With This Rare Disorder, No Amount Of Sleep Is Enough

IRA FLATOW: This is Science Friday. I’m Ira Flatow. We humans need sufficient sleep to function, right? The common knowledge is that we need about eight hours each night to be at peak performance. But for some people, no amount of sleep can shake a profound feeling of sleepiness. Sleep can literally take over their lives.

Some with Idiopathic Hypersomnia, IH for short, can sometimes sleep for over 24 hours. Even stimulants, multiple alarm clocks can’t keep them awake. Some fall asleep while driving or doing other daily activities. IH is rare. Just a small fraction of 1% of people receive a diagnosis. And now scientists are doing more research into the condition thanks in large part to patients organizing and advocating for better treatment options.

But the underlying cause remains unknown. And unlocking what causes this excessive sleepiness may be key to understanding the bigger picture of how the body enters and wakes from sleep. Joining me now to talk more about it are my guests Dr. Quinn Eastman, science writer and author of The Woman Who Couldn’t Wake Up– Hypersomnia and the Science of Sleepiness– he’s based in Decatur, Georgia– and Diana Kimmel, co-founder of the Hypersomnia Alliance and board member of the Hypersomnia Foundation based in Atlanta, Georgia. Both of you, welcome to Science Friday.

DIANA KIMMEL: Thank you for having us.

QUINN EASTMAN: Thank you very much.

IRA FLATOW: You’re welcome. Diana, I want to start with the basics. Tell us about what is IH?

DIANA KIMMEL: Idiopathic hypersomnia is a neurological sleep disorder where no matter how much sleep you get, you still will wake up unrefreshed, exhausted, tired, and just in no way ready to face the day. And three hours can go by after waking up, and all you can think about is that next chance that you can take a nap or go back to sleep.

IRA FLATOW: It almost sounds like you’re addicted to sleep.

DIANA KIMMEL: Yeah. And it’s actually something I really dislike doing because it kind of rules my life. Idiopathic hypersomnia pretty much tells me what I can get done in a day, what tasks I can pick and choose from. It basically decides who I am that day.

IRA FLATOW: I think that for many of us, it might be a bit hard to imagine what it’s like to have sleep so profoundly impede our lives since all of us feel sleepy from time to time. Can you describe how it feels?

DIANA KIMMEL: I guess the best way I could explain it where most people might understand is think about the last time you maybe took Benadryl and how you want to do things. You have things planned for that day. But for whatever reason, you had to take this medicine that’s just going to make you tired, foggy. We call it brain fog, sleep inertia, sleep drunkenness.

Basically, you feel like you just woke up out of the deepest sleep ever, and you’re trying to function. And at the same time, you know all you need to do is sleep. There’s times I can best describe it as it hurts to be awake.

IRA FLATOW: Very interesting. I’m wondering, how did you come to receive an idiopathic hypersomnia diagnosis since it is so rare? Did you have to go from doctor to doctor?

DIANA KIMMEL: Oh, absolutely, doctor to doctor and year to year. It probably took me 10 years to really get to the point where somebody was listening.

IRA FLATOW: Really?

DIANA KIMMEL: Yeah, so it just started with, of course, everybody’s tired. Get more sleep. Maybe exercise more. Maybe you’re a little depressed. It’s years of just that because you go to any doctor and you say I’m tired, they’re going to go to what they have in their toolbox kind of thing. And idiopathic hypersomnia diagnosis is not in their toolbox. And it certainly wasn’t 15, 16 years ago.

IRA FLATOW: So how did you finally find a doctor who knew what it was?

DIANA KIMMEL: I kind of stumbled on one actually. I probably had spoken to 5 or 6 different doctors over the years. And I did fall asleep behind the wheel, ended up getting very extensive testing done. I was at Emory Medical Center in Atlanta, which just happened to be where some top researchers were, where they were researching and doing some trials for idiopathic hypersomnia. So we kind of in a very serendipity kind of way found each other.

IRA FLATOW: Very interesting. Dr. Eastman, have scientists been able to identify a specific chemical that causes sleepiness or perhaps a combination of them?

QUINN EASTMAN: Sleepiness is definitely more than one thing. When I first started doing research for this book, I was surprised that scientists don’t know– there’s not kind of one well-defined sleepiness molecule. There sort of is, but the researchers at Emory that Diana was talking about, they had thought that they found something else.

And they found it in the central nervous systems of people who had idiopathic hypersomnia. They were looking for it. And they never found it. So that is still kind of one of these cold cases that detectives will need to pick up the clues and finish the job.

IRA FLATOW: What’s the difference between fatigue and sleepiness? Folks may or not be familiar with chronic fatigue syndrome, also known as ME/CFS. How is idiopathic hypersomnia different from fatigue?

QUINN EASTMAN: One of the defining features of ME/CFS, what used to be called chronic fatigue syndrome, is sort of an exaggerated response to exercise. It’s called post-exertion malaise. This is people– they go out to rake the leaves, and then they can’t get out of bed for a week. But the difference is with people with idiopathic hypersomnia, they’re actually spending a lot of– some of them are actually spending a lot of time sleeping, and they will tend to go to sleep quickly. But lots of other people with ME/CFS, they have trouble sleeping.

IRA FLATOW: Right. Diana, when you were searching for medical attention, did people perhaps confuse what you had with narcolepsy where people fall asleep?

DIANA KIMMEL: As I started to get closer to realizing that this was something with my sleep, it was pretty clear because narcolepsy has a very clear marker. You have a lack of hypocretin. And you have narcolepsy 1. Narcolepsy 2, which you don’t have cataplexy and you don’t have a hypocretin issue, that’s a little bit more like idiopathic hypersomnia. So there’s some cross over and some confusion there.

QUINN EASTMAN: So narcolepsy and idiopathic hypersomnia are historically closely related and diagnostically closely related. But there’s now kind of an effort by sleep specialists to reorganize things. And there are some people with narcolepsy have something very– they have a very specific neurochemical issue. And that is that there’s this one chemical produced in part of the brain, and they don’t make it. And they also display this very distinctive symptom where if they start to laugh or if they try to tell a joke and they experience muscle weakness, and that is the cataplexy that Diana was referring–

IRA FLATOW: Uh-huh. Now I understand that.

QUINN EASTMAN: But a lot of other people who have a narcolepsy diagnosis don’t experience cataplexy. So all the scientists are starting to get together and say, well, actually, the people who don’t have cataplexy with a narcolepsy diagnosis and those with IH, they actually have a lot more in common. So let’s put them together and then group the people who have this more distinctive symptom separately.

IRA FLATOW: Your book traces the story of a young lawyer named Anna who could sleep for 30 to 50 hours straight. Can you tell me more about her case and how it shaped scientists’ understanding of hypersomnia?

QUINN EASTMAN: So this was a story that I was following while I was working at Emory. So she was a young lawyer in Atlanta who had been dealing with this excessive need for sleep through high school and college, but it got stronger. And it became too difficult to manage. And she was actually diagnosed quite quickly. She was exceptional in that she didn’t get told that she had something else first.

So her doctor prescribed these stimulants, which a lot of people take. They work for a while. But she became tolerant, and she experienced these alarming crashes where she would have to be asleep for more than 24 hours. The excessive need for sleep was still there.

So, finally, in desperation, her doctors wean her off what she was on, and they try this drug that was not usually used for sleep disorders. It’s a countermeasure for people who have taken sedatives. And this drug, which is called flumazenil, worked really well. Anna said, I’m paraphrasing, my eyes were open. For the last few years, they were half closed.

So there was this idea that, OK, flumazenil works against other drugs, benzodiazepines, which are like Valium or Xanax. The scientists said, OK, there’s something in her body that is working like this. But it’s made of different stuff. So they tried to look for it that way. And that’s the part where they still haven’t found what that is.

IRA FLATOW: Does that drug work on people? Is it an accepted treatment now?

QUINN EASTMAN: So through the events described in my book, flumazenil is now available to people kind of in a halfway setting. It’s that if you can get a doctor to prescribe it, then you can go to a compounding pharmacy and get it. It’s kind of awkward. It’s not a pill. You have to take it as a lozenge under your tongue or as a skin cream that you rub on your arms.

But there are some people who swear by it. It doesn’t work for everybody with IH. But it is an option that is available.

IRA FLATOW: Is there some sort of genetic component here? Does it run in families?

DIANA KIMMEL: I’ve come across a lot of other people that have had family connections. And I myself have a family connection. My daughter is actually diagnosed as well. But nobody has found a genetic marker yet.

QUINN EASTMAN: Two years ago, there was actually a paper from researchers in Japan. And they found the first potential genetic connection to idiopathic hypersomnia. And this is something I would like to push researchers in the field to look for this some more. There’s some people in France looking at this too.

IRA FLATOW: That’s interesting. Diana, I know you run a support group for people with hypersomnia. Tell me how you started that and how well it’s going.

DIANA KIMMEL: Basically, I started the support group out of necessity. I needed support. And although I had family members and loved ones that supported me the best they could, I very quickly realized that when I was in the presence of somebody else that had this diagnosis, it was a different type of support. They really understood how I was feeling, what I was doing and why I was doing it. It was just like I literally met my best friend that I’ve known forever. And I knew that that feeling and that support was something that other people needed.

So I basically just started small. Once every other month everybody wants to meet in this place and you can make it, let’s do that. At the same time, the Hypersomnia Foundation was being formed.

And I was able to go to conferences and meet other people with this, which is a great way for people to really come in and find their village, find their people and get that support. And once you have those connections, they really stick with you. You can reach out to each other. So it’s very successful.

IRA FLATOW: Yeah. How do you measure the success of it?

DIANA KIMMEL: The support group, that first time somebody says thank you, I feel heard, I feel validated, I don’t feel alone, and the first time a supporter says, wow, now I understand. This just isn’t what my loved one does because they don’t want to do stuff. When you start hearing things like that, it changes it. You want to do it more. You want to come together more. I look forward every year to the foundation’s conference in June because that’s where I can really meet people from all over.

IRA FLATOW: I know that next month you’re meeting with the FDA through the patient-focused drug development program. Tell me a bit about that process and what it means to you and other IH patients to have this opportunity to speak directly to the FDA.

DIANA KIMMEL: I can tell you that when I started with the first couple of meetings about what this was going to be like and the things that we were going to be able to communicate, I think I actually teared up. Because when I say that you don’t have validity, when people don’t understand what idiopathic hypersomnia is, when you have a medicine like flumazenil but you can’t get your insurance company to even consider paying for it when somebody with narcolepsy 2, which is very similar to what I’m experiencing, can have their stimulants, their medicines covered through insurance because they have a narcolepsy diagnosis but I can’t get the same medicines covered because I have idiopathic hypersomnia, that is going to be life changing for many of us to finally have the FDA hear that struggle.

Not only do we have this, not only is it affecting our lives, but I can’t even get the same level of care. I can’t take part in clinical trials that somebody with N2 has. But, again, we’re very similar.

Insurance coverage, more doctors being familiar with this, it really is going to be I think pivotal for our community to really be heard, to be seen, and to be able to move forward because we don’t want this. We want to find a cure. We want to find what’s causing it. We want access to medicines.

IRA FLATOW: So you sound very hopeful. That’s good.

DIANA KIMMEL: I am. I mean, I think that since my diagnosis in 2011, I can say I wish we were further along. But I can’t believe how far we’ve come. And this does give me a lot of hope. So I am very thankful that this is going forward and this opportunity is here for our community.

IRA FLATOW: Well, I hope that our talk today will help move things along for you.

DIANA KIMMEL: And I appreciate that. Thank you so much.

IRA FLATOW: You’re welcome. Wishing good luck to both of you, and hope to hear from you with some good news. Dr. Quinn Eastman, science writer and author of The Woman Who Couldn’t Wake Up– Hypersomnia and the Science of Sleepiness. He’s based in Decatur, Georgia, and Diana Kimmel, co-founder of the Hypersomnia Alliance and board member of the Hypersomnia Foundation based in Atlanta, Georgia.

Before we go, I want to take a moment to remember microbial ecologist Dr. Craig Cary who passed away suddenly last week. He was known for his work studying life in the harshest environments, including deep sea thermal vents and antarctic landscapes. He was a frequent guest on the show. And here is a great clip of him speaking to us live from the Alvin submersible at the bottom of the ocean in 2001.

CRAIG CARY: Right now, we’re sitting on the bottom in front of a large smoker. This is one of these large chimneys. The chimney is about 15 to 20 feet high. The top temperature coming out the top of the chimney is about 365 degrees Celsius. And it’s billowing this black smoke that comes pouring out the top, often and sort of obstructing our view.

IRA FLATOW: Condolences to his friends, family, and colleagues.

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