Diagnosis (2019–…): Season 1, Episode 4 - Looking for a Village - full transcript

[Lisa] Stick out your tongue.

Good. Okay,

open your mouth really wide
and say, "Aaah."

Aaah.

[Lisa] Beautiful.

In medicine, there's this adage

that whenever you hear hoofbeats,
you should think horses, not zebras,

because the chances are
it's gonna be something common.

Were you shaking when you had
the shortness of breath this morning?

-Yeah.
-[Lisa] Yes.

So maybe this is rigors.



But every now and then,
it really is something rare.

It really is zebras.

Oh, I recognize...

Is that Cinderella?

Yeah.

That's certainly how I felt
when I heard about this next patient.

-And he's a cutie now.
-He is a cutie.

The case of this little girl is so unusual

that it's really going to test
the power of the crowd to its utmost.

[girl] Yep.

[woman]
Are you up for a game of Candy Land?

Candy Land! Candy Land!

I'm Breteni, and I am Kamiyah's mom.

She is six years old,



and we are living day to day

with a rare disease.

When it happens, she's paralyzed,

meaning everything is paralyzed:

lungs, everything.

It just sounds like
she is losing her ability

to intake a breath.

[breathing heavily]

Oh, she's going.

She's going down. She's probably gonna
go down straight into the board game.

And then it's like
a light switch turns back on

and her brain's back.

It usually lasts
anywhere from three to twenty seconds,

and according to the calculations
of when we did a clicker test,

it was over 300 times a day.

[Kamiyah] This goes here.

Oops!

It's hard because...

I don't know what to say.

[man] What does it feel like?

Like I'm falling into a wall.

[Breteni] Falling is dangerous.

Accidents happen all of the time.

She was in gym class at school,

and she was paralyzed,

and she went down
and a kid stepped on her face

and her glasses broke,
and she needed five stitches.

[Kamiyah] Hey, Mommy!

[Breteni] A playground is a normal place
where a child likes to play.

That place gives me a heart attack.

[man] Whoa, whoa, whoa...

[Breteni] Oh, she's down. She's down,
and she's all the way at the top.

Tabby, go.

Tabby, go! Tabby, go!

Oh.

-[woman] I think she's back.
-[Breteni] She's got it.

[Breteni sighs]

I hate the park.

I'm not doing this 'cause it's hot.

High five. Thanks for running, kiddo.

You know,
she's not gonna be able to drive.

Um, she can't take swimming lessons.

I don't know
how she's ever gonna live on her own.

I want to know if somebody else has this

and if there's a doctor that could help.

What does the future look like for us?

That's what I want to know.

[Lisa] What could be causing
Kamiyah's strange episodes?

After looking through her medical records,

I didn't have a sense of what she had,

but I did have a very good sense
of what her symptoms were.

These episodes happen
hundreds of times every day.

During these episodes, she's awake,

but she can't seem to use her body.

It just becomes limp.

They last for just a few seconds,

maybe 30 seconds at the most.

What I want to know
is what's causing these episodes.

Is it some problem
with the way her brain works?

Is it some problem
with the blood flow into her brain?

Is it a genetic problem
that manifests itself this way?

Kamiyah's symptoms are so unusual

that it's clear that her diagnosis is also
going to be something very unusual.

[woman] All right.

[laughing]
Kamiyah, is this your favorite part?

-[Kamiyah] Hmm.
-Yeah? Okay.

-[water running]
-How does this water feel, Kamiyah?

-Is it okay?
-Mm-hmm.

Hmm. Ah!

[Breteni]
Kamiyah was beautiful when she was a baby.

I believe that she was made for me.

From the point she was born
until she was a little over two,

her dad was in the picture,
but we ended up getting a divorce,

and I was taking care of Kamiyah
on my own.

But now Cory, my husband,

has been in the picture
for three and a half years.

-Can you look straight in the mirror?
-Mm-hmm.

[hairdresser] And hold really still,
as still as you can.

Good job.

[Breteni] Oh, yeah, she's gone.

Are you ready to sit up and look up yet?

There you go!

I almost didn't catch you that time.

[Breteni] As far as being paralyzed,

I would say that I started noticing it
when she was about eight months old...

because she would start to crawl,

and she'd get to crawling
really, really fast,

and then she would just land on her face.

Could you say, "Yay"?

So, I called up my doctor and I said,

"There's something really wrong
with Kamiyah.

She's tipping forward,

and she's giving us this blank stare."

[Kamiyah giggling]

[Breteni] The doctor said,
"It looks like a seizure."

So, he sent us to a neurologist,

and they started on EEG.

She never had a seizure.
Nothing was spiking.

It almost appeared
as if her brain was powering down,

not having an electrical surge.

So, they sent us to Midwest Neurology
in Omaha.

The doctor's like, "I want to do an MRI.
I want to see if she has a brain tumor."

And so they put her through an MRI machine
and, sure enough, nothing.

That's when one of the neurologists
in Sioux Falls recommended the NIH

because everybody was stumped.

He said
that it is a research-based program

and maybe they could provide us
with answers.

And I said,

"I'll do anything."

I said, "I'm not gonna give up."

[Lisa] The NIH,
or the National Institutes of Health,

is the US government's agency

for medical research.

About ten years ago,

they started
the Undiagnosed Diseases Program

to diagnose people with rare
or unusual medical conditions.

It's a really competitive program

because they challenge themselves
to find very difficult cases to solve.

Because of that,

less than half of the cases they take on
result in a diagnosis.

[Breteni] They accepted us.

We were there for about ten days.

They did everything.
They checked every system:

eyes, ears,

skin,

muscles,

genetic testing,

everything.

We haven't really heard much back.

Maybe they...

can't find anything.

Are we back?

We're back!

[Breteni] I think it's sensory-based,

in my unmedical opinion.

I mean, the lights in here are bright.

That hairdryer's loud.
There's a lot of people. She's excited.

[woman] We've just got to cut
just that longest, longest little bit,

then you can go
pick something out of the treasure box.

[Kamiyah] Yay!

[Breteni] She's gone.

[woman] I shouldn't have told you
about the treasure box.

I'm so used to bribing
so many kids with it. [laughs]

[Breteni]
The potential that joy and happiness

is what paralyzes her
is heartbreaking to me

because if that's what's doing it,

I'm not willing to take it away.

It's not something
I'm willing to sacrifice.

If in order for her to have joy

and to be who she is
means that she's also paralyzed,

then we'll choose paralyzed.

[congregation reciting prayer]

...and forgive us our trespasses...

[Lisa] Breteni is making the best
of a really tough situation.

She has her child with an undiagnosed
and dangerous disorder,

and there's been no news
from the NIH for over two years.

[congregation] ...forever and ever. Amen.

[Lisa] Before I write about any patient
in The New York Times,

I always review all the records
that I can get my hands on.

But when I requested Kamiyah's records
from the NIH,

they seemed reluctant to release them.

A week later,
I got a stunning phone call from Breteni.

All of a sudden, I get an email
from the NIH saying, "Hey...

we should talk about the results

of Kamiyah's testing."

I'm like...

"What results?

What results are you talking about?"

Because I haven't heard
that they even existed,

let alone what they were.

I mean,
we're talking two years of Kamiyah's life.

Good Lord! Uh...

That's a terrible story.

The ball just got dropped.

[Lisa] I don't know what happened
at the NIH, but I suspect

that when we asked for the records,

they found them

and saw that there were results that
they hadn't communicated to the family.

Before I write my article,
I really need to understand what happened,

so I'm going out to South Dakota.

I'm gonna talk to Breteni.

Where did she go?

[laughing]

[man speaking indistinctly]

Wow. You've got a trunk to carry
all of her beautiful things in.

What time
does Cinderella have to be back?

[Kamiyah breathing heavily]

[Lisa] So, you got a call from the NIH...

-recently.
-Yes,

and they said that they would like
to talk with us that next week.

"We really want the whole team there.
We can't do it till next week."

And I said, "I actually

handed you guys my physical child

and let you walk back into
a surgery room with her for four hours,

hoping that you would give me an answer,

and it has been two years now,
and I have heard nothing."

Wow.

Sixteen hours later,
the NIH calls and they're like,

"We got the test results back,

and we found a break in one of the genes."

It wasn't inherited from me or her dad.

It created itself.

[Lisa] Wow.

Nothing could have predicted this.

Nothing could have prevented this.
Nothing would have changed this.

It just happened.

But that it was a break in the KCNMA1.

-K-C-N-M-A-1.
-Gene.

They're like,
"You're not gonna find a lot on it,"

and in that same breath,
"She's the first,"

and so she is, um...

groundbreaking.

You think the NIH
gave Kamiyah a diagnosis?

No.

I think they pointed
in a general direction.

What would it take
for her to have a diagnosis?

I actually asked them that,
and they said it would take...

more people with the same thing,

and it would take a doctor to peg it.

You do not want the kid that has something
that nobody else has.

To be the rare thing.

[tearfully]
Who's gonna care about the one?

At least if I knew
that other people cared,

she could find care.

She could get services.

Being rare...

it's not what you want to be.

I'm sorry.

What can I do...

to help?

What if there's another mom out there
like me

that was looking for an answer?

Maybe they'll stumble upon our story
and then spark a fire.

Maybe we're not the only ones.

We can do that.

We can do that.

It takes a village to raise a kid.

I'm looking for that village.

[woman]
Good morning, Dr. Sanders. How are you?

[Lisa] I'm great.

Dr. Tifft, you were in charge
of the whole investigation

of Kamiyah's illness?

Yes, although it really is
a team of people here.

[Lisa] Tell me what kind of testing

she went through.

In Kamiyah's case,

this was whole genome sequencing,
which is not commercially available.

It's something we do on a research basis,

and they came back with a report
that actually we felt gave us the answer.

Tell me about the genetic abnormality
that she has.

She has a pathogenic variant
in a gene called KCNMA1.

Kamiyah's our first family in our program
who has this diagnosis.

This variant explains her drop attacks.

It explains her, um...

slightly mild developmental delay,

which is likely related
to just having these attacks.

Okay.

Um, do you think there are others
out there in the world like her?

-[Dr. Tifft] For sure.
-[Dr. McNamara] Definitely.

Fantastic.

Um...

Let me get to something
that's a little bit touchy.

Gene sequencing takes about five months,
but in her case, it took two years?

[Dr. McNamara] Her genetic testing
took about five months,

but Kamiyah came to us just at a period

where we were transitioning from
an internal Undiagnosed Diseases Program

to a larger Undiagnosed Diseases Network.

So, her case took a little longer

as we transitioned her
to the Undiagnosed Diseases Network,

and she had such an unusual presentation,

we weren't sure
if she would need more research.

Okay. Thank you so much.

-I won't keep you any longer.
-[Dr. McNamara] All right.

-[Lisa] Bye.
-[Dr. McNamara] Bye.

[Lisa]
It took five months to do the genetics,

so that explains half a year.

There's still at least a year
that seemed to have gone by with nothing.

So, I think I don't have the full story.

I'm not sure they have the full story.

I'm not sure they could tell you
exactly what happened.

You know, if we hadn't called the NIH
and asked for Kamiyah's records,

I'm not sure Breteni and Kamiyah
would have ever found out

what's going on with her.

But what it means to me

is that I'm gonna have to change
the way I write this article,

and I'm gonna have to change
what I ask for from the crowd.

So, I called the NIH this morning...

-Yeah?
-...and I talked to three people,

and they said,
"Well, you know, we saw Kamiyah

right at the point we were expanding
from one place to seven places."

-That's nice to know, right?
-Yeah.

You know, I mean,
I think they feel regretful.

Didn't even think about that

'cause we would have never known.

Mm-hmm.

"So,

do you think
that there are others out there?"

And Dr. Tifft says,

"Oh, absolutely.

I'm sure there are."

Right.

So, she said, at the very least,

if you get more people who have it
and want to be tested for this,

the easier it's gonna be
for insurance companies

to include that in the panel of things
that people get tested for.

So, you know, good news.
You know, your daughter is a hero

and is helping a lot of other kids,

and I hope that maybe
they can help her back.

She...

-I'm sorry.
-It's okay.

[Lisa] I do think that something good
can come out of this.

I do think that they'll be able to find...

community...

information,

but I don't want you to think

that's there's all this suffering for...

for nothing.

Our next case is a little bit different.

[man] What's that?

[Lisa]
It's this little girl named Kamiyah,

and she has what her mother describes
as episodes of, like, paralysis

that'll last, you know, seconds.

So, she will just freeze?

-It's more like drop.
-Drop, yeah, 'cause everything goes limp.

She finally went to the NIH.

So, for two years,

the NIH did not call.

-Oh!
-And so we called

to ask for just the medical records...

-Mm-hmm.
-...of her time there.

-And interestingly--
-And that lit a little fire

underneath them, I suppose?

They got a call just,
you know, days later--

That's the funny thing
about The New York Times, right? [laughs]

You know, so, to some extent,

that means that Kamiyah doesn't really fit
in our paradigm

because she kinda has a diagnosis.

But what we could do
to make a difference in this child's life

is to use the reach of your magazine

and see if there's anybody
who recognizes themselves.

Right. Are there any others?

-Are there any others anywhere?
-Yeah.

That would be a cool...

test of the system

to see if it can do that.

[Lisa] It would be.

[Breteni]
Do I wonder if Kamiyah's gonna get worse?

Very much so.

I expect the worst, and I hope the best.

She's one in a million,

and it's actually what her name means:

"one and only."

Kamiyah means "one and only."

[Lisa] Usually, I ask my readers
to help find a diagnosis.

This time, I'm gonna ask the crowd
to help find others out in the world

who have the same genetic mutation
that Kamiyah has:

KCNMA1.

Maybe together we can help Breteni
build her village and find some answers.

I'm Breteni, and I am Kamiyah's mom.

She is dealing with
intermittent paralysis.

Anytime I see a parent or a child
in this situation,

I just feel like I've got to do something.

There it was on the front page:

my old friend, KCNMA1.

I'm chief of pediatric neurology...

Your heart just bleeds for the other mom

who thinks that there's nobody else
out there for her.

I do practice yoga

because breathing and keeping
the oxygen flowing helps a lot.

I live in Copenhagen.

I saw the article in the Facebook group.

I just thought
it's one of life's mysteries.

[man]
It is literally a loss of muscle control.

It can affect the face, your knees.

For me...

it's like that,

and, you know, I just kind of melt.

[woman] My daughter, Hilary,

will be doing something,

and then she'll just pause.

She'll just stop.

Like, she kind of goes like this.

Seeing the words "KCNMA1" in something

as big as, you know,
The New York Times Magazine,

it's like, "Wow!"

[Breteni] Holy smokes.

You know, we kind of wondered
what this would do,

and it essentially opened the floodgate.

After the article ran,
my phone just blew up.

It was all the people from this group

just frantically hoping
that I was on Facebook, and...

they're all at varying levels of this...

I don't know, for lack of a better term,
disease,

KCNMA1.

And I saw my son's diagnosis,

and I just about dropped to the floor!

[laughing]

So, I started the Facebook group

when we got Jonah's diagnosis

because I felt absolutely desperate.

I really want a cure. That's what I want.
I want a cure for my son.

Okay.

This is Jonah.

Can you say hi?

[Jonah] Hi!

[Kristen] Yes, he's my happy boy.

-Right, Jonah?
-[Jonah] Yeah.

[woman]
Those movements that Kamiyah was doing

in that one video in the article,

Allie used to do those all day long,

and it came back that she had this KCNMA1.

I feel like it's a diagnosis,

but it's a diagnosis to nowhere.

I think that our kids
are gonna help future kids,

you know, and future parents
not go through what we went through.

[Elizabeth]
All right. You've gotta come out of it.

You've gotta come out of it.

There you go. You coming out of it?

Good job!

I'm Lissi. I'm from Denmark.

I have my son, Atle, who's 12 years old.

When he was smaller,
he had 150 episodes a day,

and they were up to 40 seconds.

Now he has, I think,
40 seizures every day,

and they last up to five minutes.

So, he has fewer of them,

but they are really long now.

I feared finding somebody that was older,

and it's getting worse,

not necessarily getting better.

Like, that scares me.

Five minutes is a very long time.

[Lisa] In the Facebook group alone,

Breteni found ten other families

who had kids
with the exact same genetic mutation.

But the biggest surprise
was when we heard from Andrea Meredith.

I study the KCNMA1 gene,

which encodes an ion channel.

[Lisa] This is a research scientist
who's spent her entire career

investigating this particular gene.

And I was reading The New York Times
one day, and I came across this article.

I just exploded.

[laughs] All of a sudden,

everything that I had
gotten into science for

and started studying
this particular channel for

could potentially be linked
to a human patient

that I could help.

[Breteni] What else would you call it
besides "incredible"?

It's what we hoped for.

[Dr. Meredith]
From the minute that I found out

that there was a patient in this world

that had a mutation in the ion channel
that I've studied for close to 20 years,

I couldn't sleep at night.

I just couldn't sleep.

And so we knew that
there were human mutations,

but none of the patients
had been publicly identified.

And where do you find
the location of the mutations?

-Are they clustering in the gating ring?
-Yeah.

[Dr. Meredith] I run a basic research lab
with graduate students and postdocs

at the University of Maryland
School of Medicine,

and we study an ion channel called KCNMA1,

and this is a very unique type
of potassium channel.

The channel controls how much potassium
actually goes out of the cell,

and this potassium affects a variety
of different physiological processes,

from how neurons in the brain
talk to each other

to how muscles contract.

Potassium channels, in general,

dampen the excitability
of neurons and muscle,

and so it's very easy to imagine

that if you have dysfunction
in a potassium channel,

that that can cause hyperexcitability
in the brain, like seizure,

or hyperexcitability of the muscle.

So, what I have in front of me

is a cage of mice,

and these mice are special, actually,
because we have taken the KCNMA1 gene,

and we have actually deleted that gene

and made the channel
completely non-functional.

Under normal circumstances,

the mice have very good coordination.

They're able to crawl around.

They're calm.

They basically
have normal mouse behaviors.

But when we delete the gene for the mouse,

for the KCNMA1 channel,

you can see this mouse
is more hyperactive.

And you can see when I hold him,
he develops a tremor,

and that tremor actually prevents him
from walking properly.

For many years, we had been focusing

on how this ion channel functions
in the body,

and we imagined that there would be

a big breakthrough
at some point in the future,

and we weren't sure

where that breakthrough
was gonna come from.

And so it was Kamiyah
that opened up the door for us.

I found that, for the past two years,

unbeknownst to me, there had been
a group of patients on Facebook

that all carry mutations in KCNMA1.

One of the things that I've realized

by talking to patients
and their families

is there are several different
types of mutations in the KCNMA1 gene,

and these mutations
express in different ways.

So, for example,
these drop attacks that Kamiyah has,

it's not something
that we've seen in a mouse.

It's not something that we would have ever
predicted to therapeutically treat.

And so that's something

that the animal models
can actually help us sort out.

So, part of what I wanted
to talk to you about and offer to you

of making a model for this mutation
in mouse

so that we could understand
where her symptoms are coming from.

So, you're actually creating mice

-with the genetic mutation?
-Yes.

So, you can think of it
as them being born that way

because you inject
these genetic modifications into embryos.

Got you. Okay.

And that's sort of the starting place

for trying to figure out what drugs
would target this set of symptoms.

It's not like I can hand you
a drug tomorrow and say, "This is a cure,"

but I want you to feel like
what you're getting is...

[tearfully]
...someone who's dedicated to it.

I have a daughter too.

She's eight years old.

And I know that I would want...

anybody to help me in any way

if I were in your shoes.

I appreciate that so much.

[video call ringtone]

[Lisa] Were you surprised
that there was somebody out there

-who was actually studying this gene?
-[Breteni] Yeah,

and I feel like we hit the jackpot
with Andrea Meredith

because she legitimately
cares about the kids

and the science.

-That's amazing.
-I believe that the Meredith Lab...

um, was gonna make mouses
of all the different gene variants,

and so that's incredibly positive.

I know that everybody
is incredibly thankful

and a little more hopeful now.

I think they were feeling really hopeless.

That's great.

You know, I had my own
sort of hopes and expectations,

um, but this actually
is more than I had hoped for.

What did you hope for,

and how does this sort of match up
with what you were expecting?

I actually didn't...

I didn't really know what to expect.

I have a tendency to hope
a lot more than expect.

[Lisa laughs]

That's a good quality.

[Breteni] Can you say "Kamiyah"?

-Kamiyah.
-[Breteni] Good job!

How big are you?

-Big.
-[Breteni] How big?

That's so big! Good job!

[Lisa] In the Facebook group, there were
lots of kids with this abnormality.

Lots of very different symptoms.

But of all the children in the group,

only one has drop attacks
that look just like Kamiyah's.

[video call ringtone]

-[Breteni] Hi!
-Hi!

So, I'm Breteni.

As far as I can tell
from the Facebook group,

it seems like Atle
is the closest to Kamiyah.

When I watch other people's videos, um,

I'm like, "That's not quite it,"
but when I saw your guys', it was...

"That's it!"

I mean, seeing the video of Kamiyah
is the first time I've thought that,

"Okay, this is actually the same."

What's life like for him now?

I mean, he's 12 years old now,

but he's not developmentally 12 years old.

So, he's more like...

six years.

[Kirstine]
Things have changed a little bit.

The length of the episodes
has been getting longer.

But slowly.

Yeah, it happened so slowly.

Did anybody tell you
that it would get worse like this?

[Kirstine] No.

But his breathing is only affected
when the seizures are really long.

I can understand
Kamiyah has breathing problems.

She does.

I can almost hear her having an episode
from another room.

It's totally the same.

-Exactly the same.
-Yes.

[Kirstine] When you hear it,
then you know you have to catch him.

Yeah.

Of course, I dream that one day,

the perfect doctor makes a medicine
that can make the fall-outs go away,

and then something will be easier for him.

Yes, of course.

I think that there's gonna be a chance
in our kids' lifetime.

I was thinking that,

you know, on this adventure,

maybe I would create

a movement that would
affect another kid's lifetime

if it didn't get to affect Kamiyah's.

But I'm starting to see
that there's a hope.

There's a possibility
that it could affect ours,

and I hope you guys can feel that,

all the way from, you know,
the United States

to where you are.

Thank you.

You're really welcome,
and thanks for talking to me today.

It doesn't have to be
the last time we talk together.

No, it doesn't.

Maybe we'll come to Denmark,

and you can show us some fine pastries.

I would appreciate that deeply. [laughs]

You'll be so welcome.

-Bye.
-Bye.

Bye.

[Breteni] It's funny to see the same thing
all the way across the world.

[breathing heavily]

[Breteni] I think that it would be helpful
to meet Atle's mom,

you know, but then you start
looking into it and you're like,

"Okay, Denmark's not next door." [laughs]

[Kamiyah] Are we going on a plane now?

[Breteni] In a little bit.

But I've got to go

because whatever we come up with
for Kamiyah

in the United States with Andrea Meredith

could take years
before they'll find a solution or a cure.

Foxy, huh?

So, the fact that Atle is older,

it gives us insight
to what's going to happen with Kamiyah.

You know, we're gonna be able
to see, possibly,

what our path looks like.

[Cory] Okay, Kamiyah, hold my hand.
We're crossing the road.

All right.

And they have the heat lamps.

[Kamiyah] Wow! Look at these!

-[Cory] Let's do this. We're doing this.
-[Kamiyah] We're doing this.

[Cory] Could we get
one of these small chocolate hearts?

-[woman] These here?
-[Cory] Yep.

[Kamiyah] Tak!

[woman] You're welcome. Bye-bye.

[Cory] Bye-bye.

[Breteni] Come here, Kamiyah.
Look at their house! Look at their bike!

[Kamiyah] Wow!

[knocking]

[in Danish]
Atle, can you open the door?

-[in English] Hi!
-Hi!

Come in!

-Come in, Kamiyah.
-Hi!

-Hi!
-Yay!

Hi!

-[Kirstine] It's so good to see you. Come.
-[Lissi] Please come in.

[Breteni] We made it so far.

Hi.

Nice to finally meet you.

[in Danish]
If she's crying, it's because she's happy.

Yeah.

-[in English] Hi, Kamiyah.
-Hi!

How are you?

Hi!

Hi!

-Hi!
-I'm Cory.

[Lissi] So good you're here.

-[Cory] Kir, pleasure to meet you.
-[Kirstine] Pleasure to meet you too.

I told you I cry a lot!

[Kirstine] Hi, Kamiyah. Hi!

Is it a fox you've got there?

Is it a little fox?

Come inside.

[Lissi]
Is there anything you want to play with?

[laughing]

[Lissi] We can take them out.

[Breteni] This is gonna sound like
we're terrible parents,

but we were like,
"Hmm, there's no sharp objects.

She's probably not going to hit anything,"
and then we kind of let it go.

[Kirstine] Yeah.

[Lissi] Atle sometimes wears a helmet.

When we are in new places,
he wears a helmet.

[Kirstine] When he was young,
I could just smile politely

when he walked into people
because he's...

"Sorry," and I smiled.

But now when he's so big,
people get really angry at him.

Sometimes we make him wear the helmet
only for show.

-Only for the sake of--
-Only for communicating to people

that, actually,
there's something with this guy.

[Breteni] It's like we've been waiting
to meet these people,

and then once we meet them,

it's like we've known them forever.

[laughing]

She's laughing just as much as Atle.

It's so cute.

Meeting Kamiyah,
I just want to look at her

all the time because... it's...

It might be the one chance I have
to see somebody

who is a lot like Atle.

I kind of know her without knowing her.

I think because I have this very physical
thing with her, like... Yeah.

I mean,
I know she's going to fall and tip over,

but I will catch her,
and so I'm just really aware of her.

I'm making a garage, see?

-[Lissi] You are also making a garage.
-[Kamiyah] Yeah.

[Lissi] So, Atle's, like, putting
a lot of people on his garage.

[Lissi laughing]

-[Lissi speaking Danish]
-[Cory] Oh, there she goes.

[Lissi] Oh.

[Lissi, in Danish]
Atle, this is like when you're falling.

-[Atle] Yeah.
-[Lissi] Yeah.

[Lissi]
Do you know what just happened?

-[Atle] Yeah.
-[in English] He saw that.

[woman] Is that just like you, Atle?

-[in Danish] Was that just like you?
-[Atle] Yes.

[in English] Yes,
it's like when he has his episodes.

-It's the same.
-[Kamiyah] He has them too?

[Lissi] Yes, he does.

He has exactly the same one as you have.

Isn't that weird?

-[Kamiyah] Yeah.
-[Lissi] Yeah.

[laughing]

Weird kids.

Weird kids. Weird, sweet, perfect kids.

[laughing]

[Breteni] That's amazing!

Holy smokes!

[Lissi] Is she sleeping?

[Breteni] Oh, she's just toast, yeah.

I don't even know if she can wake up,
honestly.

Hi.

[Lissi, in Danish]
How is it to ride on the giraffe?

Good.

-[Lissi, in English] Oh, Atle just has a--
-[Breteni] Are her eyes open?

[woman] Atle's having an attack.

[Breteni] Oh, he is? I haven't seen it.
I've never seen one.

I've never gotten to see one.

I'm sorry,
I've never got to see it in person.

[speaking Danish]

Atle really likes the big roller coaster
and the Golden Tower and stuff,

but he always gets
these major episodes somewhere in them.

-[Cory] Yeah.
-[Lissi] So I'm like,

"Should we do it or not?"

Actually,
I don't know if it's good or not.

And then we'll end up doing them anyway.

[Lissi] Of course.

Yeah.

[Breteni] I'm so sorry.

[Lissi] Hmm. He's okay.

[Breteni] I know.
It's easier when it's your own kid.

-It breaks my heart.
-[Lissi] Yeah, I know.

Do you know, you will figure something out
before this happens to Kamiyah.

I feel so bad
that I can't help him right now.

But he's really okay.

He really is.

[Lissi] He's quite happy.

Yeah.

But, I mean,
this hasn't happened overnight,

so you just get used to it.

It's quite horrible to say,

but, I mean, that's what happens.
You know that. Yeah.

[Cory] Here he comes.

Okay, he's back.

[Breteni]
Everything looks exactly like Kamiyah.

Exactly like Kamiyah.

It just looks longer.

I fear that they become that long,

but I now know
that if they do become that long...

I have somebody to turn to
and somebody that understands.

[Kirstine, in Danish]
You want me to sit here?

[Breteni, in English] But I have hope
in the fact that he came right out of it

and got right back on that ride.

It's gonna be just like us.

Sometimes we're gonna be
stuck in that moment

and we can't move and we're paralyzed,

but we're just gonna have to
get right back on that ride.

[laughing]

[woman]
Kamiyah, did you like going on a big trip?

What was the best part?

Seeing Atle.

[woman] How come?

He has the same thing that I do.

Atle?

[Breteni] Yeah, look at that.

Isn't that cute?

[Kirstine]
It brought a lot of energy to our family

just to know that somebody else was there.

Many times...

I've been thinking that,

"Well, don't get your hopes up."

But right now I've got my hopes up.

[yelling cheerfully]

[Kamiyah] I drove good.

You drove good?
Oh, there you go, boss. High five.

[laughing]

[Breteni]
I think there is a lot of hope now.

The collaboration of all the people
that have come forward

and the fact that
we're all not alone in this anymore,

it adds a little bit more color
where there was once a whole lot of gray.

[giggling]

[Lisa] The next patient's case is
much more than it might appear at first,

and it's going to test the crowd
in a really different way.

You want to get Freya to get you up?

My name is Lashay Hamblin,
and I live in Utah.

I've been throwing up for two years.

I haven't kept fluids down.

It's just my body's
going through something

that no one can really figure out.

I'm a momma bear.

I admit it.

I will fight to the ends of the earth
for my daughter.

[Lashay]
I'm at that point where it's like,

"Is anyone gonna help me?"

[moaning]