diagnosing narcolepsy

To recap and expand on the HOME page introduction:

Narcolepsy is a disease which is highly incapacitating and which is poorly understood by both the public and most professionals. It is massively under‐diagnosed or very often misdiagnosed. In general, persons with narcolepsy (PWN) comprise a highly neglected community of sufferers. If you are reading this and have already been diagnosed with narcolepsy, you probably have already travelled the long and frustrating road to diagnosis for yourself or for one of your loved ones*.

*(To those PWN -  we would love to hear from you of your experiences regarding diagnosis and any suggestions you may have on what ways we could better present the information and advice we are providing here, and on this site in general - you can contact us at info@narcolepsyireland.com ).

Latest  research (2108) shows that the average time it takes for  an adult to be diagnosed from the onset of symptoms is 6 years.  For children the figure is approximately 2 years. Unless the sufferer is fortunate enough to make an early connection with a consultant sleep specialist, with experience of narcolepsy, the likelihood  of an early diagnosis is very slim.

The reality is that very little time has historically been spent on the subject of sleep disorders in the training programs for medical professionals. This accounts for the otherwise inexplicable number of misdiagnosed and often incorrectly medicated sufferers.  Many other narcolepsy sufferers are simply totally undiagnosed with many being fobbed off or considered to be malingerers. This can have devastating psychological and emotional consequences for the sufferer.

Part of the mission of Narcolepsy Ireland is to work to reduce the current extremely long diagnosis time for narcolepsy by promoting awareness of narcolepsy at primary care level and by promoting and advocating for the provision by the HSE of adequate specialised medical facilities and personnel required to achieve early diagnosis.

If you are reading this you may have already been diagnosed and already know this reality. But if you are someone who has not been diagnosed but suspects that  you yourself,  or a family member, loved one or friend might have narcolepsy it is very important that you are aware that when you go to your GP or A&E that there is a real possibility that the medical person you will meet will have very little or zero experience of narcolepsy. Ironically, you may have to educate them! So learn as much as you can from this site and elsewhere and you will then be better able to deal with the lack of knowledge you may encounter.

Also, most people with sleep problems do NOT have narcolepsy, so do not worry unnecessarily. There are some  self diagnostic tests you can take and some very specific symptoms you can look out for to help you evaluate your situation. That information will be very valuable if you find you have to convince your primary health caregiver that you have a real problem. Click on LEARN MORE below for more detail.

Ways you can help to progress your diagnosis

While clearly the ideal solution is to have one's illness diagnosed by a medical professional, the national and international reality is that the diagnosis of narcolepsy by that profession is currently seriously inadequate. To the person reading this who suspects that they or their loved one, spouse or child, may have a sleep problem we would suggest the following advice as a way to help your doctor more quickly arrive at an accurate diagnosis.

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Keep a written symptoms record.

Familiarise yourself with the classic symptoms of narcolepsy. Be aware that not all PWN have all the symptoms of narcolepsy and that many PWN experience the symptoms that they do have in varying degrees of severity. It is also unlikely that all these symptoms will present themselves immediately in the early stages of narcolepsy. So, know the symptoms and keep a written record over a period of time (at least 2 weeks) of in what way and how often any of these symptoms have affected you during that time.

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Self evaluation:

There are two tests that you can easily do online, either for yourself or on behalf of a loved one, or a child or a friend.

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The first test is called the Epworth Sleepiness Scale (ESS). The ESS provides a simple standardised means of measuring general levels of sleepiness. It can be used by healthcare professionals to assist diagnosis or by anyone who suspects they or a loved one may have a sleep problem. It tests for one of the most common early symptoms of narcolepsy which is Excessive Daytime Sleepiness (EDS). You can find an ESS calculator at the following link:

http://www.sleepmed.com.au/epworth-calculator.html

 Please remember that excessive daytime sleepiness can have many causes, so if the score indicates that there is a sleep problem then it is not in any way conclusive that it is caused by narcolepsy. But it should be investigated medically and the possibility of narcolepsy should be considered.

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The second test is called the Swiss Narcolepsy Scale (ENS). This test has proven to be effective in assisting in the diagnosis of narcolepsy with cataplexy (Type 1 narcolepsy). As with the previous test you can easily do this online and you will find a simple test scale at the following link:

https://www.swissnarcolepsyscale.com/

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Keep a sleep diary.

In order to help your doctors assess the extent of the problem it is very useful to be able to provide them with a written record of your sleep pattern (or that of the person you are helping). We would suggest keeping such a diary for a period of time of at least 2 weeks. Your doctor should definitely want to know as much as possible about your sleep pattern and habits that might affect that pattern. You can make your own diary headings but to give you some guidance as to what you should record, you can download and print a sample sleep diary at the following link:

https://sleepcouncil.org.uk/sleep-diary/

You may find that you will have to extend the section on that sample diary that deals with daytime naps or sleep episodes, as narcolepsy typically involves poor quality night time sleep and unusually frequent episodes of sleep during the day.

The important things to note in your sleep diary are how fast you fall asleep generally (obviously, you will need someone to help you with this). However, if you fall asleep the minute you lie down, you will be aware of this yourself. For example, if you can’t get past the first paragraph in the book you are reading….. ALL THE TIME… etc.

Note also how many times you doze off during the day and during what activities. A person with narcolepsy is capable of falling asleep while eating, in conversation, watching TV, travelling on a bus, train or even while driving.  Your sleep episodes may only last a few seconds or can be much longer. This information is invaluable as it is this often odd and bizarre pattern of sleep habits that set you apart from just being tired, overworked etc.

In your sleep diary, also  describe your night-time sleep. Do you dream a lot? Do you have nightmares or hallucinations? All of this information will help your doctor and don’t be afraid to insist that you be referred to a sleep consultant for specialised assessment.

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Take  videos!!

Quite apart from the general lack of awareness in the medical profession about narcolepsy there is also the very real problem that when the person who has narcolepsy attends their doctor there is almost never any physical sign of the disease for the doctor to see.  Narcolepsy has therefore  sometimes been referred to as "The invisible illness". This again contributes to the disease not being diagnosed at all or to an incorrect diagnosis followed by incorrect treatment.

So, as well as having complied a symptoms record, a sleep diary and  having the printed results of the 2 tests referred to above, it is beyond question that videos of the affected person taken while they are experiencing the symptoms, constitute very compelling evidence for a doctor to actually see happening.

 Clearly if you are the person affected then a friend or loved one will have to do this for you, while if you are helping another then you can be the one to make sure that videos are taken. Nowadays this is simple to do. Almost everyone has a mobile phone with video capability. So use it. With their permission, take videos of the person asleep during the day, in the chair, in the office, in school,  in the car - or wherever.

If the person has cataplexy then videos of any such attacks provide very strong evidence. It is very unlikely that the sufferer will have a cataplexy attack in the doctor's surgery, but video evidence of the person having cataplexy attacks will be very hard for any doctor to ignore. Cataplexy is considered an extremely specific marker for Type 1 narcolepsy. There are no other known diseases of which  cataplexy is a symptom.

Referral by the GP or hospital doctor to a sleep specialist:

Assuming that the GP or A&E doctor accepts the fact that there is a sleep problem you will then be referred to a sleep specialist for full assessment. As we have already stated above, if you feel that your case is not receiving appropriate attention by the GP or hospital doctor do not be afraid to insist on referral to a specialist. If you have reached the stage of hospital assessment it is likely that the doctors will want to carry out a range of tests to eliminate other possible causes of your problem. Ultimately the final stages towards diagnosis of narcolepsy requires a full sleep study.

The sleep study tests
If it is recommended by your consultant, that you should be tested the sleep study involves an overnight stay in hospital. The necessary sleep study is currently carried out at the Mater Private in Dublin, and will also be available at a new Sleep Clinic at Saint James’s Hospital, Dublin, which will become active in the very near future.
Two tests in particular are considered essential in confirming a diagnosis of narcolepsy: the polysomnogram (PSG) and the multiple sleep latency test (MSLT). The PSG is an overnight test that takes continuous multiple measurements while a patient is asleep to document abnormalities in the sleep cycle. It records heart and respiratory rates, electrical activity in the brain through electroencephalography (EEG), and nerve activity in muscles through electromyography (EMG). A PSG can help reveal whether REM sleep occurs at abnormal times in the sleep cycle and can eliminate the possibility that an individual’s symptoms result from another condition.

The MSLT is performed during the day to measure a person’s tendency to fall asleep and to determine whether isolated elements of REM sleep intrude at inappropriate times during the waking hours. As part of the test, an individual is asked to take four or five short naps usually scheduled 2 hours apart over the course of a day. As the name suggests, the sleep latency test measures the amount of time it takes for a person to fall asleep. Because sleep latency periods are normally 10 minutes or longer, a latency period of 5 minutes or less is considered suggestive of narcolepsy. The MSLT also measures heart and respiratory rates, records nerve activity in muscles, and pinpoints the occurrence of abnormally timed REM episodes through EEG recordings. If a person enters REM sleep either at the beginning or within a few minutes of sleep onset during at least two of the scheduled naps, this is also considered a positive indication of narcolepsy.

It does seem that every case is different. Some people can have narcolepsy with cataplexy and others have just narcolepsy. People vary greatly in levels of symptoms, that being one of the reasons it is difficult to identify by GPs. Following a review of the results of your sleep study your consultant will discuss treatment options with you. There is currently no cure, but advances are being made, and with the correct medication, diet and lifestyle changes the condition can be managed.