Diagnosis (2019–…): Season 1, Episode 1 - Detective Work - full transcript

[footsteps echoing]

-[knocking at door]
-[man] Come in.

[door opens]

-[woman] Is this the spot where it hurt?
-[man] Mm-hm.

I'm gonna listen to your heart
and then your lungs, okay?

When a patient comes to a doctor,

their lives are in your hands.

I can't see if you've had a heart attack.

Let me put it that way.
There's no scars here.

They have a problem,

and they come to the doctor
to figure out what's causing it



and figure out how to fix it.

That's what diagnosis is.

Diagnosis is the answer to the question,
"Doctor, what's wrong with me?"

I'm a physician at Yale.

I also teach residence.

[Dr. Sanders] Okay.

When I went to medical school,

I thought I understood what a doctor was.

Hold your hand up.

I thought diagnosis was like
the multiplication tables.

Four times six, it's always 24.

What I didn't know
was there is not one answer,

but a dozen answers.

And I thought, "Oh, my God,



this is not the multiplication tables,
this is Sherlock Holmes.

This is detective work."

In addition to being a physician,

for the past 15 years,

I've written a column
for the New York Times Magazine

about patients...

who have mysterious symptoms
and how they find their diagnosis.

And people do make appointments with me
because they read my column

and because they see
that I was a consultant for House.

So your arm only hurts
after you lie on top of it all night.

Yeah.

Well, have you thought about,
I don't know, not doing that?

[Dr. Sanders] One thing all these cases
that I've written about had in common

was that they've already been solved.

But I always wanted to go the next step.

Right now, there are thousands of cases
out in the world

that remain undiagnosed.

Using the internet we have the ability
to harness all the intelligence,

all the wisdom of doctors
and regular people around the planet,

to help people who don't have a diagnosis
finally be able to get some answers.

And that can save people's lives.

I don't know that it's going to work,

but if it does work,

what does that mean... for medicine?

Can we find answers to some
of medicine's most complicated problems?

[dog barking]

[woman]
Every time I walk into a doctor's office

they say, "We don't know how to treat you.
We don't know what to do with you."

It all started when I was 14.

I remember waking up
and screaming for my mom

and just saying, like, "I can't move."

Now I have excruciating pain
on a daily basis.

It begins in my legs
and it shoots up my back,

all the way up to, like,
my jaw and my cheeks.

And I think the scary part is

I'm just so used to it
that I think now this is my life.

[clicking fingers]

[man speaks indistinctly]

[Angel sobbing]

[Angel] Throughout my high school years,
I was always very athletic.

I played volleyball,
basketball, and softball,

and then in my senior year,
I played flag football.

I used to go to the gym
almost five times a week,

but once this kept getting worse
and worse and worse,

I just had to cut
one by one by one by one.

In high school, I was in the hospital
maybe once or twice a year.

Last year, I was in it four times.

Exactly every three months,
almost to the date.

-[man] Babe?
-[Angel] Yeah.

I love you.

I love you.

[Angel]
Mac and I met in high school.

He was a junior, I was a sophomore.

Long story short,
he ended up taking me to homecoming.

We're now dating three years later.
We've lived together for two.

Hey.

Hi, baby.

Having a family is all I've wanted,

but I don't think I can go down a route
of having kids right now.

My health is just deteriorating,

and as I'm getting older,
it's been getting worse.

There's days I won't be able
to get out of bed,

but Mac stays right there with me.

[Mac] Angel is

the strongest person,

the hardest-working person,

and she always has
the biggest smile on her face.

Damn, is she stubborn.

Just so you guys know,
I'm going to kill all of you.

I have so many goals
and things in life I want.

At my job now, I'm a hostess,

but I'm also in nursing school.

And hopefully, I'll be an RN,
then one day a nurse practitioner.

[Mac] No matter what,

she's never let her disorder win.

-[Mac] How bad would you say your pain is?
-It's bad.

[Mac] One to ten.

Nine.

[Mac] Still a nine?

[Angel] They don't know
how to control my pain

and to stop it affecting my vital organs.

It's basically just like
a super ache with...

someone squeezing on you at the same time,
so like your muscles can't really breathe.

I can't move, can't walk,
sometimes can't talk.

I've had a seizure,
and they think it's because of it.

When I go to the restroom,
my urine is black.

It looks like coffee grounds.

Every time I walk into
a doctor's office, they say,

"Well, yeah, you really are a mystery."

In the beginning,
it was rheumatoid arthritis,

but I tested negative.

It was lupus. Tested negative.

It was MS. Negative.

It's not autoimmune.

I know I'm a difficult case,
but I get a lot of,

"I'm sorry, I don't know," and that's it.
That's period. There's no comma.

Not knowing
is the scariest thing in the world.

I can deal with the pain,
I can still live,

but not knowing is what's holding me back.

[dog barking]

[Dr. Sanders] A colleague sent me
a GoFundMe page

from this young woman and he said,
"I think you'll find this interesting,"

and I did.

This young woman
with periodic muscle pains,

Angel, really spoke to me.

I thought, "This is a diagnosable illness.

She is definitely going to get an answer."

I'm not Angel's doctor,

but what I can do
is put Angel's story to the crowd

and see what they can come up with.

The New York Times is on board
with this experiment, and that's great

because through them

we can reach people all over the world.

Speaking of how we're going
to get readers to interact with us,

I'm designing it in a way
where there's an illustration at the top.

You're going to read a patient's case.

The video of the patient
and the medical records.

It's like evidence
that a detective is looking through.

Right. A little grainy, but hopefully,
you can get the gist of it.

So we're going to have a form
at the end of every single column

that asks the reader to share a video
on what they think the diagnosis is.

[woman]
It's amazing to imagine all these readers

could actually make a difference,

-could help someone.
-Yeah.

I hope that this...

you know, gets a lot of excitement.
This is really,

-as you know, what I wanted to do.
-I know. All your life.

[Dr. Sanders chuckles]

Getting the right diagnosis

is the most important thing
you can do for a patient.

You'll never get the treatment right

if you don't have the right diagnosis.

One of the tools that doctors use

are the other doctors in the room.

And whether you're going
to get a diagnosis or not

really depends on who's in that room

and who might see something
that they recognize and understand,

and then identify it.

See?

So what we're doing
is just making the room that much bigger.

More people, more experience.

The more brains that might have

been there, seen that, done that,

then the greater your likelihood
of making the right diagnosis.

[man] When she was a little girl,

I took my daughter to the office

of the place I worked for,

and she just killed them.

She killed them. Especially with that hat,
you know what I mean? Come on.

is that the beautifulest baby
you've ever seen? Look at that.

That's when she was normal,

okay?

And then, what was it,
seventh grade all this crap started?

When you've gotta go get your daughter
out of school

and you've gotta carry her,

put her in the car
and take her to the hospital, it really...

it really sucks.

Uh, but, you know,

they still can't--

They can't-- [clears throat]

They still can't say what's wrong with her
and it's not fair, you know.

You get to the point where you think that,
you know, well maybe the doctors are like,

"Well, I don't know what it is,
so I really don't care,"

and that's aggravating,
you know what I mean? That's my baby girl.

And I'm like after 10, 11 years,
whatever it's been, you know,

"Come on, give us something."

They diagnosed her with allergies.

They gave her three medications...

then she didn't get any better.

I took her to the emergency room.

They stopped two of the medications
and kept one going.

But that's what I see,
coming from the local--

Being misdiagnosed to begin with.

If you ask me, it didn't come

-from no misdiagnosis.
-I don't know. We don't know.

-It came from her.
-[scoffs]

That's what I think.
I think it's hereditary.

But like with Angel, it's her whole body.
With me it's just my legs, so...

Like, I don't know if it's hereditary
or not. I really don't know.

[Angel] Physical activity,

any type of physical activity
will trigger a really bad flare up.

Different things
like working out, hiking,

and sometimes it can cause a lot of pain.

But I don't like being limited

'cause I'm an athletic person.

I am young,
so I wanna live how I wanna live,

not let this run my life.

Can you believe people actually enjoy
doing this? As in like,

they don't do this to inflict more pain
on their own body.

[panting]

[panting heavily]

[Mac] What's going on?

[Angel continues panting]

[Angel] Wait.

You good, chica?

[Angel] Yeah.

What happened? You all right?

-You're not?
-No.

-Want some agua?
-No.

[Angel] Oh, my God,
it's like shooting, sharp pain.

Guys, guys, stop, stop.

Stop.

Let me pick you up.

I can't bend my legs.

Oh, my God, it hurts so bad.

Let's go.

Wait, wait, wait, wait, wait.

[Angel]
Just calm down for two seconds, okay?

[Angel groaning]

Just go in front of me.

[woman] You got it?

[Angel, sobbing]
Wait, wait, wait, wait.

-[Mac] We've gotta move, baby.
-[Angel] No, wait.

-[Mac] I got you.
-No, it hurts. It hurts!

[Mac] I've got you. Come on.

[Angel] Ow! Ow!

[Angel]
I'm not getting out of the car.

Yep.

Ow.

Ow.

[Angel panting]

[nurse]
Can you take someone back for me?

I hate this.

[Mac] It's not fair.

[sniffs]

It's just not fair.

I would, uh--

I would-- I would trade places with her

in a-- in a--

in a second

if it meant that I could
kind of give her the life that...

she deserves and has kind of...

been meant to live 'cause...

nobody... nobody deserves
to live with what she does.

[Angel] It feels like two sumo wrestlers
are sitting on my, like, lower back.

[doctor]
Do they know what caused it or what's--

[Angel] No, I'm still like, finding
the diagnosis,

-I guess you can say.
-Yikes.

[man] Normally, I'd keep you
in the hospital, give you fluids,

and if your CK goes down,
we discharge you home.

But that's it. How often does that happen?

-[Angel] This is my third time this year.
-[man] I think I remember you saying that.

[Angel] They normally don't discharge me
unless my CK's under 1,000.

That's normally, like,
the safe range for them.

-Got you.
-[Angel] My CK, which is creatine kinase--

It's basically my muscle's protein
leaking into my blood.

My highest, I was at 57,000.

[Dr. Sanders] That number represents
millions of tiny barbs

ripping through the delicate tissue
of her kidneys.

That's extraordinary.

That's dangerous.

But it's not a diagnosis, it's a symptom.

It's a symptom
of something underlying her physiology

that makes her muscle break down,

and that's what we need to find out.

[Angel]
That's what I told my doctor today.

"The hospital is my second home."

She just laughed. She didn't even know
what to say. I was like, "It's okay."

The financial side
is one of the worst parts.

I am so in debt, in medical debt,
it's ridiculous.

It's affected my credit.

Doctors have sued me.
They've tried to sue me.

It's-- It's really hard
to afford how much...

medical attention I need.

[Dr. Sanders]
Doctors in the hospital are focused

on making sure
that whatever is trying to kill you

doesn't kill you.

That's good. That's an important job.

But when you have a chronic problem,

you need something different than that.
You need somebody to think,

"Why is this happening?"

And that's the kind of thinking
that happens usually

outside the hospital.

[video call ringtone plays]

[Dr. Sanders] So, Angel,

nice to meet you.

Nice to finally meet you.

When you have

all these body pains,

is your urine--
is that when your urine changes color?

Yeah.

There's days where I have flare ups
and it's a darker yellow.

It's how I know my body
is getting really bad.

But normally every time I get admitted,

-my urine looks like coffee grounds.
-Wow.

Do you know why it's black?

I don't really know.

Well, I'll tell you what I think.

Coca-Cola-colored urine,

usually that's when something called
bilirubin is in it.

It's a breakdown product of blood.

But the other time is when
it's a breakdown product of muscle.

And so what I wanna do is tell your story

and we'll ask people
what they think is going on.

And a lot of those answers

-will be wrong...
-Yeah.

...but some of those answers
might be thoughtful,

and some of those answers
might actually be right.

What do you think getting a diagnosis
is going to do for you?

I think I'm just so excited
to just finally know.

Like, as it's getting worse
and as I'm getting older, I wanna travel.

I'm gonna be a--

I'm hopefully going to be a nurse
in the next couple of months, so...

Fantastic.

Thank you. How am I going
to work three 12s

if I can't even work one eight
at the job I'm at now?

This is just-- I'm over it.

I would really like to write this
and, you know,

have it run maybe next week.

Okay.

[Dr. Sanders]
She'd never had such unbearable pain,

and it had never occurred
in the middle of the night.

Over the past several years,

Angel has been admitted
well over 20 times.

What do you think is going on here?

My name's Angel Parker. I am 23 years old.

I am from Las Vegas, Nevada.

And I have...

My friends posted the article.

She sent me the link and I started reading
and then, you know, I was kind of...

I find it very brave that you're going out
to the world, sharing your story.

Your video really, um, touched me.

I saw it and I was like, "I wanna reply."

So, I was like, okay, this has got to be
a glucose storage disorder.

One family of disorders
that I would strongly consider

are fatty acid oxidation defects.

Angel's symptoms are so similar
to what we see in horses.

[man]
The symptoms aligned up almost perfectly

with the things
that I've experienced in my life.

[man 2] Even if it's not my condition,
I think she has

something similar to what I have.
Some kind of metabolic disorder.

There were some similarities
with Pompe disease.

[woman]
There's a possibility of some sort of

parasitic infection or Lyme disease.

Lyme disease.

I just immediately thought
about McArdle's disease.

McArdle's disease.

McArdle's disease.

[man] My diagnosis is

a carnitine palmitoyltransferase
type 2 deficiency.

[woman]
This sounds like this genetic disease,

something called a CPT2 deficiency.

My friends have this joke
that I'm sort of an amateur Dr. Sleuth.

So I thought a reaction to an antibiotic

could have triggered
these sort of episodes.

And my cat's going
to now make an appearance,

just FYI.

In the interest of full disclosure,

there's the cat. Hi! This is Oscar.

I'm a hobbyist.

I call myself a hobbyist
or a medical investigator.

Nobody would put up with me.

I mean, I tell it exactly like it is.

I'm not afraid to say no to doctors,

and it took me like five minutes.

She's got a mitochondrial issue
because of the breakdown of the muscles.

One of the causes that has to be ruled out

is acute intermittent porphyria.

When I saw Angel's story,
it really resonated with me because...

I have this.

And I would do anything
to help anyone who's going through that.

Angel, I would say to you
try to be your own advocate.

I know how frustrating it is to have to go
to specialist to specialist to specialist.

It is difficult to be
one of the unknowns of medicine.

I really hope you're able
to get some answers.

And I wish you luck
in finding a diagnosis.

[video ringtone plays]

I was thrilled to see that many responses.

You know, you hope for a good response,
but that was a fantastic response.

It's been a lot. It has been.

You know, I was delighted.

Lots of them came from,
you know, regular people.

My favorites, I think,
of the non-doctor types

came from veterinarians.

I love that.

-[chuckles]
-But the top ones were all

what I would call metabolic myopathies.

A myopathy is a disease of the muscle.

You can hear it in the word.
It's from the Greek:

"myo" meaning muscle,

"pathie" or "patheia" meaning illness.

Most of these metabolic myopathies
are caused

when food doesn't get metabolized,

and as a result,
muscles are literally running on empty.

By far the most popular was
something called McArdle's disease.

That disease keeps an individual
from going

to their backup energy source, glycogen.

And people who have McArdle's disease

can't use glycogen.

Oh, okay.

The second one was carnitine
palmitoyltransferase deficiency, CPT2.

And people who have CPT2 can't use fats.

All of these are disorders
that cause the destruction of muscle.

You know, terrible muscle pain,
coffee-colored urine.

Something is happening
that destroyed your muscles.

[Angel] There are so many good ideas.

I just feel like I'm part
of every single one. It's so weird.

Like I-- At the same time,
I feel like I have none of them,

but I relate to every single one.

Like I really... I really don't know.

I think CPT2 and fatty acid syndrome
might be along the same thing.

"A lack of glycogen breakdown interferes
with function of muscle cells."

[Mac] Let's read this one closely.

"Muscle weakness."

"Anemia"?

No.

You can look at this and say,
"Okay, yes, that happens, that happens."

You're getting less of the things
that don't happen

and more of the things that are common.

This one being the first one that says
about your dark-colored urine...

I feel that's a pretty important thing
'cause that's an...

uncommon sign that's common
in these certain things.

Does that make sense?

What are you thinking?

Yeah. I don't know. Nothing is--
I don't know.

I feel like you're not going to read
any of them that says exactly what it is,

'cause if that was the case,
you would have already had a diagnosis.

I know. I know.

Wow, related disorders,
Pompe and McArdle's.

[Angel] No one ever mentioned
half of the stuff that's on there.

We were reading it and, like,
I even started crying.

It's just been, like, super overwhelming.

I don't know.
I think I'm just more scared, honestly.

[video call ringtone plays]

[Angel] Hi, how are you?

-[man] Good. How are you, Angel?
-I'm good.

I read the article. I was just blown away.

I'm not sure if you have McArdle's
disease, of course, but it is very close.

-So you have it yourself, right?
-Yes.

-And your siblings have it too?
-Two of my siblings.

You said that you don't experience
too many symptoms,

it's your sister that does, right?

Right. I haven't had an episode
in, like, five years now,

-which has been really good.
-That's good, yeah.

And it's gotten a lot better ever since
we got a diagnosis for all three of us.

What I'm so scared of is,

like, if I get diagnosed with this,
there's no cure, there is nothing.

It's just a treatment management plan,
and so that just scares me.

Well, the good news,
with McArdle's disease,

is that you can live a normal life.

It's not like a sentence, I wouldn't say.

And... does your sister have kids?

No. Not yet.

She just got married a few months ago.

Part of the reason
why she needs to focus on her health,

so that she can get to a place
where she can handle that.

Yeah.

It's nice to finally know that,
like, other people

know exactly what I'm going through
and the pain I'm going through.

Yeah, it was really good to read
just because of

knowing that it's not just me
and my siblings.

It was interesting. Like, wow, yeah.

-Thank you. Bye-bye.
-Bye.

[Angel] I'd never heard of the CPT2 until

I listened to your Skype.

I think it's like a really good, like,

answer or-- I'd never heard about it.
No one has ever mentioned it to me.

It makes sense.

The main triggers are

exercise, fasting or heavy fat diet.

I have no idea
what your day-to-day diet is, but, um...

It's not like the best diet.
I'm not going to lie.

-Yeah?
-[both laughing]

I just hope that you will feel better soon

-and know what's the problem.
-I really appreciate it.

Thank you so much for just writing in
and reading it.

Like, it means the world to me.

-You're welcome. Bye-bye.
-Bye.

For the longest time, no one even cared
and now, like, I have...

the biggest support system
and the biggest, like...

medical team.

Because, to me,
she's part of my medical team now

because she could have
just found the answer.

I'm going to be so frustrated
if it's a diet too.

I could have just switched
my diet ten years ago.

I wouldn't be in this pain.

[video call ringtone plays]

-[Dr. Sanders] How you feeling?
-[Angel] I'm good.

You've been looking through
all the responses,

so what are your favorite
possible diagnoses?

[Angel] Mac and I were talking

and we think CPT2 sounds like me.

I'd say either that or McArdle's.

But for some reason I have
a strong, strong gut feeling

that it's not McArdle's.

Something about the onset of McArdle's

doesn't jive with what happens to you.

You can exercise for longer

before you get pain than I imagine
people with McArdle's.

I know in an earlier conversation

you were hoping that it wasn't going to be
a genetic issue

because both of the things
that you picked, CPT2 and McArdle's...

inherited.

[Ray] Hi, baby.

Hi, Dad.

[Ray] So what happened?

It could be genetic.

You guys could both have
the recessive gene,

which is why you guys don't have symptoms.

And I ended up getting the gene,
the messed-up gene and--

[Ray scoffs] Yeah, I'm a carrier.

Because this happened to me
my whole life, right?

Dad, if you're a carrier,
that means you don't...

-show symptoms. You just carry the gene.
-Angel.

[Ray] I thought this thing was going
to be something good

and it's turning out to be
the same sh-- stuff...

that we've gotten...

[Angel] I know, so the--
We'll see what the next step is.

What happened a few years ago
when some of the hospitals--

"Oh, we're going to send your case
to the University of..." What was it?

-[Angel] I don't know.
-Colorado. New Mexico.

-I think it was Oregon.
-Oregon. University of Oregon.

To study your case.

Did we hear anything? No.

Nine years we've been
going through this shit.

[stutters] What's it going to be
next month when you go to the doctor?

"Oh, you need to walk more,
or you need to--

You need to do this more.
You need to start smoking cigarettes."

What's it going to be next month?

Why don't they just say they don't know
what the hell they're doing?

-They don't.
-Or they don't know what to do.

[Angel] They say they don't,
but they have to try things.

You don't know how frustrating this is

to see you like this. You're getting ready
to start your life now.

You're ready to graduate.

[Angel]
I know, but we have to start somewhere.

You know, if it's genetic,
I'm not having children.

[Ray] No, I want some grandbabies.

If it's inherited, I'm not-- I can't--

-I won't give my child this.
-I know that. I know that, Angel.

-Or even if--
-So that's what I'm saying.

-I'm hoping it's not genetic either.
-Sometimes it skips a generation.

Then am I setting up my kids for failure
for them not to be able to have kids,

and me never to be a grandma?
I'm not going to do that to my children.

-I grew up wanting a family.
-But you'll do it to me?

That's your other kids
you have to worry about.

I'm going to file bankruptcy.

[Ray] What? Why?

-[Angel] Because I keep getting sued.
-Again? For who now?

[Angel] Another doctor.

[Donna] That's three now.

-How much is this one?
-It was 300, but now it's 1,000.

[Donna] Yeah, but $300,
I feel like they could just go like this.

Seriously, $300.

[Ray] What makes me mad is
you let all these doctors off the hook.

What am I supposed to do?

-And then they come back and sue you?
-Yell at them?

Yell at them?

[Ray] It's the world we live in.

They're going to sue my little girl
for something they didn't do.

[Ray] Fucking assholes.

[Angel] I just feel...

I kind of feel like I'm just going
to have this forever

and there's never going
to really be an answer.

And it just, like, causes so many thoughts
that go through my head, like...

It's like a huge strain
on my relationship now, that...

kids won't be an option.

Because if I don't have an answer,
I don't want a kid 'cause...

that's just something--

A family's something I've always wanted.

And putting everyone else

that is in my life through it,
like, that's not fair.

Just in general, it just sucks.

[Dr. Sanders]
After two weeks and 1,600 responses,

we're still getting submissions.

And one just came in
that really piques my interest.

I am doing the last year of med school
here in Italy,

and I'm doing a thesis
in metabolic diseases.

And we opened the case online

and we were thinking
that specific metabolic exams

that are very important for the diagnosis
were not yet done.

So if it's still not solved,

we can find the diagnosis
in really a few days.

[Dr. Sanders]
Marta works for a pediatric hospital

that specializes in genetic diseases,

including metabolic myopathies.

They're willing to see and test Angel,

and that would be so great for her.

[video call ringing]

Hello.

How are you doing today?

Fine. You?

[Angel] I'm good.

One of the first questions I just had was:

you've already thought about a diagnosis

and doctors here haven't
even mentioned any of that.

What made you lead
to the diagnosis you did?

Well, I'm kind of used
to seeing these symptoms

associated
with these kinds of pathologies.

And when I read your story, there was
one girl with kind of the same symptoms.

So you think it would be super beneficial
if I went to you?

Yeah, I think so.

Once you are there,

the day after, you know
if there is something metabolic or not.

The genetic exam
with also a blood sample to confirm it.

I've never got tested
for anything like this.

-That's crazy.
-Yeah, so...

it would be super awesome
if we could go out there or--

just to get looked at
by people who are interested

-and want to find out.
-Yeah.

You guys sound more on track
than any doctor I've ever had, so...

Um...

If we come out there, I know, like,
money and stuff...

Is this necessarily, like,
an expensive test, or--

Here the health system is public,
so we pay a tax for it.

Oh, wow.

People with this kind of pathology
or with this metabolic disease,

usually have...

I mean, they have not to pay anything
because it's a rare disease.

[Angel] Oh, wow.

Yeah, it's super different out here.

The complete opposite.

Okay, well thank you for your time

-and I really, really appreciate it.
-You're welcome.

And I'm hoping we'll be in touch and...

-maybe...
-Yeah.

...sometime soon we'll be meeting
each other in person.

Have a nice day.

What? What?

[Mac] Did she say it's free?

We need to move to Italy.

[Dr. Sanders] I love the fact
that the possibility for an answer

comes from halfway across the world.

Angel has been waiting ten years
for an opportunity like this.

And these people in Italy are offering
to do this testing for free,

something that would never happen
here in this country.

It's a great opportunity for her.

I am worried, though.

If the testing turns up nothing,

maybe that's really all
that the crowd has to offer.

[Mac] Isn't it weird to think, like,
we're packing to go to Italy?

[Angel]
What I'm excited for, honestly, is, like,

how different the medical side will be,

like, than America.

[draws breath]

You feel nervous at all?

Yeah.

I think I'm genuinely more nervous
for a diagnosis answer

than I am a non-answer.

I don't know what to do with an answer.

What does that mean for my lifetime,
you know?

What does that mean for kids?
What does that mean for you?

-What does that mean for the--
-You.

You're part of this, babe.

Let's take her with us.

[Angel] It's very overwhelming.

Tomorrow they'll test...

my blood, they'll take my urine,

and they'll test me for metabolic
disorders that I've never been tested for.

So I think that's
what makes me even more nervous.

-[man] Angel, pleased to meet you.
-[Angel] Yes.

So we try to solve this problem.

-[doctor laughing]
-I'm hoping.

[doctor] It's very important
to get a diagnosis for Angel

because I'm sure if we got
the good diagnosis,

we can give her the right way of life.

[man] I am quite confident we are talking
about an inherited disorder.

Maybe a problem

of some protein that not necessarily
represents an enzyme,

but something inherited
that doesn't work in a specific protein.

I saw that on your findings
there was no track of metabolic diseases,

if I'm not wrong?

[Angel] No metabolic.

They all thought it was autoimmune.

You guys know

all these different disorders
that I could possibly have.

That's why I just want
some type of answer.

General physicians are not used
to dealing with this kind of problem.

Angel's case is-- The setting
is quite usual for a rare disorder.

We have always to rule out the possibility
that you have something that doesn't work

in the way of using glucose
or fatty acids.

Genetic metabolic disorders
are not so known in adult medicine,

so we can...

We try. We hope.

Angel, I explain to you.

This is a very fast way
to study your metabolism

with just a single drop of blood.

[Angel] Okay.

[Dr. Spada] Our group was one
of the first in the world

to develop this quick method.

Just one drop,
we can get a lot of information.

[Angel] I don't know how it feels

to go a whole year
without being in the hospital.

I don't know how it feels to wake up
and jump out of bed and be okay.

I am excited to see if I do get
some type of answers,

but also, what if it is bad news?

What if there isn't a cure?

Finding a diagnosis would change
my life completely,

and I don't think I would ever

ask for anything else in the entire world.

[speaking Italian]

[in Italian] Low.

[in Italian] Low, low, low.

[Dr. Porta] Is that fucking right?

[Dr. Porta] Okay, Angel.

So we get your results,

and we found that your profile is normal.

Okay.

[Dr. Porta] So we ruled out

not all but many metabolic disorders
by these tests.

The case is not easy to solve,
but we are confident that

by this genetic molecular testing
we are going to...

to find out.

Because to understand what a patient has,

you should know
what he doesn't have before.

We started with 100 disorders
to be diagnosed with.

Now we are narrowing-- We arrived at...

20 or 30 disorders.

For the genetic,
you said it comes back in...

I would say in a couple of months...

[Angel] Mm-hmm.

...we're going to have a response.

Hopefully a diagnosis.

Would have been better
to know within one week, but in your case,

I think that you are
with these symptoms since nine years,

and even if it's two months...

You know, even if it's not, like,
the final answer, it's good to hear that,

you know,
out of the hundreds of other things,

at least she doesn't have a lot of these.

-Like you said, it's narrowing.
-[Dr. Porta] We are narrowing.

That's always good news.

[Angel] They've done more than a lot
of other doctors have,

so I shouldn't be disappointed.
But at the same time,

it just doesn't make sense to me
to hear constantly that I'm so normal

because, like,
clearly there's something wrong.

It's just another "I don't know,"
or "We don't know yet."

[Dr. Sanders] What the doctors did
in Turin was incredibly important.

There are a lot of different kinds
of metabolic myopathies.

There are lots of different tests.

The first ones
didn't really provide answers.

So now they're going straight to:

"Why don't we just sequence
her entire genome

and find out what really is going on?"

It's the most aggressive way
you can approach a genetic disease,

and I think it's the thing
that's most likely to give us an answer.

[Angel] So...

I'm hopeful that, like,
the other tests that they ran,

like it comes back
that something's altered.

I just want some type of answer.

I want to be healthy again.

[video call ringtone]

-[Angel] Hi.
-[Mac] Hey.

How are you?

Fine, fine. And you, Angel?

I'm good, thank you.

So, Angel, your case,
it was very, very difficult.

But now we finally have the sequence
complete of the genetic analysis,

and we've got the diagnosis at the end,

so it's an important moment for you.

Yeah. He said he has it.

-You understand?
-[Angel] Yeah.

So now we have the name of your disease,

and the name of the disease is

carnitine palmitoyltransferase type 2,

CPT2 disease.

So that's, like, a diagnosis? Like, we--

There's an actual name
and diagnosis for it?

Yeah. Definite.

So no more, like, guessing or...?

-No. No. No.
-No.

Basta, as we say in Italy.

Nothing. It's one hundred percent.

It's a simple disease to manage.

We are sure
that with the right diet regimen,

we can manage this disease.

You have to increase the amount of sugar

and to decrease the amount of fatty acids.

And we are happy now

to give you this news,
and we'll help you to manage the disease.

We are always with you for any problem.

I don't even know what to say.
Thank you for everything.

Like, oh, my gosh.

This took nine years to get to you guys.

[Mac] I never thought the sentence,

"Angel's diagnosis is"

like, would ever have,
like, an actual ending.

And-- Oh, jeez.

Stop.

[Dr. Spada chuckling]

That's why he loves you.

-Awesome.
-Thank you.

I don't think you have a problem
to have kids.

Now maybe to be sure,
you, Mac, can also make the study

-to rule out that you are not any...
-[Dr. Porta] A carrier.

[Dr. Spada] ...carrier of mutation.

It's good news.

It's awesome.

I think Marta was very important
in your life.

[chuckles]

Well, we will not forget Marta at all.

We appreciate you guys so much.

You-- I can't say anything.

[all laughing]

You're more emotional than I am.

[doctors laughing]

You-- You guys have...

[voice wavering]
...completely changed our lives...

far more than...

than I ever, you know-- That I could ever
truly, truly think would...

would actually happen. You guys have--

I feel like at 20--

[chuckles, sniffles]

Like, I feel like you guys
just kind of, uh...

like started over our lives,

if that makes sense. So...

Thank you for your words.

-[Mac] Thank you.
-Thank you so much. We--

This is what we wanted for so long,

and it's so weird
to, like, finally have it.

-[Dr. Spada chuckles]
-It's just so crazy.

[Dr. Spada]
You will remember Turin forever!

Oh, forever. We'll get married there.

[Mac] We'll definitely be making
a trip back there for sure.

Grazie mille.

Prego.

-Ciao. Ciao.
-Ciao.

-[Mac] What are you thinking?
-I don't know.

Earlier, when I got the diagnosis,

that's one of the first things
that came to my mind.

Like, "Who is the first person
I wanna tell?"

Of course my parents.

It's so great to close the chapter.

[Angel]
We Skyped the doctors from Italy today.

-Uh-huh.
-[Angel] And...

-I have a diagnosis.
-What?

I have CPT2.

-What is that?
-What is that?

It's a fatty acid deficiency.

One of your parents have it,
but you guys are carriers.

It's like super, super rare in the world
to have two people be carriers

and have a kid together,
so good job, guys.

Good job on finding each other
in the world.

This is, like,
through genetic testing, this is--

-[Mac] Angel has this--
-Okay, so things get better?

-[Mac] Yes.
-[Angel] Once I start my diet plan.

[Mac] Her body does not do well with fats.

-So she has to have--
-What's fats?

Barbecue ribs? You can't have

-no damn ribs no more?
-[Mac] No. Lipids.

[Mac] Like, anything lipids.

So they're saying you just change
the way you eat

and you're not going to get sick no more?

[Angel] It's lifestyle modification, yes.

If people ask me what I have,
you say CPT2.

It's a metabolic disorder--

Our kids won't have it
unless he's a carrier.

So, in other words, this is the first time
a doctor said to you,

"This is what's wrong with you."

That's good, baby, okay. Uh...

Hopefully this shit stops now, you know.

It's great, baby.

Oh, baby.

I'm so happy.

[Angel] It's crazy
what the internet can do.

Where would I be if Marta wasn't just

browsing on internet that day
and read the article? Like, what--

Like, it just took one person
from Italy,

and now
I am a completely different person.

It's so strange to say, like,

we're there and, like, this is it.

Like, there's no more wondering.
There's no more mystery.

There's no more not knowing.

And I think, like, it is going to change
everything. Now I don't feel limited.

It's awesome. It's amazing.

I think the biggest relief
is just that Mac and I can have

a normal relationship.

He's been by my side more
than anyone in my life.

We can be a normal little couple
and do whatever we want.

[sniffles]

[Dr. Sanders] It's so exciting

to hear that she finally has a name
for what's been

killing her for the last nine years.

And to know that these episodes
of terrible pain can be fixed

just by changing how she eats.

[Dr. Sanders]
I do think that crowdsourcing

worked better than I ever imagined.

So now I'm looking forward

to the next patient
that we get to take to the crowd.

We've started getting suggestions
from all over the country.

The one that I'm most interested now

is this smart, charming,
six-year-old girl...

[girl laughing]

...who suddenly started having
terrible seizures

that threatened
to destroy her brain and her life.

[woman]
Are you having a seizure right now?

[doctor]
Can you say have a nice day?

Have a nice day.

[Dr. Sanders] The only treatment
being presented to her parents,

a hemispherectomy, is terrifying.

It's hard to even hear
that the only thing you can do

is remove half of her brain
or disconnect half of her brain.

The consequences of a hemispherectomy
are devastating.

She would lose vision in one eye.

She would lose the ability to move
an entire half of her body,

and maybe even her personality.

[doctor]
The thing that makes this so hard is

if you're going to do a hemispherectomy,
the earlier the better.

[doctor 2]
It's becoming progressively worse,

and it's impairing
Sadie's ability to move.

[Dr. Sanders]
If she doesn't have the operation,

then her brain will
gradually deteriorate and shrink.

Her parents are absolutely desperate
to find other options.

[Sadie's mother]
We have a lot to lose.

How do you change your expectations

of what life...

was?