* * *
As with so many aspects of this case, I am later forced to reassess yet again. I lose touch with Robert for quite some time, only to see him again five years later. With the passage of time, it has become clear that Linda’s behaviour suggests more than gaslighting. Rather unsurprisingly, the relationship came to an abrupt end shortly after I last saw him, but Robert remains tormented by her. He has had to go to court several times to seek banning orders against her. She has called his workplace and the police several times, making multiple allegations against him, sexual and criminal. She has been highly manipulative of the police and of the courts. On one occasion, he was pulled over by the police while driving his bus. Apparently, she had called them and accused him of dealing drugs from behind the wheel of his bus. He was soon allowed to go on his way. Clearly, these are not the actions of someone in their right mind, but nor are they the actions of a gaslighter. I question whether Linda’s original psychiatric evaluation was correct.
In retrospect, Robert now admits that he was already a bit suspicious before we first met.
If she had just stuck to me talking about ex-girlfriends, it might have been believable. If she had talked about me having an affair with the neighbour next door, then maybe. But when she started going on about the necrophilia, the bestiality, abusing whole families of either sex, I thought she was away with the fairies. I might be a lot of things, but homosexuality has never had any appeal to me.
However, he was credulous enough to try some of his own remedies. ‘Obviously I tried getting really, really stoned. With a fair amount of booze to go with it. I tried various other drugs that I could get hold of easily. Whatever the latest sleeper was.’
And there clearly remained enough doubt for him to seek more definitive proof. The normal sleep study supplied him with it. He tells me: ‘The sleep test was the first time I had anything I could hang my hat on.’ I ask him if there were any signs of mental imbalance earlier in their relationship. ‘She was an ex-girlfriend of one of my friends. Charming, pleasant, superb cook, and apparently sane,’ he tells me. There were no hints as to what was to come. Robert now thinks that she is ‘just mad’. While he says she has been very scheming subsequently, he now thinks that she genuinely believed that he was saying what she was reporting, that it was not an effort on her part to control or manipulate him.
I imagine myself in his position. In its most generous interpretation, he has suffered due to the mental illness of his partner, but potentially he has been victim to a gut-wrenching evil ruse. I say that it must have been a very traumatic experience for him, but he is rather phlegmatic. ‘More of an annoyance, really. It was a bore. In my life, I have had to deal with a lot, and I simply get on with it. She is just a mad woman.’
* * *
Lessons in the world of medicine come in unexpected forms. Getting a correct diagnosis is always rewarding (and for neurologists, the rarer the better), but it is your mistakes as a doctor that are the most valuable. Robert’s case has taught me caution, to not always take information at face value, and is a reminder of the complexities of human relationships. And while I always keep in the back of my mind that what I am seeing in my clinic is a disorder that may have a basis in my patient’s psychological state, it does not often occur to me that it might actually be the partner’s psychological health that I need to be considering. I suspect that this did not feature strongly in Freud’s or Charcot’s diagnostic thinking either.
It also illustrates our vulnerability when we are asleep – not only as a result of the physical peril of being oblivious to the world around us, but our susceptibility to our nearest and dearest. Sharing a bed with someone is an act of deep trust.
6
WEAK WITH LAUGHTER
‘This 3 9-year-old patient came to see me complaining of a strange symptom,’ reads the referral letter. ‘For the last two years or so now, every time he laughs, and sometimes after violent exercise, he at first feels a strange sensation in his back, followed by a feeling of weakness, and then he suddenly loses his balance and falls down.’ As I read on, the possible causes for the collapses that the patient, named Adrian, experiences go through my mind. Could this represent epilepsy, a faint or a sudden change in cardiac rhythm? Could this represent some damage to the spinal cord? The detail that catches my eye, however, is the reference to laughter.
When Adrian walks into my general neurology clinic, I see a man roughly my age. He is a little shorter than me, with greying hair, smartly dressed in a suit, having come straight from work. He is friendly, open and humorous, but clearly puzzled as to what on earth is going on. He sits down in the chair opposite me, and begins to tell me his story.
He recalls the first time he suffered from one of his collapses. Adrian had driven to see his parents. ‘I had crept up the driveway, where I could see that my mother was in the back garden doing some gardening,’ he recollects. ‘She was next to the garden fence, so I thought it would be really quite amusing to sneak up and hammer on the fence. She would jump and everyone would laugh. Which is what duly happened.’ But that was not all. ‘What I didn’t expect at the time was that I completely slumped to the floor, slowly down the garage doors, and ended up lying in the driveway for I guess fifteen to twenty seconds with a slight case of the shakes.’
He goes on to describe further events.
‘There were a couple of [other] instances – one at a friend’s fortieth birthday party. Admittedly, I’d had a couple of beers, but it wasn’t the end of the evening, and I was perfectly capable of standing. So I was standing next to a low sofa and friends were sat on that sofa. And there’s me being amusing, and I promptly ended up lying across my friends on the sofa. I just ended up in their laps.’
On one occasion he was on holiday with his family, and they were sitting at a picnic bench while his daughter was eating some biscuits. ‘So we were sat there – again me being amusing, so I thought,’ he chuckles. ‘I said whatever it was I said and ended up wiping her Jaffa Cakes off my face, because I just slumped forward and ended up with a face full of cake.’
We talk in more general terms about his collapses. It is clear that he does not lose consciousness in any way. He remains fully aware throughout, and can hear everything and see everything. It is almost as if someone has simply pulled the electric plug. All of a sudden, he loses strength in his body, his muscles go weak, and he slumps to the ground like a rag doll.
It starts off with a sort of stirring feeling. This all happens very, very quickly, and I’ve learned to catch it sometimes. Then [there is] almost a weakness through my legs and my lower back in particular. The strength in the muscles just seems to evaporate. And it doesn’t happen instantly, as if you were fainting or something like that. It’s a slow collapse. It’s not something typically that can be stopped. I just sort of slump to the floor. And I use the word ‘slump’ rather than ‘fall’ and ‘collapse’ because it’s a slow process.
I ask him what happens at the end of an attack. ‘It eases a bit. But it’s not like all of a sudden you spring back into life. It’s more of a coming around.’
The trigger for these events is clear, as his doctor reports in the referral letter. Adrian comments: ‘The trigger is usually when I am – it sounds big-headed – but [when] I am the source of the humour. I’m telling a joke or I’m doing something [funny]. I can sit and watch a comedian, I can laugh myself inside out without any effect at all. But if I were to say something that I felt was very funny to you, there’s a good chance that I would end up on the floor. So it’s definitely self-inflicted, it seems.’
When I later meet Adrian’s wife and daughters, they tell a similar story. His two daughters, Sophie, aged thirteen, and Erin, aged ten, discuss his sense of humour. In response to me asking if their father is funny, Erin responds with a definitive ‘No!’, as I am sure my daughters would say about me. Sophie is marginally more generous. ‘Sometimes,’ she says. ‘It really depends on the context of the joke. Obviously me being ol
der, I have a more mature sense of humour than Erin, so sometimes they are funny. But otherwise, no, not at all.’
Sophie then proceeds to giggle her way through various examples of her poor father’s collapses. She and her sister describe a family trip to the zoo. ‘We had gone to the monkey sanctuary. We were walking down past an enclosure. Obviously thinking he was hilarious, Dad saw a sign that said “blue tit” on it, as in the bird. He made an inappropriate joke.’ (At this point I can see Adrian’s wife behind the two girls desperately trying to suppress a fit of laughter as the two girls cackle at the memory.) Sophie continues: ‘He slumped over the fence [in front of the enclosure], which was quite alarming. I don’t know what the people walking past us thought was going on. Half his body on one side, half on the other!’
* * *
As a medical student, I relied in part on a textbook called Neurology and Neurosurgery Illustrated to revise for my final exams. As I leaf through it today, I cringe, and am struck that this is essentially the equivalent of Neurology for Dummies. As I look more closely, however, I see that the spine of the book is broken at page 103, and I remember being fascinated by its contents.
This single page details a condition known as narcolepsy, a neurological disorder poorly understood at that time. It describes the irresistible desire to sleep in inappropriate circumstances and places, sleep paralysis, hallucinations at the point of drifting off to sleep, as well as cataplexy – ‘the sudden loss of postural tone. The patient crumples to the ground. Consciousness is preserved. Emotion – laughter or crying – can precipitate an attack.’
I recall being amazed that a neurological disorder could manifest in such a myriad of bizarre and surprising ways, and being drawn again and again to this page. I am thankful that my knowledge of narcolepsy is no longer limited to the contents of this book, and as I talk to Adrian, it is very obvious that he is describing cataplexy.
He tells me: ‘My arms will droop, my head will droop, and I usually get a bit of a quiver going on. But I’m able to hear, I’m able to see, breathe obviously. There’s full consciousness, but you’re essentially paralysed, you’re unable to move. And that will vary in length from five to thirty seconds. It depends. But it’s almost always a complete collapse.’
Confusingly, despite him working long hours in the financial sector, commuting up to four hours a day, and being profoundly sleep-deprived as a result, he shows absolutely no other features of narcolepsy – no sleepiness, no hallucinations, no sleep paralysis. Although cataplexy is essentially ‘pathognomonic’ for – very specific and diagnostic of – narcolepsy, there are no other hints that he has this condition. I tell him that, while it sounds like classic cataplexy, we need to do more tests. I organise a blood test, MRI scans of his brain and spine, and a sleep study to look for the characteristic signature of narcolepsy.
* * *
So what is narcolepsy? And how does it cause these strange phenomena? At the time of my medical school finals, this disorder remained much of a mystery. Over the past twenty years, however, our understanding of this disease has been completely transformed. In my mind, this is about as pure a neurological disorder as can be, related to the damage of only a tiny number of neurones deep in the centre of the brain. But the path to this conclusion, the identification of the key to narcolepsy, is intriguing.
The earliest descriptions of narcolepsy with cataplexy date back to the latter half of the nineteenth century, and the term narcolepsy – from the Greek for ‘to be seized by sleep’ – was first coined by a French physician called Gelineau in 1880. Though it was the epidemic of encephalitis lethargica after the First World War, a syndrome thought to have been triggered by the influenza epidemic sweeping the globe, that caused renewed interest in narcolepsy.
Encephalitis lethargica is still a condition that is much debated, but some researchers think that in susceptible individuals the influenza virus triggered an autoimmune response – the body’s immune system directing an attack against itself – that caused damage to parts of the brain controlling wakefulness and movement, causing profound sleepiness and features similar to Parkinson’s disease. (Oliver Sacks’s book Awakenings details the human cost of encephalitis lethargica and the heartbreakingly transient improvements that treatment with anti-Parkinson’s medications had.)
It was a Romanian-Greek psychiatrist and neurologist called Constantin von Economo who identified that, in patients with encephalitis lethargica, the sleepiness seemed to be related to damage in an area called the posterior hypothalamus. He was impressed by the similarities between some aspects of encephalitis lethargica and narcolepsy, in which no such damage could be found. This led him to propose, with remarkable acumen, that the changes in the brain in narcolepsy were in the same area, the hypothalamus, but that these could not be seen with the naked eye. ‘It is very probable, though not proved, that the narcolepsy of Gelineau, Westphal and Redlich has its primary cause in an as yet unknown disease of that region,’ he wrote in 1930.
As is so often the case, identification of the cause of the narcolepsy came in large part from studying animals. In the early ’70s, narcolepsy with cataplexy was identified in dogs. Type ‘dog’ and ‘narcolepsy’ into YouTube, and you will be faced with hundreds of videos of Alsatians, Dalmatians, Labradors and terriers all dropping to the floor when greeted by their owners with a bowl of food, their tails trying to wag through the complete loss of muscle strength their cataplexy brings. Researchers in Stanford began a breeding programme for dogs with narcolepsy, and by the mid-’70s they had succeeded in establishing that narcolepsy was a genetic disease in Dobermans and Labradors. But it was not until advances in the field of genetics in the 1980s and ’90s that, in dogs at least, a region of the genome was identified as being causative of narcolepsy. Subsequent painstaking analysis of the genes in this region led in 1999 to the identification of mutations in a gene of uncertain function – later named ‘hypocretin receptor 2 gene’ – that appeared to cause narcolepsy in Labradors and Dobermans alike.
I cannot stress enough how intensive this sort of work is. I am still traumatised by my PhD, which involved similar work, but I had the advantage of robots to pipette thousands of samples into vials, and the benefit of working at the Sanger Institute in Cambridge, one of the world’s largest centres involved in sequencing the human genome, where much is automated. At that time, it must have been infinitely more difficult.
It was almost simultaneously, by coincidence, that the substance acting on these receptors, hypocretin (also known as or exin), was identified by a team studying genes expressed in the hypothalamus, the very area of the brain proposed by the prescient von Economo as being involved in narcolepsy. We now understand that the neurones producing hypocretin are located in a tiny area of the lateral hypothalamus, but are projected widely throughout the brain. In particular, they link directly to areas of the brainstem involved in the regulation of sleep and wakefulness as well as dreaming.
Narcoleptic dogs do not give us all the answers, however. Very few of my patients with narcolepsy report a strong family history of the condition. The risk of a first-degree relative – sibling, parent or child – of someone with narcolepsy also developing the condition is up to a hundred times greater than that in the general population, but this still means that only about 2–10 per cent of relatives will also have narcolepsy. This is a long way away from what would be expected in a disease caused by a single gene. It implies that, while there may be a genetic component that influences developing narcolepsy, genes in humans are not the whole picture. Indeed, the only human ever to have been found to have mutations in the same gene as our Dobermans is one individual whose narcolepsy manifested at six months old.
Subsequent laborious efforts have shown that, in humans with narcolepsy, hypocretin is without doubt involved, but it is the nature of its involvement in humans that differs from dogs. In the Stanford dogs, there is a genetic error in how receptors for hypocretin are put together; in humans, it is an absence or de
ficiency of the chemical itself. While the receptor is normal, there is little or no hypocretin to bind to it. Both types of defect result in underperforming hypocretin-mediated circuitry, and cause narcolepsy. But in humans with narcolepsy, particularly in those with cataplexy, the neurones producing hypocretin are damaged. On average, people with cataplexy have lost 90 per cent of their hypocretin-producing neurones. Something causes them to disappear, to simply vanish. And measuring hypocretin in the cerebrospinal fluid – the liquor that bathes the brain and spinal cord, extracted through a spinal tap or lumbar puncture – shows that patients with narcolepsy and cataplexy almost invariably have absent or very low levels.
* * *
Adrian is admitted into hospital for a sleep study shortly after our first meeting. One of the diagnostic tests for narcolepsy, the sleep study, involves Adrian being attached to a variety of sensors, monitoring his breathing, heart rate, muscle activity and brainwaves. Overnight, he sleeps as normal a night’s sleep as is possible in this unusual setting. The following day, he undergoes a test called the mean sleep latency test. At two-hourly intervals, the lights are dimmed, and Adrian tries to sleep. He is monitored to see how quickly he drifts off, and what stage of sleep he goes into during these twenty-minute opportunities.
It was the discovery of REM sleep by Aserinsky and Kleitman in the 1950s, described in Chapter 3, that began to give us some insight as to what might cause many of the symptoms of narcolepsy. As we’ve heard, normal REM sleep – the stage of sleep when we dream our story-like dreams – is accompanied by paralysis of almost all of our muscles. While our brains are almost as active as in waking, our bodies are disconnected. Typically, REM is a stage of sleep that we do not enter into until we have been asleep for sixty to seventy-five minutes. Dreaming in short naps is rare, and dreaming as we drift off to sleep equally so.
The Nocturnal Brain Page 11