MUSIC PLAYING:
JOHN WHYTE: Welcome, everyone.
I'm Dr. John Whyte, Chief
Medical Officer at WebMD.
Narcolepsy is a chronic sleep
condition that impacts hundreds
of thousands of people
here in the United States.
It can significantly impact
their quality of life
and impact their day to day
functioning.
So today, I want to talk
about the signs and symptoms
of narcolepsy.
What's the diagnostic criteria?
What are the current treatments?
And what may be on the horizon?
And to help me
do that, I've called upon
to experts.
Dr. Luis Ortiz, he's a sleep
expert, an internist,
a pediatrician, a pulmonologist
at Johns Hopkins.
And Dr. Lois Krahn, she's also
a sleep expert and a professor
of psychiatry at Mayo.
Thanks for joining me.
LUIS ORTIZ: Thank you for having
us.
LOIS KRAHN: Thank you.
JOHN WHYTE: Dr. Krahn,
let's start off and remind
people--
what do we mean by narcolepsy?
What are the signs and symptoms?
LOIS KRAHN: Narcolepsy is
a disorder where patients have
excessive daytime sleepiness
often associated
with poor nighttime sleep,
episodes of weakness,
and vivid dreams.
And it's a lifelong condition
once it develops.
JOHN WHYTE: And Dr. Ortiz, what
about people that are listening,
saying, I'm sleepy.
Maybe I have narcolepsy.
Or I have sleep apnea.
Is that the same thing?
Help us understand
those differences.
LUIS ORTIZ: So narcolepsy
is more than just being sleepy.
A person with narcolepsy who
gets an adequate amount of sleep
every night, they may wake up
refreshed.
They may feel great.
And they may be feeling
ready to take on the day.
But a few hours later, they feel
as if they hadn't slept
in a day.
And they desperately need
that sleep before they can
function again.
They may take that nap.
They may wake up 20 minutes
later.
They may wake up 40 minutes
later.
When they wake up, they usually
feel good.
They usually feel refreshed.
Only for a certain time later,
they feel that same feeling
as if they hadn't slept in a day
returns.
And they have to drop everything
to sleep again.
JOHN WHYTE: And it's a condition
that can occur in children
and adults.
How do we recognize it
in children?
LUIS ORTIZ: And it's very
difficult to recognize it
in children.
And that what is usually what
leads to such a long delay
in diagnosis.
On average, it takes about 10
years from onset of symptoms
to actual diagnosis.
In children, one sign could be
return of napping.
So typically in the United
States, children stop taking
naps at around age five.
And when you see it in children,
the parent may say, well,
my child had stopped napping
at age five.
He's now nine or 10 years old.
He's starting to nap again.
JOHN WHYTE: So why is it taking
10 years for the average person
to be diagnosed?
LOIS KRAHN: There
is a fundamental problem in that
if someone has sleepiness,
the first assumption is
that they aren't going to bed
on time and are burning
the candle at both ends.
And unfortunately, that is what
is assumed rather
than the possibility
of a medical disorder
like narcolepsy.
And that has been a very hard
hurdle to overcome.
JOHN WHYTE: Do we see
epidemiologic differences
around the world?
LUIS ORTIZ: So yeah, actually,
there is a very-- so
in the United States,
it's estimated to be one
in 2000.
There seems to be a higher--
it's more frequent at least
in Japan where it was estimated
to be like one in 500,
whereas in the Middle East,
it seems to be rarer.
However, if you're looking at
just the United States or North
America,
it affects the second decade
of life and then at the end
of the third decade of life.
And then but ages, genders,
and races-- it doesn't seem
to have a preference.
LOIS KRAHN: And I'll just say,
because this is chronic disease,
there are people who are
in their 80s and 90s who have
lived with narcolepsy since they
were teenagers.
LUIS ORTIZ: Yeah, and they lived
their whole lives,
and they never know.
And some of them
are more fortunate.
They have really good support
systems, and they're
able to overcome it
without medications.
They're able to find a job that
can support their need
for napping, whereas others,
they live their whole lives
thinking that they were failures
because they can't keep a job.
They can't raise their family
well.
And that's what we want
to prevent.
That's really what the end goal
of treatment of narcolepsy.
You can still feel sleepy.
You may still feel like you wish
you can be more awake.
By the end of the day,
we want people to be able to say
that they're able to live
a life that they're happy with.
And if a patient says
that they're not there yet,
that means we still have more
work to do.
JOHN WHYTE: Walk us
through the diagnosis
of narcolepsy.
Someone is watching the show
and thinking maybe they have it.
Maybe a member of their family
does.
What are the diagnostic tests
that should be done?
LUIS ORTIZ: So after being
evaluated by a sleep physician,
the patient would typically
undergo two weeks
of actigraphy monitoring.
It's a device that tracks
movement of the arm.
And so, as you can expect when
you're awake, there'll be more
movement than compared to when
you're asleep.
That way, we can correlate that
to wake and sleep.
So this way, we can actually
correlate if they're actually
getting sufficient amount
of sleep
at night and through the week.
The next portion
of the evaluation
involves
an overnight polysomnogram.
A polysomnogram, sometimes
called a sleep test,
measures different aspects
of physociology, brainwave
activity, heart rate,
respiratory rate, airflow going
in and out of the nose
and mouth, oxygen levels, carbon
dioxide levels in children,
and physical movement
during sleep.
And we also video it
at the same time.
This has been
the standard method
of evaluation
for narcolepsy
for several years.
However, recently,
a commercial lab has been
developed for evaluation of type
1 narcolepsy
in that we can perform
a cerebral spinal fluid analysis
for hypocretin.
Hypocretin is a neural hormone
that is deficient in people
with narcolepsy.
JOHN WHYTE: So there's type 1.
Is there also a type 2?
Type 1 narcolepsy is also known
as narcolepsy with cataplexy.
However, the actual etiology
and way of diagnosing it
is a deficiency of hypocretin.
And so, below two
standard deviations of what
is expected of normal,
you have type 1 narcolepsy
regardless if you ever
manifested symptoms
of cataplexy.
Type 2 narcolepsy is otherwise
known as narcolepsy
without cataplexy.
So if you were to do
a spinal fluid analysis
of their hypocretin levels,
they may have normal or maybe
low normal levels but they don't
have a very severely low levels
of hypocretin.
And they don't have cataplexy
as well.
JOHN WHYTE: Dr. Krahn,
is hypocretin the cause
of narcolepsy?
Do we know enough?
We know that hypocretin levels
are decreased in patients
with narcolepsy cataplexy.
Whether that's the cause or just
an indicator of the disease
is unknown.
However, hypocretin plays
an important role.
And it's been an area
of research that's ongoing.
Can you help our audience
understand what we mean
by cataplexy
and how that's often a symptom
associated with narcolepsy?
LOIS KRAHN: So cataplexy
is abrupt muscle weakness
triggered by an emotion.
I'll give an example.
Someone is very excited.
They're running in a race.
They're about to win.
And the feeling causes them
to become awkward.
They can't move their legs
in the way they would before.
And instead of running,
they stumble.
JOHN WHYTE: Do we know
the triggers for cataplexy?
LOIS KRAHN: So they tend to be
strong emotions, interestingly,
more commonly, positive emotions
like laughter, humor.
But sometimes, it can be
surprise, fear, and anger.
And a person gets upset or has
the strong emotion, and then
very abruptly cannot control all
of their muscles.
JOHN WHYTE: Dr. Ortiz, what are
the current treatment options?
LUIS ORTIZ: So there are
a wide variety
of different treatment options.
However, they are categorically
mostly in the stimulant class
of medications.
We have the very older
medications such as amphetamines
and methylphenidate.
But we also have newer
medications that target
the dopamine and norepinephrine
systems of the brain to activate
the circuits in the brain that
promote wakefulness.
We also have
oxybate medications,
oxybate products, that
do the inverse.
They actually stimulate gaba
systems that actually promote
sleep.
The thought process
with this medication
is that it can potentially
correct the sleep aberrations
that we see in people
with narcolepsy.
And then, during the daytime,
it kind of improves the activity
of the wakefulness systems
in the brain during the day.
And most recently, there's
been research into using orexin
or hypocretin agonists as a way
of replacing what was lost
in narcolepsy.
JOHN WHYTE: And how effective
are these current treatments?
LUIS ORTIZ: So it varies
from person to person,
unfortunately.
Some patients may do absolutely
fine with amphetamines
or methylphenidate.
And their functionality
is perfect for them.
Other people, the only thing
they get is side effects.
And they need to go on to some
of the newer medications.
And a lot of it
is, when working with patients
with narcolepsy,
it's a matter of trying
to balance the effectiveness
with side effects.
JOHN WHYTE: Dr. Krahn, what
about the role of lifestyle?
You do diet, exercise.
Lifestyle, does that have a role
in the treatment of narcolepsy
either as a primary treatment
or as an adjunct?
What's the latest on it?
LOIS KRAHN: So lifestyle
is important.
It's rarely enough by itself.
And the key thing
is that patients need to make
getting enough sleep
a high priority.
Narcolepsy patients sometimes
struggle to stay asleep
at night.
Sometimes medications can be
used to help them sleep better.
They have to make sure
that they have created
the opportunity to get to bed,
to stay in bed.
Also, exercise has been proven
to be helpful in combination
with medications.
There are some reports
of dietary manipulations,
but that likely is not
as powerful as getting
enough sleep
and using exercise
strategically.
JOHN WHYTE: So how do we make
sleep a priority?
Sleep always seems to be
the last thing that people pay
attention to.
I'll do it later.
Can we catch up on the weekends?
Why aren't we having a priority
on sleep?
LOIS KRAHN: So I would offer
that many people don't
understand the value of sleep.
I think we have to appreciate
that the brain is
active during sleep.
There's a rinsing process that
allows us to wake up and feel
refreshed.
And if we shortchange ourselves
on sleep,
we're going to shortchange
our brain in going
through that cycle.
And it's not surprising
that when people wake up
in the morning,
they can feel pretty dreadful.
And that can persist
during the entire day
as they struggle.
JOHN WHYTE: Dr. Ortiz, we always
like to talk about the latest
research.
What might be on the horizon?
Do you see more effective
therapies coming on board soon,
or a wider range of therapies?
LUIS ORTIZ: Last year, there was
already two new products
specifically to treat narcolepsy
released and many
more on the horizon.
Specifically, there's
some nighttime medication,
oxybate products.
Typically, these are medications
that have high sodium content,
which is a limiting factor
for certain patients.
But there's already been,
this year, released a low sodium
oxybate product that can be
taken by people
with hypertension.
So those are some that's
in the near future.
In a little, not so near future,
but still coming up pretty soon
are the orexin agonist that
basically will stimulate
the receptors that are tied
to orexin, which is what
is assumed to be missing
in narcolepsy.
And so the thought is that you
give the patient this product,
and it's going to significantly
improve their sleepiness.
As the landscape expands,
the idea is that there will be
something for everyone
with narcolepsy
so that they can live
effective lives.
JOHN WHYTE: Well, we know
that narcolepsy impacts people's
quality of life.
We know that it's undiagnosed.
We know we have
effective therapies and more
therapies coming on the horizon.
What do you both want to leave
our listeners with?
LUIS ORTIZ: So with evaluation
and good treatment,
it is possible to live
a full and productive life.
I myself have type 1 narcolepsy.
It was a struggle.
It was a struggle finding what
worked best for me.
It was definitely a struggle
to go through medical school.
But working with your physician
and being able to achieve
a good balance of lifestyle
and medications, you can achieve
what you want in life.
LOIS KRAHN: Well, I would just
like to focus
on excessive sleepiness.
If someone is sleepy all
the time, think about it.
It may be a medical disorder.
And that is a sign to go get
evaluated.
That's the single symptom
that all patients
with narcolepsy as well as
people with other sleep
disorders have.
And that's not normal.
JOHN WHYTE: Dr. Ortiz, where can
listeners go to get more
information
and support about narcolepsy?
LUIS ORTIZ: Narcolepsy Network
is the largest patient advocacy
organization for people
with narcolepsy.
We provide support groups,
education, and resources for,
not only for people
with narcolepsy,
but their support network
and also physicians.
We do a lot of online support
groups
so that people with narcolepsy
can meet other people
with narcolepsy.
A lot of times, someone
with narcolepsy, they're
the only one they know that has
narcolepsy.
And so it's the most validating
feeling in the world
to be able to tell your story
to someone, and someone else
says, "I know.
I do the exact same thing.
That's happened to me, too."
And there's so many of us
out there that just connecting
can make a big difference.
JOHN WHYTE: Well, I want
to thank you both for taking
time to share your insights
about narcolepsy
and how we can get people
diagnosed and treated.
Thanks for taking the time
today.
LUIS ORTIZ: Thanks for having
me.
LOIS KRAHN: Thank you.