Speaker 1: Ruby.
Speaker 2: She was not in her seatbelt, literally like contorting, and
Speaker 2: she just clearly you could not get comfortable. The pain
Speaker 2: was so severe, and I remember her thanking me for
Speaker 2: taking care of her, as if she thought she was
Speaker 2: gonna die.
Speaker 3: You know, at that age specifically, you see doctors as
Speaker 3: like literally your heroes. They're supposed to know everything, and
Speaker 3: so when people were like, oh, I don't know, that
Speaker 3: was like, Oh, what do you mean you don't know?
Speaker 4: I am ashamed that I did contribute to some of
Speaker 4: that skepticism when I first met them.
Speaker 5: I didn't fully understand at that point in my.
Speaker 4: Career how complex a brain and body can be.
Speaker 3: I promise you, like on everything I love, this is real.
Speaker 1: How terrifying would it be to fight an unknown enemy,
Speaker 1: one you didn't recognize and didn't see coming. What if
Speaker 1: that enemy was coming from within a disease that even
Speaker 1: doctors couldn't identify. Nearly half of Americans suffer from some
Speaker 1: chronic illness, and many struggle for an accurate diagnosis. These
Speaker 1: are their stories. I'm Lauren Bray Pacheco, and this is symptomatic.
Speaker 1: Sarah Marshall is without a doubt on the list for
Speaker 1: Mother of the year. Having come from a background in
Speaker 1: social work, she has taught her children the value of
Speaker 1: community and the importance of advocacy. She's smart, intuitive, and
Speaker 1: fierce in her defense of what's right. She is a
Speaker 1: mother to four daughters that span eight years.
Speaker 2: My girls are incredibly close. Growing up, they didn't fight
Speaker 2: all that much, but when they did, I would basically
Speaker 2: tell them that person is your sister and she will
Speaker 2: be your sister the rest of your life, and you
Speaker 2: can't treat her like that. I only remember saying that
Speaker 2: maybe once or twice, but they still talk about that message.
Speaker 2: It's really a special bond that they all have.
Speaker 1: The youngest of Sarah's daughters is Phoebe.
Speaker 3: My name is Phoebe Marshall and I'm seventeen years old.
Speaker 1: How do you spend your time when you're not in school?
Speaker 3: I work at an after school childcare program that takes
Speaker 3: up a lot of my time.
Speaker 1: I really like working.
Speaker 3: I'm a pretty average Shange girl. I hang up with
Speaker 3: my friends, go on food trips, homework, all the regular things.
Speaker 1: And I'm sure that being the baby of the bunch,
Speaker 1: Phoebe grew up with four mothers in the house indeed
Speaker 1: very much Influenced by the inspirational work that her mother does,
Speaker 1: Phoebe has already made the decision to follow in her
Speaker 1: footsteps professionally.
Speaker 3: I am going to study social work. I want to
Speaker 3: first be in the child welfare system with CPS, and
Speaker 3: then once I get married and have kids and need
Speaker 3: a more slow moving job, I'm going to be a
Speaker 3: school social worker.
Speaker 1: From an early age, Sarah noticed that Phoebe seemed to
Speaker 1: be getting sick, more freequent than the other girls had.
Speaker 1: This wasn't your first time in the rodeo. You had
Speaker 1: three children already. Was there a moment that you remember
Speaker 1: thinking something here is different.
Speaker 2: I remember the first time that Phoebe got sick. She
Speaker 2: was six months old and she had pneumonia. Have photos
Speaker 2: because it was Christmas, and I remember my family members saying.
Speaker 5: She looks really sick, Sarah.
Speaker 2: As it turned out, it was kind of the first
Speaker 2: in a series of her getting sick or having there
Speaker 2: be an issue, getting better and thinking, Okay, that was
Speaker 2: just a fluke, that's not going to happen again.
Speaker 1: As Phoebe grew, signs that something was wrong continued to
Speaker 1: pop up.
Speaker 2: The Next time she was really sick, she was about
Speaker 2: two and a half and she just was not getting better.
Speaker 2: I'd brought her in several times. They gave her an
Speaker 2: antibatic and maybe she was a little better, but not great.
Speaker 2: And then they did a steroid run and that still
Speaker 2: didn't get things better, and so I ended up bringing
Speaker 2: her into the er because she was having trouble breathing
Speaker 2: one night and they admitted her, which I was I
Speaker 2: remember being surprised about. They wanted to do a CT
Speaker 2: of her sinuses and I just thought that's ridiculous. She
Speaker 2: didn't really have a runny nose. It seemed more like
Speaker 2: a cough that was bothering her. And as it turned out,
Speaker 2: the doctor the eant that read the report from the radiologist,
Speaker 2: he said, this is the worst sinus infection he's ever
Speaker 2: seen in a two year old. She was put on
Speaker 2: an antibiotic that I later learned two year olds are
Speaker 2: not put on, but she was on it for eight weeks.
Speaker 1: Sarah brought Phoebe home, hoping this antibiotic would fix things.
Speaker 1: But after eight weeks on potent antibiotics, new symptoms manifest.
Speaker 1: Phoebe begins to show signs of gas, true intestinal issues
Speaker 1: so severe that Sarah rushes her back to the hospital.
Speaker 5: They ended up admitting her.
Speaker 2: And what I realized in that hospitalization is that they
Speaker 2: didn't actually believe me. They were basically testing to see
Speaker 2: if I was lying, if I was making it up,
Speaker 2: if I was exaggerating.
Speaker 1: What did they think that it was Munchausen by proxy.
Speaker 1: Munchausen by proxy is a mental health condition in which
Speaker 1: a caregiver fabricates or induces illness in their dependent to
Speaker 1: gain attention or sympathy. The condition can also be known
Speaker 1: as factitious disorder imposed on another or FDIA. They never
Speaker 1: said that.
Speaker 2: I assume that's what they thought, because this doctor I
Speaker 2: remember him coming in and him just being he was
Speaker 2: just very doubtful of what I was saying. And then
Speaker 2: they confirmed, like, oh, yeah, she does have some of
Speaker 2: the gastritis from the antabatic and so they discontinued it.
Speaker 2: And I said, well, what are we going to do?
Speaker 2: What's the other option? And they didn't actually put her
Speaker 2: on anything more. And I said, but we were just
Speaker 2: here at the same hospital and they said, this is
Speaker 2: the worst infection they've ever seen, and we're just she's
Speaker 2: going off of it. They basically said, yes, they did
Speaker 2: not send her home with any antabatic.
Speaker 1: So how were the doctors explaining these early health struggles.
Speaker 5: They really weren't.
Speaker 2: We went and saw one of the doctors in this
Speaker 2: practice that I had seen, you know, years prior, and
Speaker 2: she was an immunologist and she did some pretty extensive
Speaker 2: immune system testing and she basically came to the conclusion
Speaker 2: that Phoebe's immune system was dysregulated.
Speaker 5: It was kind of.
Speaker 2: Hyperreactive, and she had some low immuno globulins, but nothing
Speaker 2: that fitted diagnosis that she could have regular treatment for.
Speaker 2: And so they put her on kind of a prophylactic
Speaker 2: antabatic that kept her from getting infections. She didn't really
Speaker 2: have a real specific diagnosis other than frequent infections, and
Speaker 2: she really, for the most part, infection wise, was pretty good.
Speaker 1: By around four years old, Phoebe began to recognize herself
Speaker 1: that something was definitely not quite right. When is the
Speaker 1: first time that you remember your earliest memories of dealing
Speaker 1: with health issues.
Speaker 3: My first memory of pain was my ankle pain. That
Speaker 3: was horrible. No one could tell me why that was happening,
Speaker 3: and it disrupted my sleep a lot.
Speaker 1: That was really bad.
Speaker 2: The ankle pain actually started around the time of her
Speaker 2: sinus infection, and that ankle pain was persistent really for years.
Speaker 1: What kind of pain are we talking about? Was it
Speaker 1: just a soreness, an ache.
Speaker 3: Just kind of like a dull pain, That's the best
Speaker 3: way I can explain it. And it got worse with
Speaker 3: like something over it. I could walk perfectly fine. It
Speaker 3: wasn't a problem with the bone.
Speaker 1: How did that impact you in terms of school and
Speaker 1: sports and things like that.
Speaker 3: Honestly, like I just kind of powered through as much
Speaker 3: as I could. No one could do anything. No medication helped.
Speaker 3: I mean, my pain talent was pretty high by the
Speaker 3: end of it, so it only really really disrupted my sleep.
Speaker 1: I remember that, barely five years old, Phoebe was already
Speaker 1: learning to live with chronic pain and discomfort. Next, her
Speaker 1: vision starts to fail.
Speaker 3: That was hard as a kindergartener with like an eye
Speaker 3: patch walking around.
Speaker 2: She was complaining of black spots in her field of vision,
Speaker 2: and I myself, like, sometimes see black spots if you
Speaker 2: stand up too fast, or you know, blood pressure kind
Speaker 2: of changes. But then the doctor looked in her eyes.
Speaker 2: He goes, you know, I think I see something, and
Speaker 2: I'm going to send you to a retinal specialist tomorrow,
Speaker 2: and then she was diagnosed with retinal vasculitis, where fluid
Speaker 2: was leaking out of the vessels in the back of
Speaker 2: her eye. They didn't know why it was happening.
Speaker 3: You know, at that age specifically, you see doctors as
Speaker 3: like literally your heroes. They're supposed to know everything. They
Speaker 3: are the smartest of the smartest. So when people were like, oh,
Speaker 3: I don't know, I was like, what do you mean
Speaker 3: you don't know? I became a parent very young that
Speaker 3: I was not a cookie cutter.
Speaker 1: Case in and out of doctor's offices, Juggling a growing
Speaker 1: list of strange and seemingly disconnected symptoms, Sarah was increasingly
Speaker 1: on edge, waiting for the next shoe to drop. She
Speaker 1: remembers the day it hit the floor vividly.
Speaker 2: It was a Saturday, it was in the fall, and
Speaker 2: it was a beautiful day. She had been playing outside
Speaker 2: with the neighbor kids. And I remember thinking that day
Speaker 2: that this was the first normal day she had had
Speaker 2: in a while. She really seemed to feel good, and
Speaker 2: I just remember relishing like what a good day it was.
Speaker 2: And then that night she said that her tummy hurt,
Speaker 2: and you know, six year old tummy, all the kind
Speaker 2: of normal mom things that you'd say, have you gone
Speaker 2: to the bathroom? Do you want me to rub your tummy?
Speaker 2: What a heating pad?
Speaker 1: Help?
Speaker 2: And very quickly her pain really ramped up. Within an hour,
Speaker 2: she was laying on my floor just screaming and crying.
Speaker 2: And in my mind, I'm like, we just got back
Speaker 2: from the hospital. We can't go back. But because I
Speaker 2: couldn't think of anything else to do, we went to
Speaker 2: the hospital. I drove her in the car and she
Speaker 2: was not in her seatbelt, literally like contorting and writhing
Speaker 2: and she just clearly you could not get comfortable.
Speaker 3: I was in so much pain, and I remember saying,
Speaker 3: I feel like I'm going to die.
Speaker 2: She thought she was going to die. She said, thank you,
Speaker 2: mom for taking care of me.
Speaker 3: And like, no six year old knows that vocap like
Speaker 3: I work with kids, No kid knows the concept of
Speaker 3: dying is not in there like Pisa, and it wasn't
Speaker 3: in mind.
Speaker 1: I remember my mom.
Speaker 3: She would like, keep stopping at red lights. I'm like,
Speaker 3: I don't know why we're stopping at red lights.
Speaker 2: I just tried to stay calm and I said, I'm
Speaker 2: going as fast as I can we'll get there soon.
Speaker 2: We walked in and she was screaming.
Speaker 3: I just kept screaming as a lot as I was
Speaker 3: in the car.
Speaker 2: I don't even know that they asked us our name,
Speaker 2: and we just went back and they immediately gave her
Speaker 2: fentanyl and then they gave her delauded and then try
Speaker 2: to figure out what was wrong.
Speaker 1: I know, as a mother, there is this exquisite hell
Speaker 1: of acting like everything's okay when you're afraid that it's not.
Speaker 2: Oh yeah, all the time, all the time, and you know,
Speaker 2: trying not to cry and lose it myself as my
Speaker 2: six year old is crying and screaming, trying to reassure
Speaker 2: her that she was going to be okay, when I
Speaker 2: had no idea if really she was going to be okay.
Speaker 1: And once you get in to see doctors, they run
Speaker 1: another set of tests. What did those tests show?
Speaker 4: Her?
Speaker 2: Liver enzymes were sky high, a normal range of somewhere
Speaker 2: around let's say thirty or forty. Hers were in the thousands.
Speaker 2: And they started asking me, has she had access to
Speaker 2: tailan all? Did she overdose and tilan all?
Speaker 1: You know?
Speaker 2: And so then I'm racking my brain. Did she I
Speaker 2: don't think she swallowed Thailand all.
Speaker 1: Did you get any conclusive answers that day?
Speaker 2: No, they did admit her because her liver enzymes were
Speaker 2: so high and her pain was so high. She stayed
Speaker 2: in the hospital maybe three days, and it resolved on
Speaker 2: its own. It left nearly as quickly as it came on,
Speaker 2: and people just kind of shrug like, we don't know
Speaker 2: what that was.
Speaker 1: Phoebe and Sarah lead the hospital after what feels like
Speaker 1: a near death experience with no clear direction or understand
Speaker 1: of what has happened. Again, a few months past and Phoebe,
Speaker 1: now seven years old, starts to indicate to Sarah that
Speaker 1: her stomach was hurting.
Speaker 2: It was unremitting, but it wasn't so severe that she was,
Speaker 2: you know, screaming, but she complained.
Speaker 1: About it daily.
Speaker 2: They did blood tests, they did an ultrasound CT scan,
Speaker 2: MRI hid to scand look at the gallbladder and everything
Speaker 2: was negative. But she really had this unremitting pain for
Speaker 2: it was about eight weeks and finally it was recommended
Speaker 2: to consult with a surgeon because they said, well, it
Speaker 2: could be this atypical appendicitis where laps come back normal.
Speaker 2: But once you go in there they see kind of
Speaker 2: an inflamed appendix.
Speaker 1: What did they find?
Speaker 2: They found that her appendix look great. They still took
Speaker 2: it out, but they found adhesions, so scar tissue that
Speaker 2: it was actually pretty extensive on the right side of
Speaker 2: her abdominal cavity, but in particular scar tissue that was
Speaker 2: connecting her secum, which is I believe a part of
Speaker 2: the large intestine to another part of the large intestine,
Speaker 2: and so it was pulling and her surgeon, I remember,
Speaker 2: he came out kind of looking perplexed. He's like, well,
Speaker 2: this is what I saw and weced them, meaning that
Speaker 2: they released that scar tissue, and he's like, I don't
Speaker 2: know why they were there. He said, it looks kind
Speaker 2: of inflammatory to me, but there's no reason that those
Speaker 2: should be happening, and we'll just see how she feels after.
Speaker 2: And she woke up and she had no more abdominal pain.
Speaker 2: It essentially cured. It cured her pain.
Speaker 1: But this cure did not last for long. Six months later,
Speaker 1: phoebe presented with the same pain again and doctors recommended
Speaker 1: another adhesion surgery. What were you thinking when the conversation
Speaker 1: about another operation came up?
Speaker 2: You know, I really hesitated do we go in again?
Speaker 2: Is this could this be again this issue? Because there
Speaker 2: was no test for these the scar tissue, you can't
Speaker 2: see it on any scan. And I'm like, what if
Speaker 2: her pain is there and there's nothing to see.
Speaker 1: So she goes back into surgery. What happened next?
Speaker 2: He came out and he said, well, they're there again,
Speaker 2: and they're in the exact same place where they had
Speaker 2: been six months earlier.
Speaker 3: That's based scar routine every seven months. I knew the
Speaker 3: pain every time. Like once I started feeling it, I
Speaker 3: was like Mom called the surgeon that like ruins my
Speaker 3: life and I remember thinking like, no one will ever understand.
Speaker 1: We'll be right back with Symptomatic a Medical Mystery Podcast.
Speaker 1: Now back to Symptomatic a Medical Mystery Podcast. Since she
Speaker 1: was a baby, Phoebe Marshall has been living with an
Speaker 1: expanding list of health issues. Infections that escalate to the
Speaker 1: point of hospitalization, inflammation, joint pain, even vision loss. Her mother, Sarah,
Speaker 1: has done the best she can while facing constant dismissal
Speaker 1: from the medical community. Now, a recurring surgery to remove
Speaker 1: adhesions in her abdomen, required twice a year, would become
Speaker 1: Phoebe's life.
Speaker 3: I mean, it was hard to get surgery every seven
Speaker 3: to eight months. I was carrying around medication in a
Speaker 3: back at a pit line. I'd always had stuff hanging
Speaker 3: for me. There's always a reminder.
Speaker 1: So what started as exploratory surgery became maintenance.
Speaker 2: Yeah, and maintenance for a condition that's not life threatening.
Speaker 2: She didn't really have a real specific diagnosis, so honestly,
Speaker 2: no one was particularly concerned about it because it doesn't
Speaker 2: threaten her life. Really, I was the only person that
Speaker 2: was interested in finding a way to never make them
Speaker 2: happen again.
Speaker 1: As a mom, how do you balance prioritizing finding answers
Speaker 1: and dealing with these symptoms as they keep calming with
Speaker 1: out letting it take over Phoebe's identity.
Speaker 2: I don't think I let on to many people how
Speaker 2: much I thought about what happens, when the next thing happens,
Speaker 2: what will the next thing be? And so I did
Speaker 2: a lot of nighttime scrolling of the Internet looking for symptoms,
Speaker 2: matching them to diagnoses, looking for people, for researchers, for
Speaker 2: doctors across the United States that might have answers that
Speaker 2: experts where we live didn't have. But I also think
Speaker 2: getting her involved in therapy early on was helpful.
Speaker 4: My name is doctor Jade Rafferty. I am a pediatric psychologist.
Speaker 4: The pediatric part means that I specialize in kids with
Speaker 4: medical conditions.
Speaker 1: Doctor Jade Rafferty is Phoebe's psychologist. Tell me a little
Speaker 1: bit about your first memory of meeting Phoebe.
Speaker 5: So I met her when I was working in pain clinic.
Speaker 4: She was eight, so I've known her for a long time,
Speaker 4: but I don't remember her as much as I remember Sarah.
Speaker 5: She kept sending.
Speaker 4: Messages and she kept attaching these articles that I got.
Speaker 5: To be honest, I had no idea what they meant.
Speaker 4: They were such complex scientific articles that I was like, yeah,
Speaker 4: I don't.
Speaker 5: Know what this means.
Speaker 4: And unfortunately, and I think it is important to share this,
Speaker 4: Like I am ashamed that I did contribute to some
Speaker 4: of that skepticism or had that skepticism when I first
Speaker 4: met them, you know, like what is really going on here?
Speaker 4: I didn't fully understand at that point in my career
Speaker 4: how complex a brain and body can be. And Phoebe
Speaker 4: at that time was a closed book. You could not
Speaker 4: get her to say a whole lot of anything.
Speaker 5: So I did.
Speaker 4: Spend a lot of time sitting there trying to ask
Speaker 4: her questions.
Speaker 1: Sarah remembers this too.
Speaker 2: She kind of saw Jade as this nosy person that
Speaker 2: was asking her all these personal questions, and I'm like, well,
Speaker 2: you know, you can tell her whatever you want to
Speaker 2: tell her, like that's what she's there for. And there
Speaker 2: was this light that went I'm like, oh, I didn't
Speaker 2: know I could like talk to her about things.
Speaker 1: What has been the most difficult part for you of
Speaker 1: growing up with these ever changing, evolving symptoms. I think
Speaker 1: a lot of people.
Speaker 3: Already struggle with trusting other people, but my medical stuff
Speaker 3: goes outside of the doctor. I have a really hard
Speaker 3: time trusting other people, like my friends. I don't open
Speaker 3: up to my friends a lot.
Speaker 1: They know I have.
Speaker 3: Medical stuff, they know I struggle, but I've been taught
Speaker 3: over and over that no one wants to hear it.
Speaker 3: I think also, my story is so complex, it's really hard.
Speaker 3: Even to this day, it's really hard to explain to
Speaker 3: my friends. I remember one time I was in the hospital.
Speaker 3: It was just after one of my surgeries. I get
Speaker 3: really weak after my surgeries, and I remember my neuralogist
Speaker 3: ended up coming in to do I'm gonna get it
Speaker 3: wrong and EMG something where like you poke the muscles
Speaker 3: and you see how tired they get. But he was like,
Speaker 3: let's just do one now after surgery to see and
Speaker 3: the EMG.
Speaker 2: Came back normal.
Speaker 3: There was nothing really shown there, and I don't think
Speaker 3: he was like, oh, that means they're faking it, but
Speaker 3: like the look of confusion on his face, like I
Speaker 3: wanted so badly just to tell them, like I promise
Speaker 3: you on everything I love, this is real.
Speaker 1: I know. Phoebe spoken about how she felt dismissed.
Speaker 2: Mm hmm, we all did we all?
Speaker 1: Did you know?
Speaker 2: It was very, very difficult, And I think I saw
Speaker 2: the doubt from doctors and like what I intuited was
Speaker 2: that they felt like this family needs help and they
Speaker 2: need some mental health support.
Speaker 1: Though Phoebe's physical symptoms went far beyond the boundaries of
Speaker 1: mental health and should not have been minimized, doctor Jade
Speaker 1: recognizes the emotional impact of what their family was going through.
Speaker 5: Well, it impacts the entire family system.
Speaker 4: We're not taught how to be parents, let alone parents
Speaker 4: of children with chronic illness.
Speaker 5: How do we help kids.
Speaker 4: Be independent even if we're having to give them IVS right,
Speaker 4: or how do we help kids go back to school
Speaker 4: even if they're a new system is compromised. For me,
Speaker 4: I see it all as health and I wish and
Speaker 4: dream that all kids could get mental health care. But
Speaker 4: then when you add on all of the levels of
Speaker 4: chronic illness, it impacts and changes how children and their
Speaker 4: families develop, and that I think is really a key
Speaker 4: component of some of the work that I do.
Speaker 1: Now ten years old, Phoebe has undergone an adhesion surgery
Speaker 1: every six to eight months for the last four years.
Speaker 1: These surgeries are invasive, painful, and leave her with extended
Speaker 1: post operative weakness, unable to roll over or even hold
Speaker 1: up her head. Phoebe missed months of school every year
Speaker 1: as a result. Sarah was unable to accept this as
Speaker 1: her daughter's continued fate.
Speaker 2: I was probably the only person whose quest it was
Speaker 2: to find a way to not do these surgeries anymore,
Speaker 2: because it did impact her quality of life. Who wants
Speaker 2: to go into surgery once or twice a year and
Speaker 2: then be in the hospital for a week. I didn't
Speaker 2: want that for her for so many reasons. She was
Speaker 2: still having symptoms that weren't in just one organ system.
Speaker 2: They were across multiple organ systems, and so many of
Speaker 2: her individual diagnoses were rare in and of themselves, And
Speaker 2: it's like, how can one person have so many things
Speaker 2: that are otherwise rare in one short life experience? I
Speaker 2: was desperate for answers.
Speaker 1: In twenty seventeen, after years of pounding the pavement in
Speaker 1: search of answers to their many questions, Sarah came across
Speaker 1: the Undiagnosed Diseases Network.
Speaker 2: I found another parent who lived in Wisconsin at the time,
Speaker 2: and she and her children had just been seen at
Speaker 2: the UDN. And when she told me about the ud
Speaker 2: AND I had never heard of it before, and I thought,
Speaker 2: we have to go. This is where we'll find answers.
Speaker 1: Can you tell me about your first experience with them?
Speaker 2: So I called the number on their website and a
Speaker 2: man named Paul answered the phone, and he was wonderful.
Speaker 2: I spoke to him for about an hour. He listened
Speaker 2: to my story, he answered my questions, and really it
Speaker 2: was maybe the first time in talking to a complete
Speaker 2: stranger that was curious and interested and validated that we
Speaker 2: weren't crazy, that there was hope. He described this program
Speaker 2: that offered both the clinical and the research component. You know,
Speaker 2: I had my heart set on making sure that we
Speaker 2: made it into the study.
Speaker 1: And because of Sarah's diligent advocacy, they did. Phoebe and
Speaker 1: her family then traveled to the nearest Utian research site
Speaker 1: in Boston. What do you remember about your trip to Boston.
Speaker 3: I didn't really understand much about it.
Speaker 1: There was a pool at the hotel. I was excited
Speaker 1: for that, but.
Speaker 3: I remember it was a lot of appointments they had
Speaker 3: to crampack all these specialists into one week. I fell
Speaker 3: asleep at probably more than half of them. And it's
Speaker 3: a new person examining me, looking at my ears, touching
Speaker 3: my joints like so, that's a lot for an eight
Speaker 3: year old. I remember, God, bless my mom. I would
Speaker 3: get so irritated with her at appointments because I just
Speaker 3: wanted to go home.
Speaker 1: I was so tired.
Speaker 5: Yeah, that was hard.
Speaker 2: We went to Boston Children's they did their clinical evaluation.
Speaker 2: They took our blood as family and said, you know,
Speaker 2: we're going to send this off and sequence her exom
Speaker 2: to see if we can find any genetic possibilities for
Speaker 2: what's causing all of these symptoms of hers. And then
Speaker 2: we waited a long time.
Speaker 1: Months went by after their trip to Boston as the
Speaker 1: Union continued their research. While they waited for results, Phoebe
Speaker 1: was hit with new persistent back pain.
Speaker 2: We saw an orthopedic spine surgeon and they said, oh, well,
Speaker 2: she has this thing called Bertolotti syndrome and it's extra
Speaker 2: bone in your lower spine. And the recommendation that came
Speaker 2: back was spinal fusion. I was like, that seems kind
Speaker 2: of extreme, but we tried physical therapy and it didn't
Speaker 2: really do anything, and so then finally she had spinal fusion.
Speaker 1: After this surgery, Phoebe is hit with a horrible postop infection.
Speaker 1: She's forced to go under five more times in order
Speaker 1: for doctors to open her up and clean out her wound.
Speaker 1: When she finally recovers, the pain in her spine is gone,
Speaker 1: but Sarah is even more desperate for the results from
Speaker 1: the Udian study. Finally, after an agonizing weight the Udion
Speaker 1: shares the results of their initial tests, but the results
Speaker 1: are not immediately what Sarah has hoped for.
Speaker 2: So they did xome that came back nothing, but they
Speaker 2: couldn't tell me, and so I was frustrated, What do
Speaker 2: you mean you can't tell me.
Speaker 1: An exome study analyzes the protein coding parts of your DNA.
Speaker 1: Because the results of the exome study were inconclusive, the
Speaker 1: UDN decides to run a genome study, which examines the
Speaker 1: entire DNA sequence. Again, the family waits while they evaluate
Speaker 1: this more in depth sequencing. But finally, months after they
Speaker 1: begin this testing, and years after Sarah first noticed something
Speaker 1: was wrong with Phoebe's health, the team at UDN tells
Speaker 1: Sarah that there is a mutation GDF eleven.
Speaker 2: It's a loss of function of GDF eleven.
Speaker 1: The first time you remember seeing in print an actual name,
Speaker 1: an explanation in terms of GDF eleven. What did that
Speaker 1: mean to you?
Speaker 2: For people that live undiagnosed, it's it's the dream come true.
Speaker 2: It's like, oh, this is the name, this is the diagnosis.
Speaker 2: It's hard to put into words, just how how thrilling
Speaker 2: it is, you know, to finally have a name. You
Speaker 2: knew there was something for years and years and years,
Speaker 2: for over a decade, you knew even when there were
Speaker 2: so many people, doctors, family members, friends, who doubted that
Speaker 2: really that there was something wrong.
Speaker 3: I was thirteen at the time. Honestly, I don't think
Speaker 3: I understood the gravity of it. I wouldn't be where
Speaker 3: I am without the Union and the GDF eleven diagnosis.
Speaker 1: But GDF eleven was a newly identified gene, which means
Speaker 1: that there was little understanding of how to proceed.
Speaker 2: Honestly, the feeling was what next. This is a newly
Speaker 2: identified gene, it's a newly identified disease. More or less
Speaker 2: no one knew anything about its treatments for it, and
Speaker 2: so it's this new journey now of what do you
Speaker 2: do with it? How do you understand these changes, and
Speaker 2: how do you improve the quality of life.
Speaker 1: This was the next step in the Union led research journey.
Speaker 1: Enter doctor Hugo Bellin at the Model Organism Screening Center
Speaker 1: at Baylor College of Medicine.
Speaker 6: My name is Hugo Bellin, and I'm a doctor in
Speaker 6: veterinary medicine and a PhD in genetics.
Speaker 1: Doctor Bellin runs the Belen Lab at Baylor and can
Speaker 1: be credited with discovering over sixty novel diseases within the
Speaker 1: genetic research field. Doctor Bellin has been admirably dubbed the
Speaker 1: Lord of the Flies.
Speaker 6: I started working with fruit flies because fruit flies were
Speaker 6: a superb genetics system probably the best and still the
Speaker 6: best system in the sense that you can manipulate flies
Speaker 6: genetically very elegantly. And that drew me to the field,
Speaker 6: and I've stayed in the field forever.
Speaker 1: And how is your work connected to the undiagnosed diseases network?
Speaker 6: It turns out that about eighty percent of the rare
Speaker 6: disease patients have genetic lesions. The problem is very often
Speaker 6: that they find potential genes, but they've never been associated
Speaker 6: with a human disease. They don't know if the gene
Speaker 6: could be responsible because the gene is not recorded as
Speaker 6: causing a human disease. So how do you solve that question?
Speaker 6: In this case for GDF eleven, there are six patients
Speaker 6: and we tested these six different variants in fruit flies.
Speaker 1: What were the GDF eleven research findings.
Speaker 6: The GDF eleven gene is expressed mostly in muscles as
Speaker 6: well as in specific cells in the brain, clear cells,
Speaker 6: as well as in many other organs. And what it
Speaker 6: is is kind of like a hormone. It's a protein
Speaker 6: that's made by cells that's secrete it and it's processed
Speaker 6: and secreted in the blood and can circulate in fluids,
Speaker 6: not necessarily just the blur.
Speaker 1: And how does that manifest in the body.
Speaker 6: For GDF eleven, morphological deformities are one of the key
Speaker 6: features in patients. They have bone deformities, and they have
Speaker 6: phase problems, and their face is not properly developed sometimes
Speaker 6: at extra rip. Those are morphological changes in structure. We
Speaker 6: know that the gene can also cause problems with adherence
Speaker 6: tissue adherents in the bone and apparently in the gut.
Speaker 6: And so because it's such a broad pathway, you know,
Speaker 6: you can secrete this protein from many sources and it
Speaker 6: can bind to lig in to the receptors many different
Speaker 6: cells and control the activity and the function of these cells.
Speaker 1: The MOSC study, including doctor Bellin's research, comes out in
Speaker 1: twenty twenty one, and Sarah pours over the research findings
Speaker 1: desperately trying to understand if there is any way she
Speaker 1: can do something with them to help find Phoebe some relief.
Speaker 1: She contacts Udienne and requests that they organize a meeting
Speaker 1: with doctor Bellin. Do you have any memory of that
Speaker 1: meeting or your first impressions of Sarah.
Speaker 6: Yeah, Sarah has been incredibly active and in a way proactive.
Speaker 6: She's been really an advocate for the Undiagnosed Diseases Network
Speaker 6: because of her experience trying to kind of figure out
Speaker 6: how she can help her daughter.
Speaker 1: Though there was no treatment established for Phoebe's condition at
Speaker 1: this time, Sarah was not willing to accept that as
Speaker 1: the final ruling. With the MOSC study in d hand,
Speaker 1: she charged forward.
Speaker 2: So I listened to a speaker. His name is Matt
Speaker 2: Might out of University of Alabama Precision Medicine, and he
Speaker 2: talked about how understanding gene changes can help medicine understand
Speaker 2: pathways in people's bodies that might be causing issues. So
Speaker 2: he talked about a specific example of a kid with epilepsy,
Speaker 2: and they understood her gene change and came to some
Speaker 2: ideas for treatments that were not FDA proof for epilepsy,
Speaker 2: but that they thought might kind of aid that genetic
Speaker 2: change in that pathway. So I approached him and his
Speaker 2: staff and told him about Phoebe's gene change at GDF eleven,
Speaker 2: and they took a look at it and they said,
Speaker 2: you know, we think that this particular gene influences an
Speaker 2: inflammatory pathway and that because of her loss of function,
Speaker 2: that she may have more inflamma in her body than
Speaker 2: what she should. So we think this drug called humor,
Speaker 2: which dampens inflammation, might help with these adhesions.
Speaker 1: A drug that already exists commonly used to target overactive
Speaker 1: inflammation and patients who suffer from rheumatoid arthritis, may work
Speaker 1: to address some of the symptoms related to Phoebe's rare
Speaker 1: and newly identified condition.
Speaker 6: And by networking and trying to connect with other teams
Speaker 6: and by being part of a Terrapautics matching committee, she's
Speaker 6: kind of discovered that there is a drug that helps
Speaker 6: foe behind. That is this drug that kind of is
Speaker 6: involved in the immune system, and she was true connections.
Speaker 6: She's the one who discovered these true connections.
Speaker 1: So how has Phoebe's life changed since she made that connection.
Speaker 2: She has not had one surgery for her adhesions, so
Speaker 2: in four years, over four years, that's incredible, It is incredible.
Speaker 1: But you also have discovered a treatment because you were
Speaker 1: so desperate to find relief for your daughter, and doctor
Speaker 1: Mom figured that out.
Speaker 2: Doctor Mom pushed for at least trying something. I think
Speaker 2: it's really improved her quality of life. This is her
Speaker 2: fourth year of high school since she's been in high school.
Speaker 2: She hasn't really been in the hospital. She just wants
Speaker 2: to be normal and look normal and be a part
Speaker 2: of the crowd with the kids, and so it's allowed
Speaker 2: her to do that.
Speaker 3: My mom is probably the most impressive woman I've ever met.
Speaker 3: And I'm not just saying that because she's my mom,
Speaker 3: Like genuinely, if she wants something, especially for her kids,
Speaker 3: she'll get it. I am so lucky to have a
Speaker 3: mom literally rides it down for me.
Speaker 5: She will do anything for me.
Speaker 1: Because of Sarah's tireless advocacy, Phoebe has a bright future
Speaker 1: ahead of her while she prepares to have off to college. Sarah,
Speaker 1: motivated by her own journey, continues to fight for others
Speaker 1: living with undiagnosed diseases. So tell me a little bit
Speaker 1: about your work that you do with UDN.
Speaker 2: Now, I became a part of this peer patient engagement
Speaker 2: and empowerment resource, our group, this patient group became very
Speaker 2: involved in the sustainability and interested in the sustainability of
Speaker 2: the UDN.
Speaker 5: As a resource.
Speaker 2: So our group, I won't say single handedly, but we
Speaker 2: had a large voice in a couple of different things.
Speaker 2: One is connecting with legislators across the country to educate
Speaker 2: them about the UDN and the importance of the UDN,
Speaker 2: and also in establishing a nonprofit called the Undiagnosed Diseases
Speaker 2: Network Foundation that is a foundation that was created by
Speaker 2: patients for patients to support patients and families and also
Speaker 2: support the quest of finding answers for all undiagnosed patients.
Speaker 3: I hear her on phone calls with patients and like
Speaker 3: it's not a job to her, she really cares about
Speaker 3: these people. She cares about the stories. She wants them
Speaker 3: to feel seen because she knows what it feels like
Speaker 3: to not be seen. And it's important because so many
Speaker 3: people are undiagnosed. But everyone, kids especially deserve to have
Speaker 3: the chance out a good quality of life. And the
Speaker 3: UDN and then UTI and F offers people a chance
Speaker 3: I think at life and to see themselves thrive.
Speaker 1: A gift that Phoebe herself does not take for granted.
Speaker 1: What are you most excited for and hopeful about?
Speaker 3: Truly becoming the person I needed when I was a
Speaker 3: kid and I had so many people. I think being
Speaker 3: a social worker is kind of my way of giving
Speaker 3: back to people who believed to me. Why I couldn't
Speaker 3: believe in myself, you know, I think that's I'm excited
Speaker 3: for that.
Speaker 2: In the United States, there are thirty million Americans with
Speaker 2: a rare disease, and it takes on average seven years
Speaker 2: to get to a diagnosis, and the cost to individuals,
Speaker 2: to families, to society is more than it needs to be.
Speaker 2: And resources like the UDON can shorten that time to
Speaker 2: a diagnosis that allows people to live their best lives.
Speaker 2: And that's what we all want. Not only do we
Speaker 2: want that as mothers and fathers and neighbors and friends, but.
Speaker 1: We want that as a society.
Speaker 2: We want everyone in society to be able to attend school,
Speaker 2: to be able to attend work, and feel and be productive.
Speaker 2: And that's why a resource like the UDON is essential.
Speaker 1: What is the message you want people to take away
Speaker 1: from your story.
Speaker 3: I've always told myself my thoughts are powerful. I think
Speaker 3: it's important in the chronic illness world and in just
Speaker 3: like regular life, that you determine the outcome. If you
Speaker 3: get up every day, as hard as it is, and
Speaker 3: continue the fight, surround yourself with people who love you
Speaker 3: and that you love, there is hope for a better life.
Speaker 3: My name is Phoebe Marshall, and it took ten years
Speaker 3: of searching for answers until I got a diagnosis of
Speaker 3: a loss of function in GDF eleven.
Speaker 1: The Undiagnosed Diseases Network Foundation can be found at UDNF
Speaker 1: dot org. As we wrap up another season of Symptomatic,
Speaker 1: we want to say thank you to all of our
Speaker 1: dedicated listeners. This season brought us stories that remind us
Speaker 1: of the power of resilience and the impact of advocacy
Speaker 1: and the rare disease community. We heard from a father
Speaker 1: who devoted his life to find out being a cure
Speaker 1: for his daughter's condition, from three generations of one family
Speaker 1: who finally found relief after decades of searching, and from
Speaker 1: so many others who have transformed their pain into purpose.
Speaker 1: We can't wait to share more with you next season.
Speaker 1: As always, we would love to hear from you. Send
Speaker 1: us your thoughts on this episode or share a medical
Speaker 1: mystery of your own at Symptomatic at iHeartMedia dot com,
Speaker 1: and please rate and review Symptomatic wherever you get your podcasts.
Speaker 1: We'll see you next time, and until then, be well.
Speaker 1: Symptomatic a medical mystery podcast, is a production of iHeartMedia's
Speaker 1: Ruby Studio. Our show is hosted by me Lauren Bright Pacheco.
Speaker 1: Our executive producers are James Foster, Matt Ramano, and myself.
Speaker 1: Our supervising producers are Ryan Ovadia, Haley Aliah Ericson, and
Speaker 1: Daniel Ainsworth. This episode was written by Haley Aliah eric
Speaker 1: Sen and edited by Samuel Richardson.