[Music]
Victoria Kirby King: If I can get through the day,
I can take my daughter to the park here.
And then I can sneak away to my favorite part of the park,
which is where the water is and,
you know, just kind of retool from the day and recenter on my family.
I was diagnosed with idiopathic hypersomnia, when I was 19 years old.
It was a Spanish teacher at Howard University
my first semester in school
who noticed that I was falling asleep in class.
There was no one who said,
“Oh, you're in your late teens, early 20s,
you need to start looking out for neurological disorders.”
Narrator: We all experience spurts of more or less sleep.
Many of us, after missing a lot of rest and feeling exhausted,
will sleep for well more than the recommended 7 or 8 hours.
After that, we feel more wakeful
and ready to go about our lives.
For people with idiopathic hypersomnia, or IH, that’s not the case.
Someone diagnosed with idiopathic hypersomnia
sleeps for long periods of time—
say, 11 hours within a 24-hour period—
but never wakes up feeling refreshed.
Victoria Kirby King: I don’t remember what a good night’s sleep even feels like.
Because people think they know what it feels like to dream,
or be really tired,
people think they understand what we deal with.
But they really have no clue.
Emmanuel Mignot: What’s very frustrating for these patients is
we give them this diagnosis that has no meaning.
We know narcolepsy with cataplexy, which has a very clear cause--
you know, it's a deficit in orexin, and so forth.
But for all these other problems,
idiopathic hypersomnia, insomnia, we know it's complicated.
It's not a single cause.
A number of years ago,
several of my colleagues came up with a hypothesis
that potentially idiopathic hypersomnia was being caused
by an endogenous substance that was turning on
the activity of GABA-A receptors.
If you produce something that activates those receptors
it could potentially be sedating.
It might cause the sleepiness of idiopathic hypersomnia.
And there's a little bit of experimental evidence suggesting that
idiopathic hypersomnia may have a circadian component to it as well.
People with idiopathic hypersomnia often have a lot of difficulty
waking up in the mornings.
they may be trying to wake up at a time that their circadian rhythm
is telling their brain is still nighttime.
Victoria Kirby King: What's hard for work is
I'll have a like, dreamlike experience where I've
woken up, I've brushed my teeth,
I've had a shower, I've had breakfast,
put clothes on, gotten ready for work.
And then I wake up and realize I've been asleep the whole time.
And then now I'm running late,
'cause you know, I thought I was awake.
But it was all a hallucination-like dream.
Chiara Cirelli: If you don't sleep well, everything seems difficult to achieve.
A typical issue is the ability in
everyday life to integrate a lot of information.
Narrator: As we go about our daily lives,
we receive a lot of information about our environments—
maybe a new detour on the road to work or a story in the news.
That information causes our synapses—
the sites where two nerve cells meet—
to grow and exhibit learning.
In mice, Cirelli showed that daily activities
made their synapses grow and add receptors to the point
that the synapses were saturated.
Resftul sleep reduced the size and strength of the synapses,
so that they were primed for more learning after waking up.
Without that rest, the synapses remained saturated,
and learning was more difficult.
Now we think that really the reason
why the brain needs to be disconnected is indeed because
sleep does synaptic homeostasis.
Sleep allows the weight, the strength of synapses in the brain,
to be renormalized.
You end up at the end of the day, having learned many things
But the price for this learning in cellular,
in synaptic levels, is this increase in the strength—
which is good again, because it's a sign of learning—
but in the long run, is actually not sustainable.
Emmanuel Mignot: One of the big questions about sleep
is it's regulated by two things.
One is what's called a sleep homeostat.
It's basically how much sleep debt—sleep need—you have.
But the second thing that also regulates sleep,
independently of the sleep debt, is circadian rhythm.
Right now, the only way to measure circadian rhythm
is to keep people in a dark room, or at least constant dim light,
and measure melatonin. And it's very time consuming.
And it's not very precise.
Now, I'm very excited because I'm developing some new technology.
Where I'm measuring some proteins--1000s of proteins, 7500--
And with these proteins, we can actually predict
the circadian rhythm and the sleep debt of patients.
So, I think it will really lead
to a complete redefinition of the diagnosis of people
who have idiopathic hypersomnia or insomnia.
Narrator: In the next two to five years,
researchers believe such a technique could become a reality
in diagnosing sleep disorders.
In August, the FDA approved the first treatment for IH,
a drug that was already approved to treat sleepiness
and sudden loss of muscle tone in people with narcolepsy.
Pinpointing the biological causes, diagnoses, and treatments of
poorly understood sleep disorders
could provide hope for those with mysterious cases.
Victoria Kirby King: Having the diagnosis allows you some options,
and the more options that are created that include rare disorders,
like IH, the more options people can have to live fuller lives.
My daughter loves to climb this tree, but she’s four,
so she has to have a lot of support.
And the last time we were here, I started to have a spell, I was getting really tired.
And she really wanted to sit up there.
I couldn’t risk it.
There are moments like that where you let people down,
but you know you’re doing the right thing.
[Music]