking back, is the
Speaker 4: first time that something stuck out to you as maybe
Speaker 4: an issue in terms of Rose's health?
Speaker 1: About eighteen months I wasn't really convinced until she lost
Speaker 1: her ability to speak, she was learning language. She first
Speaker 1: learned a sign, which was normal at her age, and
Speaker 1: then she started saying words like mom, dad, and outside.
Speaker 1: She point to the door and say outside, and we'd
Speaker 1: go outside. But when she stopped talking, it was that
Speaker 1: sort of deterioration of language was when I knew this
Speaker 1: was not okay. I have the girls, So she's in
Speaker 1: the other room. You maybe can hear squeak and squeal
Speaker 1: every now and then.
Speaker 4: Today Rosie is nonverbal through sounds and physical cues. Throughout
Speaker 4: the episode, we will rely on those closest to her
Speaker 4: to share her experience. Though Rose no longer communicates with words,
Speaker 4: she is full of personality. Here's her older sister, Weston.
Speaker 1: She loves animals.
Speaker 2: She looks like super shy and like scared, but once
Speaker 2: she gets to know her, she's a little bit like
Speaker 2: spicy and like a little bit sassy, but she's super
Speaker 2: happy all the time whenever she loves. It's one of
Speaker 2: the strongest emotions I get from her because that's one
Speaker 2: of the only times you know what she's feeling.
Speaker 4: What would you say is her absolute favorite food?
Speaker 2: I think her favorite food is probably pasta. Her favorite
Speaker 2: drink is definitely doctor pepper. She's stolen my dad's Doctor
Speaker 2: Pepper millions sometimes.
Speaker 4: What are some of your favorite things to do with Rosie?
Speaker 2: I love listening to music with her. I think she's
Speaker 2: always been someone who loves music too, whether it's like
Speaker 2: watching TV or like listening to my dad play. I
Speaker 2: think she just really enjoys like the sound of music
Speaker 2: and like the feelings that come with it. I'm so
Speaker 2: lucky to have her as my sister, because even though
Speaker 2: she can't talk, she's just one of the most amazing
Speaker 2: people I've ever met. It beautiful.
Speaker 4: Did you notice any difference initially between Wes as a
Speaker 4: baby and Rose as a baby.
Speaker 1: You know, other than personality, not really. You know, at
Speaker 1: some point Rose was beginning to experience some issues. You know,
Speaker 1: she was having trouble going to the bathroom so I'd
Speaker 1: have to give her enemas, and she would struggle with
Speaker 1: eating solids. But for the most part, doctors told us,
Speaker 1: you know, that's normal. Kids kind of developed, their systems
Speaker 1: are getting started in different ways in different times. She
Speaker 1: didn't want to walk, and then when she would try
Speaker 1: to walk instead of falling on her hands, she would
Speaker 1: fall flat on her face without putting her hands in
Speaker 1: front of her, So there was this kind of gross
Speaker 1: motor lack of response. She was also screaming uncontrollably, like
Speaker 1: she was in pain all the time and confused and angry.
Speaker 1: You know, you could just see on her face. This
Speaker 1: wasn't like I'm tired or I need milk or you know,
Speaker 1: it was very very clear that something was going very wrong.
Speaker 4: What did our doctors say when you voiced your concerns?
Speaker 4: Did they run any tests or give you any answers.
Speaker 1: So, because our healthcare is some runs off of what
Speaker 1: insurance will cover, they have a process, and the process
Speaker 1: maybe differs from hospital to hospital, but it's relatively the same.
Speaker 1: So they'll say, you know what, We're going to run
Speaker 1: a panel and it tests for diseases that currently have treatments.
Speaker 1: It doesn't test for diseases that don't. And keep in mind,
Speaker 1: there's over ten thousand rare diseases and only five percent
Speaker 1: of them have any treatments, so you can imagine how
Speaker 1: many are left out on these panels.
Speaker 4: The panel tests come back showing nothing to indicate an
Speaker 4: abnormality that could be contributing to Rose's decline. With no
Speaker 4: clear pathway laid out by Roses doctors, Casey takes it
Speaker 4: upon himself to research what needs to be done next.
Speaker 1: Her mom and I had started kind of doing some research,
Speaker 1: and we knew enough about neurodevelopment to know that it's
Speaker 1: often caused by genetic mutations. It was clear that she
Speaker 1: was having trouble with balance and losing her words. She
Speaker 1: struggled with feeding herself. When you know kids at that
Speaker 1: point were sort of getting better at that you know,
Speaker 1: it was severely missing milestones at this point. In order
Speaker 1: to find a genetic mutation, you needed genetic sequencing done,
Speaker 1: and at the time, the only one we could afford
Speaker 1: was a whole exome sequence because it was ten thousand dollars.
Speaker 1: Keep in mind it's two hundred and fifty dollars now.
Speaker 1: They sent some boxes to us of swabs and I
Speaker 1: had to swab me, swab Mom, swab Weston, swab Rose
Speaker 1: and send those back and I think that took a
Speaker 1: few months or four months to get all of that.
Speaker 4: The stress of waiting for answers while watching Rose's health
Speaker 4: get worse weigh heavily on Casey and his family as
Speaker 4: they await a prognosis, Casey and his wife split up.
Speaker 4: Can you give us an example of just how serious
Speaker 4: things were getting?
Speaker 1: Yeah, you know, she died from her first seizure for
Speaker 1: a couple of minutes when mom had to bring her back.
Speaker 4: That must have been terrifying for everyone, almost losing Rosie,
Speaker 4: but also still having to wait for answers as to
Speaker 4: what was causing all of this. What was that like
Speaker 4: for you as a father? How did you handle that?
Speaker 1: I was trying to keep everybody calm, and as so
Speaker 1: many ways, I was minimizing, like, hey, it's going to
Speaker 1: be okay, She's going to get through this. And you know,
Speaker 1: I think anytime you experience unimaginable loss or devastation, there's
Speaker 1: sort of a level of unbelief or disbelief, and I
Speaker 1: think I sort of had that. So I was doing
Speaker 1: the work to try to get to an answer, but
Speaker 1: also didn't really think it was going.
Speaker 3: To be this bad.
Speaker 1: And then they emailed us a report, and that's when
Speaker 1: I had to schedule another pediatric neurologist appointment so that
Speaker 1: he could tell me what I was looking at. I
Speaker 1: remember I had both girls, I was alone with them.
Speaker 1: I held both their hands, walked them across the parking
Speaker 1: lot into the elevator. Rose cannot handle elevators. She was screaming,
Speaker 1: makes west and cry, then finally calling my name, going
Speaker 1: into the small little room that Rose also didn't like.
Speaker 1: I remember the pediatric neurologist walking in with very little
Speaker 1: empathy and saying this Jeneta report shows that she's got
Speaker 1: a genetic disease, a mutation in the h and rmph
Speaker 1: two gene.
Speaker 4: What the neurologist tells them shocks Casey and his family
Speaker 4: to the core. Rose's results show a rare mutation on
Speaker 4: the h n r n pH two gene of the
Speaker 4: H chromosome. The condition is called h n r n
Speaker 4: pH two related developmental disorder. At only three years old,
Speaker 4: Rose is diagnosed with an untreatable disorder with a devastating prognosis.
Speaker 1: Because this is what happens with these kids. They never
Speaker 1: live on their own, and they developed seizures around eight
Speaker 1: Some of them have died. We don't know why. We
Speaker 1: think it could be the seizures. Some of them have
Speaker 1: a few words that they can say, most of them
Speaker 1: can't talk. Some end up catatonic and wheelchairs. Some can walk.
Speaker 1: So there's this huge variety of what could happen to Rosie,
Speaker 1: but one thing was clear. She would never live on
Speaker 1: her own, she would never go to college, she would
Speaker 1: never get married, or have a job or go to
Speaker 1: the movies with her friends. Like that, life was not
Speaker 1: going to happen.
Speaker 4: Were you left with any advice? What did the doctors say?
Speaker 1: There's really nothing we can do casing, you know, other
Speaker 1: than make her comfortable. Good luck, good luck, and those
Speaker 1: words ringing in my ears. I remember being shocked leaving
Speaker 1: there with both girls and getting in the van and
Speaker 1: feeling super alone.
Speaker 4: Casey is left without answers to deal with a disorder
Speaker 4: that is so rare that in twenty twenty one, only
Speaker 4: thirty three cases had been documented worldwide. Here is Rodney Bowling, Junior,
Speaker 4: an expert in the field of molecular genetics, to explain
Speaker 4: the mutation causing Rosie's condition.
Speaker 3: Rosie has a single based permutation in her hn rn
Speaker 3: pH two gene very niche. It is a member of
Speaker 3: the spliceosome that removes entrons from the premature message to
Speaker 3: allow it to be made into messenger RNA. So in
Speaker 3: Rosie's case, h n rnph two, I'm just going to
Speaker 3: call it H two. A H two reaches out with
Speaker 3: one hand and grabs hold of an unprocessed RNA. The
Speaker 3: other hand grabs the splicees ome and introduces the RNA
Speaker 3: to the splice's ome for processing. In Rosie's case, it
Speaker 3: reaches out and grabs the RNA, but there's a great
Speaker 3: big trip to fan amino acid right in the middle
Speaker 3: of the domain that should introduce and bind the splicesome
Speaker 3: that blocks that interaction. It's like putting on a boxing
Speaker 3: glove and trying to shake somebody's hand. It's not going
Speaker 3: to happen very well. So the protein sequesters more than
Speaker 3: four hundred different messages away from being processed, and this
Speaker 3: is what causes her disease.
Speaker 1: Rosie definitely has this disease. So I have to accept
Speaker 1: that right, and that took some time, Like there's a
Speaker 1: grief that you go through when you know that your
Speaker 1: child is not going to have the same freedoms and
Speaker 1: hopes and dreams and cap abilities that you and I do,
Speaker 1: or you know you want that for your children.
Speaker 4: Faced with a challenge she could not fix with the
Speaker 4: tools available, Casey began to wonder if he could build
Speaker 4: his own.
Speaker 1: Why doesn't she have a treatment. What's the problem. And
Speaker 1: that's first sent me down a journey of research. Right,
Speaker 1: the veil had sort of been lifted and said, oh,
Speaker 1: the hospital can't help my daughter. So I remember the
Speaker 1: first metric that really got me was that there were
Speaker 1: over four hundred million people with diseases like this, half
Speaker 1: of them are children. Thirty percent of those kids die
Speaker 1: before their fifth birthday. That's in the tens of millions, right,
Speaker 1: and that only five percent of these ten thousand plus
Speaker 1: rare diseases actually have treatments. So I had to identify
Speaker 1: the monster first, what was the actual problem? And I
Speaker 1: realized it wasn't a technology issue for most these diseases,
Speaker 1: it was a business model issue. We had created a
Speaker 1: healthcare system where we developed drugs for large populations, but
Speaker 1: most genetic disease is ulterriy even could be one person
Speaker 1: similar to Rose. She didn't have a cure, she didn't
Speaker 1: have a treatment because nobody felt like they could make
Speaker 1: enough money off of it. Wow mm hmm.
Speaker 4: Just thinking of like sitting in that van with your
Speaker 4: two girls, having just been blindsided by the brutal reality
Speaker 4: of not only what she's dealing with, but the fact
Speaker 4: that no one's offering you hope?
Speaker 2: How did you?
Speaker 4: How did you turn your pain into the path forward?
Speaker 1: Anyone who's experienced immense tragedy in their life or suffering
Speaker 1: or loss, I'd lost both my brother and father to suicide,
Speaker 1: I think understands you kind of have two options. You
Speaker 1: have an option to continue your suffering by stuffing it
Speaker 1: down or or hiding it away or running away, or
Speaker 1: you find some way to create purpose out of it.
Speaker 1: I had to figure out how to turn pain into purpose.
Speaker 1: But I knew nothing about genetics. I certainly didn't know
Speaker 1: anything about ner developmental disease, you know, being a rock
Speaker 1: and roll guy, having fallen asleep in biology class in
Speaker 1: high school. I'm like, am I smart enough to do
Speaker 1: something about this?
Speaker 4: We'll be right back with Symptomatic, a Medical Mystery Podcast.
Speaker 4: Now back to Symptomatic, a Medical Mystery Podcast. Casey McPherson
Speaker 4: has been told by doctors that there is no treatment
Speaker 4: for the rare condition that will continue to plague his
Speaker 4: daughter Rose. Time is against him. Is Rosy's condition gains ground,
Speaker 4: he feels that he must take matters into his own
Speaker 4: hands and do something. Having lost both his brother and
Speaker 4: father to suicide in the years prior. Casey was no
Speaker 4: stranger to pain and suffering. But he will do what
Speaker 4: he has always done, turn that pain into purpose. He
Speaker 4: sets out to find a cure for Rose. So where
Speaker 4: did you begin.
Speaker 1: There were these, you know, genetic technologies. Some people do
Speaker 1: research with them, and you know have created treatments in
Speaker 1: the past, but it was never like you, as a
Speaker 1: parent had could do that. So I google parent cure's
Speaker 1: child of rare disease, and I find a few parents
Speaker 1: that actually did. They raised a couple of million dollars,
Speaker 1: they hired some researchers, they built a genetic treatment, they
Speaker 1: treated their kid in a clinical trial. I'm like, holy crap,
Speaker 1: this is actually happening all over the world. And that
Speaker 1: gave me a lot of hope that not only was
Speaker 1: this possible, people were actually doing it, but not everybody
Speaker 1: can raise that kind of money, and I didn't have
Speaker 1: that kind of money. I particularly focused on learning from
Speaker 1: a woman named Julia Viderello. Julia Viderello and doctor tim
Speaker 1: U created the first ever genetic treatment for one person
Speaker 1: in the world, for her daughter Mila. They went from
Speaker 1: diagnosis to designing the drug and treating her in a
Speaker 1: trial in less than a year, and it was the
Speaker 1: first time in the world anyone had ever done that,
Speaker 1: and so she really helped me get started on the
Speaker 1: path of who to talk to and how to think
Speaker 1: about it.
Speaker 4: Casey, a professional musician with no background in medicine or biology,
Speaker 4: started reaching out to anyone and everyone he could find
Speaker 4: to gain insight into the process of building a genetic treatment.
Speaker 1: I probably talked to two or three hundred CEOs of
Speaker 1: biotech companies, drug developers, scientists and developed a network of
Speaker 1: people that wanted to help. And even Ultrogenics let me
Speaker 1: attend their drug development boot camp for four days, which
Speaker 1: showed me how to manage a drug development program. I
Speaker 1: started taking genetics classes online and I started learning how
Speaker 1: people raise money for this.
Speaker 4: Somewhere along as outreach journey, Casey comes across the expert
Speaker 4: in molecular genetics and drug development that you heard from earlier,
Speaker 4: Rodney Bowling Junior. So how do you explain what you
Speaker 4: do to everyday people?
Speaker 3: There are ten thousand different rare diseases. There's another child
Speaker 3: born with a new rare disease that we've never seen before.
Speaker 3: Every day, a rare disease that will not be addressed
Speaker 3: by big pharma population medicine. A child that is as
Speaker 3: loved as any other, but with no option for treatment.
Speaker 3: So I work to make a treatment for that child.
Speaker 4: So you are a problem solver by nature.
Speaker 3: Well, I am an engineer. I approach medicine with those
Speaker 3: engineering practices I learned in school.
Speaker 1: If you're looking for a drug developing scientist, one of
Speaker 1: the best folks to look for are these drug hunter
Speaker 1: guys that have put these drugs into the clinic, and
Speaker 1: they're a different breed. They know biology like you might
Speaker 1: know your backyard or your bedroom, like where you could
Speaker 1: navigate it in the dark. That's how these guys know biology,
Speaker 1: in how cells work and how genetics work.
Speaker 4: When Casey found him, Rodney was the director of molecular
Speaker 4: genetics at a biotech company and had been working on
Speaker 4: gene targeting projects and drug development for decades. Shooting his
Speaker 4: shot as is consistent with Casey's approach to life, Casey
Speaker 4: sent him a message.
Speaker 1: I reached out to him on LinkedIn and said.
Speaker 3: My daughter has an alphabet disease. The doctor doesn't know
Speaker 3: what it is. I sure as hell don't know what
Speaker 3: it is. I see from your credentials that you should
Speaker 3: be to help. I worked with a team of scientists
Speaker 3: and spoke almost exclusively to them, and you develop a
Speaker 3: language that's unique to the sciences, particularly to antibody science.
Speaker 3: And here a father called, and I didn't know how
Speaker 3: to speak his language, and it just was miserable.
Speaker 1: I wanted to help, so they decided to meet.
Speaker 4: It was a day that would go down in history
Speaker 4: for both of them.
Speaker 3: The man I met over lunch is a father who
Speaker 3: would do anything and has done everything to help his daughter.
Speaker 3: He is charismatic and on a mission. And it is
Speaker 3: so easy to fall in behind him and help him
Speaker 3: carry that mission. Very quickly, you become a brother. You
Speaker 3: want to see him succeed. You need to see him succeed.
Speaker 3: That lunch turned into dinner and we started to cure
Speaker 3: rose that day.
Speaker 4: Did it surprise you in retrospect that you were so
Speaker 4: in a media.
Speaker 3: Honestly, I have six healthy children, and I feel that
Speaker 3: I owe a debt, an unpayable debt, to the fact
Speaker 3: that I have those six healthy kids.
Speaker 1: I'll remember he had all these papers, you know, about
Speaker 1: the disease, and said, oh my god, this is so serious. Casey.
Speaker 1: We have to do something about this. He left his
Speaker 1: career at ex Biotech. He was just super successful drug developer.
Speaker 1: He was offered a ton of money to go to Murk.
Speaker 1: He had like over fifteen drugs he had put in
Speaker 1: clinical trials. He would tell me, Casey, I'm tired of
Speaker 1: making rich people richer. I want to do something that
Speaker 1: matters to me, and I want to see these kids
Speaker 1: get treated. I'll never forget that day.
Speaker 4: And from that day, Casey and Rodney would work as
Speaker 4: a team with a shared mission find a cure for Rose.
Speaker 4: With a problem this big to solve. Where do you
Speaker 4: even start in science? There's always someone in front of you.
Speaker 4: So there was an academic center that had already demonstrated
Speaker 4: significant progress and understood a lot more about.
Speaker 3: Rosy's disease than I did. So I read those papers
Speaker 3: and went and connected Casey to those people. The scientists
Speaker 3: that we were able to work with were incredible and amazing.
Speaker 3: The Technology Transfer Office made it impossible to work with them,
Speaker 3: so we ended up having to leave that academic center.
Speaker 3: From there, I went to a contract research organization. And
Speaker 3: this contract research organization had always done excellent work. Their
Speaker 3: average contract was probably more than two million dollars.
Speaker 1: But you know, again, not everybody can raise that kind
Speaker 1: of money, and I didn't have that kind of money.
Speaker 3: I came to them with a little penny. Any sixty
Speaker 3: thousand dollars contract nothing to them, but for Casey that's
Speaker 3: all the money he had and asked them to make
Speaker 3: me seven cell lines. They told me, okay, we'll have
Speaker 3: those for you in six months.
Speaker 4: These cell lines, produced from Rose's own genetics, were vital
Speaker 4: to developing a treatment to treat the disease they first
Speaker 4: needed to understand it. But six months come and go
Speaker 4: and Rodney has still not heard back about the cell
Speaker 4: lines that are necessary to progress their research on finding
Speaker 4: a treatment. Battling intensifying gastro intestinal issues, looming growth challenges,
Speaker 4: and potentially life threatening seizures, they are fighting the clock,
Speaker 4: and for Rosie, every moment without a cure counts.
Speaker 3: More than a year later, I called up and was
Speaker 3: just screaming at them, where are these what is going on?
Speaker 3: And they came back and said, well, honestly, we've lost
Speaker 3: half the cell lines and we can't locate them. We
Speaker 3: paid thirty thousand dollars up front. I got three of
Speaker 3: the seven. I was Okay, well then we've paid you
Speaker 3: were done. No, they sent a lawyer after us and
Speaker 3: sent us to collections to collect the other thirty thousand
Speaker 3: dollars off the cell lines if they never could find.
Speaker 3: So I was literally sitting on Casey's front porch crying
Speaker 3: into a glass of whiskey that I just I couldn't
Speaker 3: make it happen. And Casey said, Rodney, we just need
Speaker 3: to start our own lab.
Speaker 1: When I realized that private contract research organizations or academic centers,
Speaker 1: none of those were going to have the same urgency
Speaker 1: that we had to make these treatments, and other families
Speaker 1: needed a place to go, so we spent out this lab.
Speaker 4: Starting their own lab from scratch would be no easy feat.
Speaker 4: With their funds already depleted from their unsuccessful partnership with
Speaker 4: the contract research organization, Casey and Rodney needed to raise money,
Speaker 4: and lots of it. So Casey, the ultimate creative, got resourceful.
Speaker 1: So you know, I started with forming a foundation, Alpharo's Therapeutics,
Speaker 1: to initially try to fund that work. The foundation's basically
Speaker 1: funded by fans of my band, people from my church,
Speaker 1: people that latched onto Rose's story. We launched Rosefest and
Speaker 1: so we would raise money with rock and roll shows
Speaker 1: and then eventually a golf tournament at Pinehurst, eventually a
Speaker 1: Rose Gala at the Barton Creek. And that money went
Speaker 1: towards paying for the science to develop a treatment for Rose.
Speaker 1: It also went to, you know, gathering that community up
Speaker 1: so that we could figure out how to create a
Speaker 1: sustainable model.
Speaker 4: The further Casey got down the path to funding a
Speaker 4: treatment for Rosie, the more he recognized that his family
Speaker 4: was not alone in their desperate need for ultra rare
Speaker 4: condition treatments.
Speaker 1: So what I realized was that it'll cost me a
Speaker 1: million bucks of safety tests and things to treat Rose.
Speaker 1: But to commercialize this medicine will cost between ten and
Speaker 1: twenty million because it has to go through a proper
Speaker 1: commercial LEFTI a clinical trial. But if I only treat Rose,
Speaker 1: what about the kids in Australia, What about the kids
Speaker 1: in France? What about the kids in South America that
Speaker 1: have this disease? I either could raise just enough money
Speaker 1: to treat Rose and it would be stuck in a
Speaker 1: perpetual clinical trial forever, or create a system that once
Speaker 1: we treated Rose, we would have some sustainable way of
Speaker 1: doing this. So parents didn't have to pay for this
Speaker 1: crap anymore.
Speaker 4: It was then that Casey and Rodney's mission grew beyond
Speaker 4: just saving Rose, but expanded to building a future model
Speaker 4: for all families needing a treatment to save their loved one.
Speaker 1: It iterated from can I save my daughter? To now
Speaker 1: it's can I fix the system? So now you know,
Speaker 1: the families get to own all their intellectual property. We
Speaker 1: have a lab we can build these treatments in.
Speaker 4: Now that you have your lab set up, how do
Speaker 4: you approach finding a treatment?
Speaker 1: We start with blood.
Speaker 3: The blood is a mixture of a thousand different cell lines,
Speaker 3: and we pull out a monocyte. A monocyte is an
Speaker 3: immune cell that retains the ability to do multiple things,
Speaker 3: and to that we add four genes that create a
Speaker 3: stem cell. We finally grew up and differentiated some neurons
Speaker 3: from rosy stem cells and added ASOS antisense. Oligos started
Speaker 3: with fifty five and ran attack Man assay. Attack Man
Speaker 3: assay allows you to measure specifically an RNA that you're
Speaker 3: looking for, and in seven of our fifty five asos
Speaker 3: we saw it significant progress and that was that was
Speaker 3: an amazing moment. We had an embarrassment of riches to
Speaker 3: have seven. I couldn't wait to tell Casey.
Speaker 4: So of course, if this were a Hollywood movie, he
Speaker 4: would come in, you would tell him the good news,
Speaker 4: and then you guys would run and get rosy. But
Speaker 4: what's the reality.
Speaker 3: The reality is, we did a pre clinical rat study.
Speaker 3: This rat study will ultimately go to the FDA as
Speaker 3: proof of safety lack of toxicity of our drug for rosie.
Speaker 3: In parallel, we have an h n R NPH two
Speaker 3: natural history study going on looking for scientifically measurable ways
Speaker 3: to demonstrate that the ASO is in fact working. Does
Speaker 3: this affect her walking gate? Is the child seeing any
Speaker 3: benefit of the drug? Next we write up an investigational
Speaker 3: new drug and hopefully in the coming year, began a
Speaker 3: clinical trial to see this drug released into the US
Speaker 3: for five hundred give or take patients in the US
Speaker 3: and likely five thousand in the world.
Speaker 1: We're very excited. We found a hospital that we can
Speaker 1: treat her and some other children in and we're setting
Speaker 1: up a proper clinical trial to attempt to get it
Speaker 1: approved by the FDA so we can create you know,
Speaker 1: gloe Moble access for the drug.
Speaker 4: You have gone from record label rock star to running
Speaker 4: a biotech company to being a thought leader in the
Speaker 4: drug development space.
Speaker 1: How have people in.
Speaker 4: Your life reacted to that.
Speaker 1: There's a lot of folks that have said, stay in
Speaker 1: your lane. You know, you're just a parent, be a
Speaker 1: patient advocate. Why do you have to be screwing around
Speaker 1: with this stuff? This is our job? And my answer
Speaker 1: has been simple, is like I would have loved it
Speaker 1: to be your job. I never wanted to quit my
Speaker 1: music career, but here we are because someone didn't do
Speaker 1: their job, you know, and I'm going to do it
Speaker 1: until somebody else does it better than me. I would
Speaker 1: be more than happy for someone to take over and
Speaker 1: fix this problem. I'm not trying to fix it because
Speaker 1: I think I'm some special person. I'm just trying to
Speaker 1: fix it because no one has yet. I had to
Speaker 1: go learn science. I had to go learn fundraising. I
Speaker 1: had to go learn drug development. I had to go
Speaker 1: learn self discipline. I had to go learn networking. I
Speaker 1: had to go learn how to project estimates and revenue
Speaker 1: and expenses. We've worked with over twenty two families. We're
Speaker 1: running like eighteen programs. We've made eight new drugs already.
Speaker 1: Some of those patients are already their doctors are prescribing
Speaker 1: those medicines that we've discovered. I did every single one
Speaker 1: of those things for Rose.
Speaker 3: The Casey that I met in twenty nineteen had never
Speaker 3: passed high school biology, and now he knows the language.
Speaker 3: He's running a pharmaceutical company and is using those connections
Speaker 3: and that charisma to cure not only his daughter, but
Speaker 3: create a pathway for everyone with rare disease.
Speaker 4: That compassionate, forward thinking leadership harnessed by Casey has resulted
Speaker 4: in incredible strides, and only a few years they've already
Speaker 4: created a pre clinical treatment for Rose.
Speaker 1: You know, I hope Rose will outlive me, but she
Speaker 1: may not. At any case, even as late as we are.
Speaker 1: She's nine. Now when I treat her, she's not going
Speaker 1: to gain all of her abilities back. She might be
Speaker 1: able to talk again, you know, if we're treating her
Speaker 1: at eighteen months, potentially she could grow completely normal with
Speaker 1: a drug like this, but at this point she won't.
Speaker 1: And so you know, we're not going to stop doing
Speaker 1: all of this, Rosie and I aren't because we're always
Speaker 1: going to be in it. We're always going to be
Speaker 1: fighting for this, and I just think if we can
Speaker 1: save the next family that comes along. You know that
Speaker 1: it's going to make roses suffering and my family's suffering
Speaker 1: have that much more value. We can almost wear it
Speaker 1: with some pride in that way.
Speaker 4: What do you think actually drives your father at the
Speaker 4: end of the day.
Speaker 2: I think what pushes my dad the most to do
Speaker 2: all this is being able to first help these kids
Speaker 2: and do these amazing things, but also being able to
Speaker 2: hear Rosie speak for the first time and knowing the
Speaker 2: emotion she's felt. I feel like it's going to be
Speaker 2: so happy whenever I get to hear a voice for
Speaker 2: the first time.
Speaker 1: I would like to be able to treat her next year,
Speaker 1: and I would like to see her be able to
Speaker 1: say daddy again. I would like to see her run
Speaker 1: in the park and maybe learn how to play with
Speaker 1: a friend, you know, maybe learn how to acquire a
Speaker 1: skill or a hobby or something that's fun for her
Speaker 1: to do.
Speaker 2: People like sometimes they're like, oh, well, if Rosie didn't
Speaker 2: have this condition, you'd be able to talk to her.
Speaker 2: But sometimes it helps me remember that, like, if she
Speaker 2: didn't have the condition, then we wouldn't have helped all
Speaker 2: these kids.
Speaker 1: Rose.
Speaker 4: The reason for all of this the daughter that inspired
Speaker 4: Casey to just rucked an industry and create positive change.
Speaker 4: Rosie touches their lives every single day and reminds them
Speaker 4: why they are doing it.
Speaker 1: How is Rose doing today? She is happy. We've got
Speaker 1: her seizures under control. We worry about that, but she
Speaker 1: is in a pretty happy space in her life, which
Speaker 1: is great. After this podcast, I'll go snuggle with her
Speaker 1: in bed and I can tickle her and she'll giggle,
Speaker 1: and she'll let me kiss her on the cheek, and
Speaker 1: you know, I can interact with her. She'll let me
Speaker 1: snuggle with her, which is just amazing. Like it's my
Speaker 1: favorite part of the day.
Speaker 2: I'm just so proud of my parents and my sister
Speaker 2: for pushing through all of this. And even though it
Speaker 2: has taken its toll on all of us and like
Speaker 2: been a really hard obstacle, I think it's kind of
Speaker 2: shaped us into the people we want to be or
Speaker 2: the people we are now.
Speaker 4: Is there anything else you want to add, just in
Speaker 4: terms of what message you want listeners to take away.
Speaker 3: How easy would it have been for Casey to claim
Speaker 3: victimhood and crawled under a rock and hold his daughter
Speaker 3: and cry, And that's not what he did. He has fought,
Speaker 3: and as we've struggled, he's continued to fight, and he's invented,
Speaker 3: literally invented new ways to fight. And his fight has
Speaker 3: already helped others, and the team that he's building around
Speaker 3: him will continue to find ways invent ways to help others.
Speaker 3: This is the way we're going to beat rare disease.
Speaker 1: Cuzy New.
Speaker 2: Sweet can switch subrain on.
Speaker 1: We'll talk well, key walk oh. Because you know, there
Speaker 1: was sort of a death of my career and one
Speaker 1: of the things that I noticed was that Rose really
Speaker 1: could regulate her mood with music, and so every night,
Speaker 1: I would, you know, sing to her. Well, I sing
Speaker 1: to her every day when she gets really irritated, because
Speaker 1: it makes it calms her down. You know, I don't
Speaker 1: really play publicly much anymore unless it's for fundraisers and stuff,
Speaker 1: but I do for Rosie, you know, and that's strangely
Speaker 1: totally enough for me. Last thing I would say is
Speaker 1: that we live in this incredible time of technology. This
Speaker 1: is more of a civil rights issue than anything. We
Speaker 1: have the technology to treat many of these diseases, but
Speaker 1: we don't have the systems and business models and support
Speaker 1: to do it at any sort of scale yet, And
Speaker 1: as we're building that, I think it's important that families
Speaker 1: take courage, have the couraged hope, because to have hope
Speaker 1: means you think that maybe something could change, and that's
Speaker 1: a scary thought when you're trying to accept the reality
Speaker 1: of what you're in. And I think it's okay to
Speaker 1: completely love your child and accept the reality you're in
Speaker 1: and at the same time not stand for it. I
Speaker 1: think that's okay.
Speaker 4: You can learn more about Alpha Rose at www dot
Speaker 4: Alpha Rose dot com, to Curos Foundation at www dot
Speaker 4: Decurros dot org and TCR Rare Labs at tcrrare Labs
Speaker 4: dot org, and you can follow Casey at k see
Speaker 4: McPherson on Instagram. Coming up on next week's episode of Symptomatic,
Speaker 4: what started as intermittent rashes that popped up years apart
Speaker 4: turned into excruciating, long term flare ups with no reprieve.
Speaker 5: For Kristin Willard, it feels to me as if someone
Speaker 5: has removed all my skin down to like the muscle
Speaker 5: and then covered me in a bull blanket.
Speaker 4: Unable to sleep, shower, or even put on pants. Kristen's
Speaker 4: quality of life had plummeted, and she could find no
Speaker 4: common trigger to explain the debilitating flares she was forced
Speaker 4: to endure for months on end. As always, we would
Speaker 4: love to hear from you. Send us your thoughts on
Speaker 4: this episode, or share a medical mystery of your own
Speaker 4: at Symptomatic at iHeartMedia dot com, and please rate and
Speaker 4: review Symptomatic wherever you get your podcasts. We'll see you
Speaker 4: next time, and until then, be well. Symptomatic a medical
Speaker 4: mystery podcast, is a production of iHeartMedia's Ruby Studio. Our
Speaker 4: show is hosted by me Lauren Bright Pacheco. Our executive
Speaker 4: producers are James Foster, Matt Romano, and myself. Our supervising
Speaker 4: producers are Ryan Ovadia, Haley Aliah Ericsson, and Daniel Ainsworth.
Speaker 4: This episode was written by Haley Aliah Erickson and edited
Speaker 4: by Samuel Richardson.