* * *
It is now almost six years since I first met Adrian, and his narcolepsy and cataplexy remain extremely well controlled on small doses of a medication for his cataplexy and a stimulant to help keep him awake during the day. Despite his condition, he leads a very full and active life. He has an important management role in a bank, works incredibly long hours, has an awful commute and is a father to two young children. His narcolepsy does not get in the way of what he wants to do. He appreciates the humour of cataplexy, and says: ‘If I’m honest, it was never something that really frightened me. I guess when I look back, if I was having these collapses to the extent where I was paralysed, then maybe it should have done. But it definitely started to occur in a social setting, more of a light-hearted sort of thing, and it was brief.’ He has found the journey to his diagnosis fascinating. ‘I’ve actually found this whole four or five years really interesting. I’ve really enjoyed learning about it.’
Talking to him, it is easy to underestimate the impact of narcolepsy, and cataplexy in particular. But even Adrian admits it has had some negative effects. He describes what people with cataplexy often experience, a reining in of your emotions in an effort to prevent attacks. ‘What I have become conscious of – not too much I hope – is almost avoiding that kind of situation. It depends on the scenario. At home, in the comfort of your own home, maybe you’re less controlled. But I do think subconsciously you just start to back away from the things that you know will almost without fail push you over the edge, which is a shame actually.’
For some people, though, cataplexy has life-changing consequences.
* * *
Now in his late forties, Phil is married to Kim, a few years younger, and they have two young children. He lives in a lovely part of England, and is a high-ranking manager in a large telecommunications firm. His life until recently was, to all intents and purposes, as close to perfect as could be. It is clear chatting to them both that Phil and Kim have an incredibly close relationship.
Kim says: ‘We were the couple that everyone hated because we were very close. We spent most of our lives together, in line.’ She reminisces: ‘I don’t think I have ever known Phil to have a mood, ever be unnecessarily grumpy with anyone. [He’s] always ridiculously upbeat, always motivated, [the] life and soul of pretty much anything that happens in life. Top of the list to invite to a party. Always the crazy one doing very stupid things – you know, just that kind of person.’ They have been together since a very young age, and obviously know each other inside out.
A couple of years ago, however, after a family skiing trip, Phil got ill with the flu. It took him a little while to recover. Some three or four weeks later, Kim and Phil were sitting on the sofa, eating dinner while watching television. Phil recalls: ‘I was eating and my eyes were closing. I was almost falling asleep while eating, which is really weird, and Kim noticed it. I didn’t really realise I was falling asleep, and we had a laugh about it because we thought that was pretty odd.’ Kim says: ‘We thought it was just a post-viral thing.’
It wasn’t long before Phil noticed something else very peculiar. ‘It was very occasional. My knees would give way when I was laughing or slightly annoyed about something. Initially it was pretty mild. It was just a weird sensation. I thought it was blood pressure or something. Maybe my blood pressure was not right . . .’
I ask him when he first realised that it was something more serious. ‘I remember going to the house of some friends to have some drinks one night. We were laughing quite heavily, and I remember while laughing my legs were giving way. I had to hold onto the table. I remember thinking to myself, That is truly weird.’ A trip to the GP resulted in him being hurried into hospital. His resting heart rate was found to be low, and it was initially thought that this might be a cardiological problem.
It was the shrewd cardiologist, however, who initially raised the possibility of narcolepsy and cataplexy, and suggested a neurological opinion. I ask Kim and Phil if they were surprised to hear this potential diagnosis, but Kim had already consulted Dr Google. ‘We had already looked into it and kind of established that it might be that ourselves. We googled it and came up with the diagnosis because we literally ticked every box for narcolepsy and cataplexy.’
By the time Phil got to see the neurologist, though, his symptoms had significantly worsened. I can see in his face and hear in his voice his distress at the memory.
It was when I had the real proper full cataplexy – the fall to the floor situation – that I was absolutely certain that this is what I had. It got to the point where I was falling multiple times a day. I was unable to drive. I could not leave the house really; I could not look after the kids. All sorts of things were triggering it. I found I could not be around anybody that was mildly amusing. Even just greeting someone in the street, someone walking up to me saying, ‘Hey, Phil, how are you?’ would have me on my knees.
Kim tells me: ‘It could even be a market research person just saying, “Hey, can I stop you for a second?” and Phil would just be on the floor. We were in town and we walked down to a bookshop and I just heard this slump behind me and Phil was on the floor with people all around him. It was then that we realised, actually, it was not safe for Phil to go out on his own.’
I ask Phil more about his cataplexy. ‘I used to say it is a feeling like someone has just put their hand inside my head and grabbed hold of my brain and squeezed it. As a result of that, my legs would just go. I was fully conscious. I could see and hear, so I knew I had not fainted.’
In many respects he describes marked similarities with Adrian’s cataplexy, but for Phil, the triggers were much more numerous. Unlike Adrian, whose cataplexy was only triggered by his own humour, Phil’s triggers are not only laughter, but negative emotions as well. He tells me of one of the first major cataplectic attacks he experienced.
The kids were messing about. I was shouting at them, and I fell to the floor, literally just collapsed to the floor. But it was not like I had been dropped. It was a slow collapse to the floor. I was lying there, and I could hear the kids laughing because they thought I was just play-acting. I remember being aware, I could see and I could hear. That was quite terrifying. Then within maybe twenty seconds, I was back up on my feet absolutely fine.
But Kim describes even more alarming cataplectic attacks.
He would literally go down like a stone, just hit the floor. There was one occasion, when he was on the exercise machine upstairs, and the children came running downstairs shouting, ‘Mummy, Daddy’s fallen off the exercise machine!’ Another time he got cross with one of the kids, and he collapsed over a high-back chair. He could not get off the chair because he was having a cataplectic attack over the top of it, the chair back smashing into his ribs. He was almost convulsing.
Phil shows me some family videos, of him on a trampoline or playing crazy golf with his kids, suddenly slumping down in partial paralysis. In another video, he is wielding a sledgehammer, trying to knock down a wall in his garden. As he swings back the sledgehammer, he suddenly loses strength. The sledgehammer almost drops out of his hands, and he goes limp. Other triggers would be equally strange.
Oddly enough, a fly, just a housefly flying into the house. I would see the fly and think, Ah, I can’t stand flies, let me get rid of it, and I would get a swat. I would go to swat the fly and I would be on the floor collapsed with a cataplectic attack. I still can’t explain that one. Also hot things. I went to help a friend at a barbecue. As soon as I got near the heat I nearly fell on the barbecue, because for some reason it is perhaps a danger thing. Once, when making a pizza, I nearly fell in the oven. Also things like just getting a brush, a garden brush to brush up the leaves. If I put the brush down to brush, I would have a cataplectic attack. And playing with the kids, you know, throwing a ball, running a bath, that kind of stuff. [There were] so many triggers it was insane.
When even minor day-to-day activities or emotions trigger you to collapse, it must be hard to see
how life can go on.
And it was not just the cataplexy Phil had to deal with. He describes an incident that occurred early on after the start of his narcolepsy. Phil and Kim had travelled in separate cars, Phil with the kids in the back, following behind Kim. Phil says: ‘I was in the car with the kids. It was a convertible, so the roof was off the car, and I fell asleep at a traffic light. The kids woke me up saying, “Daddy, Daddy, the lights are green!” and I was like, Oh my God, that is really odd.’ When they got home, he told Kim what had happened and she immediately took the car keys from him.
The impact of Phil’s symptoms has been life-changing. He was left exhausted, unable to drive, unable to care for or play with his children, unable to leave the house alone. From a man used to being the party animal – sporty, active and successful at work – he was reduced to a shadow of his former self. ‘We knew that Phil was not going to die. It was not like he had cancer or we had found something horrendous that might take his life,’ Kim says. But after the practical aspects of getting a diagnosis of narcolepsy, the reality of the situation began to sink in. ‘It is the illness that sucks the joy out of life,’ Kim continues. ‘Anything that you enjoyed, or was fun, or that brought any kind of nice stuff to your life, it just got sucked out of ours because Phil could not do it any more.’
Immediately after diagnosis, Phil was started on a stimulant to keep him more awake. Some of the older stimulants, the amphetamines, have an additional effect of improving cataplexy, but Phil commenced modafinil, a newer stimulant familiar to students as a ‘mind enhancement’ drug, frequently ordered online to help people study. There was no change to his cataplexy. In fact, it was getting worse.
The standard treatments for cataplexy are antidepressant drugs, which have various effects on brain chemistry, including increasing the availability of serotonin, noradrenaline and dopamine, and some also reduce acetylcholine. Their precise mechanism of action in cataplexy remains uncertain, but boosting noradrenaline increases activity in one of the nuclei in the brainstem called the locus coeruleus, fundamental in the maintenance of muscle tone.
Such was the severity of Phil’s cataplexy, however, that his neurologist managed to obtain funding for a newer drug called sodium oxybate. This drug is related to GHB, a street drug and a drug abused by bodybuilders to add muscle. As a pharmaceutical agent, it is enormously expensive, and therefore hard to get hold of. An incredibly salty-tasting liquid, it is drunk twice a night, and almost acts as an anaesthetic, pushing people into very deep sleep. Sometimes that sleep is so deep that patients experience urinary incontinence, unable to wake to empty their bladders. But it is often very effective, treating poor night-time sleep, the daytime sleepiness, and the cataplexy of sufferers of narcolepsy. How it works remains unclear, though we know it binds to receptors for a neurotransmitter called GABA, and it is postulated that the locus coeruleus is also under the influence of this chemical. The theory is that sodium oxybate therefore desensitises the locus coeruleus to inputs from the amygdala, thus reducing its response to emotional triggers.
Phil’s response to sodium oxybate was immediate. He remembers: ‘It was instant. The night I took it, the next day I woke up and I could feel the difference. More energy. It was astonishing. I have read a lot about other people who take it and they struggle with it and they take a long time for it to work, or they feel sick. [For me, there was] nothing. Literally no side effects. It worked straight away.’
Prior to the sodium oxybate, he was falling down about ten times a day, but with the medication, he dramatically improved. ‘Maybe once or twice a week I’d fall. Most of the time I wouldn’t actually fall, and I was then also learning some coping mechanisms, like holding my arms or getting myself down to the floor, that kind of thing.’ But he was still far from fully controlled. Reluctant to increase the dose of an incredibly potent drug, he was still experiencing significant sleepiness, and the cataplexy was ongoing, albeit much less severe.
When I met Phil, I persuaded him to increase the dose of the sodium oxybate, which was simply not high enough for him. He says of his cataplexy currently: ‘It is very rare now, and if I have it, it is very mild. There is no way I fall.’ He pauses for thought. ‘Actually, my kids have a knack of pushing the limits just that far that I probably don’t fall, but I sometimes have to go to my knees.’ It seems that sometimes the exasperation and frustration of dealing with one of his children, something that any parent will be familiar with, is the one remaining trigger for Phil.
He remains sleepy, however, and there is work to be done with fully managing his symptoms. I ask them both how the condition affects their relationship, and their family life. Kim is disarmingly frank.
I feel like I have had to get used to being married to a different person. The old Phil sneaks back in quite a lot nowadays, which is nice. But this is all dependent on whether Phil has had a good night, how he is feeling during the day, and what he does during the day. But it has massively changed how we are as a couple. We don’t go out very much. Going out for a meal just does not hold the same joy as it used to because he wants to go to sleep immediately after eating. So, going out for a meal is not a pleasurable experience.
She harks back to the days of smugness at their perfect relationship. ‘That incredible relationship now is just very different. My friends all joke and say, “Ha ha, welcome to what married life is really like!’ ” She and Phil agree that the previously happy-go-lucky, life-and-soul-of-the-party Phil has disappeared, at least for the moment. Phil tells me: ‘I would say that I am still the same person that I once was. But I frustrate myself because I still want to do the same things. But I just don’t have the motivation. I don’t have the strength. I come down [from the home office] just to say, “Hello, how are you doing? I’m just going to go for a nap.” And then I disappear again.’
His sleepiness has changed the way he interacts with his children, too. He finds he is more short-tempered and snappy. The previous drive that Phil had has gone. Whereas in the past he would always be the one to get the family out of the house, their roles have switched. Kim says: ‘He is literally the polar opposite of what Phil was before. It was always me saying: “Oh, do we really have to go out again? Can we not just stay in?” and Phil would say: “Oh, come on!” Now he just doesn’t have that desire to do anything, so I find I instigate a lot.’
The sense of loss is palpable, and the uncertainty of what the future holds hangs over them. But Kim adds: ‘Nothing is going to break us apart. It just means that we have to work harder as friends and be very much more mindful of each other. But it is really hard for Phil to do that, because he literally goes through his entire life exhausted.’ I tell them that I am optimistic that we can improve things further.
For both of them, the attitudes of others adds insult to injury. ‘It is an invisible illness. To other people, Phil looks like he is fine and he is normal,’ Kim says.
People don’t understand the condition at all. We struggle with that as well. Phil, bless him, has to explain himself a million times to certain people every single time he sees them, because they still don’t get it. I don’t think that people appreciate how much pressure and strain it puts on you as a family unit, as a couple, as a person dealing with it. And how much effort and energy it takes to manage it all and keep going with your life, your business, your kids, your family, and your friends.
She continues:
People still think it is really funny. We will go to an event or something like our children’s performances, and afterwards someone might joke: ‘Did Phil stay awake during it?’ I ask myself, ‘Why is that funny to you? Why is that even a question? Why do you even consider asking that? If Phil had cancer, would you ask, “Did Phil feel really ill during the performance?” You wouldn’t ask it! So don’t ask. It’s not funny.’
I think Kim’s anger stems from a desire to protect Phil. He is slightly more forgiving. ‘I don’t mind having a laugh about it. I think if they understand it then we can laugh a
bout it. But if you don’t understand it and you are ignorant, then I don’t find it that funny.’
* * *
Looking back at my fascination with that particular page of Neurology and Neurosurgery Illustrated, it is perhaps unsurprising that I have ended up running a large clinic for people with narcolepsy, although my route here has been unconscious, without an active plan. In the days of being in medical school, narcolepsy was seen as a bizarre and mysterious condition, poorly understood, and was often the subject of jokes. Now, sitting in my clinic and seeing patients with this condition day in, day out, the terrible devastation that this condition has, on almost all aspects of life, is all too evident.
Studying this purest of neurological disorders gives us insight into the regulation of normal sleep, however, and the importance of several chemicals and neuronal circuits. It gives me a newfound appreciation for the ability to stay awake. And it also has some implications for people who can’t sleep. Identifying the role of hypocretin in maintaining wakefulness has permitted the development of new drugs to help people sleep. Blocking hypocretin, perhaps by inducing temporary ‘narcolepsy’ overnight, is a potential treatment for insomnia.
For me, narcolepsy is a prime example of how a distinct but tiny lesion – an area of damage – in the nervous system gives us a window of opportunity to understand the workings of the human brain. Through an unfortunate series of factors – a genetic predisposition, a configuration of the immune system, and exposure to an environmental trigger – this disease represents an experiment of nature, and illustrates how the loss of a few brain cells can turn our experience of sleep and wake upside down.
The Nocturnal Brain Page 13