December 23, 2025 • 41 mins
Sarah Marshall knew from only a few months into her fourth daughter Phoebe's life that something was definitely wrong. By the time Phoebe was six, Sarah began to fear for her daughter's life. She underwent countless tests, dozens of surgeries, and was in and out of the hospital for years. Phoebe’s health was declining and no one could tell their family what was wrong. Desperate for answers and unwilling to give up on her daughter, Sarah contacted the Undiagnosed Diseases Network - a decision that would change their lives forever.
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You can find more information about the Undiagnosed Diseases Network Foundation at https://udnf.org/.
You can learn more about the Model Organisms Screening Centers (MOSC) and Dr. Hugo Bellen’s work at https://flypush.research.bcm.edu/lab/
See omnystudio.com/listener for privacy information.
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Transcript
Episode Transcript
Available transcripts are automatically generated. Complete accuracy is not guaranteed.
Speaker 1 (00:03):
Ruby.
Speaker 2 (00:06):
She was not in her seatbelt, literally like contorting, and
she just clearly you could not get comfortable. The pain
was so severe, and I remember her thanking me for
taking care of her, as if she thought she was
gonna die.
Speaker 3 (00:20):
You know, at that age specifically, you see doctors as
like literally your heroes. They're supposed to know everything, and
so when people were like, oh, I don't know, that
was like, Oh, what do you mean you don't know?
Speaker 4 (00:32):
I am ashamed that I did contribute to some of
that skepticism when I first met them.
Speaker 5 (00:38):
I didn't fully understand at that point in my.
Speaker 4 (00:41):
Career how complex a brain and body can be.
Speaker 3 (00:45):
I promise you, like on everything I love, this is real.
Speaker 1 (00:49):
How terrifying would it be to fight an unknown enemy,
one you didn't recognize and didn't see coming. What if
that enemy was coming from within a disease that even
doctors couldn't identify. Nearly half of Americans suffer from some
chronic illness, and many struggle for an accurate diagnosis. These
(01:10):
are their stories. I'm Lauren Bray Pacheco, and this is symptomatic.
Sarah Marshall is without a doubt on the list for
Mother of the year. Having come from a background in
social work, she has taught her children the value of
community and the importance of advocacy. She's smart, intuitive, and
(01:34):
fierce in her defense of what's right. She is a
mother to four daughters that span eight years.
Speaker 2 (01:41):
My girls are incredibly close. Growing up, they didn't fight
all that much, but when they did, I would basically
tell them that person is your sister and she will
be your sister the rest of your life, and you
can't treat her like that. I only remember saying that
maybe once or twice, but they still talk about that message.
It's really a special bond that they all have.
Speaker 1 (02:02):
The youngest of Sarah's daughters is Phoebe.
Speaker 3 (02:05):
My name is Phoebe Marshall and I'm seventeen years old.
Speaker 1 (02:10):
How do you spend your time when you're not in school?
Speaker 3 (02:12):
I work at an after school childcare program that takes
up a lot of my time.
Speaker 1 (02:16):
I really like working.
Speaker 3 (02:17):
I'm a pretty average Shange girl. I hang up with
my friends, go on food trips, homework, all the regular things.
Speaker 1 (02:25):
And I'm sure that being the baby of the bunch,
Phoebe grew up with four mothers in the house indeed
very much Influenced by the inspirational work that her mother does,
Phoebe has already made the decision to follow in her
footsteps professionally.
Speaker 3 (02:41):
I am going to study social work. I want to
first be in the child welfare system with CPS, and
then once I get married and have kids and need
a more slow moving job, I'm going to be a
school social worker.
Speaker 1 (02:55):
From an early age, Sarah noticed that Phoebe seemed to
be getting sick, more freequent than the other girls had.
This wasn't your first time in the rodeo. You had
three children already. Was there a moment that you remember
thinking something here is different.
Speaker 2 (03:11):
I remember the first time that Phoebe got sick. She
was six months old and she had pneumonia. Have photos
because it was Christmas, and I remember my family members saying.
Speaker 5 (03:23):
She looks really sick, Sarah.
Speaker 2 (03:25):
As it turned out, it was kind of the first
in a series of her getting sick or having there
be an issue, getting better and thinking, Okay, that was
just a fluke, that's not going to happen again.
Speaker 1 (03:38):
As Phoebe grew, signs that something was wrong continued to
pop up.
Speaker 2 (03:43):
The Next time she was really sick, she was about
two and a half and she just was not getting better.
I'd brought her in several times. They gave her an
antibatic and maybe she was a little better, but not great.
And then they did a steroid run and that still
didn't get things better, and so I ended up bringing
her into the er because she was having trouble breathing
(04:05):
one night and they admitted her, which I was I
remember being surprised about. They wanted to do a CT
of her sinuses and I just thought that's ridiculous. She
didn't really have a runny nose. It seemed more like
a cough that was bothering her. And as it turned out,
(04:26):
the doctor the eant that read the report from the radiologist,
he said, this is the worst sinus infection he's ever
seen in a two year old. She was put on
an antibiotic that I later learned two year olds are
not put on, but she was on it for eight weeks.
Speaker 1 (04:42):
Sarah brought Phoebe home, hoping this antibiotic would fix things.
But after eight weeks on potent antibiotics, new symptoms manifest.
Phoebe begins to show signs of gas, true intestinal issues
so severe that Sarah rushes her back to the hospital.
Speaker 5 (05:00):
They ended up admitting her.
Speaker 2 (05:01):
And what I realized in that hospitalization is that they
didn't actually believe me. They were basically testing to see
if I was lying, if I was making it up,
if I was exaggerating.
Speaker 1 (05:14):
What did they think that it was Munchausen by proxy.
Munchausen by proxy is a mental health condition in which
a caregiver fabricates or induces illness in their dependent to
gain attention or sympathy. The condition can also be known
as factitious disorder imposed on another or FDIA. They never
(05:36):
said that.
Speaker 2 (05:37):
I assume that's what they thought, because this doctor I
remember him coming in and him just being he was
just very doubtful of what I was saying. And then
they confirmed, like, oh, yeah, she does have some of
the gastritis from the antabatic and so they discontinued it.
And I said, well, what are we going to do?
What's the other option? And they didn't actually put her
(05:59):
on anything more. And I said, but we were just
here at the same hospital and they said, this is
the worst infection they've ever seen, and we're just she's
going off of it. They basically said, yes, they did
not send her home with any antabatic.
Speaker 1 (06:13):
So how were the doctors explaining these early health struggles.
Speaker 5 (06:20):
They really weren't.
Speaker 2 (06:21):
We went and saw one of the doctors in this
practice that I had seen, you know, years prior, and
she was an immunologist and she did some pretty extensive
immune system testing and she basically came to the conclusion
that Phoebe's immune system was dysregulated.
Speaker 5 (06:39):
It was kind of.
Speaker 2 (06:40):
Hyperreactive, and she had some low immuno globulins, but nothing
that fitted diagnosis that she could have regular treatment for.
And so they put her on kind of a prophylactic
antabatic that kept her from getting infections. She didn't really
have a real specific diagnosis other than frequent infections, and
(07:03):
she really, for the most part, infection wise, was pretty good.
Speaker 1 (07:08):
By around four years old, Phoebe began to recognize herself
that something was definitely not quite right. When is the
first time that you remember your earliest memories of dealing
with health issues.
Speaker 3 (07:23):
My first memory of pain was my ankle pain. That
was horrible. No one could tell me why that was happening,
and it disrupted my sleep a lot.
Speaker 1 (07:35):
That was really bad.
Speaker 2 (07:36):
The ankle pain actually started around the time of her
sinus infection, and that ankle pain was persistent really for years.
Speaker 1 (07:43):
What kind of pain are we talking about? Was it
just a soreness, an ache.
Speaker 3 (07:49):
Just kind of like a dull pain, That's the best
way I can explain it. And it got worse with
like something over it. I could walk perfectly fine. It
wasn't a problem with the bone.
Speaker 1 (08:00):
How did that impact you in terms of school and
sports and things like that.
Speaker 3 (08:06):
Honestly, like I just kind of powered through as much
as I could. No one could do anything. No medication helped.
I mean, my pain talent was pretty high by the
end of it, so it only really really disrupted my sleep.
Speaker 1 (08:19):
I remember that, barely five years old, Phoebe was already
learning to live with chronic pain and discomfort. Next, her
vision starts to fail.
Speaker 3 (08:28):
That was hard as a kindergartener with like an eye
patch walking around.
Speaker 2 (08:32):
She was complaining of black spots in her field of vision,
and I myself, like, sometimes see black spots if you
stand up too fast, or you know, blood pressure kind
of changes. But then the doctor looked in her eyes.
He goes, you know, I think I see something, and
I'm going to send you to a retinal specialist tomorrow,
and then she was diagnosed with retinal vasculitis, where fluid
(08:54):
was leaking out of the vessels in the back of
her eye. They didn't know why it was happening.
Speaker 3 (08:59):
You know, at that age specifically, you see doctors as
like literally your heroes. They're supposed to know everything. They
are the smartest of the smartest. So when people were like, oh,
I don't know, I was like, what do you mean
you don't know? I became a parent very young that
I was not a cookie cutter.
Speaker 1 (09:17):
Case in and out of doctor's offices, Juggling a growing
list of strange and seemingly disconnected symptoms, Sarah was increasingly
on edge, waiting for the next shoe to drop. She
remembers the day it hit the floor vividly.
Speaker 2 (09:34):
It was a Saturday, it was in the fall, and
it was a beautiful day. She had been playing outside
with the neighbor kids. And I remember thinking that day
that this was the first normal day she had had
in a while. She really seemed to feel good, and
I just remember relishing like what a good day it was.
And then that night she said that her tummy hurt,
(09:56):
and you know, six year old tummy, all the kind
of normal mom things that you'd say, have you gone
to the bathroom? Do you want me to rub your tummy?
What a heating pad?
Speaker 1 (10:06):
Help?
Speaker 2 (10:07):
And very quickly her pain really ramped up. Within an hour,
she was laying on my floor just screaming and crying.
And in my mind, I'm like, we just got back
from the hospital. We can't go back. But because I
couldn't think of anything else to do, we went to
the hospital. I drove her in the car and she
(10:32):
was not in her seatbelt, literally like contorting and writhing
and she just clearly you could not get comfortable.
Speaker 3 (10:41):
I was in so much pain, and I remember saying,
I feel like I'm going to die.
Speaker 2 (10:46):
She thought she was going to die. She said, thank you,
mom for taking care of me.
Speaker 3 (10:51):
And like, no six year old knows that vocap like
I work with kids, No kid knows the concept of
dying is not in there like Pisa, and it wasn't
in mind.
Speaker 1 (11:02):
I remember my mom.
Speaker 3 (11:03):
She would like, keep stopping at red lights. I'm like,
I don't know why we're stopping at red lights.
Speaker 2 (11:09):
I just tried to stay calm and I said, I'm
going as fast as I can we'll get there soon.
We walked in and she was screaming.
Speaker 3 (11:18):
I just kept screaming as a lot as I was
in the car.
Speaker 2 (11:20):
I don't even know that they asked us our name,
and we just went back and they immediately gave her
fentanyl and then they gave her delauded and then try
to figure out what was wrong.
Speaker 1 (11:31):
I know, as a mother, there is this exquisite hell
of acting like everything's okay when you're afraid that it's not.
Speaker 2 (11:42):
Oh yeah, all the time, all the time, and you know,
trying not to cry and lose it myself as my
six year old is crying and screaming, trying to reassure
her that she was going to be okay, when I
had no idea if really she was going to be okay.
Speaker 1 (12:01):
And once you get in to see doctors, they run
another set of tests. What did those tests show?
Speaker 4 (12:09):
Her?
Speaker 2 (12:09):
Liver enzymes were sky high, a normal range of somewhere
around let's say thirty or forty. Hers were in the thousands.
And they started asking me, has she had access to
tailan all? Did she overdose and tilan all?
Speaker 1 (12:25):
You know?
Speaker 2 (12:25):
And so then I'm racking my brain. Did she I
don't think she swallowed Thailand all.
Speaker 1 (12:31):
Did you get any conclusive answers that day?
Speaker 2 (12:35):
No, they did admit her because her liver enzymes were
so high and her pain was so high. She stayed
in the hospital maybe three days, and it resolved on
its own. It left nearly as quickly as it came on,
and people just kind of shrug like, we don't know
what that was.
Speaker 1 (12:52):
Phoebe and Sarah lead the hospital after what feels like
a near death experience with no clear direction or understand
of what has happened. Again, a few months past and Phoebe,
now seven years old, starts to indicate to Sarah that
her stomach was hurting.
Speaker 2 (13:11):
It was unremitting, but it wasn't so severe that she was,
you know, screaming, but she complained.
Speaker 1 (13:18):
About it daily.
Speaker 2 (13:20):
They did blood tests, they did an ultrasound CT scan,
MRI hid to scand look at the gallbladder and everything
was negative. But she really had this unremitting pain for
it was about eight weeks and finally it was recommended
to consult with a surgeon because they said, well, it
could be this atypical appendicitis where laps come back normal.
(13:45):
But once you go in there they see kind of
an inflamed appendix.
Speaker 1 (13:50):
What did they find?
Speaker 2 (13:52):
They found that her appendix look great. They still took
it out, but they found adhesions, so scar tissue that
it was actually pretty extensive on the right side of
her abdominal cavity, but in particular scar tissue that was
connecting her secum, which is I believe a part of
the large intestine to another part of the large intestine,
(14:15):
and so it was pulling and her surgeon, I remember,
he came out kind of looking perplexed. He's like, well,
this is what I saw and weced them, meaning that
they released that scar tissue, and he's like, I don't
know why they were there. He said, it looks kind
of inflammatory to me, but there's no reason that those
should be happening, and we'll just see how she feels after.
(14:38):
And she woke up and she had no more abdominal pain.
It essentially cured. It cured her pain.
Speaker 1 (14:45):
But this cure did not last for long. Six months later,
phoebe presented with the same pain again and doctors recommended
another adhesion surgery. What were you thinking when the conversation
about another operation came up?
Speaker 2 (15:01):
You know, I really hesitated do we go in again?
Is this could this be again this issue? Because there
was no test for these the scar tissue, you can't
see it on any scan. And I'm like, what if
her pain is there and there's nothing to see.
Speaker 1 (15:19):
So she goes back into surgery. What happened next?
Speaker 2 (15:24):
He came out and he said, well, they're there again,
and they're in the exact same place where they had
been six months earlier.
Speaker 3 (15:30):
That's based scar routine every seven months. I knew the
pain every time. Like once I started feeling it, I
was like Mom called the surgeon that like ruins my
life and I remember thinking like, no one will ever understand.
Speaker 1 (15:44):
We'll be right back with Symptomatic a Medical Mystery Podcast.
Now back to Symptomatic a Medical Mystery Podcast. Since she
was a baby, Phoebe Marshall has been living with an
(16:05):
expanding list of health issues. Infections that escalate to the
point of hospitalization, inflammation, joint pain, even vision loss. Her mother, Sarah,
has done the best she can while facing constant dismissal
from the medical community. Now, a recurring surgery to remove
adhesions in her abdomen, required twice a year, would become
(16:28):
Phoebe's life.
Speaker 3 (16:29):
I mean, it was hard to get surgery every seven
to eight months. I was carrying around medication in a
back at a pit line. I'd always had stuff hanging
for me. There's always a reminder.
Speaker 1 (16:41):
So what started as exploratory surgery became maintenance.
Speaker 2 (16:46):
Yeah, and maintenance for a condition that's not life threatening.
She didn't really have a real specific diagnosis, so honestly,
no one was particularly concerned about it because it doesn't
threaten her life. Really, I was the only person that
was interested in finding a way to never make them
(17:08):
happen again.
Speaker 1 (17:11):
As a mom, how do you balance prioritizing finding answers
and dealing with these symptoms as they keep calming with
out letting it take over Phoebe's identity.
Speaker 2 (17:25):
I don't think I let on to many people how
much I thought about what happens, when the next thing happens,
what will the next thing be? And so I did
a lot of nighttime scrolling of the Internet looking for symptoms,
matching them to diagnoses, looking for people, for researchers, for
(17:46):
doctors across the United States that might have answers that
experts where we live didn't have. But I also think
getting her involved in therapy early on was helpful.
Speaker 4 (17:59):
My name is doctor Jade Rafferty. I am a pediatric psychologist.
The pediatric part means that I specialize in kids with
medical conditions.
Speaker 1 (18:08):
Doctor Jade Rafferty is Phoebe's psychologist. Tell me a little
bit about your first memory of meeting Phoebe.
Speaker 5 (18:16):
So I met her when I was working in pain clinic.
Speaker 4 (18:18):
She was eight, so I've known her for a long time,
but I don't remember her as much as I remember Sarah.
Speaker 5 (18:26):
She kept sending.
Speaker 4 (18:27):
Messages and she kept attaching these articles that I got.
Speaker 5 (18:31):
To be honest, I had no idea what they meant.
Speaker 4 (18:35):
They were such complex scientific articles that I was like, yeah,
I don't.
Speaker 5 (18:40):
Know what this means.
Speaker 4 (18:43):
And unfortunately, and I think it is important to share this,
Like I am ashamed that I did contribute to some
of that skepticism or had that skepticism when I first
met them, you know, like what is really going on here?
I didn't fully understand at that point in my career
how complex a brain and body can be. And Phoebe
(19:06):
at that time was a closed book. You could not
get her to say a whole lot of anything.
Speaker 5 (19:13):
So I did.
Speaker 4 (19:14):
Spend a lot of time sitting there trying to ask
her questions.
Speaker 1 (19:18):
Sarah remembers this too.
Speaker 2 (19:21):
She kind of saw Jade as this nosy person that
was asking her all these personal questions, and I'm like, well,
you know, you can tell her whatever you want to
tell her, like that's what she's there for. And there
was this light that went I'm like, oh, I didn't
know I could like talk to her about things.
Speaker 1 (19:40):
What has been the most difficult part for you of
growing up with these ever changing, evolving symptoms. I think
a lot of people.
Speaker 3 (19:52):
Already struggle with trusting other people, but my medical stuff
goes outside of the doctor. I have a really hard
time trusting other people, like my friends. I don't open
up to my friends a lot.
Speaker 1 (20:06):
They know I have.
Speaker 3 (20:06):
Medical stuff, they know I struggle, but I've been taught
over and over that no one wants to hear it.
I think also, my story is so complex, it's really hard.
Even to this day, it's really hard to explain to
my friends. I remember one time I was in the hospital.
It was just after one of my surgeries. I get
(20:28):
really weak after my surgeries, and I remember my neuralogist
ended up coming in to do I'm gonna get it
wrong and EMG something where like you poke the muscles
and you see how tired they get. But he was like,
let's just do one now after surgery to see and
the EMG.
Speaker 2 (20:46):
Came back normal.
Speaker 3 (20:47):
There was nothing really shown there, and I don't think
he was like, oh, that means they're faking it, but
like the look of confusion on his face, like I
wanted so badly just to tell them, like I promise
you on everything I love, this is real.
Speaker 1 (21:04):
I know. Phoebe spoken about how she felt dismissed.
Speaker 2 (21:08):
Mm hmm, we all did we all?
Speaker 1 (21:11):
Did you know?
Speaker 2 (21:13):
It was very, very difficult, And I think I saw
the doubt from doctors and like what I intuited was
that they felt like this family needs help and they
need some mental health support.
Speaker 1 (21:32):
Though Phoebe's physical symptoms went far beyond the boundaries of
mental health and should not have been minimized, doctor Jade
recognizes the emotional impact of what their family was going through.
Speaker 5 (21:43):
Well, it impacts the entire family system.
Speaker 4 (21:46):
We're not taught how to be parents, let alone parents
of children with chronic illness.
Speaker 5 (21:51):
How do we help kids.
Speaker 4 (21:52):
Be independent even if we're having to give them IVS right,
or how do we help kids go back to school
even if they're a new system is compromised. For me,
I see it all as health and I wish and
dream that all kids could get mental health care. But
then when you add on all of the levels of
(22:13):
chronic illness, it impacts and changes how children and their
families develop, and that I think is really a key
component of some of the work that I do.
Speaker 1 (22:26):
Now ten years old, Phoebe has undergone an adhesion surgery
every six to eight months for the last four years.
These surgeries are invasive, painful, and leave her with extended
post operative weakness, unable to roll over or even hold
up her head. Phoebe missed months of school every year
as a result. Sarah was unable to accept this as
(22:48):
her daughter's continued fate.
Speaker 2 (22:50):
I was probably the only person whose quest it was
to find a way to not do these surgeries anymore,
because it did impact her quality of life. Who wants
to go into surgery once or twice a year and
then be in the hospital for a week. I didn't
(23:10):
want that for her for so many reasons. She was
still having symptoms that weren't in just one organ system.
They were across multiple organ systems, and so many of
her individual diagnoses were rare in and of themselves, And
it's like, how can one person have so many things
(23:31):
that are otherwise rare in one short life experience? I
was desperate for answers.
Speaker 1 (23:39):
In twenty seventeen, after years of pounding the pavement in
search of answers to their many questions, Sarah came across
the Undiagnosed Diseases Network.
Speaker 2 (23:50):
I found another parent who lived in Wisconsin at the time,
and she and her children had just been seen at
the UDN. And when she told me about the ud
AND I had never heard of it before, and I thought,
we have to go. This is where we'll find answers.
Speaker 1 (24:08):
Can you tell me about your first experience with them?
Speaker 2 (24:12):
So I called the number on their website and a
man named Paul answered the phone, and he was wonderful.
I spoke to him for about an hour. He listened
to my story, he answered my questions, and really it
was maybe the first time in talking to a complete
stranger that was curious and interested and validated that we
(24:39):
weren't crazy, that there was hope. He described this program
that offered both the clinical and the research component. You know,
I had my heart set on making sure that we
made it into the study.
Speaker 1 (24:51):
And because of Sarah's diligent advocacy, they did. Phoebe and
her family then traveled to the nearest Utian research site
in Boston. What do you remember about your trip to Boston.
Speaker 3 (25:04):
I didn't really understand much about it.
Speaker 1 (25:06):
There was a pool at the hotel. I was excited
for that, but.
Speaker 3 (25:09):
I remember it was a lot of appointments they had
to crampack all these specialists into one week. I fell
asleep at probably more than half of them. And it's
a new person examining me, looking at my ears, touching
my joints like so, that's a lot for an eight
year old. I remember, God, bless my mom. I would
get so irritated with her at appointments because I just
(25:31):
wanted to go home.
Speaker 1 (25:32):
I was so tired.
Speaker 5 (25:34):
Yeah, that was hard.
Speaker 2 (25:36):
We went to Boston Children's they did their clinical evaluation.
They took our blood as family and said, you know,
we're going to send this off and sequence her exom
to see if we can find any genetic possibilities for
what's causing all of these symptoms of hers. And then
we waited a long time.
Speaker 1 (25:56):
Months went by after their trip to Boston as the
Union continued their research. While they waited for results, Phoebe
was hit with new persistent back pain.
Speaker 2 (26:07):
We saw an orthopedic spine surgeon and they said, oh, well,
she has this thing called Bertolotti syndrome and it's extra
bone in your lower spine. And the recommendation that came
back was spinal fusion. I was like, that seems kind
of extreme, but we tried physical therapy and it didn't
(26:30):
really do anything, and so then finally she had spinal fusion.
Speaker 1 (26:34):
After this surgery, Phoebe is hit with a horrible postop infection.
She's forced to go under five more times in order
for doctors to open her up and clean out her wound.
When she finally recovers, the pain in her spine is gone,
but Sarah is even more desperate for the results from
the Udian study. Finally, after an agonizing weight the Udion
(26:56):
shares the results of their initial tests, but the results
are not immediately what Sarah has hoped for.
Speaker 2 (27:03):
So they did xome that came back nothing, but they
couldn't tell me, and so I was frustrated, What do
you mean you can't tell me.
Speaker 1 (27:10):
An exome study analyzes the protein coding parts of your DNA.
Because the results of the exome study were inconclusive, the
UDN decides to run a genome study, which examines the
entire DNA sequence. Again, the family waits while they evaluate
this more in depth sequencing. But finally, months after they
(27:31):
begin this testing, and years after Sarah first noticed something
was wrong with Phoebe's health, the team at UDN tells
Sarah that there is a mutation GDF eleven.
Speaker 2 (27:42):
It's a loss of function of GDF eleven.
Speaker 1 (27:45):
The first time you remember seeing in print an actual name,
an explanation in terms of GDF eleven. What did that
mean to you?
Speaker 2 (27:57):
For people that live undiagnosed, it's it's the dream come true.
It's like, oh, this is the name, this is the diagnosis.
It's hard to put into words, just how how thrilling
it is, you know, to finally have a name. You
knew there was something for years and years and years,
(28:17):
for over a decade, you knew even when there were
so many people, doctors, family members, friends, who doubted that
really that there was something wrong.
Speaker 3 (28:30):
I was thirteen at the time. Honestly, I don't think
I understood the gravity of it. I wouldn't be where
I am without the Union and the GDF eleven diagnosis.
Speaker 1 (28:40):
But GDF eleven was a newly identified gene, which means
that there was little understanding of how to proceed.
Speaker 2 (28:48):
Honestly, the feeling was what next. This is a newly
identified gene, it's a newly identified disease. More or less
no one knew anything about its treatments for it, and
so it's this new journey now of what do you
do with it? How do you understand these changes, and
how do you improve the quality of life.
Speaker 1 (29:13):
This was the next step in the Union led research journey.
Enter doctor Hugo Bellin at the Model Organism Screening Center
at Baylor College of Medicine.
Speaker 6 (29:23):
My name is Hugo Bellin, and I'm a doctor in
veterinary medicine and a PhD in genetics.
Speaker 1 (29:31):
Doctor Bellin runs the Belen Lab at Baylor and can
be credited with discovering over sixty novel diseases within the
genetic research field. Doctor Bellin has been admirably dubbed the
Lord of the Flies.
Speaker 6 (29:45):
I started working with fruit flies because fruit flies were
a superb genetics system probably the best and still the
best system in the sense that you can manipulate flies
genetically very elegantly. And that drew me to the field,
and I've stayed in the field forever.
Speaker 1 (30:06):
And how is your work connected to the undiagnosed diseases network?
Speaker 6 (30:12):
It turns out that about eighty percent of the rare
disease patients have genetic lesions. The problem is very often
that they find potential genes, but they've never been associated
with a human disease. They don't know if the gene
could be responsible because the gene is not recorded as
(30:33):
causing a human disease. So how do you solve that question?
In this case for GDF eleven, there are six patients
and we tested these six different variants in fruit flies.
Speaker 1 (30:47):
What were the GDF eleven research findings.
Speaker 6 (30:51):
The GDF eleven gene is expressed mostly in muscles as
well as in specific cells in the brain, clear cells,
as well as in many other organs. And what it
is is kind of like a hormone. It's a protein
that's made by cells that's secrete it and it's processed
(31:13):
and secreted in the blood and can circulate in fluids,
not necessarily just the blur.
Speaker 1 (31:20):
And how does that manifest in the body.
Speaker 6 (31:23):
For GDF eleven, morphological deformities are one of the key
features in patients. They have bone deformities, and they have
phase problems, and their face is not properly developed sometimes
at extra rip. Those are morphological changes in structure. We
know that the gene can also cause problems with adherence
(31:43):
tissue adherents in the bone and apparently in the gut.
And so because it's such a broad pathway, you know,
you can secrete this protein from many sources and it
can bind to lig in to the receptors many different
cells and control the activity and the function of these cells.
Speaker 1 (32:08):
The MOSC study, including doctor Bellin's research, comes out in
twenty twenty one, and Sarah pours over the research findings
desperately trying to understand if there is any way she
can do something with them to help find Phoebe some relief.
She contacts Udienne and requests that they organize a meeting
with doctor Bellin. Do you have any memory of that
(32:31):
meeting or your first impressions of Sarah.
Speaker 6 (32:33):
Yeah, Sarah has been incredibly active and in a way proactive.
She's been really an advocate for the Undiagnosed Diseases Network
because of her experience trying to kind of figure out
how she can help her daughter.
Speaker 1 (32:49):
Though there was no treatment established for Phoebe's condition at
this time, Sarah was not willing to accept that as
the final ruling. With the MOSC study in d hand,
she charged forward.
Speaker 2 (33:02):
So I listened to a speaker. His name is Matt
Might out of University of Alabama Precision Medicine, and he
talked about how understanding gene changes can help medicine understand
pathways in people's bodies that might be causing issues. So
(33:23):
he talked about a specific example of a kid with epilepsy,
and they understood her gene change and came to some
ideas for treatments that were not FDA proof for epilepsy,
but that they thought might kind of aid that genetic
change in that pathway. So I approached him and his
staff and told him about Phoebe's gene change at GDF eleven,
(33:47):
and they took a look at it and they said,
you know, we think that this particular gene influences an
inflammatory pathway and that because of her loss of function,
that she may have more inflamma in her body than
what she should. So we think this drug called humor,
which dampens inflammation, might help with these adhesions.
Speaker 1 (34:12):
A drug that already exists commonly used to target overactive
inflammation and patients who suffer from rheumatoid arthritis, may work
to address some of the symptoms related to Phoebe's rare
and newly identified condition.
Speaker 6 (34:26):
And by networking and trying to connect with other teams
and by being part of a Terrapautics matching committee, she's
kind of discovered that there is a drug that helps
foe behind. That is this drug that kind of is
involved in the immune system, and she was true connections.
She's the one who discovered these true connections.
Speaker 1 (34:49):
So how has Phoebe's life changed since she made that connection.
Speaker 2 (34:54):
She has not had one surgery for her adhesions, so
in four years, over four years, that's incredible, It is incredible.
Speaker 1 (35:03):
But you also have discovered a treatment because you were
so desperate to find relief for your daughter, and doctor
Mom figured that out.
Speaker 2 (35:15):
Doctor Mom pushed for at least trying something. I think
it's really improved her quality of life. This is her
fourth year of high school since she's been in high school.
She hasn't really been in the hospital. She just wants
to be normal and look normal and be a part
of the crowd with the kids, and so it's allowed
(35:35):
her to do that.
Speaker 3 (35:37):
My mom is probably the most impressive woman I've ever met.
And I'm not just saying that because she's my mom,
Like genuinely, if she wants something, especially for her kids,
she'll get it. I am so lucky to have a
mom literally rides it down for me.
Speaker 5 (35:51):
She will do anything for me.
Speaker 1 (35:53):
Because of Sarah's tireless advocacy, Phoebe has a bright future
ahead of her while she prepares to have off to college. Sarah,
motivated by her own journey, continues to fight for others
living with undiagnosed diseases. So tell me a little bit
about your work that you do with UDN.
Speaker 2 (36:13):
Now, I became a part of this peer patient engagement
and empowerment resource, our group, this patient group became very
involved in the sustainability and interested in the sustainability of
the UDN.
Speaker 5 (36:29):
As a resource.
Speaker 2 (36:31):
So our group, I won't say single handedly, but we
had a large voice in a couple of different things.
One is connecting with legislators across the country to educate
them about the UDN and the importance of the UDN,
and also in establishing a nonprofit called the Undiagnosed Diseases
(36:52):
Network Foundation that is a foundation that was created by
patients for patients to support patients and families and also
support the quest of finding answers for all undiagnosed patients.
Speaker 3 (37:11):
I hear her on phone calls with patients and like
it's not a job to her, she really cares about
these people. She cares about the stories. She wants them
to feel seen because she knows what it feels like
to not be seen. And it's important because so many
people are undiagnosed. But everyone, kids especially deserve to have
(37:31):
the chance out a good quality of life. And the
UDN and then UTI and F offers people a chance
I think at life and to see themselves thrive.
Speaker 1 (37:41):
A gift that Phoebe herself does not take for granted.
What are you most excited for and hopeful about?
Speaker 3 (37:51):
Truly becoming the person I needed when I was a
kid and I had so many people. I think being
a social worker is kind of my way of giving
back to people who believed to me. Why I couldn't
believe in myself, you know, I think that's I'm excited
for that.
Speaker 2 (38:05):
In the United States, there are thirty million Americans with
a rare disease, and it takes on average seven years
to get to a diagnosis, and the cost to individuals,
to families, to society is more than it needs to be.
And resources like the UDON can shorten that time to
(38:30):
a diagnosis that allows people to live their best lives.
And that's what we all want. Not only do we
want that as mothers and fathers and neighbors and friends, but.
Speaker 1 (38:41):
We want that as a society.
Speaker 2 (38:43):
We want everyone in society to be able to attend school,
to be able to attend work, and feel and be productive.
And that's why a resource like the UDON is essential.
Speaker 1 (38:56):
What is the message you want people to take away
from your story.
Speaker 3 (39:02):
I've always told myself my thoughts are powerful. I think
it's important in the chronic illness world and in just
like regular life, that you determine the outcome. If you
get up every day, as hard as it is, and
continue the fight, surround yourself with people who love you
and that you love, there is hope for a better life.
(39:27):
My name is Phoebe Marshall, and it took ten years
of searching for answers until I got a diagnosis of
a loss of function in GDF eleven.
Speaker 1 (39:36):
The Undiagnosed Diseases Network Foundation can be found at UDNF
dot org. As we wrap up another season of Symptomatic,
we want to say thank you to all of our
dedicated listeners. This season brought us stories that remind us
of the power of resilience and the impact of advocacy
and the rare disease community. We heard from a father
(39:58):
who devoted his life to find out being a cure
for his daughter's condition, from three generations of one family
who finally found relief after decades of searching, and from
so many others who have transformed their pain into purpose.
We can't wait to share more with you next season.
As always, we would love to hear from you. Send
us your thoughts on this episode or share a medical
(40:20):
mystery of your own at Symptomatic at iHeartMedia dot com,
and please rate and review Symptomatic wherever you get your podcasts.
We'll see you next time, and until then, be well.
Symptomatic a medical mystery podcast, is a production of iHeartMedia's
Ruby Studio. Our show is hosted by me Lauren Bright Pacheco.
(40:44):
Our executive producers are James Foster, Matt Ramano, and myself.
Our supervising producers are Ryan Ovadia, Haley Aliah Ericson, and
Daniel Ainsworth. This episode was written by Haley Aliah eric
Sen and edited by Samuel Richardson.
Ruby.
Speaker 2 (00:06):
She was not in her seatbelt, literally like contorting, and
she just clearly you could not get comfortable. The pain
was so severe, and I remember her thanking me for
taking care of her, as if she thought she was
gonna die.
Speaker 3 (00:20):
You know, at that age specifically, you see doctors as
like literally your heroes. They're supposed to know everything, and
so when people were like, oh, I don't know, that
was like, Oh, what do you mean you don't know?
Speaker 4 (00:32):
I am ashamed that I did contribute to some of
that skepticism when I first met them.
Speaker 5 (00:38):
I didn't fully understand at that point in my.
Speaker 4 (00:41):
Career how complex a brain and body can be.
Speaker 3 (00:45):
I promise you, like on everything I love, this is real.
Speaker 1 (00:49):
How terrifying would it be to fight an unknown enemy,
one you didn't recognize and didn't see coming. What if
that enemy was coming from within a disease that even
doctors couldn't identify. Nearly half of Americans suffer from some
chronic illness, and many struggle for an accurate diagnosis. These
(01:10):
are their stories. I'm Lauren Bray Pacheco, and this is symptomatic.
Sarah Marshall is without a doubt on the list for
Mother of the year. Having come from a background in
social work, she has taught her children the value of
community and the importance of advocacy. She's smart, intuitive, and
(01:34):
fierce in her defense of what's right. She is a
mother to four daughters that span eight years.
Speaker 2 (01:41):
My girls are incredibly close. Growing up, they didn't fight
all that much, but when they did, I would basically
tell them that person is your sister and she will
be your sister the rest of your life, and you
can't treat her like that. I only remember saying that
maybe once or twice, but they still talk about that message.
It's really a special bond that they all have.
Speaker 1 (02:02):
The youngest of Sarah's daughters is Phoebe.
Speaker 3 (02:05):
My name is Phoebe Marshall and I'm seventeen years old.
Speaker 1 (02:10):
How do you spend your time when you're not in school?
Speaker 3 (02:12):
I work at an after school childcare program that takes
up a lot of my time.
Speaker 1 (02:16):
I really like working.
Speaker 3 (02:17):
I'm a pretty average Shange girl. I hang up with
my friends, go on food trips, homework, all the regular things.
Speaker 1 (02:25):
And I'm sure that being the baby of the bunch,
Phoebe grew up with four mothers in the house indeed
very much Influenced by the inspirational work that her mother does,
Phoebe has already made the decision to follow in her
footsteps professionally.
Speaker 3 (02:41):
I am going to study social work. I want to
first be in the child welfare system with CPS, and
then once I get married and have kids and need
a more slow moving job, I'm going to be a
school social worker.
Speaker 1 (02:55):
From an early age, Sarah noticed that Phoebe seemed to
be getting sick, more freequent than the other girls had.
This wasn't your first time in the rodeo. You had
three children already. Was there a moment that you remember
thinking something here is different.
Speaker 2 (03:11):
I remember the first time that Phoebe got sick. She
was six months old and she had pneumonia. Have photos
because it was Christmas, and I remember my family members saying.
Speaker 5 (03:23):
She looks really sick, Sarah.
Speaker 2 (03:25):
As it turned out, it was kind of the first
in a series of her getting sick or having there
be an issue, getting better and thinking, Okay, that was
just a fluke, that's not going to happen again.
Speaker 1 (03:38):
As Phoebe grew, signs that something was wrong continued to
pop up.
Speaker 2 (03:43):
The Next time she was really sick, she was about
two and a half and she just was not getting better.
I'd brought her in several times. They gave her an
antibatic and maybe she was a little better, but not great.
And then they did a steroid run and that still
didn't get things better, and so I ended up bringing
her into the er because she was having trouble breathing
(04:05):
one night and they admitted her, which I was I
remember being surprised about. They wanted to do a CT
of her sinuses and I just thought that's ridiculous. She
didn't really have a runny nose. It seemed more like
a cough that was bothering her. And as it turned out,
(04:26):
the doctor the eant that read the report from the radiologist,
he said, this is the worst sinus infection he's ever
seen in a two year old. She was put on
an antibiotic that I later learned two year olds are
not put on, but she was on it for eight weeks.
Speaker 1 (04:42):
Sarah brought Phoebe home, hoping this antibiotic would fix things.
But after eight weeks on potent antibiotics, new symptoms manifest.
Phoebe begins to show signs of gas, true intestinal issues
so severe that Sarah rushes her back to the hospital.
Speaker 5 (05:00):
They ended up admitting her.
Speaker 2 (05:01):
And what I realized in that hospitalization is that they
didn't actually believe me. They were basically testing to see
if I was lying, if I was making it up,
if I was exaggerating.
Speaker 1 (05:14):
What did they think that it was Munchausen by proxy.
Munchausen by proxy is a mental health condition in which
a caregiver fabricates or induces illness in their dependent to
gain attention or sympathy. The condition can also be known
as factitious disorder imposed on another or FDIA. They never
(05:36):
said that.
Speaker 2 (05:37):
I assume that's what they thought, because this doctor I
remember him coming in and him just being he was
just very doubtful of what I was saying. And then
they confirmed, like, oh, yeah, she does have some of
the gastritis from the antabatic and so they discontinued it.
And I said, well, what are we going to do?
What's the other option? And they didn't actually put her
(05:59):
on anything more. And I said, but we were just
here at the same hospital and they said, this is
the worst infection they've ever seen, and we're just she's
going off of it. They basically said, yes, they did
not send her home with any antabatic.
Speaker 1 (06:13):
So how were the doctors explaining these early health struggles.
Speaker 5 (06:20):
They really weren't.
Speaker 2 (06:21):
We went and saw one of the doctors in this
practice that I had seen, you know, years prior, and
she was an immunologist and she did some pretty extensive
immune system testing and she basically came to the conclusion
that Phoebe's immune system was dysregulated.
Speaker 5 (06:39):
It was kind of.
Speaker 2 (06:40):
Hyperreactive, and she had some low immuno globulins, but nothing
that fitted diagnosis that she could have regular treatment for.
And so they put her on kind of a prophylactic
antabatic that kept her from getting infections. She didn't really
have a real specific diagnosis other than frequent infections, and
(07:03):
she really, for the most part, infection wise, was pretty good.
Speaker 1 (07:08):
By around four years old, Phoebe began to recognize herself
that something was definitely not quite right. When is the
first time that you remember your earliest memories of dealing
with health issues.
Speaker 3 (07:23):
My first memory of pain was my ankle pain. That
was horrible. No one could tell me why that was happening,
and it disrupted my sleep a lot.
Speaker 1 (07:35):
That was really bad.
Speaker 2 (07:36):
The ankle pain actually started around the time of her
sinus infection, and that ankle pain was persistent really for years.
Speaker 1 (07:43):
What kind of pain are we talking about? Was it
just a soreness, an ache.
Speaker 3 (07:49):
Just kind of like a dull pain, That's the best
way I can explain it. And it got worse with
like something over it. I could walk perfectly fine. It
wasn't a problem with the bone.
Speaker 1 (08:00):
How did that impact you in terms of school and
sports and things like that.
Speaker 3 (08:06):
Honestly, like I just kind of powered through as much
as I could. No one could do anything. No medication helped.
I mean, my pain talent was pretty high by the
end of it, so it only really really disrupted my sleep.
Speaker 1 (08:19):
I remember that, barely five years old, Phoebe was already
learning to live with chronic pain and discomfort. Next, her
vision starts to fail.
Speaker 3 (08:28):
That was hard as a kindergartener with like an eye
patch walking around.
Speaker 2 (08:32):
She was complaining of black spots in her field of vision,
and I myself, like, sometimes see black spots if you
stand up too fast, or you know, blood pressure kind
of changes. But then the doctor looked in her eyes.
He goes, you know, I think I see something, and
I'm going to send you to a retinal specialist tomorrow,
and then she was diagnosed with retinal vasculitis, where fluid
(08:54):
was leaking out of the vessels in the back of
her eye. They didn't know why it was happening.
Speaker 3 (08:59):
You know, at that age specifically, you see doctors as
like literally your heroes. They're supposed to know everything. They
are the smartest of the smartest. So when people were like, oh,
I don't know, I was like, what do you mean
you don't know? I became a parent very young that
I was not a cookie cutter.
Speaker 1 (09:17):
Case in and out of doctor's offices, Juggling a growing
list of strange and seemingly disconnected symptoms, Sarah was increasingly
on edge, waiting for the next shoe to drop. She
remembers the day it hit the floor vividly.
Speaker 2 (09:34):
It was a Saturday, it was in the fall, and
it was a beautiful day. She had been playing outside
with the neighbor kids. And I remember thinking that day
that this was the first normal day she had had
in a while. She really seemed to feel good, and
I just remember relishing like what a good day it was.
And then that night she said that her tummy hurt,
(09:56):
and you know, six year old tummy, all the kind
of normal mom things that you'd say, have you gone
to the bathroom? Do you want me to rub your tummy?
What a heating pad?
Speaker 1 (10:06):
Help?
Speaker 2 (10:07):
And very quickly her pain really ramped up. Within an hour,
she was laying on my floor just screaming and crying.
And in my mind, I'm like, we just got back
from the hospital. We can't go back. But because I
couldn't think of anything else to do, we went to
the hospital. I drove her in the car and she
(10:32):
was not in her seatbelt, literally like contorting and writhing
and she just clearly you could not get comfortable.
Speaker 3 (10:41):
I was in so much pain, and I remember saying,
I feel like I'm going to die.
Speaker 2 (10:46):
She thought she was going to die. She said, thank you,
mom for taking care of me.
Speaker 3 (10:51):
And like, no six year old knows that vocap like
I work with kids, No kid knows the concept of
dying is not in there like Pisa, and it wasn't
in mind.
Speaker 1 (11:02):
I remember my mom.
Speaker 3 (11:03):
She would like, keep stopping at red lights. I'm like,
I don't know why we're stopping at red lights.
Speaker 2 (11:09):
I just tried to stay calm and I said, I'm
going as fast as I can we'll get there soon.
We walked in and she was screaming.
Speaker 3 (11:18):
I just kept screaming as a lot as I was
in the car.
Speaker 2 (11:20):
I don't even know that they asked us our name,
and we just went back and they immediately gave her
fentanyl and then they gave her delauded and then try
to figure out what was wrong.
Speaker 1 (11:31):
I know, as a mother, there is this exquisite hell
of acting like everything's okay when you're afraid that it's not.
Speaker 2 (11:42):
Oh yeah, all the time, all the time, and you know,
trying not to cry and lose it myself as my
six year old is crying and screaming, trying to reassure
her that she was going to be okay, when I
had no idea if really she was going to be okay.
Speaker 1 (12:01):
And once you get in to see doctors, they run
another set of tests. What did those tests show?
Speaker 4 (12:09):
Her?
Speaker 2 (12:09):
Liver enzymes were sky high, a normal range of somewhere
around let's say thirty or forty. Hers were in the thousands.
And they started asking me, has she had access to
tailan all? Did she overdose and tilan all?
Speaker 1 (12:25):
You know?
Speaker 2 (12:25):
And so then I'm racking my brain. Did she I
don't think she swallowed Thailand all.
Speaker 1 (12:31):
Did you get any conclusive answers that day?
Speaker 2 (12:35):
No, they did admit her because her liver enzymes were
so high and her pain was so high. She stayed
in the hospital maybe three days, and it resolved on
its own. It left nearly as quickly as it came on,
and people just kind of shrug like, we don't know
what that was.
Speaker 1 (12:52):
Phoebe and Sarah lead the hospital after what feels like
a near death experience with no clear direction or understand
of what has happened. Again, a few months past and Phoebe,
now seven years old, starts to indicate to Sarah that
her stomach was hurting.
Speaker 2 (13:11):
It was unremitting, but it wasn't so severe that she was,
you know, screaming, but she complained.
Speaker 1 (13:18):
About it daily.
Speaker 2 (13:20):
They did blood tests, they did an ultrasound CT scan,
MRI hid to scand look at the gallbladder and everything
was negative. But she really had this unremitting pain for
it was about eight weeks and finally it was recommended
to consult with a surgeon because they said, well, it
could be this atypical appendicitis where laps come back normal.
(13:45):
But once you go in there they see kind of
an inflamed appendix.
Speaker 1 (13:50):
What did they find?
Speaker 2 (13:52):
They found that her appendix look great. They still took
it out, but they found adhesions, so scar tissue that
it was actually pretty extensive on the right side of
her abdominal cavity, but in particular scar tissue that was
connecting her secum, which is I believe a part of
the large intestine to another part of the large intestine,
(14:15):
and so it was pulling and her surgeon, I remember,
he came out kind of looking perplexed. He's like, well,
this is what I saw and weced them, meaning that
they released that scar tissue, and he's like, I don't
know why they were there. He said, it looks kind
of inflammatory to me, but there's no reason that those
should be happening, and we'll just see how she feels after.
(14:38):
And she woke up and she had no more abdominal pain.
It essentially cured. It cured her pain.
Speaker 1 (14:45):
But this cure did not last for long. Six months later,
phoebe presented with the same pain again and doctors recommended
another adhesion surgery. What were you thinking when the conversation
about another operation came up?
Speaker 2 (15:01):
You know, I really hesitated do we go in again?
Is this could this be again this issue? Because there
was no test for these the scar tissue, you can't
see it on any scan. And I'm like, what if
her pain is there and there's nothing to see.
Speaker 1 (15:19):
So she goes back into surgery. What happened next?
Speaker 2 (15:24):
He came out and he said, well, they're there again,
and they're in the exact same place where they had
been six months earlier.
Speaker 3 (15:30):
That's based scar routine every seven months. I knew the
pain every time. Like once I started feeling it, I
was like Mom called the surgeon that like ruins my
life and I remember thinking like, no one will ever understand.
Speaker 1 (15:44):
We'll be right back with Symptomatic a Medical Mystery Podcast.
Now back to Symptomatic a Medical Mystery Podcast. Since she
was a baby, Phoebe Marshall has been living with an
(16:05):
expanding list of health issues. Infections that escalate to the
point of hospitalization, inflammation, joint pain, even vision loss. Her mother, Sarah,
has done the best she can while facing constant dismissal
from the medical community. Now, a recurring surgery to remove
adhesions in her abdomen, required twice a year, would become
(16:28):
Phoebe's life.
Speaker 3 (16:29):
I mean, it was hard to get surgery every seven
to eight months. I was carrying around medication in a
back at a pit line. I'd always had stuff hanging
for me. There's always a reminder.
Speaker 1 (16:41):
So what started as exploratory surgery became maintenance.
Speaker 2 (16:46):
Yeah, and maintenance for a condition that's not life threatening.
She didn't really have a real specific diagnosis, so honestly,
no one was particularly concerned about it because it doesn't
threaten her life. Really, I was the only person that
was interested in finding a way to never make them
(17:08):
happen again.
Speaker 1 (17:11):
As a mom, how do you balance prioritizing finding answers
and dealing with these symptoms as they keep calming with
out letting it take over Phoebe's identity.
Speaker 2 (17:25):
I don't think I let on to many people how
much I thought about what happens, when the next thing happens,
what will the next thing be? And so I did
a lot of nighttime scrolling of the Internet looking for symptoms,
matching them to diagnoses, looking for people, for researchers, for
(17:46):
doctors across the United States that might have answers that
experts where we live didn't have. But I also think
getting her involved in therapy early on was helpful.
Speaker 4 (17:59):
My name is doctor Jade Rafferty. I am a pediatric psychologist.
The pediatric part means that I specialize in kids with
medical conditions.
Speaker 1 (18:08):
Doctor Jade Rafferty is Phoebe's psychologist. Tell me a little
bit about your first memory of meeting Phoebe.
Speaker 5 (18:16):
So I met her when I was working in pain clinic.
Speaker 4 (18:18):
She was eight, so I've known her for a long time,
but I don't remember her as much as I remember Sarah.
Speaker 5 (18:26):
She kept sending.
Speaker 4 (18:27):
Messages and she kept attaching these articles that I got.
Speaker 5 (18:31):
To be honest, I had no idea what they meant.
Speaker 4 (18:35):
They were such complex scientific articles that I was like, yeah,
I don't.
Speaker 5 (18:40):
Know what this means.
Speaker 4 (18:43):
And unfortunately, and I think it is important to share this,
Like I am ashamed that I did contribute to some
of that skepticism or had that skepticism when I first
met them, you know, like what is really going on here?
I didn't fully understand at that point in my career
how complex a brain and body can be. And Phoebe
(19:06):
at that time was a closed book. You could not
get her to say a whole lot of anything.
Speaker 5 (19:13):
So I did.
Speaker 4 (19:14):
Spend a lot of time sitting there trying to ask
her questions.
Speaker 1 (19:18):
Sarah remembers this too.
Speaker 2 (19:21):
She kind of saw Jade as this nosy person that
was asking her all these personal questions, and I'm like, well,
you know, you can tell her whatever you want to
tell her, like that's what she's there for. And there
was this light that went I'm like, oh, I didn't
know I could like talk to her about things.
Speaker 1 (19:40):
What has been the most difficult part for you of
growing up with these ever changing, evolving symptoms. I think
a lot of people.
Speaker 3 (19:52):
Already struggle with trusting other people, but my medical stuff
goes outside of the doctor. I have a really hard
time trusting other people, like my friends. I don't open
up to my friends a lot.
Speaker 1 (20:06):
They know I have.
Speaker 3 (20:06):
Medical stuff, they know I struggle, but I've been taught
over and over that no one wants to hear it.
I think also, my story is so complex, it's really hard.
Even to this day, it's really hard to explain to
my friends. I remember one time I was in the hospital.
It was just after one of my surgeries. I get
(20:28):
really weak after my surgeries, and I remember my neuralogist
ended up coming in to do I'm gonna get it
wrong and EMG something where like you poke the muscles
and you see how tired they get. But he was like,
let's just do one now after surgery to see and
the EMG.
Speaker 2 (20:46):
Came back normal.
Speaker 3 (20:47):
There was nothing really shown there, and I don't think
he was like, oh, that means they're faking it, but
like the look of confusion on his face, like I
wanted so badly just to tell them, like I promise
you on everything I love, this is real.
Speaker 1 (21:04):
I know. Phoebe spoken about how she felt dismissed.
Speaker 2 (21:08):
Mm hmm, we all did we all?
Speaker 1 (21:11):
Did you know?
Speaker 2 (21:13):
It was very, very difficult, And I think I saw
the doubt from doctors and like what I intuited was
that they felt like this family needs help and they
need some mental health support.
Speaker 1 (21:32):
Though Phoebe's physical symptoms went far beyond the boundaries of
mental health and should not have been minimized, doctor Jade
recognizes the emotional impact of what their family was going through.
Speaker 5 (21:43):
Well, it impacts the entire family system.
Speaker 4 (21:46):
We're not taught how to be parents, let alone parents
of children with chronic illness.
Speaker 5 (21:51):
How do we help kids.
Speaker 4 (21:52):
Be independent even if we're having to give them IVS right,
or how do we help kids go back to school
even if they're a new system is compromised. For me,
I see it all as health and I wish and
dream that all kids could get mental health care. But
then when you add on all of the levels of
(22:13):
chronic illness, it impacts and changes how children and their
families develop, and that I think is really a key
component of some of the work that I do.
Speaker 1 (22:26):
Now ten years old, Phoebe has undergone an adhesion surgery
every six to eight months for the last four years.
These surgeries are invasive, painful, and leave her with extended
post operative weakness, unable to roll over or even hold
up her head. Phoebe missed months of school every year
as a result. Sarah was unable to accept this as
(22:48):
her daughter's continued fate.
Speaker 2 (22:50):
I was probably the only person whose quest it was
to find a way to not do these surgeries anymore,
because it did impact her quality of life. Who wants
to go into surgery once or twice a year and
then be in the hospital for a week. I didn't
(23:10):
want that for her for so many reasons. She was
still having symptoms that weren't in just one organ system.
They were across multiple organ systems, and so many of
her individual diagnoses were rare in and of themselves, And
it's like, how can one person have so many things
(23:31):
that are otherwise rare in one short life experience? I
was desperate for answers.
Speaker 1 (23:39):
In twenty seventeen, after years of pounding the pavement in
search of answers to their many questions, Sarah came across
the Undiagnosed Diseases Network.
Speaker 2 (23:50):
I found another parent who lived in Wisconsin at the time,
and she and her children had just been seen at
the UDN. And when she told me about the ud
AND I had never heard of it before, and I thought,
we have to go. This is where we'll find answers.
Speaker 1 (24:08):
Can you tell me about your first experience with them?
Speaker 2 (24:12):
So I called the number on their website and a
man named Paul answered the phone, and he was wonderful.
I spoke to him for about an hour. He listened
to my story, he answered my questions, and really it
was maybe the first time in talking to a complete
stranger that was curious and interested and validated that we
(24:39):
weren't crazy, that there was hope. He described this program
that offered both the clinical and the research component. You know,
I had my heart set on making sure that we
made it into the study.
Speaker 1 (24:51):
And because of Sarah's diligent advocacy, they did. Phoebe and
her family then traveled to the nearest Utian research site
in Boston. What do you remember about your trip to Boston.
Speaker 3 (25:04):
I didn't really understand much about it.
Speaker 1 (25:06):
There was a pool at the hotel. I was excited
for that, but.
Speaker 3 (25:09):
I remember it was a lot of appointments they had
to crampack all these specialists into one week. I fell
asleep at probably more than half of them. And it's
a new person examining me, looking at my ears, touching
my joints like so, that's a lot for an eight
year old. I remember, God, bless my mom. I would
get so irritated with her at appointments because I just
(25:31):
wanted to go home.
Speaker 1 (25:32):
I was so tired.
Speaker 5 (25:34):
Yeah, that was hard.
Speaker 2 (25:36):
We went to Boston Children's they did their clinical evaluation.
They took our blood as family and said, you know,
we're going to send this off and sequence her exom
to see if we can find any genetic possibilities for
what's causing all of these symptoms of hers. And then
we waited a long time.
Speaker 1 (25:56):
Months went by after their trip to Boston as the
Union continued their research. While they waited for results, Phoebe
was hit with new persistent back pain.
Speaker 2 (26:07):
We saw an orthopedic spine surgeon and they said, oh, well,
she has this thing called Bertolotti syndrome and it's extra
bone in your lower spine. And the recommendation that came
back was spinal fusion. I was like, that seems kind
of extreme, but we tried physical therapy and it didn't
(26:30):
really do anything, and so then finally she had spinal fusion.
Speaker 1 (26:34):
After this surgery, Phoebe is hit with a horrible postop infection.
She's forced to go under five more times in order
for doctors to open her up and clean out her wound.
When she finally recovers, the pain in her spine is gone,
but Sarah is even more desperate for the results from
the Udian study. Finally, after an agonizing weight the Udion
(26:56):
shares the results of their initial tests, but the results
are not immediately what Sarah has hoped for.
Speaker 2 (27:03):
So they did xome that came back nothing, but they
couldn't tell me, and so I was frustrated, What do
you mean you can't tell me.
Speaker 1 (27:10):
An exome study analyzes the protein coding parts of your DNA.
Because the results of the exome study were inconclusive, the
UDN decides to run a genome study, which examines the
entire DNA sequence. Again, the family waits while they evaluate
this more in depth sequencing. But finally, months after they
(27:31):
begin this testing, and years after Sarah first noticed something
was wrong with Phoebe's health, the team at UDN tells
Sarah that there is a mutation GDF eleven.
Speaker 2 (27:42):
It's a loss of function of GDF eleven.
Speaker 1 (27:45):
The first time you remember seeing in print an actual name,
an explanation in terms of GDF eleven. What did that
mean to you?
Speaker 2 (27:57):
For people that live undiagnosed, it's it's the dream come true.
It's like, oh, this is the name, this is the diagnosis.
It's hard to put into words, just how how thrilling
it is, you know, to finally have a name. You
knew there was something for years and years and years,
(28:17):
for over a decade, you knew even when there were
so many people, doctors, family members, friends, who doubted that
really that there was something wrong.
Speaker 3 (28:30):
I was thirteen at the time. Honestly, I don't think
I understood the gravity of it. I wouldn't be where
I am without the Union and the GDF eleven diagnosis.
Speaker 1 (28:40):
But GDF eleven was a newly identified gene, which means
that there was little understanding of how to proceed.
Speaker 2 (28:48):
Honestly, the feeling was what next. This is a newly
identified gene, it's a newly identified disease. More or less
no one knew anything about its treatments for it, and
so it's this new journey now of what do you
do with it? How do you understand these changes, and
how do you improve the quality of life.
Speaker 1 (29:13):
This was the next step in the Union led research journey.
Enter doctor Hugo Bellin at the Model Organism Screening Center
at Baylor College of Medicine.
Speaker 6 (29:23):
My name is Hugo Bellin, and I'm a doctor in
veterinary medicine and a PhD in genetics.
Speaker 1 (29:31):
Doctor Bellin runs the Belen Lab at Baylor and can
be credited with discovering over sixty novel diseases within the
genetic research field. Doctor Bellin has been admirably dubbed the
Lord of the Flies.
Speaker 6 (29:45):
I started working with fruit flies because fruit flies were
a superb genetics system probably the best and still the
best system in the sense that you can manipulate flies
genetically very elegantly. And that drew me to the field,
and I've stayed in the field forever.
Speaker 1 (30:06):
And how is your work connected to the undiagnosed diseases network?
Speaker 6 (30:12):
It turns out that about eighty percent of the rare
disease patients have genetic lesions. The problem is very often
that they find potential genes, but they've never been associated
with a human disease. They don't know if the gene
could be responsible because the gene is not recorded as
(30:33):
causing a human disease. So how do you solve that question?
In this case for GDF eleven, there are six patients
and we tested these six different variants in fruit flies.
Speaker 1 (30:47):
What were the GDF eleven research findings.
Speaker 6 (30:51):
The GDF eleven gene is expressed mostly in muscles as
well as in specific cells in the brain, clear cells,
as well as in many other organs. And what it
is is kind of like a hormone. It's a protein
that's made by cells that's secrete it and it's processed
(31:13):
and secreted in the blood and can circulate in fluids,
not necessarily just the blur.
Speaker 1 (31:20):
And how does that manifest in the body.
Speaker 6 (31:23):
For GDF eleven, morphological deformities are one of the key
features in patients. They have bone deformities, and they have
phase problems, and their face is not properly developed sometimes
at extra rip. Those are morphological changes in structure. We
know that the gene can also cause problems with adherence
(31:43):
tissue adherents in the bone and apparently in the gut.
And so because it's such a broad pathway, you know,
you can secrete this protein from many sources and it
can bind to lig in to the receptors many different
cells and control the activity and the function of these cells.
Speaker 1 (32:08):
The MOSC study, including doctor Bellin's research, comes out in
twenty twenty one, and Sarah pours over the research findings
desperately trying to understand if there is any way she
can do something with them to help find Phoebe some relief.
She contacts Udienne and requests that they organize a meeting
with doctor Bellin. Do you have any memory of that
(32:31):
meeting or your first impressions of Sarah.
Speaker 6 (32:33):
Yeah, Sarah has been incredibly active and in a way proactive.
She's been really an advocate for the Undiagnosed Diseases Network
because of her experience trying to kind of figure out
how she can help her daughter.
Speaker 1 (32:49):
Though there was no treatment established for Phoebe's condition at
this time, Sarah was not willing to accept that as
the final ruling. With the MOSC study in d hand,
she charged forward.
Speaker 2 (33:02):
So I listened to a speaker. His name is Matt
Might out of University of Alabama Precision Medicine, and he
talked about how understanding gene changes can help medicine understand
pathways in people's bodies that might be causing issues. So
(33:23):
he talked about a specific example of a kid with epilepsy,
and they understood her gene change and came to some
ideas for treatments that were not FDA proof for epilepsy,
but that they thought might kind of aid that genetic
change in that pathway. So I approached him and his
staff and told him about Phoebe's gene change at GDF eleven,
(33:47):
and they took a look at it and they said,
you know, we think that this particular gene influences an
inflammatory pathway and that because of her loss of function,
that she may have more inflamma in her body than
what she should. So we think this drug called humor,
which dampens inflammation, might help with these adhesions.
Speaker 1 (34:12):
A drug that already exists commonly used to target overactive
inflammation and patients who suffer from rheumatoid arthritis, may work
to address some of the symptoms related to Phoebe's rare
and newly identified condition.
Speaker 6 (34:26):
And by networking and trying to connect with other teams
and by being part of a Terrapautics matching committee, she's
kind of discovered that there is a drug that helps
foe behind. That is this drug that kind of is
involved in the immune system, and she was true connections.
She's the one who discovered these true connections.
Speaker 1 (34:49):
So how has Phoebe's life changed since she made that connection.
Speaker 2 (34:54):
She has not had one surgery for her adhesions, so
in four years, over four years, that's incredible, It is incredible.
Speaker 1 (35:03):
But you also have discovered a treatment because you were
so desperate to find relief for your daughter, and doctor
Mom figured that out.
Speaker 2 (35:15):
Doctor Mom pushed for at least trying something. I think
it's really improved her quality of life. This is her
fourth year of high school since she's been in high school.
She hasn't really been in the hospital. She just wants
to be normal and look normal and be a part
of the crowd with the kids, and so it's allowed
(35:35):
her to do that.
Speaker 3 (35:37):
My mom is probably the most impressive woman I've ever met.
And I'm not just saying that because she's my mom,
Like genuinely, if she wants something, especially for her kids,
she'll get it. I am so lucky to have a
mom literally rides it down for me.
Speaker 5 (35:51):
She will do anything for me.
Speaker 1 (35:53):
Because of Sarah's tireless advocacy, Phoebe has a bright future
ahead of her while she prepares to have off to college. Sarah,
motivated by her own journey, continues to fight for others
living with undiagnosed diseases. So tell me a little bit
about your work that you do with UDN.
Speaker 2 (36:13):
Now, I became a part of this peer patient engagement
and empowerment resource, our group, this patient group became very
involved in the sustainability and interested in the sustainability of
the UDN.
Speaker 5 (36:29):
As a resource.
Speaker 2 (36:31):
So our group, I won't say single handedly, but we
had a large voice in a couple of different things.
One is connecting with legislators across the country to educate
them about the UDN and the importance of the UDN,
and also in establishing a nonprofit called the Undiagnosed Diseases
(36:52):
Network Foundation that is a foundation that was created by
patients for patients to support patients and families and also
support the quest of finding answers for all undiagnosed patients.
Speaker 3 (37:11):
I hear her on phone calls with patients and like
it's not a job to her, she really cares about
these people. She cares about the stories. She wants them
to feel seen because she knows what it feels like
to not be seen. And it's important because so many
people are undiagnosed. But everyone, kids especially deserve to have
(37:31):
the chance out a good quality of life. And the
UDN and then UTI and F offers people a chance
I think at life and to see themselves thrive.
Speaker 1 (37:41):
A gift that Phoebe herself does not take for granted.
What are you most excited for and hopeful about?
Speaker 3 (37:51):
Truly becoming the person I needed when I was a
kid and I had so many people. I think being
a social worker is kind of my way of giving
back to people who believed to me. Why I couldn't
believe in myself, you know, I think that's I'm excited
for that.
Speaker 2 (38:05):
In the United States, there are thirty million Americans with
a rare disease, and it takes on average seven years
to get to a diagnosis, and the cost to individuals,
to families, to society is more than it needs to be.
And resources like the UDON can shorten that time to
(38:30):
a diagnosis that allows people to live their best lives.
And that's what we all want. Not only do we
want that as mothers and fathers and neighbors and friends, but.
Speaker 1 (38:41):
We want that as a society.
Speaker 2 (38:43):
We want everyone in society to be able to attend school,
to be able to attend work, and feel and be productive.
And that's why a resource like the UDON is essential.
Speaker 1 (38:56):
What is the message you want people to take away
from your story.
Speaker 3 (39:02):
I've always told myself my thoughts are powerful. I think
it's important in the chronic illness world and in just
like regular life, that you determine the outcome. If you
get up every day, as hard as it is, and
continue the fight, surround yourself with people who love you
and that you love, there is hope for a better life.
(39:27):
My name is Phoebe Marshall, and it took ten years
of searching for answers until I got a diagnosis of
a loss of function in GDF eleven.
Speaker 1 (39:36):
The Undiagnosed Diseases Network Foundation can be found at UDNF
dot org. As we wrap up another season of Symptomatic,
we want to say thank you to all of our
dedicated listeners. This season brought us stories that remind us
of the power of resilience and the impact of advocacy
and the rare disease community. We heard from a father
(39:58):
who devoted his life to find out being a cure
for his daughter's condition, from three generations of one family
who finally found relief after decades of searching, and from
so many others who have transformed their pain into purpose.
We can't wait to share more with you next season.
As always, we would love to hear from you. Send
us your thoughts on this episode or share a medical
(40:20):
mystery of your own at Symptomatic at iHeartMedia dot com,
and please rate and review Symptomatic wherever you get your podcasts.
We'll see you next time, and until then, be well.
Symptomatic a medical mystery podcast, is a production of iHeartMedia's
Ruby Studio. Our show is hosted by me Lauren Bright Pacheco.
(40:44):
Our executive producers are James Foster, Matt Ramano, and myself.
Our supervising producers are Ryan Ovadia, Haley Aliah Ericson, and
Daniel Ainsworth. This episode was written by Haley Aliah eric
Sen and edited by Samuel Richardson.
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