Beyond Sleepiness: Real-Life Red Flags and Recognition of Narcolepsy

[00:00:00]The fun fact about narcolepsy is it could start in pretty early ages. We have kids with narcolepsy who are 7 8 9 10 years old and they have narcolepsy and most people get it in their second decade of life. So when they're young teenagers or in early college, this young man I saw all his life, he felt abused and neglected because of his excessive sleepiness cuz it was just always chocked up to being lazy and not motivated to do anything. A lot of times these conditions they get missed because I'm just thinking, "Oh, you must be lazy or you don't want to do anything or blame mental illness." But I may be depressed cuz hey, I'm super tired and sleepy all the time. But generally, if you're seeing a clinician who's thorough in their evaluation, they'll try to uncover that for you if you're getting assessed for narcolepsy.

[00:01:04][music] Welcome back to the Hidden Sleep Disorder Show. And in earlier episodes, we talked about narcopsy as one of the most misunderstood sleep disorders, and we work through some of the myths that surround it. But today, we're taking a bit of a different approach. This episode is about recognition. So, if you're listening because something about your own sleep or the sleep of someone you love has never quite added up, this conversation is built for you. And narcolepsy is often diagnosed 8 to 10 years after symptoms first start to appear. But that delay is not because the disorder is rare. It's because the warning signs are easy to miss, easy to explain away, and easy to mistake for something else entirely. So today, we're going to walk through those warning signs and what they actually look like in real life, how they show up differently from person to person, and at what point the pattern of symptoms should send someone to a sleep specialist instead of another round of guesswork. So Dr. Sani, let's get into it. I'm excited for this episode and it's great to see you again as always.

[00:02:12]How are you? How you doing today?

[00:02:13]>> I'm doing great, Leila. This is very timely topic and and I agree with you.

[00:02:19]So, let's dive in. Excited to be here.

[00:02:22]>> Absolutely. Yeah, let's dive in because I know we've talked about this too sometimes. I I think I have some of these symptoms. So, I'm excited to learn a little bit more. And before we get into individual symptoms, it helps to understand the bigger picture of what narcolepsy actually does to the sleep wake cycle. So in the most simple terms, what is something that's happening in the brain of someone with narcopsy and why does that produce such a wide range of symptoms?

[00:02:49]>> So that that's great question. Let me start by a real patient story and this is a person I just saw yesterday or day before I believe. and she came to me after suffering from excessive daytime sleepiness for a while. She's currently in her 40s now. And we were going over her test results for the NAP study test results. And I was explaining, hey, why you know what the numbers mean and and all that. And she's like, you know what?

[00:03:24]I did something similar. went to a sleep clinic almost 20 years ago when I was 20 25 and she's like hey I used to work as as a third shift worker but was extremely sleepy they never did any study for me but they did put me on some medications to help me stay alert and awake but then life happened. She kept going, you know, off and on therapy.

[00:03:53]Sometimes insurance denied it or, you know, she ran out of insurance coverage.

[00:03:59]And here we are. She's in her mid4s and this is the first time someone is trying explaining her what the diagnosis is, what does that mean, and what to expect.

[00:04:12]So sometimes even if you've taken steps to figure out what's going on with me, people don't really know what sort of therapies we have available. People don't really know what sort of testing we have available and what to even expect. And you know, she took some firstline medications which helped some, but didn't really tackle all the symptoms, but she didn't really know what to expect. So I'm hoping you know we we sort of through our hidden sleep disorders podcast uncover some of that so that all our listeners feel empowered. So now I'll take on your question based off of that. So some of the symptoms this person mentioned and and also I see very commonly in narcolepsy patients is not just that I am excessively sleepy which is the main symptom. No doubt about it. You know, if you're not sleepy, then it's hard to have narcolepsy as a diagnosis. So, yes, these patients are extremely sleepy, but a lot of times sleepiness can be tricky.

[00:05:21]Sometimes they just feel extremely tired and fatigued. And so, without testing, it's sometimes hard to differentiate between those two. And one common question I ask my patients is like, hey, are you sleepy or are you tired or both?

[00:05:35]So the that allows them to sort of you know take a step back think harder and figure out okay what am I calling tiredness or fatigue because in our society no one really wants to admit they are sleepy everyone wants to say I'm tired or I'm fatigued you know so sometimes that becomes pretty challenging to tell apart the other common symptoms are that my sleep does not feel restful so even though I'm a very sleepy person and I could sleep on a drop of a hat. But my nighttime struggles are real. So I want our listeners to I want to affirm that it's not just in your head. It's real that your sleep quality at night is poor. You don't feel wake up rested and basically sleep is not functioning the role that it should be playing in recovering. So that's not happening. Outside of those one major very specific symptom is we call it catyplexi. And I'll go in a little bit detail as to what does catyplexi even mean. Catyplexi is basically weakness in your muscle groups in response to some sort of emotion. So that's really in nutshell what cataplex is. Now this could be any muscle group.

[00:06:59]It could be my facial muscles. It could be my just my eyelids. It could be my thighs. It could be my arms, legs. So, it could impact any muscle group. But it's generally they're feeling weak or they're getting weak. For example, emotions like laughter. I'm looking at my phone. I'm watching Tik Tok and all of a sudden I feel weak. or I'm with friends standing uh in a bar or or outside and I'm laughing out loud and suddenly my knees are about to give out and I'm like whoa, you know, why am I losing my my control? Why am I about to fall? So that's what cataplex is. Some people notice it when they get startled.

[00:07:45]Some people notice it when they get angry or when they get upset. a lot of positive emotions, you know, like laughter or anticipation, you know, like, hey, I'm getting ready for an interview or for example, I remember this uh nurse who used to work in the hospital and the there, you know, someone crashed and the code was called and then she just couldn't, you know, and she had a cataplexi episode in in that moment. So, it it has real life consequences. So, but that is one of the main hallmarks. In fact, it's so specific to narcolepsy that if you have catyplexi, we already assume that you have narcolepsy unless proven otherwise.

[00:08:30]So, and in fact in broad terms narcolepsy gets described. There are two kinds of narcolepsy. One is with catyplexi where you know people have this muscle weakness but then there is a whole cohort that does not have cataplexi and those are folks called narcolepsy type two or narcolepsy without cataplexi. So that it's a pretty reliable sort of symptom when it's present clinically. Then I don't really it makes my life easy that hey as soon as I learn you have cataplexi then you know it kind of gets easier from there.

[00:09:07]But it can be very tricky cuz sometimes it's so subtle that I may not even be aware of that I'm doing it. Sometimes family members say hey why are you laughing out funny? because my jaw muscles are weak and my jaw is kind of falling open as I try to laugh. But you might think, hey, that's how I laugh. So you may never put, you know, two and two together.

[00:09:30]>> And is that something you could feel? Do you feel it or is it something that you might not be able to notice?

[00:09:36]>> No. Yeah, some if it's super subtle then you may not. Sometimes if you are with a close friend and they observe it, you know, they they've known you for a while. But other times it what ends up happening though once I ask these questions to my patients then they go back and you know they they start thinking about it or or they start paying more attention and then they go oh that's what Dr. was talking about, you know, so so sometimes I put it out there so that you know you start paying attention to some of this if it's happening to you. It does become noticeable if it keeps on getting worse, but it can be pretty subtle and and quite hard to figure out.

[00:10:20]So that's cataplexi in nutshell. What other symptoms can I have if I have narcolepsy? One thing that we commonly see that can be scary, especially if you've just started having these episodes, these are called sleep paralysis. Meaning, I wake up and my body feels like I'm paralyzed. I cannot move. And I try to scream, I can't scream. I know I'm awake cuz I can move around my eyes, but that's about it. And it lasts few seconds. It could last few minutes, but it's a scary feeling, especially if you've never heard about it or never experienced it cuz you're almost like, "Oh my gosh, am I really awake or am I sleeping?" You know, what's going on here? So, that happens in narcolepsy patients more often than the general population, but it can happen in normal individuals as well who don't have narcolepsy. So sleep paralysis is is another sort of hidden symptom here. The other ones that we see are hallucinations.

[00:11:29]Now it's important to differentiate what hallucinations. These are hallucinations that are specific to when I'm about to fall asleep or I'm about to wake up from my sleep. These hallucinations are happening only during those phases. So I'm about to fall asleep but then suddenly I hear sounds that are not there or I see things that are not there but lot of majority of the times these are auditory hallucinations meaning I'm hearing things that are not there. So these hallucinations can be quite distressing especially as I get older or if I have any other psychiatric problems then you know it could mislead clinicians to think oh maybe you're having a psychotic episode or schizophrenia and stuff like that. So it can mislead and take you on a completely different pathway if you're not careful.

[00:12:27]>> Absolutely. And you mentioned sleep paralysis and I is that also you know that feeling when people wake up and like you said can feel like a little bit paralyzed they also have that feeling of falling that's also sleep paralysis.

[00:12:39]>> That's right. That's right. Yes. And you can have both in that same moment or some people also describe you know something is sitting on my chest. You know it does happen in other conditions too. Sometimes I have patients who had terrible sleep apnea who reported very similar but most commonly I see it in my narcolepsy patients >> and that's another reason probably why sometimes it's so hard to really diagnose because there's so overlap.

[00:13:08]>> Exactly.

[00:13:08]>> And we talked about sleepiness and and versus being tired. But what does excessive daytime sleepiness actually look like on a day-to-day basis and how is it different than just being tired?

[00:13:20]So think of this as a big spectrum and you're going to be at a spectrum where it's not as bad and I can manage my life around it to an extreme and where hey I cannot sustain wakefulness and I fall asleep while talking I fall asleep while driving. I fall asleep while standing, cooking and that's another extreme. And your sleepiness could be from one extreme to not so extreme. It could be a mix of of any of that combination. But generally we notice that narcolepsy patients when they take naps now obviously it it becomes extremely hard to stay awake. So then you you know if you don't make time to take a strategic nap you will end up falling asleep and take a nap and usually those naps are refreshing. Now it does not sustain my wakefulness cuz I feel pretty good after I wake up from a 15 20 minute nap but it doesn't last very long and then I start to become sleepy again. So then I'm just constantly going through this cycle of having to take a nap, feeling rested for a little bit, but then the sleep burden builds up pretty quickly again and then I'm, you know, struggling to stay awake again. So that's really is how it plays out throughout the day and we monitor it closely obviously when we're looking at the treatment effects. You talked a little bit a few minutes ago about catyplexi, but what should someone be watching for if they suspect that this is something that's happening to them or even if it's maybe happening to someone that they care about? What you mentioned what it is, but can you talk a little bit more about what are maybe the symptoms or what to watch for? So, in in real life, you know, a lot of people is like, hey, that's how I am. That's where it kind of gets sort of pushed under the rug quite a bit. So they might think, hey, I've always laughed this way cuz the the fun fact about narcolepsy is it could start in pretty early ages. We have kids with narcolepsy who are 7 8 9 10 years old and they have narcolepsy and most people get it in their second decade of life. So when they're young teenagers or in early college. So, they could be doing this for a while without realizing that that's what my laugh sounds like, you know, or hey, I always close my eyes when I'm laughing or my knees always feel weak when I'm laughing, you know? So, to them, this is kind of normalized in my head, right?

[00:16:07]So, if you don't know, you don't know.

[00:16:09]You're like, okay, that's how you know I laugh. So that's one one thing to keep in mind that if you're doing it or if someone says that why are you dropping to your knees or having to sit down. So those are the things to pay attention to. But generally if you're seeing a clinician who's thorough in their evaluation they'll try to uncover that for you. You know if if you're getting assessed for narcolepsy. So catyplexi is pretty specific as far as the muscle weakness is concerned. Now it gets tricky especially if it's only impacting very small muscle groups like eyelids right I mean hey it's very hard and people may not notice that their eyes are just kind of getting droopy as they as they laugh out loud. Sometimes, you know, we've had patients, it's not so much associated with laughter, but it's with startling or if they get really angry or upset or, you know, see something bad happening and then they're really upset about it or they're in a situation where they needed to react but they couldn't cuz their muscles basically got paralyzed, you know. So that makes it really challenging because and then I've had patients who felt really bad like I wish I could do something about it but I couldn't you know and and then they they feel like there is something not physically but but mentally wrong with them you know so that can make it quite challenging to deal with. We talked a little bit about sleep paralysis, but how do the hallucinations associated with narcolepsy typically present? And also, how can someone tell them apart from other causes?

[00:17:52]>> So, that's a great question, Leila. Most commonly when if you're having hallucination, unless you're elderly, you know, then obviously there are a lot of neurological conditions that cause hallucinations. But in younger cohort, younger population, hallucinations are most commonly seen as an effect or as a symptom of a psychiatric disorder, for example, schizophrenia and whatnot. But how we differentiate between the hallucinations from let's say a psychiatric or mental illness versus hallucinations that are linked to narcolepsy is that the hallucinations we're talking about are generally only happening if around my sleep time basically. So when I'm about to fall asleep or about to wake up. So the timing of those hallucinations is crucial and that's what really determines whether I'm thinking about a psychiatric illness because those hallucinations can present whenever and generally they're you know hallucinations those are present during full wakefulness in the middle of the day I'm having those hallucinations but the one that I'm talking about for narcolepsy the timing is crucial because they're generally only happening when I'm about to fall asleep and about to wake up. Generally, we don't see both happening in the same person. So, it's either you're going to have when each time you're about to fall asleep that you get it or you know on the other end when I'm about to wake up and I see them. Pretty rarely I'll have when they say yes to both, but usually it's one or the other.

[00:19:34]>> Absolutely. And then why do some people with narcopsy often struggle with fragmented sleep at night on top of being sleepy during the day?

[00:19:43]>> So think of it this way. So if we go a little bit deeper into the mechanism of narcolepsy, it's happening because my orexin neurons are not making enough orexin in my brain. And the purpose of oraxin is to stabilize my sleep. So when I don't have that molecule, that chemical to keep my sleep stable, I'm dealing with a very unstable, fragmented sleep because of the lack of axin. And that's what we're hoping for with advances in science and research that hey, in fact, we're we're studying in our research trials currently. What is the impact of putting someone on orexin on their nighttime sleep? Does it stabilize? Does it make it less fragmented? So that's why you know I call it the big paradox of sleepiness in narcolepsy that even though I have massive burden of sleepiness all day long I'm fighting with staying awake.

[00:20:43]I'm fighting this sleepiness all day long but then when it comes time for me to sleep at night I'm very restless. I keep waking up frequently and in fact that's a big cause of misdiagnosis.

[00:20:58]Reason is cuz then a lot of people go down the rabbit hole of insomnia cuz thinking oh you got insomnia you're not sleeping so good. So they keep blaming their nighttime sleep for their daytime symptoms without realizing that this could be a completely different problem than insomnia. So that makes it really especially challenging. Now obviously that doesn't luckily not every narcolepsy patient is going to have that disrupted nighttime sleep but majority of them do and we've been you know through all the research trials and clinical studies now we're seeing and in fact patient voices you know when you hear patients like okay yes I know everyone's focused about excessive daytime sleep but what about my nighttime you know I don't feel like I'm getting good solid chunk of sleep cuz they never really go into deep sleep for as long as they would like to feel refreshed. In fact, some of the medications target that as part of the treatment to help you go into way deeper sleep than you would naturally go and then we see the impact on their daytime functioning because it it does get better.

[00:22:12]>> Yeah. And there's definitely I'm just thinking about even what you said in previous episodes. I think the overlap or confusion between insomnia and narcolepsia is incredibly hard to figure out because insomnia, we talked about this in a previous episode. I I'm sure like most people think it's when you can't fall asleep. But what I learned is that you actually can fall asleep in certain instances, but you can't stay asleep.

[00:22:36]>> So that sounds so much like what you're describing about narco.

[00:22:39]>> You're right. And they're both insomnas.

[00:22:41]And it turns into sometimes classic check and egg situation. and you're like, "Okay, which one do I treat first?" You know, and and then insomnia has 20 different medications that people could go through or they keep blaming insomnia. Nothing is working, but they keep paying the price the next day by not able to function well or being super sleepy. So, you're right. Sometimes these can be pretty challenging to to pinpoint apart.

[00:23:11]>> Absolutely. And then let's talk a little bit about the warning signs, right? So how early can these warning signs appear and why do they often go unnoticed or unconnected even for so long?

[00:23:23]>> So there are a few different factors they can you know as I was saying childhood narcolepsy is a thing. So a lot of kids start having these symptoms especially cataplexi and generally you know parents if they're observant they will notice that okay why is my child knees buckling or why are their jaw you know looking funky or their face is looking different when they're laughing and obviously as the disease progresses they get extremely sleepy or they're taking unintentional naps all the time.

[00:23:57]So it does start in early childhood but majority of the patients it will start you know in their second decade of life.

[00:24:05]So when they're late teens early adulthood would be another common group.

[00:24:10]So those warning signs are really you know cataplexi sometimes it doesn't happen every day. So sometimes that's where it becomes tricky. you know, if if I'm not a person who laughs out loud every day, then hey, I may not even have a chance to notice it. Or if I if I don't have a a solid social group, you know, if I'm sort of uh isolated or no one is really paying a whole lot of attention, then, you know, it it becomes hard to to sometimes even uncover those.

[00:24:46]So the early warning signs generally is that my naps are becoming more frequent.

[00:24:52]I'm starting to get more sleepy or sometimes patients call it sleep attack almost like this unbearable feeling that okay I got up sleep and you just can't fight it. So those are some of the warning signs as and they'll show up more and more as the disease progresses.

[00:25:11]So, but all these symptoms that we talked about, they can present in pretty random order. So, there's no fixed sort of timeline that hey, first you're going to have sleep paralysis, then you're going to have sleepiness, then you're going to have cataplexi. It just is all jumbled up and one thing could present before the other. So, that's why you you kind of have to address every everything. And it's pretty rare to have all of these in just one person. So, not every person's going to get hit by every single of these symptoms that we talked about.

[00:25:46]>> And then if someone notices a pattern of these warning signs, what should their next step be? And what should they ask for when they see a doctor? Cuz I think we've talked about this a little before too about when it's time to see a specialist, but seeing, you know, your regular standard provider with all of these symptoms might be a little overwhelming.

[00:26:04]>> Yeah, this, you know, this question reminds me of a patient story. I would like to share this young man I saw and I think I'm talking about close to 8 10 years ago now but his story is so vividly preserved in my brain. This was rural setting, a farm boy basically. And all his life he felt abused and neglected because of his excessive sleepiness cuz it was just always chocked up to being lazy and not motivated to do anything. But once we figured out what was actually going on with him, you know, this guy was very tearful and very sad about, you know, how different the life could have been if someone would have figured out this when he was little. So you know a lot of times these conditions they get missed because I'm just thinking oh you must be lazy or you don't want to do anything or blame mental illness but I may be depressed cuz hey I'm super tired and sleepy all the time and that is a depressing thing in itself right if I if I can't do anything eventually it'll catch up to me and it'll start impacting my mental illness >> if someone notices is a pattern of these warning signs, what should their next step actually be and what should they ask for when they see their dog?

[00:27:36]>> So yes, and and they should and it's not that this guy never went to his family doc, but you know, if you don't know, you don't know. And things were very different 20, 30 years ago. We have much more knowledge at our fingertips. We can Google stuff and and find out and get led in maybe hopefully in the right direction. Not always but sometimes. But the thing I would ask my primary care physician is that hey once you rule out medical common conditions like thyroid or depression and some of the other ones then don't just stop there if those tests come back normal. Of course they will. You know we expect those tests to come back normal. But then don't just, you know, sit there and just say, "Okay, you did all the testing, all your medical lab tests and all this is pretty normal and I'm still super tired and sleepy. Can I go see someone who is an expert in treating sleepy people, who's an expert in narcolepsy, which most commonly is going to be your sleep medicine doctor closest to you?"

[00:28:43]>> Absolutely. And then once narcolepsy is suspected, what does the evaluation process really look like? And what should every listener really know before they walk into that appointment?

[00:28:54]>> So when when you walk into the appointment to go see your sleep clinician first, obviously, you know, majority of the sleep clinics that that I'm aware of, they're having you fill out questionnaires that are already addressing some of these symptoms. And in fact in our clinic we have a sleep questionnaire that tries to ask these questions beforehand because one it allows our patients to consider those questions and if they haven't really thought about certain symptom that it gives them time to think about it or ask their parents or ask their partners or their friends that hey do I do that you know so stuff like that and then when you come in we will examine in your sleep schedule. We'll make sure we rule out and ask symptoms for other common sleep disorders to make sure there isn't any other underlying problem that could be misleading. Sometimes we do home sleep test first to rule out sleep apnea and before we go into further testing for specifically narcolepsy.

[00:30:03]And a lot of times what will end up happening is you go through this pathway of having a good clinical evaluation do some kind of initial testing to rule out common sleep disorders like sleep apnea and then we go into more specific testing for narcolepsy which most commonly is the nap study or the MSLT that you and I have covered in our other episodes. But sometimes even that does not give us a reliable answer and then you have to kind of take a step back.

[00:30:39]There is actually a CSF or cerebrros spinal fluid where you do a spinal tap and take out some CSF fluid and send that fluid for lab testing to actually measure the levels of orexin and narcolepsy type one at least that test can easily find out if yourin levels are low and if they are then that confirms our narcolepsy diagnosis. now because that test is fairly invasive so it doesn't generally get used a whole lot unless we really really have to but it is available in this day and age for confirmation and sometimes in very difficult cases we have to do that.

[00:31:23]>> There's so many ways that you know these disorders can really really be figured out and sorted out but it's so interesting to hear all the different ways. It's fascinating to me. But I think that this was another great episode and Dr. Sani, thank you so much for really walking through this, but walking through this with so much clarity and I think one thing that really stands out to me most is that none of these signs exist in isolation.

[00:31:48]It really is it's a pattern across the daytime sleepiness, disrupted nights, and these other symptoms like cataplexi or sleep paralysis that really tells the real story. So, if you have been listening and recognizing pieces of your own experience in what we covered today and previous episodes as well, take that seriously. Your body is telling you something and a pattern like this is definitely worth bringing to a sleep specialist and not something to just keep explaining away or keep really just thinking about within your own mind. So, thank you so much for listening to this episode and for listening and following the show. This is another great episode of the hidden sleep disorder show and make sure you're follow subscribing and sharing the show and before we wrap up is there any final thoughts you want to share with the listeners? One thing I would like to share is don't just assume even for people who are already being diagnosed or being treated that you know as we learn we know the limitations of older medications older therapies and there's always new stuff on the horizon.

[00:32:52]There are all kinds of active clinical trials going on right now to look for the impact of orexin medications out there. So this is actually a very very exciting time for us as far as narcolepsy field is concerned. So please reach out to sleep clinic to us if you feel like your symptoms are not fully under control because there are ways to to tackle it and if you you know never what you don't know you don't know so so it doesn't hurt to explore your options.

[00:33:26]>> Absolutely. I think that was very very very well put and I can't wait to discuss our next our [music] next topic and our next conversation. I'm looking forward to it and again make sure you're following and subscribing to the show so you don't miss the next episode and [music] I can't wait to speak to you again soon.

[00:33:42]>> Me too. Thank you.