Diagnosis (2019–…): Season 1, Episode 2 - Second Opinions - full transcript
Sadie,7, suffers from frequent seizure. Her parents are looking for a second opinion then the extremely invasive treatment that was proposed.
[guitar being strummed]
[producer] Sadie, tell me,
what are you gonna be when you grow up?
A rock star.
[producer]
What kind of music are you gonna play?
-What?
-[producer] What kind of music?
Famous music.
[laughs]
[Dr. Sanders]
Our next patient is Sadie.
[man] You're very funny.
I know.
[Dr. Sanders] Sadie is this
really charming seven-year-old
who has this absolutely terrible
brain disease.
[doctor]
Can you say, "Have a nice day?"
Have a nice day.
[Dr. Sanders]
When I heard about Sadie's story,
it made me wanna do something to see if...
I could do anything to help.
There's nothing more difficult than
having a sick child,
even if you're a doctor.
I remember when my younger child
was sick, she was wheezing.
She was maybe three or four.
She came into my room,
and she woke us up and she said,
"Mom, I can't breathe."
And so I'm like,
"Okay, I'm taking you to the hospital."
So I called up our pediatrician
and he said, "Did you listen to her?"
And I said,
"Yeah, and she said she couldn't breathe."
Pause.
"With your stethoscope?"
So, of course, I hadn't even considered
listening to her with my stethoscope
because I was just reacting as a parent.
I can't imagine what Sadie's parents
are going through.
-[doctor 1] Bone thickness.
-[doctor 2] Five.
[Dr. Sanders] Sadie's parents have to make
some really tough decisions for her soon,
and I hope the crowd can help.
[whirring]
[woman] Hold onto me.
-[woman] Come here. Hold my hand.
-You and I need to hold your hand too.
[Sadie] Whoo!
[woman] All right. You got it?
-Yeah.
-Yeah.
[producer] What's your name?
Sadie Hana Gonzalez.
And I'm seven.
And I live in Queens.
[satnav] Continue on Grand Central Parkway
for three miles.
[girl chuckles]
It's okay.
Mama.
[Ruby] Her Rubik's Cube got broken.
-No.
-[Sadie's mother] What happened to it?
You can fix it.
[Sadie's mother]
Are we scooting or not scooting?
Yeah, scooting.
[Ruby] Well, we have to be careful
if we have ticks, right?
Yeah, but this--
There's not deer in Flushing Meadows.
[Ruby] Let's go.
[laughs]
Whoo!
[Sadie's mother] Sadie, if you feel like
you get wobbly, just stand still, okay?
Whoo!
[Sadie's mother] Sadie, remember,
if you feel wobbly, then you stop.
-[Sadie] Stop, guys.
-[Sadie's mother] Okay. Take a break.
[Ruby] She has a seizure!
I don't like the seizures.
Sometimes it happens to my leg or my toe.
Every time I walk, I almost fall down.
[producer] When you have a mouth seizure,
can you talk?
No, not really. I try.
-[producer] Tell me about that.
-But I just clap.
When they hear me,
they come.
[clapping]
[producer] You having one now?
You okay, sweetie?
[exhales]
[gulping]
-[producer] You okay, sweetie?
-Yeah.
[Sadie's mother]
We just never thought this could happen.
How do you change your expectations of...
of what life...
was?
[Sara] Sadie was born with her eyes open,
and she was
just taking in everything and just...
She just had this sort of old soul
and was very interested in people
and everything.
She's just a character.
She's always been since...
since the moment she was born.
She was just Sadie.
She's always been herself.
[cheers]
[in Spanish] She's unique. She is...
bright,
happy, content.
I don't know where this illness came from.
But for six years of her life,
she was 100%...
and then suddenly this?
It's like a dream.
[Sara] So we went away between
Christmas and New Year's.
We got an Airbnb in the Catskills
just to get away for a couple of days.
The kids had a great time,
and then we drove home.
It was December 28th. We drove home.
We had dinner at home. Everybody was fine.
And then, um...
the morning of the 29th,
Jose called me and said, you know,
"Something's wrong with Sadie.
She seems strange."
I got home and...
she just wasn't responsive.
So I called 911.
The doctors were able to recognize
that she was having a seizure.
[producer] So you woke up in the hospital?
[Sadie] Yeah, I was sleeping.
I was like, "Where am I?"
-[producer] Was that scary?
-No.
I was just... curious.
[Jose]
She never had another visible seizure
the whole time
that we were in the hospital,
but they had hooked her up to an EEG
and said that she was constantly having
subclinical seizures the whole time
and they didn't want to send us home
until she was 24 hours seizure-free.
We were there for almost two weeks.
But then very early February,
she started having visible seizures.
[Sara] You okay, sweetie?
Sadie's seizures don't respond
to medication at all.
The doctors put her on steroids
which immediately changed her physically.
From one day to the next,
you know, she blew up
and, within three weeks, gained 20 pounds.
[Ruby] Can I try?
[Sara] The steroids were supposed
to help with inflammation,
but it didn't stop anything,
but it did cause a lot
of other physical problems for her.
[Sara] Turn this way.
I can't.
-[Sara] Can you sit up?
-No.
-[Ruby] Okay.
-[Sara] Help me.
[Jose, in Spanish] I can't stand
to see my daughter this way.
And I pray to God a lot...
that she can return to who she was before.
She's very affected by this.
[Dr. Sanders]
Sadie's story really touched me.
The quality of her life has
worsened dramatically over the past year,
and her parents are worried
that they're gonna lose her
to a disease
that they don't even understand.
[Jose] Sadie?
You okay, baby?
Sadie's now having a seizure
every couple of minutes.
They're called focal motor seizures
and they affect just one part of her body.
For Sadie, it's mostly her mouth
and her tongue,
her left arm, and her left leg.
During these seizures,
she's awake and aware,
but totally powerless to stop them.
Soon after her visit to the ER,
Sadie's parents transferred her care
to the neurology department
at Columbia Presbyterian.
Sadie had several MRIs that showed
that she didn't have a brain tumor
and that she hadn't had a stroke,
and she had a spinal tap
that showed no sign of infection,
nor any antibodies
that would suggest an autoimmune disease.
But after just four weeks,
Sadie's symptoms did lead some doctors
to propose one diagnosis.
And it's called Rasmussen's,
and it's just really one of
the worst diagnoses you can get.
Rasmussen's encephalitis
is characterized by chronic inflammation.
In this disease,
a certain kind of white blood cell,
T lymphocytes, invade half of the brain
and destroy it.
The standard treatment for Rasmussen's
is something known as a hemispherectomy
where all the connections between
the diseased half of the brain are cut.
This stops all the seizures
and prevents the disease from spreading
to the healthy part of the brain.
But the consequences of a hemispherectomy
are devastating.
Sadie would lose vision in one eye,
she would lose the ability to move
an entire half of her body,
and if her language center is located
in that half of her brain,
she'd even lose the ability to speak.
Superman is on the way!
[Dr. Sanders] But if this diagnosis
of Rasmussen's is correct,
and if she doesn't have the operation,
then her brain will
gradually deteriorate and shrink.
Most children who don't have the surgery
become paralyzed on one side
of their body within a few years.
[Sara] Once you Google
Rasmussen's encephalitis,
it's a pretty horrifying thing
to read about
because it's a disease with no cure.
Can you help me, please?
[Sara] They did a biopsy,
and they could prove
that she has encephalitis,
which means her brain is inflamed,
but they couldn't prove anything else.
In my opinion, I feel like they sort of
landed on this decision
and stopped looking for other reasons
for the encephalitis.
[video call ringtone]
Hi, I'm Sara.
[Dr. Sanders] Hello.
So do you have any familiarity
with Rasmussen's encephalitis?
It's really rare, and I think
that's one of the reasons it's so hard
to make a diagnosis.
It's really a clinical diagnosis,
which is to say
it's a diagnosis that has to be made
based on how the patient does.
You know, it's not any single test.
It's how the patient looks
and how they progress.
It's somewhat up to the doctor's
interpretation, I think,
-how they--
-Sure,
and I would say that...
probably not very many kids
-get that diagnosis after four weeks.
-Right.
How did that make you feel?
You know, going from having a...
very athletic child
to having them tell you that, you know,
she has this incurable disease,
that the only thing you can do is,
you know, remove half of her brain
or disconnect half of her brain, it's...
sort of mind-boggling.
I mean, it's hard to even hear that
and think that it's...
Like, how could that be the only thing?
How could that be
the only thing you do to a kid?
-So--
-Wow.
Yeah.
I'm really hoping to...
find a different,
like, direction to go in with Sadie
because I feel like where we are right now
doesn't feel right to me.
Sure.
-Yeah.
-Absolutely.
Well, what I was gonna suggest
is that you go to see a doctor outside
-to get a second opinion.
-Right.
Bye-bye.
[Dr. Sanders] Sadie's parents
are desperate for other opinions,
opinions that might give them
other options.
[Sadie] That's the wind.
[Sara] Just the wind.
-The wind knocked you over?
-Yes.
[Dr. Sanders]
I tell patients all the time,
you might not think it,
but your doctor wants you
to get a second opinion.
You know, nobody likes to be stumped,
but a second opinion,
a second set of eyes, a second brain
to think about something,
that's important.
If I was told that my child had a disease
that required her to be maimed,
I would be doing the same thing.
So you're coming here for a second opinion
about everything. Is that right?
-Uh-huh.
-Okay. Good.
[Dr. Marcuse] You were admitted
to Columbia for ten days.
[Sara] Yeah. They put her on Keppra
for her seizures.
She was only on Keppra for maybe, um...
during the hospital
and then about maybe two weeks after.
-It didn't-- It made her very aggressive,
and it didn't seem to be
the best medication for her.
Mom, why did it make me aggressive?
-Sometimes medication can do that.
-[Dr. Marcuse] That's what it does.
I don't really understand.
[Sara]
It's a side effect of the medication.
What's a side effect?
[Sara] Something that could happen to you
when you take something.
I got a curse?
[Sara] No. Not a curse.
-Did steroids help her with the seizures?
-No, they didn't help at all,
-and then the side effects were major.
-Okay.
-Can we put you up here for a few minutes?
-Yeah.
Yeah? So that I can examine you more.
[Dr. Marcuse] Hi.
I'm Lara Marcuse.
It's nice to meet you, sir.
-[Sadie] That's my dad.
-That's your dad?
I figured it had to be,
not just, like, some guy coming in.
Okay, ready for the knees?
Okay.
One, two.
[giggles]
Are you trying to kick me?
No! I did not do it on purpose.
I know. I know.
[Sara] Are you having a mouth seizure
right now, lovie?
[Dr. Marcuse] Yes, you are. Can you, "ah"?
Can you say, "Have a nice day?"
Have a nice day.
Okay.
Can you spread your fingers nice and wide?
Okay, don't let me move
these fingers. Strong...
[Sadie] Leg!
Leg? Okay. Let me see.
Oh, yeah. All right.
Okay. Do you still feel like
you're having it?
-No.
-It's already done.
-Yep.
-It's all right.
We're gonna throw that one away.
Okay.
[Dr. Marcuse]
So I think in this office visit,
I saw maybe eight seizures.
I can say, just from this brief time,
that there's a part of the brain
that's in the frontal area
where the mouth is
that's involved for her.
-[Sara] Mm-hmm.
-And then very far away from that,
in the mesial side of the brain
where the leg is, that's involved,
and then behind all that,
in the sensory area where the arm is,
that's involved as well.
So we tend to be pretty aggressive
with surgery here,
and a hemispherectomy is the--
like, it's the gold standard
for Rasmussen's.
And it's the thing
that controls the seizures.
[Dr. Marcuse] So seizures aren't
particularly healthy for the brain.
Seizures are kind of like
fight night for the brain.
Like, it traumatizes the brain,
and over time,
it will decrease the ability
of the brain to function,
so that's why we do everything we can
to really control seizures
'cause if we can control seizures,
we can help to preserve
the function of the brain.
So the thing that makes this so hard
is if you're gonna do a hemispherectomy,
the earlier the better.
So that's the decision
that's in front of us.
[Dr. Sanders] Hemispherectomy doesn't
have to cause paralysis
on one side of the body.
If the patient gets this surgery
when they're really, really young,
because their brain is so flexible,
so plastic that they can replace
what they're not getting.
But the opportunity of regaining control
of that part of your body,
it's a very short window.
Sadie's past that age.
It doesn't go past four or five,
and Sadie was six when this started,
so beyond the likely window.
So she might be able to walk,
but she'll never walk completely normally.
It's possible that she'll have
a normal intelligence.
Maybe she won't be as brilliant
as she might have been,
but of course we never know
what might have been.
-[birds chirping]
-[guitar music playing]
I'm doing a sad song.
-It's not funny.
-[Sara chuckles] I'm sorry.
[Sara chuckles]
It's called...
"Miss You, Jordan."
-She's gonna be crying soon.
-I know! She's gonna get upset.
-Hey!
-Sorry. Sorry.
[Sadie crying]
[door closes]
How dare you do that to me?
What did I do? I didn't do anything.
[Sadie] I'm sad. When I hear...
sad songs,
I think of Jordan.
[Sara] Sadie has this friend
that she had in kindergarten,
and then she changed schools
and she never saw him again.
Sara] We don't wanna see you so sad,
but it's okay to cry, lovie.
You can get your cries out.
But do you want a hug?
[Sara] Jordan represents
the last year that she was happy
and healthy and she was in kindergarten
and she wasn't dealing
with what she's dealing with now,
so that's where she's able to sort of
express the feelings of sadness
about what's been going on.
[Jose] I don't like to see you like this.
Why are you getting upset?
[Jose, in Spanish]
The hardest part for me...
is seeing her like this,
suffering day after day.
[Sadie] I want him to come back.
[Sadie sniffles]
[Jose, in Spanish]
If this surgery happens,
I don't have words...
for what will happen to our daughter.
You feel better now you talked to Papa?
-No, Mom.
-No?
I'm sad.
Yeah, I know.
It's okay.
[Sara] I just want her to be happy.
And healthy.
It's hard to sort of change...
your way of thinking for...
From, you know, your child could do
anything they want
to, well, maybe they can't.
[Sadie breathing shakily]
[Sara whispers]
It's okay, lovie. Just breathe.
Okay?
[Dr. Sanders] If it's Rasmussen's,
the possibilities
of what's going to happen
are pretty limited and terrible,
and the therapy is also terrible.
So they don't want it to be Rasmussen's.
They're hopeful
that it could be something else.
They're hoping for a better diagnosis.
But if it is Rasmussen's,
they want to know if a hemispherectomy
is really the only available option
for Sadie.
"'Sadie,' she called.
Her daughter turned her head
to face her mother
but didn't seem to see her.
It was as if she looked
straight through her.
Sara immediately called 911.
As they waited for the ambulance,
the mother could not
take her eyes off Sadie.
She was awake
but not really there."
My name is Sara.
I live in Queens, New York,
and I am...
the mother of Sadie who's seven.
It was forwarded to me by a friend,
and she sent me a link to it and said,
"This is you!"
Everybody and their mother
sent me this article.
I think my mother actually sent me
the article.
When I read the case, it intrigued me.
She has some parallels in her illness
that were similar
to my daughter's own experience.
[woman] Bartonella is classed
as an emerging pathogen.
It's spread by fleas, ticks, even spiders.
So my daughter ended up having
Lyme disease,
which was causing a lot of her symptoms.
Rasmussen's encephalitis will cause...
paralysis of the opposite side of the body
almost completely,
and then it eventually leads to dementia.
The consensus really was all on that
hemispherectomy would be the best thing.
So our daughter is seven now.
She was five at the time of her surgery.
[woman]
After surgery, it was very difficult
because she could no longer use
her right hand.
[man]
Someone who has Rasmussen's encephalitis
was treated using
transcranial magnetic stimulation to...
suppress the seizures.
The device is a small device,
probably about as big as
your two thumbs put together,
and it could stimulate
a really small area of the cortex.
Epilepsy just gets worse and worse,
and the sooner that you do surgery,
the better results and the better chance
you have for recovering.
You need to make the decision,
as difficult as that is.
This is really hard
and my heart goes out to them.
When it's your kid's life at stake,
you need to go do inquiry elsewhere.
You need to exhaust everything first.
[Dr. Sanders]
Hundreds of people wrote in,
offering Sadie's parents their thoughts
on what they should do.
Many thought that the diagnosis
of Rasmussen's was correct
and urged the parents to get the surgery
as quickly as possible.
Others thought that maybe her seizures
could be controlled
with the use of electricity
applied directly to the brain.
A third group thought that maybe this was
a neurologic version of Lyme disease.
I'm not surprised by that suggestion
because Lyme is often suggested
whenever anybody has anything
that's very strange in the brain.
[Sara] "Glucose."
Her amino acids are always weird.
"Tumor."
Only 24 people recommend the surgery.
Sounds good.
[Sara] This is really interesting because
more people say Lyme than hemispherectomy.
Almost half of the other diagnoses
would be Lyme.
Wow. That's crazy.
And this is gonna sound super weird,
but I had this dream.
We were in the cabin
where we were when all of this started,
and someone, like, lifted up a mattress
and it was, like, crawling in ticks.
It was like ticks everywhere.
So, anyway, when I read...
a few submissions about Lyme disease,
it didn't... surprise me.
It made a lot of sense to me,
in a way that nothing...
nothing about Rasmussen's
or the history of it
makes any sense in my brain.
So...
[woman] So my daughter...
ended up having Lyme disease,
which was causing a lot of her symptoms.
If you could find
a Lyme-literate physician
to order those tests--
My daughter came back equivocal,
but once we started treating,
it came back positive.
So she's doing-- Your daughter's doing
much better now than she was a year ago,
-or--
-Yes. Yes. She's doing better,
but she still is very young for her age,
you know, but I'll take that over,
you know, not functioning.
I mean, she was bedbound,
in a wheelchair, for a long time.
I mean, she was really sick.
So you are your daughter's best advocate,
and doctors are human,
they don't know everything
but, you know, like they say,
a worried mom does better research
than the FBI.
I mean, I--
I mean, that's all I've done.
[Sara] I would love to hear
a little bit about why you wrote in
to the article.
Well, I lived it. [laughs]
We lived it. Bradley's actually even here.
-Would you like to see him?
-Sure.
This is Bradley.
You have to step back a little.
-Say hi.
-Hi.
Hi. Nice to meet you.
Nice to meet you.
-[Alicia] So, Bradley's 20.
-Uh-huh.
He grew up fine till he was three,
and then he started to have
staring spells.
Like, almost staring off into space.
And it wasn't until he had an MRI
that the MRI showed
the left side of the brain
was different
from the right side of the brain.
So then what we did was we went
to, I think, Columbia in the city.
We saw a doctor,
and he was the one who looked at me
and said,
"Oh, nothing we could do can help him.
The only thing that could--
The only thing to help your child
is to remove half his brain."
And, like, that's how he told it to me.
You know, things were
a lot different 17 years ago.
You know, I can only imagine
that they've mastered the surgery
even more so.
Listen, he has his challenges.
I'm not going to say everything is great,
but if you told me I would be
where I was today,
and that my son would be
a junior in college
and will have graduated and...
done what he's done, I would say
you're crazy and there was no way.
[laughing]
It's scary,
but we didn't have another option.
You know, the alternative was
watch him seize constantly,
and what kind of quality of life
was that?
I mean, that's how we saw it.
Okay.
[exhales]
[man] I read the story.
It seemed that your sweet daughter
has what looks in many ways to be
Rasmussen's encephalitis.
There are variations of Rasmussen's,
and Rasmussen's is something
that we don't understand everything about.
Well, what would be your opinion on, um,
a sort of stimulating device implanted?
That's the RNS device.
We have very little experience with that
in children
with hemispheric structural epilepsy.
But New York is the center
where a lot of that's been done,
and so those opinions
are probably available to you.
Mm-hmm.
In competent hands,
probably the only downside of that
is more time going by
where your daughter is seizing.
-[Dr. Sanders] So, Sara...
-Yes.
Tell me what appealed to you the most.
In my mind, option A is
finding out if there is
some type of pathogen or Lyme
that caused this
and that's still treatable.
Then the device implantation.
And then option C is
that it is, you know,
definitively Rasmussen's,
there's nothing else to be done,
and we have to go ahead
with the hemispherotomy.
And that's a lot more options
than we had two months ago.
We do the easiest thing first,
that's blood work,
to make sure that we're not
missing anything
'cause that's my biggest sort of issue,
-that I don't want to miss anything.
-Right.
[Dr. Sanders] A friend of Sara's saw
the article in The New York Times
and she recommended a doctor
who could test Sadie for Lyme disease.
-I'm Sara's mom, Joy.
-[doctor] Oh, hi.
-Nice to meet you.
-[Joy] Hi, nice to meet you.
[doctor]
Okay, so let's start with the lab results.
[Sara] Okay.
The standard testing for Lyme disease
involves measuring antibodies.
Now, the problem with antibody testing,
especially for Sadie,
is that Sadie's had
two different treatments
that might alter the results
of antibody tests.
Because of that problem with antibodies,
I arranged for blood to be tested
at ArminLabs in Germany,
and...
she was very strongly positive
for Lyme disease using
their T lymphocyte assay.
[laughs]
And so I spoke with Dr. Marcuse
about the results
and about antibiotic therapy.
Dr. Marcuse was agreeable
to the use of doxycycline,
so my recommendation
is that we start doxycycline.
We would do this for three weeks
and see how things go.
I'm curious to know
what we'll see in three weeks.
Well, the best-case scenario
is that there's a dramatic improvement
in the seizures
over the next three weeks.
Mom, can you--
I want to see your face right now.
[laughing]
[laughing]
Yeah, it was crazy.
But the number's supposed to be--
If it's above six, it's positive,
and her number was, like, 15.
Wow. That's so amazing.
-Yeah.
-That's so amazing.
It would make good--
for a good happy ending, for sure.
[Dr. Sanders]
Although Sadie tested positive for Lyme,
even after six weeks of antibiotics,
there was no improvement in her seizures.
Mom, another leg!
[Sara] She did get much worse.
She got really sick,
and she had seizures
that were really strong.
[Dr. Sanders] So Sara and Sadie
are gonna go meet
one of Dr. Laura Marcuse's colleagues,
who performs the kind of
electrical implant surgery
that was suggested by the crowd.
The presumed diagnosis, the hypothesis is
that Sadie has this condition called
Rasmussen's encephalitis.
I must tell you that I am very impressed
by how good this brain looks.
Looks like you've got a very high IQ,
like a smart, smart kid,
and I don't see any of the telltale signs
of this thing called Rasmussen's,
which are usually atrophy or shrinkage
of that side of the brain.
[Joy] It seems to me as if
you're saying that it is something else.
It's behaving the same way as Rasmussen's,
meaning that it's becoming
progressively worse
and it's impairing
Sadie's ability to move.
The way that it's not behaving
like Rasmussen's
is that it's coming on
sort of a little later
and it's not shrinking
that side of the brain.
It may be because it's too recent,
it hasn't been going long enough.
So...
that's a perfect-looking MRI,
but the biopsy showed
that there was encephalitis here.
Now we're getting somewhere
because now we say with inflammation,
with irritation,
the nerve cells themselves
are being affected,
and now your brain is irritated
and it causes seizures.
I would be less concerned
about naming the diagnosis
and focus very much on
protecting this sweet thing.
We know, as epilepsy doctors,
that we've got to take care
of the problem. We must stop it.
If Sadie's right hemisphere,
her right brain,
was shrunken and scarred
and not functioning,
I would say, "Yes, that's okay.
She can have a hemispherotomy."
But at age seven,
I would say absolutely no...
if you have a better option.
If you have a device
that acts like a pacemaker...
Scientists made one of these for the brain
and tested it for ten years
before saying that it's okay to use.
Here, there's this little tray
that fits in the skull
and the battery goes in there,
and this battery and computer are so smart
that it can read your brainwaves.
[Sadie] Oh, la-la!
-[Joy laughing]
-[Dr. Ghatan] And-- Exact--
That was my sentiment
when they introduced it to me.
I said exactly the same thing.
[Dr. Sanders] A neuropace is a way
to short-circuit seizures.
When this device senses
abnormal electrical activity beginning,
it tries to abort the seizure
before it even happens.
The hope is
that if you can stop the seizures,
then you'll stop the destruction
of the brain
and allow Sadie to have a normal life.
Our center has done the most kids
out of anybody in the world,
now up to 18.
I have seen this work so well
in young people,
as well as old people, that...
as this is an option now, I wouldn't go
the other way toward destruction.
[Dr. Ghatan] Okay.
-Thank you.
-[Dr. Ghatan] Thank you for coming.
You all right?
Was that a hug or a help with leg?
-Hug.
-Hug, okay.
[cards shuffling]
[Sadie] Uno!
-What?
-You looked!
No.
Did too.
[Jose, in Spanish]
Tomorrow is our daughter's surgery.
It's a huge step...
that we are going to be making.
[in Spanish] Red.
[Jose chuckling]
Good job.
[Jose, in Spanish] We don't know
if it's the best option,
but for now we believe...
it's the best we can do for her.
[in English] You okay?
I am!
Okay.
[in Spanish] Blue.
Really,
she's suffering a lot,
and not just her, the whole family.
And that's what we want
and why we are deciding to do the surgery.
So that she can go back to...
Hi, Papa.
...being herself.
[Sara] Sadie's generally a very happy kid,
even now.
But she's really nervous
about the surgery.
I'm hopeful that this will actually
change something for her.
Just go, like... [clears throat]
-Mmm.
-Okay. Try again.
[Sara]
She misses being herself and misses...
just being regular,
I think, is how she puts it.
[Sadie playing guitar]
♪ I miss ♪
♪ Riding scooters ♪
♪ I miss riding ♪
♪ Scooters ♪
♪ I like to play ♪
♪ Soccer with my ♪
♪ Dad ♪
[Dr. Ghatan]
How are you, young lady?
-[Sadie] Good.
-Are you feeling okay?
You're all set to go.
Not nervous, I hope.
I'm really nervous.
You're really nervous?
Do you know that this step,
compared to everything--
in comparison to everything else
you've been through...
it's that big of a step. It's tiny.
You're dreaming sweet dreams.
When you wake up,
you're gonna feel so much better.
Our plan today is to place the electrodes
in the areas of the leg motor cortex,
since many of her seizures involve
the movement of her foot
and the weakness of her leg.
And then other electrodes
that go to the hot spots
that we identified with our...
our stereo EEG monitoring.
At the same time, we place this computer,
it's the responsive neuro stimulator,
and through this single approach,
now we have a tool
that is both diagnostic and therapeutic.
[buzzing]
[Dr. Ghatan] Okay.
The first electrode to be placed
will be the inner hemispheric
leg motor electrode.
[man] Right about here's
where we can start.
-I'll just go back--
-[Dr. Ghatan] Excellent.
Let me see the template, please.
Yeah, that looks better.
Drill, please.
[drill whirring]
[Dr. Ghatan]
Please hold the tail of the electrode
and I will take it.
Perfection.
So here we've opened the dura...
to be able to place
the last three of the leads.
Okay, sir, let's see the...
RNS pulse generator.
Holy moly, Whac-A-Mole-y!
Okay, good.
Let it rip!
[Dr. Sanders]
Once the neuropace device is implanted,
it's programmed and then checked
to make sure that it's reading
the targeted areas of Sadie's brain.
[Dr. Marcuse] All right.
Electrode contact looks terrific.
There's quite a bit more spiking here,
but this is actually good for her,
but this is spiking like crazy.
I'm just gonna point.
[Dr. Ghatan]
Yeah. Look at those rhythmic spikes.
[Dr. Marcuse] So on that second chain...
-[Dr. Ghatan] Yeah.
-...it's a spike and a spike.
That leg area has really gigantic spikes
but actually, for her,
this is pretty good, and that's probably
'cause she's under anesthesia.
[Dr. Marcuse] The contact looks really,
really, really good.
[Dr. Ghatan] Excellent.
[monitor beeping]
[Dr. Ghatan]
Hey, everybody. Everything went perfectly.
Sadie G, everything went perfectly!
How are you, sweet girl?
How do you feel?
[Sadie] Tired.
[Dr. Ghatan] Tired. I would expect that.
Can you give my hand a squeeze?
-Nice work.
-[woman] Push against my hand.
-Thank you.
-[Dr. Ghatan] Good.
[woman] How about push against this hand?
Thank you, Sadie.
[Dr. Ghatan]
Everything went perfectly, guys.
Couldn't have been--
Couldn't have been better.
[woman] Sadie, does anything hurt you?
No.
Okay. That's excellent news.
[Dr. Ghatan]
We're gonna do one CAT scan today.
-[Sara] Okay.
-Just to show where all the electrodes are
and we'll take it from there.
See you soon. Thank you. Thank you.
Typically,
this takes a while to...
reach a therapeutic level.
You can just take a little rest.
[Dr. Ghatan]
I'm confident that within a few months,
we will have been able
to make a difference
in controlling Sadie's epilepsy.
Everybody's a little bit different,
but I'm confident
that we're gonna get there quickly.
[Sara] Ruby, come here.
We're going on the other side.
You got it, Sadie? Good job.
Okay.
I did it by myself.
I know. I'm so proud.
[Sara]
It's been a month since the surgery.
Sadie is doing really well.
She's still on a lot of medication.
But she just went back to school,
and I feel much more hopeful.
The doctors feel positive,
but we have to wait and see.
It takes months of using the device
to find out if it works.
[Sadie]
We have to find the computer chip.
[Sara] Okay.
[Sadie] I'm halfway done.
[Sara] Now it's smaller.
She's moving her eyebrows.
[Sara] She thinks it's cool
that she's, like, cyborg,
'cause she has a computer chip
in her brain.
I don't know how she's so strong.
Throughout all of this, she--
I just don't know how she handles it,
but she does.
-How have you been doing? You look good.
-Okay.
Should we look at your brainwaves?
Do you wanna to see them?
-Okay.
-All right.
So these are your brainwaves, my dear.
They're looking actually, for Sadie,
really pretty good,
and I'm gonna deliver the stimulation
that we're gonna program her at.
So basically every time
a seizure's happening,
she'll get a little bit of stimulation.
[Dr. Marcuse] Given everything
she's dealing with, Sadie looks fantastic.
[Dr. Marcuse]
The road ahead is always a mystery.
You know, in my career, I've only seen
one person with Rasmussen's encephalitis
have this device placed,
and they're doing very well.
Is this your right leg or your left leg?
-My right leg.
-I was gonna say that. I knew that.
[Dr. Marcuse] What I'm hoping for
is that over the next six months,
she really flourishes
and does extremely well.
That's what I really, really,
really want for her.
Let's do this one.
Nice.
-[Sara] She has this theory that...
-Oh, my goodness.
...her eyebrows are connected to her foot,
so if she raises her eyebrows...
-Wonderful.
-...then she can raise her--
-She can flex.
-That's really good.
That's better than I've seen
in a long time.
I don't understand the theory
but it seems to help her, so... [laughs]
[Dr. Marcuse]
This foot's doing great right now.
One of the things I thought
about Sadie from the beginning was, um,
there is that inflection point
with diseases
where new treatments come out
and things get better, and, um,
hemispherotomy doesn't feel like
a modern technique.
It's really kind of, like, barbaric.
It doesn't feel like something
we'll tell our grandchildren
and they'll be, like, "Yeah, we do it just
the same way that you did it in your day."
Like, no.
Bye, sweet girl.
[Dr. Marcuse] So we're hoping
that we're at that inflection point.
Come, come.
[Sara] Before this all started,
I felt very, very stuck and very trapped.
I feel so lucky that the crowd gave us
something to look into
that the doctors were ignoring.
Good job.
[Jose, in Spanish]
I honestly have no idea how...
since so many people who helped us...
how we'll ever be able to thank them all
for what they did for us.
[Dr. Sanders] I think what the crowd did
for Sara and Jose
is to give them a sense
that they had time
to explore other options.
For Sadie, that made
all the difference in the world.
Now it's time for me to move on
to my next patient...
a 44-year-old man with some
really mystifying symptoms.
Symptoms that have confused and baffled
dozens of doctors,
including the Mayo Clinic.
No one really knows what's wrong with him
'cause he's getting worse every day,
so really, he needs to be figured out
before it's too late.
[man] Come on, girls.
My name's Willie Reyes.
I am 46 years old.
I'm suffering from two lesions
on my brain.
I have lost maybe 40% of my memory.
We've been to the Mayo Clinic
15 times.
Had two brain biopsies, multiple MRIs,
but they still can't figure out
what they are.
[woman] Willie, at one point, said,
"Why don't you just leave me?
You and Serena would be better off
without having to deal with this."
[Willie] Now I'm hoping
somebody will see this
and maybe point me
in the good direction,
or I could go and find a diagnosis.
[producer] Sadie, tell me,
what are you gonna be when you grow up?
A rock star.
[producer]
What kind of music are you gonna play?
-What?
-[producer] What kind of music?
Famous music.
[laughs]
[Dr. Sanders]
Our next patient is Sadie.
[man] You're very funny.
I know.
[Dr. Sanders] Sadie is this
really charming seven-year-old
who has this absolutely terrible
brain disease.
[doctor]
Can you say, "Have a nice day?"
Have a nice day.
[Dr. Sanders]
When I heard about Sadie's story,
it made me wanna do something to see if...
I could do anything to help.
There's nothing more difficult than
having a sick child,
even if you're a doctor.
I remember when my younger child
was sick, she was wheezing.
She was maybe three or four.
She came into my room,
and she woke us up and she said,
"Mom, I can't breathe."
And so I'm like,
"Okay, I'm taking you to the hospital."
So I called up our pediatrician
and he said, "Did you listen to her?"
And I said,
"Yeah, and she said she couldn't breathe."
Pause.
"With your stethoscope?"
So, of course, I hadn't even considered
listening to her with my stethoscope
because I was just reacting as a parent.
I can't imagine what Sadie's parents
are going through.
-[doctor 1] Bone thickness.
-[doctor 2] Five.
[Dr. Sanders] Sadie's parents have to make
some really tough decisions for her soon,
and I hope the crowd can help.
[whirring]
[woman] Hold onto me.
-[woman] Come here. Hold my hand.
-You and I need to hold your hand too.
[Sadie] Whoo!
[woman] All right. You got it?
-Yeah.
-Yeah.
[producer] What's your name?
Sadie Hana Gonzalez.
And I'm seven.
And I live in Queens.
[satnav] Continue on Grand Central Parkway
for three miles.
[girl chuckles]
It's okay.
Mama.
[Ruby] Her Rubik's Cube got broken.
-No.
-[Sadie's mother] What happened to it?
You can fix it.
[Sadie's mother]
Are we scooting or not scooting?
Yeah, scooting.
[Ruby] Well, we have to be careful
if we have ticks, right?
Yeah, but this--
There's not deer in Flushing Meadows.
[Ruby] Let's go.
[laughs]
Whoo!
[Sadie's mother] Sadie, if you feel like
you get wobbly, just stand still, okay?
Whoo!
[Sadie's mother] Sadie, remember,
if you feel wobbly, then you stop.
-[Sadie] Stop, guys.
-[Sadie's mother] Okay. Take a break.
[Ruby] She has a seizure!
I don't like the seizures.
Sometimes it happens to my leg or my toe.
Every time I walk, I almost fall down.
[producer] When you have a mouth seizure,
can you talk?
No, not really. I try.
-[producer] Tell me about that.
-But I just clap.
When they hear me,
they come.
[clapping]
[producer] You having one now?
You okay, sweetie?
[exhales]
[gulping]
-[producer] You okay, sweetie?
-Yeah.
[Sadie's mother]
We just never thought this could happen.
How do you change your expectations of...
of what life...
was?
[Sara] Sadie was born with her eyes open,
and she was
just taking in everything and just...
She just had this sort of old soul
and was very interested in people
and everything.
She's just a character.
She's always been since...
since the moment she was born.
She was just Sadie.
She's always been herself.
[cheers]
[in Spanish] She's unique. She is...
bright,
happy, content.
I don't know where this illness came from.
But for six years of her life,
she was 100%...
and then suddenly this?
It's like a dream.
[Sara] So we went away between
Christmas and New Year's.
We got an Airbnb in the Catskills
just to get away for a couple of days.
The kids had a great time,
and then we drove home.
It was December 28th. We drove home.
We had dinner at home. Everybody was fine.
And then, um...
the morning of the 29th,
Jose called me and said, you know,
"Something's wrong with Sadie.
She seems strange."
I got home and...
she just wasn't responsive.
So I called 911.
The doctors were able to recognize
that she was having a seizure.
[producer] So you woke up in the hospital?
[Sadie] Yeah, I was sleeping.
I was like, "Where am I?"
-[producer] Was that scary?
-No.
I was just... curious.
[Jose]
She never had another visible seizure
the whole time
that we were in the hospital,
but they had hooked her up to an EEG
and said that she was constantly having
subclinical seizures the whole time
and they didn't want to send us home
until she was 24 hours seizure-free.
We were there for almost two weeks.
But then very early February,
she started having visible seizures.
[Sara] You okay, sweetie?
Sadie's seizures don't respond
to medication at all.
The doctors put her on steroids
which immediately changed her physically.
From one day to the next,
you know, she blew up
and, within three weeks, gained 20 pounds.
[Ruby] Can I try?
[Sara] The steroids were supposed
to help with inflammation,
but it didn't stop anything,
but it did cause a lot
of other physical problems for her.
[Sara] Turn this way.
I can't.
-[Sara] Can you sit up?
-No.
-[Ruby] Okay.
-[Sara] Help me.
[Jose, in Spanish] I can't stand
to see my daughter this way.
And I pray to God a lot...
that she can return to who she was before.
She's very affected by this.
[Dr. Sanders]
Sadie's story really touched me.
The quality of her life has
worsened dramatically over the past year,
and her parents are worried
that they're gonna lose her
to a disease
that they don't even understand.
[Jose] Sadie?
You okay, baby?
Sadie's now having a seizure
every couple of minutes.
They're called focal motor seizures
and they affect just one part of her body.
For Sadie, it's mostly her mouth
and her tongue,
her left arm, and her left leg.
During these seizures,
she's awake and aware,
but totally powerless to stop them.
Soon after her visit to the ER,
Sadie's parents transferred her care
to the neurology department
at Columbia Presbyterian.
Sadie had several MRIs that showed
that she didn't have a brain tumor
and that she hadn't had a stroke,
and she had a spinal tap
that showed no sign of infection,
nor any antibodies
that would suggest an autoimmune disease.
But after just four weeks,
Sadie's symptoms did lead some doctors
to propose one diagnosis.
And it's called Rasmussen's,
and it's just really one of
the worst diagnoses you can get.
Rasmussen's encephalitis
is characterized by chronic inflammation.
In this disease,
a certain kind of white blood cell,
T lymphocytes, invade half of the brain
and destroy it.
The standard treatment for Rasmussen's
is something known as a hemispherectomy
where all the connections between
the diseased half of the brain are cut.
This stops all the seizures
and prevents the disease from spreading
to the healthy part of the brain.
But the consequences of a hemispherectomy
are devastating.
Sadie would lose vision in one eye,
she would lose the ability to move
an entire half of her body,
and if her language center is located
in that half of her brain,
she'd even lose the ability to speak.
Superman is on the way!
[Dr. Sanders] But if this diagnosis
of Rasmussen's is correct,
and if she doesn't have the operation,
then her brain will
gradually deteriorate and shrink.
Most children who don't have the surgery
become paralyzed on one side
of their body within a few years.
[Sara] Once you Google
Rasmussen's encephalitis,
it's a pretty horrifying thing
to read about
because it's a disease with no cure.
Can you help me, please?
[Sara] They did a biopsy,
and they could prove
that she has encephalitis,
which means her brain is inflamed,
but they couldn't prove anything else.
In my opinion, I feel like they sort of
landed on this decision
and stopped looking for other reasons
for the encephalitis.
[video call ringtone]
Hi, I'm Sara.
[Dr. Sanders] Hello.
So do you have any familiarity
with Rasmussen's encephalitis?
It's really rare, and I think
that's one of the reasons it's so hard
to make a diagnosis.
It's really a clinical diagnosis,
which is to say
it's a diagnosis that has to be made
based on how the patient does.
You know, it's not any single test.
It's how the patient looks
and how they progress.
It's somewhat up to the doctor's
interpretation, I think,
-how they--
-Sure,
and I would say that...
probably not very many kids
-get that diagnosis after four weeks.
-Right.
How did that make you feel?
You know, going from having a...
very athletic child
to having them tell you that, you know,
she has this incurable disease,
that the only thing you can do is,
you know, remove half of her brain
or disconnect half of her brain, it's...
sort of mind-boggling.
I mean, it's hard to even hear that
and think that it's...
Like, how could that be the only thing?
How could that be
the only thing you do to a kid?
-So--
-Wow.
Yeah.
I'm really hoping to...
find a different,
like, direction to go in with Sadie
because I feel like where we are right now
doesn't feel right to me.
Sure.
-Yeah.
-Absolutely.
Well, what I was gonna suggest
is that you go to see a doctor outside
-to get a second opinion.
-Right.
Bye-bye.
[Dr. Sanders] Sadie's parents
are desperate for other opinions,
opinions that might give them
other options.
[Sadie] That's the wind.
[Sara] Just the wind.
-The wind knocked you over?
-Yes.
[Dr. Sanders]
I tell patients all the time,
you might not think it,
but your doctor wants you
to get a second opinion.
You know, nobody likes to be stumped,
but a second opinion,
a second set of eyes, a second brain
to think about something,
that's important.
If I was told that my child had a disease
that required her to be maimed,
I would be doing the same thing.
So you're coming here for a second opinion
about everything. Is that right?
-Uh-huh.
-Okay. Good.
[Dr. Marcuse] You were admitted
to Columbia for ten days.
[Sara] Yeah. They put her on Keppra
for her seizures.
She was only on Keppra for maybe, um...
during the hospital
and then about maybe two weeks after.
-It didn't-- It made her very aggressive,
and it didn't seem to be
the best medication for her.
Mom, why did it make me aggressive?
-Sometimes medication can do that.
-[Dr. Marcuse] That's what it does.
I don't really understand.
[Sara]
It's a side effect of the medication.
What's a side effect?
[Sara] Something that could happen to you
when you take something.
I got a curse?
[Sara] No. Not a curse.
-Did steroids help her with the seizures?
-No, they didn't help at all,
-and then the side effects were major.
-Okay.
-Can we put you up here for a few minutes?
-Yeah.
Yeah? So that I can examine you more.
[Dr. Marcuse] Hi.
I'm Lara Marcuse.
It's nice to meet you, sir.
-[Sadie] That's my dad.
-That's your dad?
I figured it had to be,
not just, like, some guy coming in.
Okay, ready for the knees?
Okay.
One, two.
[giggles]
Are you trying to kick me?
No! I did not do it on purpose.
I know. I know.
[Sara] Are you having a mouth seizure
right now, lovie?
[Dr. Marcuse] Yes, you are. Can you, "ah"?
Can you say, "Have a nice day?"
Have a nice day.
Okay.
Can you spread your fingers nice and wide?
Okay, don't let me move
these fingers. Strong...
[Sadie] Leg!
Leg? Okay. Let me see.
Oh, yeah. All right.
Okay. Do you still feel like
you're having it?
-No.
-It's already done.
-Yep.
-It's all right.
We're gonna throw that one away.
Okay.
[Dr. Marcuse]
So I think in this office visit,
I saw maybe eight seizures.
I can say, just from this brief time,
that there's a part of the brain
that's in the frontal area
where the mouth is
that's involved for her.
-[Sara] Mm-hmm.
-And then very far away from that,
in the mesial side of the brain
where the leg is, that's involved,
and then behind all that,
in the sensory area where the arm is,
that's involved as well.
So we tend to be pretty aggressive
with surgery here,
and a hemispherectomy is the--
like, it's the gold standard
for Rasmussen's.
And it's the thing
that controls the seizures.
[Dr. Marcuse] So seizures aren't
particularly healthy for the brain.
Seizures are kind of like
fight night for the brain.
Like, it traumatizes the brain,
and over time,
it will decrease the ability
of the brain to function,
so that's why we do everything we can
to really control seizures
'cause if we can control seizures,
we can help to preserve
the function of the brain.
So the thing that makes this so hard
is if you're gonna do a hemispherectomy,
the earlier the better.
So that's the decision
that's in front of us.
[Dr. Sanders] Hemispherectomy doesn't
have to cause paralysis
on one side of the body.
If the patient gets this surgery
when they're really, really young,
because their brain is so flexible,
so plastic that they can replace
what they're not getting.
But the opportunity of regaining control
of that part of your body,
it's a very short window.
Sadie's past that age.
It doesn't go past four or five,
and Sadie was six when this started,
so beyond the likely window.
So she might be able to walk,
but she'll never walk completely normally.
It's possible that she'll have
a normal intelligence.
Maybe she won't be as brilliant
as she might have been,
but of course we never know
what might have been.
-[birds chirping]
-[guitar music playing]
I'm doing a sad song.
-It's not funny.
-[Sara chuckles] I'm sorry.
[Sara chuckles]
It's called...
"Miss You, Jordan."
-She's gonna be crying soon.
-I know! She's gonna get upset.
-Hey!
-Sorry. Sorry.
[Sadie crying]
[door closes]
How dare you do that to me?
What did I do? I didn't do anything.
[Sadie] I'm sad. When I hear...
sad songs,
I think of Jordan.
[Sara] Sadie has this friend
that she had in kindergarten,
and then she changed schools
and she never saw him again.
Sara] We don't wanna see you so sad,
but it's okay to cry, lovie.
You can get your cries out.
But do you want a hug?
[Sara] Jordan represents
the last year that she was happy
and healthy and she was in kindergarten
and she wasn't dealing
with what she's dealing with now,
so that's where she's able to sort of
express the feelings of sadness
about what's been going on.
[Jose] I don't like to see you like this.
Why are you getting upset?
[Jose, in Spanish]
The hardest part for me...
is seeing her like this,
suffering day after day.
[Sadie] I want him to come back.
[Sadie sniffles]
[Jose, in Spanish]
If this surgery happens,
I don't have words...
for what will happen to our daughter.
You feel better now you talked to Papa?
-No, Mom.
-No?
I'm sad.
Yeah, I know.
It's okay.
[Sara] I just want her to be happy.
And healthy.
It's hard to sort of change...
your way of thinking for...
From, you know, your child could do
anything they want
to, well, maybe they can't.
[Sadie breathing shakily]
[Sara whispers]
It's okay, lovie. Just breathe.
Okay?
[Dr. Sanders] If it's Rasmussen's,
the possibilities
of what's going to happen
are pretty limited and terrible,
and the therapy is also terrible.
So they don't want it to be Rasmussen's.
They're hopeful
that it could be something else.
They're hoping for a better diagnosis.
But if it is Rasmussen's,
they want to know if a hemispherectomy
is really the only available option
for Sadie.
"'Sadie,' she called.
Her daughter turned her head
to face her mother
but didn't seem to see her.
It was as if she looked
straight through her.
Sara immediately called 911.
As they waited for the ambulance,
the mother could not
take her eyes off Sadie.
She was awake
but not really there."
My name is Sara.
I live in Queens, New York,
and I am...
the mother of Sadie who's seven.
It was forwarded to me by a friend,
and she sent me a link to it and said,
"This is you!"
Everybody and their mother
sent me this article.
I think my mother actually sent me
the article.
When I read the case, it intrigued me.
She has some parallels in her illness
that were similar
to my daughter's own experience.
[woman] Bartonella is classed
as an emerging pathogen.
It's spread by fleas, ticks, even spiders.
So my daughter ended up having
Lyme disease,
which was causing a lot of her symptoms.
Rasmussen's encephalitis will cause...
paralysis of the opposite side of the body
almost completely,
and then it eventually leads to dementia.
The consensus really was all on that
hemispherectomy would be the best thing.
So our daughter is seven now.
She was five at the time of her surgery.
[woman]
After surgery, it was very difficult
because she could no longer use
her right hand.
[man]
Someone who has Rasmussen's encephalitis
was treated using
transcranial magnetic stimulation to...
suppress the seizures.
The device is a small device,
probably about as big as
your two thumbs put together,
and it could stimulate
a really small area of the cortex.
Epilepsy just gets worse and worse,
and the sooner that you do surgery,
the better results and the better chance
you have for recovering.
You need to make the decision,
as difficult as that is.
This is really hard
and my heart goes out to them.
When it's your kid's life at stake,
you need to go do inquiry elsewhere.
You need to exhaust everything first.
[Dr. Sanders]
Hundreds of people wrote in,
offering Sadie's parents their thoughts
on what they should do.
Many thought that the diagnosis
of Rasmussen's was correct
and urged the parents to get the surgery
as quickly as possible.
Others thought that maybe her seizures
could be controlled
with the use of electricity
applied directly to the brain.
A third group thought that maybe this was
a neurologic version of Lyme disease.
I'm not surprised by that suggestion
because Lyme is often suggested
whenever anybody has anything
that's very strange in the brain.
[Sara] "Glucose."
Her amino acids are always weird.
"Tumor."
Only 24 people recommend the surgery.
Sounds good.
[Sara] This is really interesting because
more people say Lyme than hemispherectomy.
Almost half of the other diagnoses
would be Lyme.
Wow. That's crazy.
And this is gonna sound super weird,
but I had this dream.
We were in the cabin
where we were when all of this started,
and someone, like, lifted up a mattress
and it was, like, crawling in ticks.
It was like ticks everywhere.
So, anyway, when I read...
a few submissions about Lyme disease,
it didn't... surprise me.
It made a lot of sense to me,
in a way that nothing...
nothing about Rasmussen's
or the history of it
makes any sense in my brain.
So...
[woman] So my daughter...
ended up having Lyme disease,
which was causing a lot of her symptoms.
If you could find
a Lyme-literate physician
to order those tests--
My daughter came back equivocal,
but once we started treating,
it came back positive.
So she's doing-- Your daughter's doing
much better now than she was a year ago,
-or--
-Yes. Yes. She's doing better,
but she still is very young for her age,
you know, but I'll take that over,
you know, not functioning.
I mean, she was bedbound,
in a wheelchair, for a long time.
I mean, she was really sick.
So you are your daughter's best advocate,
and doctors are human,
they don't know everything
but, you know, like they say,
a worried mom does better research
than the FBI.
I mean, I--
I mean, that's all I've done.
[Sara] I would love to hear
a little bit about why you wrote in
to the article.
Well, I lived it. [laughs]
We lived it. Bradley's actually even here.
-Would you like to see him?
-Sure.
This is Bradley.
You have to step back a little.
-Say hi.
-Hi.
Hi. Nice to meet you.
Nice to meet you.
-[Alicia] So, Bradley's 20.
-Uh-huh.
He grew up fine till he was three,
and then he started to have
staring spells.
Like, almost staring off into space.
And it wasn't until he had an MRI
that the MRI showed
the left side of the brain
was different
from the right side of the brain.
So then what we did was we went
to, I think, Columbia in the city.
We saw a doctor,
and he was the one who looked at me
and said,
"Oh, nothing we could do can help him.
The only thing that could--
The only thing to help your child
is to remove half his brain."
And, like, that's how he told it to me.
You know, things were
a lot different 17 years ago.
You know, I can only imagine
that they've mastered the surgery
even more so.
Listen, he has his challenges.
I'm not going to say everything is great,
but if you told me I would be
where I was today,
and that my son would be
a junior in college
and will have graduated and...
done what he's done, I would say
you're crazy and there was no way.
[laughing]
It's scary,
but we didn't have another option.
You know, the alternative was
watch him seize constantly,
and what kind of quality of life
was that?
I mean, that's how we saw it.
Okay.
[exhales]
[man] I read the story.
It seemed that your sweet daughter
has what looks in many ways to be
Rasmussen's encephalitis.
There are variations of Rasmussen's,
and Rasmussen's is something
that we don't understand everything about.
Well, what would be your opinion on, um,
a sort of stimulating device implanted?
That's the RNS device.
We have very little experience with that
in children
with hemispheric structural epilepsy.
But New York is the center
where a lot of that's been done,
and so those opinions
are probably available to you.
Mm-hmm.
In competent hands,
probably the only downside of that
is more time going by
where your daughter is seizing.
-[Dr. Sanders] So, Sara...
-Yes.
Tell me what appealed to you the most.
In my mind, option A is
finding out if there is
some type of pathogen or Lyme
that caused this
and that's still treatable.
Then the device implantation.
And then option C is
that it is, you know,
definitively Rasmussen's,
there's nothing else to be done,
and we have to go ahead
with the hemispherotomy.
And that's a lot more options
than we had two months ago.
We do the easiest thing first,
that's blood work,
to make sure that we're not
missing anything
'cause that's my biggest sort of issue,
-that I don't want to miss anything.
-Right.
[Dr. Sanders] A friend of Sara's saw
the article in The New York Times
and she recommended a doctor
who could test Sadie for Lyme disease.
-I'm Sara's mom, Joy.
-[doctor] Oh, hi.
-Nice to meet you.
-[Joy] Hi, nice to meet you.
[doctor]
Okay, so let's start with the lab results.
[Sara] Okay.
The standard testing for Lyme disease
involves measuring antibodies.
Now, the problem with antibody testing,
especially for Sadie,
is that Sadie's had
two different treatments
that might alter the results
of antibody tests.
Because of that problem with antibodies,
I arranged for blood to be tested
at ArminLabs in Germany,
and...
she was very strongly positive
for Lyme disease using
their T lymphocyte assay.
[laughs]
And so I spoke with Dr. Marcuse
about the results
and about antibiotic therapy.
Dr. Marcuse was agreeable
to the use of doxycycline,
so my recommendation
is that we start doxycycline.
We would do this for three weeks
and see how things go.
I'm curious to know
what we'll see in three weeks.
Well, the best-case scenario
is that there's a dramatic improvement
in the seizures
over the next three weeks.
Mom, can you--
I want to see your face right now.
[laughing]
[laughing]
Yeah, it was crazy.
But the number's supposed to be--
If it's above six, it's positive,
and her number was, like, 15.
Wow. That's so amazing.
-Yeah.
-That's so amazing.
It would make good--
for a good happy ending, for sure.
[Dr. Sanders]
Although Sadie tested positive for Lyme,
even after six weeks of antibiotics,
there was no improvement in her seizures.
Mom, another leg!
[Sara] She did get much worse.
She got really sick,
and she had seizures
that were really strong.
[Dr. Sanders] So Sara and Sadie
are gonna go meet
one of Dr. Laura Marcuse's colleagues,
who performs the kind of
electrical implant surgery
that was suggested by the crowd.
The presumed diagnosis, the hypothesis is
that Sadie has this condition called
Rasmussen's encephalitis.
I must tell you that I am very impressed
by how good this brain looks.
Looks like you've got a very high IQ,
like a smart, smart kid,
and I don't see any of the telltale signs
of this thing called Rasmussen's,
which are usually atrophy or shrinkage
of that side of the brain.
[Joy] It seems to me as if
you're saying that it is something else.
It's behaving the same way as Rasmussen's,
meaning that it's becoming
progressively worse
and it's impairing
Sadie's ability to move.
The way that it's not behaving
like Rasmussen's
is that it's coming on
sort of a little later
and it's not shrinking
that side of the brain.
It may be because it's too recent,
it hasn't been going long enough.
So...
that's a perfect-looking MRI,
but the biopsy showed
that there was encephalitis here.
Now we're getting somewhere
because now we say with inflammation,
with irritation,
the nerve cells themselves
are being affected,
and now your brain is irritated
and it causes seizures.
I would be less concerned
about naming the diagnosis
and focus very much on
protecting this sweet thing.
We know, as epilepsy doctors,
that we've got to take care
of the problem. We must stop it.
If Sadie's right hemisphere,
her right brain,
was shrunken and scarred
and not functioning,
I would say, "Yes, that's okay.
She can have a hemispherotomy."
But at age seven,
I would say absolutely no...
if you have a better option.
If you have a device
that acts like a pacemaker...
Scientists made one of these for the brain
and tested it for ten years
before saying that it's okay to use.
Here, there's this little tray
that fits in the skull
and the battery goes in there,
and this battery and computer are so smart
that it can read your brainwaves.
[Sadie] Oh, la-la!
-[Joy laughing]
-[Dr. Ghatan] And-- Exact--
That was my sentiment
when they introduced it to me.
I said exactly the same thing.
[Dr. Sanders] A neuropace is a way
to short-circuit seizures.
When this device senses
abnormal electrical activity beginning,
it tries to abort the seizure
before it even happens.
The hope is
that if you can stop the seizures,
then you'll stop the destruction
of the brain
and allow Sadie to have a normal life.
Our center has done the most kids
out of anybody in the world,
now up to 18.
I have seen this work so well
in young people,
as well as old people, that...
as this is an option now, I wouldn't go
the other way toward destruction.
[Dr. Ghatan] Okay.
-Thank you.
-[Dr. Ghatan] Thank you for coming.
You all right?
Was that a hug or a help with leg?
-Hug.
-Hug, okay.
[cards shuffling]
[Sadie] Uno!
-What?
-You looked!
No.
Did too.
[Jose, in Spanish]
Tomorrow is our daughter's surgery.
It's a huge step...
that we are going to be making.
[in Spanish] Red.
[Jose chuckling]
Good job.
[Jose, in Spanish] We don't know
if it's the best option,
but for now we believe...
it's the best we can do for her.
[in English] You okay?
I am!
Okay.
[in Spanish] Blue.
Really,
she's suffering a lot,
and not just her, the whole family.
And that's what we want
and why we are deciding to do the surgery.
So that she can go back to...
Hi, Papa.
...being herself.
[Sara] Sadie's generally a very happy kid,
even now.
But she's really nervous
about the surgery.
I'm hopeful that this will actually
change something for her.
Just go, like... [clears throat]
-Mmm.
-Okay. Try again.
[Sara]
She misses being herself and misses...
just being regular,
I think, is how she puts it.
[Sadie playing guitar]
♪ I miss ♪
♪ Riding scooters ♪
♪ I miss riding ♪
♪ Scooters ♪
♪ I like to play ♪
♪ Soccer with my ♪
♪ Dad ♪
[Dr. Ghatan]
How are you, young lady?
-[Sadie] Good.
-Are you feeling okay?
You're all set to go.
Not nervous, I hope.
I'm really nervous.
You're really nervous?
Do you know that this step,
compared to everything--
in comparison to everything else
you've been through...
it's that big of a step. It's tiny.
You're dreaming sweet dreams.
When you wake up,
you're gonna feel so much better.
Our plan today is to place the electrodes
in the areas of the leg motor cortex,
since many of her seizures involve
the movement of her foot
and the weakness of her leg.
And then other electrodes
that go to the hot spots
that we identified with our...
our stereo EEG monitoring.
At the same time, we place this computer,
it's the responsive neuro stimulator,
and through this single approach,
now we have a tool
that is both diagnostic and therapeutic.
[buzzing]
[Dr. Ghatan] Okay.
The first electrode to be placed
will be the inner hemispheric
leg motor electrode.
[man] Right about here's
where we can start.
-I'll just go back--
-[Dr. Ghatan] Excellent.
Let me see the template, please.
Yeah, that looks better.
Drill, please.
[drill whirring]
[Dr. Ghatan]
Please hold the tail of the electrode
and I will take it.
Perfection.
So here we've opened the dura...
to be able to place
the last three of the leads.
Okay, sir, let's see the...
RNS pulse generator.
Holy moly, Whac-A-Mole-y!
Okay, good.
Let it rip!
[Dr. Sanders]
Once the neuropace device is implanted,
it's programmed and then checked
to make sure that it's reading
the targeted areas of Sadie's brain.
[Dr. Marcuse] All right.
Electrode contact looks terrific.
There's quite a bit more spiking here,
but this is actually good for her,
but this is spiking like crazy.
I'm just gonna point.
[Dr. Ghatan]
Yeah. Look at those rhythmic spikes.
[Dr. Marcuse] So on that second chain...
-[Dr. Ghatan] Yeah.
-...it's a spike and a spike.
That leg area has really gigantic spikes
but actually, for her,
this is pretty good, and that's probably
'cause she's under anesthesia.
[Dr. Marcuse] The contact looks really,
really, really good.
[Dr. Ghatan] Excellent.
[monitor beeping]
[Dr. Ghatan]
Hey, everybody. Everything went perfectly.
Sadie G, everything went perfectly!
How are you, sweet girl?
How do you feel?
[Sadie] Tired.
[Dr. Ghatan] Tired. I would expect that.
Can you give my hand a squeeze?
-Nice work.
-[woman] Push against my hand.
-Thank you.
-[Dr. Ghatan] Good.
[woman] How about push against this hand?
Thank you, Sadie.
[Dr. Ghatan]
Everything went perfectly, guys.
Couldn't have been--
Couldn't have been better.
[woman] Sadie, does anything hurt you?
No.
Okay. That's excellent news.
[Dr. Ghatan]
We're gonna do one CAT scan today.
-[Sara] Okay.
-Just to show where all the electrodes are
and we'll take it from there.
See you soon. Thank you. Thank you.
Typically,
this takes a while to...
reach a therapeutic level.
You can just take a little rest.
[Dr. Ghatan]
I'm confident that within a few months,
we will have been able
to make a difference
in controlling Sadie's epilepsy.
Everybody's a little bit different,
but I'm confident
that we're gonna get there quickly.
[Sara] Ruby, come here.
We're going on the other side.
You got it, Sadie? Good job.
Okay.
I did it by myself.
I know. I'm so proud.
[Sara]
It's been a month since the surgery.
Sadie is doing really well.
She's still on a lot of medication.
But she just went back to school,
and I feel much more hopeful.
The doctors feel positive,
but we have to wait and see.
It takes months of using the device
to find out if it works.
[Sadie]
We have to find the computer chip.
[Sara] Okay.
[Sadie] I'm halfway done.
[Sara] Now it's smaller.
She's moving her eyebrows.
[Sara] She thinks it's cool
that she's, like, cyborg,
'cause she has a computer chip
in her brain.
I don't know how she's so strong.
Throughout all of this, she--
I just don't know how she handles it,
but she does.
-How have you been doing? You look good.
-Okay.
Should we look at your brainwaves?
Do you wanna to see them?
-Okay.
-All right.
So these are your brainwaves, my dear.
They're looking actually, for Sadie,
really pretty good,
and I'm gonna deliver the stimulation
that we're gonna program her at.
So basically every time
a seizure's happening,
she'll get a little bit of stimulation.
[Dr. Marcuse] Given everything
she's dealing with, Sadie looks fantastic.
[Dr. Marcuse]
The road ahead is always a mystery.
You know, in my career, I've only seen
one person with Rasmussen's encephalitis
have this device placed,
and they're doing very well.
Is this your right leg or your left leg?
-My right leg.
-I was gonna say that. I knew that.
[Dr. Marcuse] What I'm hoping for
is that over the next six months,
she really flourishes
and does extremely well.
That's what I really, really,
really want for her.
Let's do this one.
Nice.
-[Sara] She has this theory that...
-Oh, my goodness.
...her eyebrows are connected to her foot,
so if she raises her eyebrows...
-Wonderful.
-...then she can raise her--
-She can flex.
-That's really good.
That's better than I've seen
in a long time.
I don't understand the theory
but it seems to help her, so... [laughs]
[Dr. Marcuse]
This foot's doing great right now.
One of the things I thought
about Sadie from the beginning was, um,
there is that inflection point
with diseases
where new treatments come out
and things get better, and, um,
hemispherotomy doesn't feel like
a modern technique.
It's really kind of, like, barbaric.
It doesn't feel like something
we'll tell our grandchildren
and they'll be, like, "Yeah, we do it just
the same way that you did it in your day."
Like, no.
Bye, sweet girl.
[Dr. Marcuse] So we're hoping
that we're at that inflection point.
Come, come.
[Sara] Before this all started,
I felt very, very stuck and very trapped.
I feel so lucky that the crowd gave us
something to look into
that the doctors were ignoring.
Good job.
[Jose, in Spanish]
I honestly have no idea how...
since so many people who helped us...
how we'll ever be able to thank them all
for what they did for us.
[Dr. Sanders] I think what the crowd did
for Sara and Jose
is to give them a sense
that they had time
to explore other options.
For Sadie, that made
all the difference in the world.
Now it's time for me to move on
to my next patient...
a 44-year-old man with some
really mystifying symptoms.
Symptoms that have confused and baffled
dozens of doctors,
including the Mayo Clinic.
No one really knows what's wrong with him
'cause he's getting worse every day,
so really, he needs to be figured out
before it's too late.
[man] Come on, girls.
My name's Willie Reyes.
I am 46 years old.
I'm suffering from two lesions
on my brain.
I have lost maybe 40% of my memory.
We've been to the Mayo Clinic
15 times.
Had two brain biopsies, multiple MRIs,
but they still can't figure out
what they are.
[woman] Willie, at one point, said,
"Why don't you just leave me?
You and Serena would be better off
without having to deal with this."
[Willie] Now I'm hoping
somebody will see this
and maybe point me
in the good direction,
or I could go and find a diagnosis.