[MUSIC PLAYING]
The three-month span where Thomas
saw about 20 different doctors-- we
had an ER doctor for hours trying to figure out
what was going on.
I said, do you think it's narcolepsy?
And they said, absolutely not.
They thought maybe he had depression at one point.
And with Liza, I think it started in the winter,
and she was diagnosed in the summer.
But at the beginning, I'd pick her up from camp,
she'd go to sleep in the car.
She'd sleep for 12 hours in a row.
And she could get up the next day and sleep another six.
So by the time that you couldn't deny
that it was a growth spurt.
Obviously it wasn't a growth spurt.
So we went in and she did--
It just didn't seem normal to be sleeping all the time
and to only want to sleep.
So, they would ask me what my sleep schedule was like.
And I would just say I'm sleeping all the time.
Hi there.
Hi, Dr. Maski.
Hi.
Nice to meet you.
Hi there.
Is it Liza?
Yeah, I'm Liza.
So, I just finished my visit with 15-year-old Liza.
It's not uncommon to hear about teenagers
with insufficient sleep.
And certainly sleepiness is a very common symptom
that we're hearing from adolescents.
The misdiagnosis or impartial treatment
of some aspect of narcolepsy makes
it more difficult to diagnose.
Have you ever fallen asleep while you're actively
doing something?
Yeah.
Some ballet classes, I'll be doing my plies,
and I'll just be like, ah, just so tired.
And my eyes will droop over.
Most strikingly, it wasn't just sleepiness in boring classes
or in car rides-- relatively mundane things-- she
was actually falling asleep during her activities.
Sometimes I think I'm walking down a road.
And sometimes I'll think I see different lights
in places, which is weird.
Typically, visual hallucinations that
occur during the time of sleep onset or offset
can be very vivid-- to the point where patients often report not
really knowing if it's something real or not real.
Ever have something called sleep paralysis?
This is a symptom where you wake up-- your brain is awake--
but your body seems to be still asleep.
I don't think I've ever really had that.
Doctors are definitely curious to see
what your sleeping pattern is like--
if you're really not getting good sleep at night
and you are falling asleep in all of your classes at school,
and if it's affecting your life to the degree
that you really can't function.
After I took a full history of her symptoms,
tried to understand if there was any onset of head trauma
or illness or immunization that may have brought
on her symptoms, basically to see if there
was any headaches, visual disturbances, or changes
in personality.
She's a very bubbly girl.
But any concerns of mood changes or increased weight gain
or weight loss with Liza?
No.
No changes in her weight.
But I do see tearfulness at times.
Mm-hm.
OK.
Yeah, I can understand that.
Because it can be sad.
I'm just asleep.
Mm-hm.
Yeah.
And she missed a lot of things.
It's also been hard missing out on family activities
and hanging out with my sisters.
And it's definitely put a separation between me
and my sisters a little bit.
Liza's a very unique individual.
She's really upbeat, high energy.
And her symptoms of sleepiness are out
of character with her personality
and her level of outgoingness.
So it's a really striking difference in her case.
She did start to have symptoms of cataplexy--
an intrusion of REM sleep in wakeful periods triggered
by strong emotion, such as laughter, annoyance,
anger, being emotionally upset.
It would happen almost every time I laughed.
I would just fall over.
It was pretty scary, honestly, because I just
lost complete control.
I could hear everything that's going on around me,
but I couldn't talk or communicate with people
if they were confused.
One of the conditions I have to evaluate for
is called narcolepsy.
It's a lifelong chronic disease.
The hallmark symptom is excess daytime sleepiness
all the time.
Probably most critical is to do an overnight sleep study, as
well as a multiple sleep latency test--
a test that's trying to quantify the amount
of daytime sleepiness a person has.
And that really is the gold standard
in terms of diagnosing someone with narcolepsy.
We'll be using an EEG.
So these are sticky leads on her head
that are looking at her brain wave activity that tells us
what sleep states she's in.
In the morning, we'll be looking over
a course of five nap periods from 9:00 AM to 6:00 PM-- how
quickly you fall asleep.
What we're looking for is whether there's any REM periods
during those naps.
And if there's two REM periods within the five naps,
that's consistent with the diagnosis of narcolepsy.
I was totally doubting that I'd be able to fall asleep,
but then once I got into bed, I was out like a light bulb.
She certainly seems to have all the components
necessary to make the diagnosis of narcolepsy--
the excessive daytime sleepiness,
the hypnopompic, hypnagogic hallucinations.
She has very vivid dreams.
She has very fragmented sleep.
Plus the presence of two REM periods during daytime naps.
So we're confident in our diagnosis.
She does have narcolepsy with cataplexy.
If a patient feels that their symptoms are not
explained sufficiently by lack of sleep
or any other sort of underlying disorder,
I think that it would be important
for them to be seen by a sleep specialist.
Getting diagnosed made me so much more relieved,
because I knew, OK, thank god there's something
that's literally wrong in my brain,
that there's something off, because I thought there was
something just wrong with me.
But it's scientific.
So, it was helpful.