Diagnosis: Narcolepsy

For at least 5 years, I have made a repeated complaint to various doctors that I am very tired during the day. I believed it was an abnormal level of tiredness and I assumed it was due to my existing thyroid condition potentially being under-treated. However, since my blood tests did not have anything abnormal, I was always told the treatment level should be adequate and usually told to lose weight.

I had a night time sleep study performed at one point a few years ago to look for an apnea. It showed only very minor abnormalities, but I was put on a CPAP anyway. CPAPs are incredibly unpleasant to sleep with and – for me – changed bedtime from a blessed time of day to one I stressed about. I did lose a little weight and was told I could cease the CPAP, which I eagerly did.

This year, I moved from WA to GA and obviously had to take up with a new doctor. Given that I was still complaining of consistent fatigue with nothing in my blood tests to account for it (and I had gained back the weight I had lost), my doctor ordered a new consultation with a sleep doctor.

During that consultation, my sleep doctor suspected I might be Narcoleptic. He ordered a night time study also to be followed by a MSLT (multiple sleep latency test) to be performed during the day immediately following the night time study. During an MSLT, you are given 20 minutes every 2 hours to attempt to nap and you are connected to an EEG to see if you enter REM sleep if you are successful. If you are a normal, sleep-healthy individual, that is unlikely to be enough time to fall asleep mid-day. If you do fall asleep, it will likely take you 15-20 minutes and there is very little possibility you will enter REM sleep. (Most people take 60-90 minutes to enter REM sleep unless they are sleep deprived on the order of 48-72 hours without sleep.) However, Narcoleptics are essentially constantly sleep deprived, so they will often fall asleep in less than 10 minutes and enter REM sleep very quickly. In fact, many of the symptoms of Narcolepsy are related to the body attempting to enter REM sleep while awake.

During my study, I fell asleep during every nap and entered REM sleep during one of them. I don’t have a copy of my detailed results yet, but the doctor said I was “obviously very tired”, so I’m guessing I fell asleep very quickly. Interestingly, there were a few naps I wasn’t sure if I slept at all – but I hear this is pretty common not to realize you slept and/or dreamt during the study.

Now, normally, it takes 2 periods of REM sleep during the MSLT to have a firm diagnosis of Narcolepsy, but given that I have had a couple of other symptoms in my history, my doctor felt the diagnosis was appropriate and has started me on medication.

Since Narcolepsy has no cure, treatment is symptom management. You try to stay awake and alert during the day (although a number of Narcoleptics use daytime naps to help manage tiredness), and you try to sleep better at night. For me, that means I’m taking stimulants during the day. However, I’ve just started and it’s not uncommon for it to take trying several treatments and activities before finding the best treatment plan.

My symptoms aside from EDS (Excessive Daytime Sleepiness), for anyone who is curious, were sleep paralysis (only happened once or twice – many years ago) and automatic behavior. Automatic behavior is basically when you unnoticeably fall asleep while performing a (usually routine) task and continue to perform the task, though usually impaired since you’re asleep. For me, that translated to putting my keys or cell phone in the fridge after coming home a couple of times and some similar things I wrote off as just being absent-minded.

I consider myself very fortunate not to have experienced the more debilitating symptoms (yet) such as cataplexy or hallucinations. Additionally, I am thankful that I have usually been able to control my sleep – as far as I know I haven’t fallen asleep unwillingly except potentially in the few cases of automatic behavior.

I am not sure how my Narcolepsy developed, either. There is new research that strongly suggests it is an autoimmune disease, like my Hashimoto’s, so that doesn’t surprise me. Also, like Hashimoto’s there is thought to be a strong genetic link that requires some type of environmental trigger to kick the immune response into action and create the damage. There are a few things I could speculate to have caused this, but I won’t ever really know for sure.

I also consider myself very fortunate that the path from suspicion to diagnosis was very short and relatively pain free – not counting the years of just complaining about fatigue, which is an admittedly vague symptom. It is thought that only about 1 in 4 people with Narcolepsy actually receive a diagnosis and those that do take, on average, 10 years to receive that diagnosis from the onset of the disease. Of course, it may have been that long – if not longer – since the onset, but, again, with my vague symptoms, I am not surprised.

If anyone would like more info on Narcolepsy in general, there’s some great stuff up at the Narcolepsy Network site. Also, here’s a pretty good info-graphic from Julie Flygare at www.julieflygare.com.