I'm frustrated, angry, confused and wondering if anyone else has experienced this.
About 11 years ago (at age 25) I finally went to my doctor about being tired ALL the time, the constant napping, the interference with my life, the inability to stay asleep for longer than about two hours at a time, etc. I always joked that I had 'cat nap disease'. My doctor at that time did all of the testing she could in her clinic and everything came back normal so she sent me on to specialist after specialist. She was great, relentless. A year later, I finally went to a rheumatologist who knew immediately what was wrong with me. He sent me off for the ever-joyous experience of a sleep study and a week later told me I was borderline for Narcolepsy. The 'borderline' part was because I didn't enter REM sleep but once during the MSLT test. Like most people - with and without Narcolepsy - I was shocked because of all of the myths surrounding it. He prescribed Provigil (200mg once a day) and my world was changed. I loved this doctor so much.
I've moved several times since seeing that doctor ten years ago and they have always come back with the same diagnosis and for the same reasons. My medication was adjusted in 2007 from 200mg of Provigil per day to 400mg per day because it just wasn't working as well. This past December I again went to a new doctor for the same reason - the Provigil just wasn't cutting it anymore - and he switched me to 250mg of Nuvigil a day. I also talked to him about the fact that my night time issues were getting worse - the constantly interrupted sleep, the hypnogogic hallucinations, the fact that sleep feels like the biggest waste of time, etc. Fortunately, I do not have cataplexy. He prescribed Imipramine for night time and that was an absolute disaster. I went back to him and told him that I hated the Imipramine and he told me to stop taking it and then absolutely blew me off. I asked him "What now?" and he said "If it isn't working, stop taking it. Keep taking the Nuvigil and come back and see me in three months." He said this as he was getting up and walking me to the door!
I found a different doctor the next day and saw her the next week. She ordered a sleep study - my fourth sleep study since this whole journey started - even though I brought her all of the full reports from my previous studies. She seemed convinced that I had sleep apnea though none of the tests showed that and disregarding me telling her that I have been sharing a bed with the same person for 15 years and he has told me many times (because I always ask) that I only snore if I'm on my back - which I rarely sleep on my back - and if I'm sick and that I never have stopped breathing for even a moment. Having Narcolepsy, he has plenty of opportunities to watch me sleep! She said to me "He's not a doctor, is he?" Me: "I had no idea that a medical degree was required in order to know if a person was breathing or not."
Fine. I do the sleep study but, unlike the previous three, she didn't want me to stop taking my meds for the study. How can you get an accurate picture of what a Narcoleptic person's sleep is like if they are medicated?
The sleep study came back showing (she says) that I have VERY mild sleep apnea and that I snored all night. I told her that I slept on my back most of the night - and the test showed that was true - because several times during the test I inadvertently hog tied myself with the wires from my ankles and the wires from my arms and had to get the technician in there to untangle me. I knocked the thingy that was on my upper lip off my face I don't know how many times. I also told her that I had to make a last-minute appointment with my doctor two days later because I ended up with an acute infection in both of my ears and my lymph nodes were the size of my fist which caused my throat to be very sore. That had to have had an effect on the test. Right?
Not according to her.
She is now telling me that I don't have narcolepsy and that I'm not even close and is now trying to treat me for sleep apnea.
I'm so angry, frustrated, upset, ... I do not understand how this doctor can throw out three other sleep studies and ten years of mostly successful treatment for what I think a faulty study has shown. Faulty is maybe not the right word. I believe the study was done absolutely proper but that it was in no way indicative of a typical night for me.
I feel like that horrible journey I went on to find out what was wrong with me over ten years ago and all of the answers I finally got, the effective treatment, all of that has been taken away from me. I feel like I'm back to day one with this.
She has no issues with me continuing to take the Nuvigil and has given me some ridiculous night time meds to try. I will NOT wear a CPAP machine considering I have to be completely sedated just to go to the dentist because I can't stand things (people, hands) on my face. I'm very freaky about my face - I'd react less violently if a stranger grabbed my butt than if a stranger touched my face. I tried these sticker thingies that go over your nostrils and have a valve for you to breathe through. Yeah... If I was searching for a way to feel as if I was suffocating while trying to sleep, they would be my go-to remedy. I was fitted for an 'oral appliance' and tried that once. Briefly. It caused me to drool excessively and, as a consequence, to aspirate my own saliva. The sleep meds she's given me do not work.
Has this happened to anyone else? What did you do? What the heck am I supposed to do?
Sorry for going on about this but... I think folks with Narcolepsy understand frustration and the manifestation of it...
A few questions:
(1) Did any of the physicians do a lumbar puncture and have your cerebral spinal fluid analyzed for presence/absence of hypocretin? If so, what was the result?
(2) Did any of the physicians submit your blood for genetic testing for DQB1*0602 positivity? If so, what was the result?
(3) Do you ever experience cataplexy, that is, sudden muscle weakness brought on bystrong emotions, particularly joking, laughter, or anger? [You already say "No"].
(4) Do you ever experience hypnagogic hallucinations, that is, dream-like, often frightening hallucinations that typically occur with drowsiness or the onset of sleep? (These hallucinations are usually visual, with reports of seeing people or animals, but tactile, auditory,or even vestibular hallucinations such as a sense of suddenfalling are not uncommon.) [You already say "YES"].
(5) Did you have a history of streptococcal infections prior to onset of the excessive daytime sleepiness? (There is emerging evidence that strep infections may lead to an autoimmune response that attacks the neurons that produce hypocretin, ultimately leading to narcolepsy).
(6) Did you suffer a closed head injury relatively close in time to, and preceding, onset of the excessive daytime sleepiness? (See journal article excerpt, below).
Since your sleep studies produced marginal findings, i.e. "borderline" narcolepsy, and based on your physican's statements reported in your post, it sounds as if your current diagnosis is idiopathic hypersomnia. The hypnogogic hallucinations can exist with that diagnosis, but they are strongly suggestive of narcolepsy, as you know.
It is also possible that you may have secondary narcolepsy, but the absence of cataplexy and your sleep study results militate against that diagnosis.
I presume that you have had a brain MRI?
In order to more definitively arrive at a diagnosis, it would be important to test your cerebral spinal fluid (CSF) for the presence or absence of hypocretin (orexin), a polypeptide that is the key substance mediating sleepiness and wakefulness. Idiopathic primary narcolepsy usually correlates with a lack of detectable hypocretin in the CSF.
Additionally, the overwhelming majority of persons with narcolepsy will test positive for a genetic variation known as DQB1*0602 (although 99% of those with that variation will never develop narcolepsy).
The following excerpt is from an article by the doc who finally properly diagnosed me:
"Differential Diagnosis. In the absence of other neurological deficits, the combination of chronic sleepiness with cataplexy or more than two SOREMs is almost always caused by narcolepsy. Sleepiness, cataplexy, and SOREMs can occur in uncommon diseases such as Prader–Willi syndrome,Niemann–Pick disease type C, and Norrie disease, but all these individuals have mental retardation and other obvious neurological deficits. In patients without cataplexy, diagnosing narcolepsy can be difficult, and one should consider other causes of sleepiness such as sleep apnea, periodic limb movements of sleep, insufficient sleep, or the effects of sedating medications. Narcolepsy without cataplexy may overlap with idiopathic hypersomnia, a heterogeneous disorder of chronic sleepiness. By definition, patients with idiopathic hypersomnia lack cataplexy and have less than two SOREMs on the MSLT. Some of these individuals have deep, excessively long periods of sleep, difficulty waking from sleep, and long unrefreshing naps, but many have symptoms similar to narcolepsy.
"Secondary Narcolepsy. On infrequent occasions, narcolepsy occurs as a consequence of a focal central nervous system lesion. These lesions almost always involve the posterior hypothalamus, and tumors are the most common cause.Strokes or arteriovenous malformations of the hypothalamus are rare but can cause narcolepsy. Hypothalamic sarcoidosis has caused narcolepsy in at least two cases, although neither had cataplexy. Postencephalitic sleepiness resembling narcolepsy was common in the 1920s, but we know of no similar epidemic since then. A recent report described patientswith paraneoplastic anti–Ma antibodies who have hypothalamic inflammation, sleepiness, and cataplexy,but polysomnograms were not reported. Melberg and colleagues have described a Swedish family with autosomal dominant cerebellar ataxia, deafness, and narcolepsy. Affected members gradually develop chronic sleepiness and cataplexy in young adulthood along with enlargement of the third ventricle suggestive of hypothalamic atrophy."
"The association of narcolepsy with head injury and multiple sclerosis is more controversial. Most people with hypersomnolence after closed head injury do not have narcolepsy, but some patients with narcolepsy report that their symptoms began after a head injury.On several occasions, narcolepsy has occurred with multiple sclerosis, but it is usually unclear whether the narcolepsy was caused by a focal plaque. Although these associations are rare, it remains possible that central nervous system inflammation or injury could increase the risk of developing narcolepsy."
Scammell TE. The Neurobiology, Diagnosis, andTreatment of Narcolepsy. Ann Neurol 2003;53:154–166.
I would ask your doctor to do an analysis of your CSF and a genetic test of your blood for DQB1*0602.
Incidentally, I don't know what your insurance situation is, but if Nuvigil is causing you financial strain, you should ask your doctor if she would prescribe modafinil instead. Modafinil, the generic name for Provigil, was a very expensive drug until its exclusive patent ran out. So, Cephalon began pushing Nuvigil, which chemically is armodafinil, the first metabolite of modafinil. Armodafinil is what modafinil becomes at its first stage of metabolism. Modafinil will produce the same results at up 80% lower price. There is no clinical evidence that armodafinil is superior to modafinil in efficacy or safety.
I am neither a physician nor a pharmacist and the foregoing information is provided on the basis of personally-conducted research and personal experience as a narcolepsy patient and as an autodidactic student of sleep disorders as a member of the American Academy of Sleep Medicine. You should not rely upon or act upon any of the foregoing information without first consulting with your physician.
Best of luck,
My GP wanted me to do another sleep study to test for Sleep Apnea because she thought I could have developed Sleep Apnea "on top of" my narcolepsy. She said I'd take all my meds as usual because she didn't need to confirm the narcolepsy, she just wanted to test for sleep apnea.
I didn't end up doing the test because it's just way too expensive and I know I don't have sleep apnea, but my point is that the doctor acknowledged that continuing my medications would mean that the sleep study COULDN'T test for narcolepsy -- I mean, that's the reason I take the medication, to treat the symptoms! -- and she also acknowledged that you can have TWO disorders! Narcolepsy with a side of sleep apnea.
If your doctor is not doing the same thing, you might need to get assertive. Especially if your doctor has already said something like, "Is you husband a doctor?" to suggest he can't tell if you're waking up every night because you can't breath. That's a symptom of a doctor who isn't listening, which is an unfortunate problem for those of us with chronic -- and misunderstood -- conditions.
Sometimes simply asking a doctor to repeat what you just said to her/him back to you is enough to show them they're not really listening to your concerns.
Some points I'd make:
1 -- you CANNOT get an accurate picture of ANYONE's sleep if they're ill with something like you had (a cold or flu) -- because pretty much all illnesses affect sleep. Either they make you more tired/drained, or they clog one nostril and you can't sleep, etc.
2 -- congestion can read as mild sleep apnea on a sleep study
3 -- if the sleep study at night is not done in a normal or comfortable position (I can NOT fall asleep on my back, for example, because of the sleep paralysis) the study will be tainted - for example, I had a hard time falling asleep because the glue they used bothered my skin... luckily my automatic behavior was VERY limited that night to moving the one reading that was behind my ear... otherwise I might've pulled them all off my face in my sleep.
3 -- you can't say someone isn't narcoleptic when they have (more than caffeine) stimulants in their system. In most cases, you have to stop medication for 2 weeks to make sure it's out of your system! They did a urine test on me to ensure I didn't have any stimulants in my system or other drugs that could ruin the test.
Did they do this for you in your fourth study? Often every sleep lab has a certified sleep doctor write up a report (separate from your own doctor who ordered the report) on the results of your test. You should get it as part of the study -- you can request it if you don't get the report. Chances are, the sleep lab's certified sleep doc will disagree with your doctor in this case. So you'll want that eval!
4 -- hypnogogic hallucinations AND sleep paralysis are NOT NOT NOT NOT NOT -- I repeat NOT -- a part of sleep apnea; ergo, if you have them, narcolepsy is the relevant diagnosis AND if you do have sleep apnea - no matter how mild - it would be an additional issue, not something that overwrites your current diagnosis.
Another big part of the narcoleptic journey -- for me, anyway -- was educating myself. I learned that the "best" number for diagnosing narcolepsy doesn't come from the overnight polysomnogram. I had a 94% sleep efficiency from my polysomnogram. The "best" indicator of narcolepsy comes from the MSLT nap test that takes place the next day. The "best" number to have is for REM-onset time. That is, the amount of time it takes for you to fall into REM sleep after you fall asleep. The "best" number for this measurement is 5 minutes.
Normal people have a REM onset between 80 minutes to 100 minutes. Narcoleptic people have 5 minutes.
My mean REM onset number was 8 minutes. Obviously something was wrong, but technically it was not enough for a diagnosis of narcolepsy. However, I have had sleep paralysis and hypnogogic hallucinations all my life, and I had EDS and sleep attacks. No cataplexy BUT, with everything else, it was clear I had idiopathic narcolepsy without cataplexy.
When a doctor tries to tell me I don't have narcolepsy -- or suggest my original study didn't produce the best results -- I know enough about the process to shoot them down. For example, my sleep study was done within a month of my first sleep attack. A lot of people with narcolepsy are misdiagnosed or simply aren't diagnosed for up to ten years. One reason my REM-onset wasn't the 'best' number was that I was diagnosed early -- I went to a doctor almost immediately after my first sleep attack. I also had very good sleep hygiene at the time because I've had sleep paralysis from a very young age and had to manage. My sleep health -- or sleep hygiene, whatever you want to call it -- could also offset the number.
Then I resort to Diagnosis Mathematics:
+ sleep paralysis
+ sleep attacks during the day
+ ruling out hormonal imbalances and other physiological possibilities
Narcolepsy without Cataplexy
If the doctor is too stubborn to admit that the evidence make her wrong -- or to listen to the patient -- you need to find another doctor right away. I've found that many doctors belong to "CAMPS" -- for example, some doctors will promote a reduced-calorie diet with high-protein and low-carbs to lose weight, while others would suggest a reduced-calorie diet rich in carbohydrates to lose weight. It depends on which "NUTRITION CAMP" they belong to.
Similarly, doctors have CAMPS when it comes to dealing with other things -- like insomnia, headaches, etc. Maybe this doctor is firmly in the "SLEEP APNEA CAMP" and rules out narcolepsy due to its relative rareness. Just because she UN-diagnoses you doesn't mean the next doctor will be as lame as she is.
A good way to get help is to be assertive and proactive. Here are some examples of things I've done in the past:
(1) Alarm clocks. I have a sunrise (halogen) alarm clock that wakes me with light. I also have an aromatherapy clock that does the same. As well as a deaf alarm clock that shakes the bed. This might help manage your sleep wake time, making it easier to fall asleep at night.
(2) Ask about Ketogenic Diet. Ketogenic diets are usually prescribed to children with refractory epilepsy. The diet isn't good for your body but it is AWESOME for your brain. I tried the diet itself -- but the diet isn't great on all the other organs in the body beside the brain, so I asked my neurologist and she recommended Axona, a new food supplement.
Axona was created as a treatment for Alzheimer's Disease. Since Ketogenic diets can smite your kidneys and liver, it's not a good idea for people with Alzheimer's Disease to go on a Ketogenic diet. However, this supplement does the same thing as a ketogenic diet does to your metabolism without smiting your kidneys and liver. This helped me out for a while, actually.
(3) Ask about thermal regulation. Did you know that the temperature fluctuations of a narcoleptic person are different than their non-narcoleptic counterparts? Drinking HOT milk at night might help most people sleep at night, but for a narcoleptic person, COLD helps you fall asleep at night. HOT is good for the morning/wakefulness. Something as simple as cooling your bed room, cooling your hands/feet with gloves, or drinking something very cold at night can help you sleep better.
(4) Physical workouts can trigger all kinds of beneficial things, but helping you sleep at night is one of the best outcomes. I started Karate and my sleep improved A LOT because the physical training was rigorous.
(5) Herbal options: Futurebiotics Relax and Sleep worked well for me, too.
I haven't talked to my doctor about Xyrem, but maybe you should. The insomnia + narcolepsy companionship is never fun to live with. Xyrem can only be prescribed to people with narcolepsy, and maybe it's time you had it prescribed.
It's painful to be a patient and feel not listened to. I actually write everything down before I go to the doctor, in case I lose my nerve, or I'm too tired, or I forget. I actually come in with a list of symptoms, questions, etc. so I don't miss anything. Sometimes being a patient means being a jerk, but so far that's paid off for me in spades...
Hope you figure out something soon,