1THE STUFF OF SUPERHEROES
‘Of pain you could wish only one thing: that it should stop. Nothing in the world was so bad as physical pain.’
George Orwell, Nineteen Eighty-Four
‘An ordinary hand – just lonely for something to touch that touches back.’
Anne Sexton, ‘The Touch’
‘When one of my teeth fell out as a child, my dad made the mistake of telling me that, if I put it under my pillow, the tooth fairy would give me a pound,’ Paul, now thirty-four, tells me. ‘I immediately thought to myself, ‘Oh, great! Well, I’ve got many teeth in my head. That’s many pounds!’ he chuckles. ‘My dad caught me with a pair of pliers, trying to pull my teeth out.’ As I sit at the kitchen table with Paul while his father, Bob, and his mother, Christine, potter around behind us, the horrifying stories of Paul’s childhood pour out. Paul turns to his parents and says, ‘I remember once asking for snacks or crisps, and you said I couldn’t have them because dinner was coming soon. And I just stood there, breaking my own fingers because I couldn’t get what I wanted.’ He mimes bending back his own fingers, and, in my head, I can hear them cracking. ‘Yeah, I did stupid things. Things that, obviously, any normal child wouldn’t dream of.’ And it is obvious, when I listen to Paul and Bob talk, that Paul was anything but a normal child. Indeed, he is not a normal adult – because Paul feels no pain. None at all. He has never felt it. He has no concept of what pain is. He tells me, ‘I have a hard time showing empathy to someone who is in pain. It is hard understanding pain when you don’t feel it yourself.’
The inability to feel pain is the stuff of superheroes, the deepest wish of those tortured by it. But Paul’s inability to sense pain is unfortunately not coupled with super-strength, unbreakable bones and super-healing. I ask Paul to estimate how many times he has broken a bone. ‘It’s got to be in the hundreds, from minor fractures to major breaks. Fingers, ankles, wrists, elbows, knees, thighs, skull – I don’t think there is a bone I haven’t actually broken.’ When I had first come into the house, Paul was already seated at the table. My first impression was of a young man with fair hair, bespectacled – ordinary. If I passed him in the street, I would not give him a second glance. As we chat, I can see that his hands are a little misshapen, but it is not until I go to leave, and he stands up, that I see how short he is. He is perhaps just over five feet tall. ‘The only reason I am as short as I am is because of the damage I did to my knees as a child. I broke the growth plates in my knees on multiple occasions, which stunted my growth significantly.’ And when he walks towards the door as I leave, I see his limping gait, his bowed legs, evidence of endless badly healed fractures.
* * *
Consider your five senses. Place them in order – at the top put the sense you could not survive without, at the bottom the one you would sacrifice first. A fantasy football league; a ranking of players you need to win the tournament. For me, vision would definitely be at the top. Losing my vision, unable to read, to see the faces of friends and family, to look at a beautiful landscape, would be too much to bear. Then hearing: not to be able to hear music or speech would be almost as intolerable. Both these senses allow us to detect the world at a distance, to know the environment beyond the immediacy of our bodies, to derive pleasure, detect warning, to engage in societal interaction and the exchange of ideas and concepts. At the bottom of my list, in line for relegation, would be smell and taste. Horrible to be without the rich world of food, or devoid of olfactory pleasure, but my life would go on. Touch – well, it wouldn’t really compete with vision or hearing, so it sits in position number three.
But take a step back for a moment. Consider a life without touch: the inability to feel the hug of our loved ones, the warmth of the sun on our face, the warning of heat as we approach a fire. However, touch is more than just these sensations. We rely on our touch to walk properly, to feel the undulations and irregularities of the floor under our feet, to know where our bodies are in space, how the position of one hand relates to the other while tying our shoelaces or eating with a knife and fork, to pull the right coin out of our pocket when paying a bus fare. Without touch, even these very simple acts would be impossible. While one imagines touch to be a lesser sense, perhaps the very opposite is true. Perhaps touch is so intrinsic to the act of being, so enmeshed in our existence and our consciousness, that it is almost impossible to imagine a life without this sense. Our language reflects this to a great extent. We describe people as ‘warm’ or ‘cold’, ‘soft’ or ‘hard’, ascribing character or feelings to physical sensations. We use phrases like ‘I am touched by your kindness’, ‘She’s a pain in the arse’, or ‘He can be hot-headed’. The language of life is based much more upon touch than on hearing or vision. But these are not just linguistic patterns. This translates to reality. Experiments have shown that, depending on whether you clutch a hot drink or a cold one in your hands while talking to someone, you will perceive your conversation partner as ‘warmer’ or ‘colder’, and that handling a block of hard wood or a soft piece of material while interviewing someone will influence your perception of them respectively. The warmth of resting on our mother’s chest, the association with a feeling of safety and comfort, pervades the rest of our lives – an intrinsic aspect of human nature and linguistics. Touch links us to those around us, the binding effects of a hug, a touch on the arm, a pat on the back, a caress. Our sense of touch goes far beyond simple electrical impulses triggered in our skin, but is entwined with our emotions, memories, sense of self and sense of others. And seeing the impact of disruption of this sense in many of my patients, I would now certainly not volunteer to lose touch above other senses.
As you will discover over the course of this book, the absence of sensation can be devastating. But an absence of pain – the loudest of our sensations – sounds like a blessing, not a curse. Pain screams its way into our consciousness, blotting out everything else. The blinding sear of stubbing one’s toe, cracking one’s head, or cutting your finger, elbows all other sensations and senses out of the way, demanding immediate attention and action – and, as Paul demonstrates, for good reason. Pain prevents us from injuring ourselves, or at least from making the same mistake twice. We need pain to help us learn to avoid sharp or hot objects, to teach us what in our environment is potentially harmful, and to detect injury or infection. If we do injure ourselves, pain focuses our attention on looking after that part of the body, protecting and immobilising it so that we can repair and heal before we start using it again.
These multiple functions of pain are reflected by its various qualities. One important aspect is knowing where the pain is coming from, localising the site of injury or damage. It is crucial to our survival to know that the agony we are feeling is due to having burned our finger on a hot pan, or from a thorn in our left big toe.
But pain also has an emotional component – that gut-wrenching unpleasantness, that fear – that is a potent driver of learning to avoid it. Without the emotional baggage that accompanies that sensation of hurt, we would be less inclined to learn from our mistakes, to develop strategies to prevent repeat incidents. The risks would be too great, our lives curtailed, the survival of our species jeopardised. In fact, our brains are evidence of the significance of the emotional aspects of pain to our evolution. The areas of the brain involved in this aspect of our experience of pain are in the oldest evolutionary parts of our brains, structures that developed millions of years ago in the evolutionary pathway of animals, preserved in perpetuity, the signature of the utility of pain.
Studies in animals and humans show that multiple areas of the brain are involved in the perception of pain. There is not one single spot, no single area of the brain, where pain is ‘felt’. In fact, the underlying brain mechanisms of pain perception are more like a network rather than a single pathway. This network reflects our understanding of the different aspects of pain: the ability to identify where in the body pain is, termed the ‘sensory-discriminative’ component, and the emotional load, often referred to as the ‘affective’ component. Separate but interrelated.
Information about where the pain is coming from is relayed to the area of the brain involved in all aspects of touch – the sensory cortex. This strip of brain tissue is the location of the homunculus, the brain’s sensory map of the body. When represented in a diagram or model, it shows a grossly distorted figure with overblown lips, tongue, hands and feet, where the density of our sensation receptors is highest and the requirement to discriminate the precise location of any touch is most pronounced. Simultaneously, this information about pain is relayed to even more evolutionarily ancient areas of the brain – those responsible for our emotions and drives; regions of the brain that encode our primitive needs – beneficial ones such as hunger, thirst and sexual desire – and those that are aversive – such as fear, danger and, importantly, pain. And it is here, in the limbic system, the emotional nexus of the brain that resides in the central depths, that the affective component of pain is processed.
One area of the limbic system in particular, the anterior cingulate cortex, is implicated in the unpleasantness and fear of pain, and is a potent driver of the need to avoid pain. Damage to this area of the brain results in a phenomenon termed ‘pain asymbolia’, which is the perception of the precise location, quality and intensity of pain without the emotional context, leaving individuals indifferent to pain and slower to withdraw from it, due to the lack of an emotional driver to avoid it again at all costs. Similarly, destruction of pathways leading to the area of the brain responsible for our body map can result in people experiencing the negative emotional impact of pain without knowing where it is coming from.
* * *
I remember my own children as toddlers – a slip down a few stairs or the sting of a fall an important reminder to watch their step. A smack from their sister: a lesson in how to respect their sibling’s toys. One of my own earliest memories is from the age of three or four. I remember a hot, sunny day, typical for summer in a small village on the fringes of the Black Forest, a few miles from the Rhine, defining the border with France. I had been playing with my friends, cycling around, having fun in the playground, the air filled with excited shrieks of joy. We were like a gang of street urchins, roaming the streets of the village, uninhibited by adult supervision. The heat of the sun was waning, and I recall being tired and hungry, the large, heavy glass door to our block of flats a hurdle between me and my dinner. As I heaved the door open, it struck a bee, which promptly flew at me and stung me on the arm. I can still see the pulsing sac of pain-inducing venom pumping into my skin. Those shrieks of joy were quickly replaced by my howls of agony – and I developed a newfound respect for all things flying and stinging.
But for Paul, these life lessons are entirely alien concepts. As a child there was no clue for him not to do certain things. If anything, Paul sought reward through damaging his own body. ‘I used to do stupid things like jumping down a staircase, or jumping off the roof. There was no downside for me. I didn’t feel any pain. All I saw was everyone around me giving me loads of attention.’ He recalls spells in hospital, surrounded by doctors and nurses, feeling spoilt and fussed over. Perversely, for Paul, injuring himself was a positive experience. His father, Bob, recalls one episode when he found his son standing on the flat roof of the garage. ‘I panicked. And the next-door neighbour said, “You see, Bob, there’s your problem. You know that children play to the gallery. You should say to him, ‘If you want to jump, Paul, go ahead and break both your legs.’ It’s reverse psychology!” I said, “Let’s see. I think you’re right!” So I said, “Paul, if you want to jump and break both your legs, and spend the next two months in hospital, it’s completely up to you.” And straight away, he jumped off the roof and broke both his legs – and spent several weeks in hospital. He loved it.’
The reason for Paul’s complete inability to feel pain is an extremely rare genetic condition called congenital insensitivity to pain, or CIP. Since the moment of his birth, he has never experienced feeling physical hurt – no headache, toothache, or any other ache. Bob reports that Christine, Paul’s mother, was aware of something odd about Paul right from the start. He remembers her saying, ‘Don’t you think it strange that he never cries?’ Bob just assumed that Paul was a happy baby. But one day, when Paul was about ten months old, he was lying on the floor, surrounded by cuddly toys, when Bob came in from work. Bob recalls: ‘Suddenly Christine jumped, because I was standing on Paul’s arm! I hadn’t realised because of all the toys all over the floor.’ Despite an adult standing on him, Paul still didn’t cry. Not a peep.
By this time, Christine was convinced that Paul was very different from other babies. It wasn’t until some time after this incident, when Paul developed some sort of abscess and was taken into hospital, that his condition came to medical attention. The doctor asked if Paul had been crying in discomfort, and Bob told him, ‘My wife has got the crazy idea that he doesn’t feel pain.’ And so began the process of getting Paul diagnosed. Bob tells me, ‘We went to Great Ormond Street Hospital and they put these electrodes on him. They said, “We’ll go up 10 volts at a time. He will feel pain in some part of the body.” They got quite upset because the veins in his face and arms bulged, but they went up to 300 volts and couldn’t find any pain reaction in any part of his body. And I remember saying that it would be nice if he grows up to be a boxer, but of course I didn’t realise the implications of not feeling pain.’
I am curious as to whether Paul’s understanding of psychological pain is also affected; whether the absence of physical pain has somehow hindered the development of those parts of the nervous system that process emotional angst. Has he experienced the pain of heartbreak, the ache of loss? But as far as he can tell, this aspect of his life is the same as everyone else’s. ‘I’ve been told on many occasions, growing up, that emotion and [physical] pain are all linked,’ Paul tells me. ‘I feel touch, I feel emotion, I feel all the other senses. I feel them all except for pain.’ I ask him if he understands on a personal level, or a purely intellectual one, when people talk about the pain of a broken heart or the pain of sadness; whether the empathy he is unable to feel when he sees people in physical pain extends to emotional hurt. But Paul is very clear on this. He has lost several people in his life, family members who have died. The internal ache, the deep and gnawing sense of loss, is something that he is sadly very familiar with. And as we discuss life more broadly, it is obvious that he feels the pain of lost opportunities, unrequited love, unfulfilled dreams. In Paul, there is a disconnect between physical and emotional pain. At first glance, this seems somewhat unfortunate – if you are unable to feel physical pain, perhaps it would be better to lose pain altogether. But without the distress of loss or the fear of it, perhaps there is also no joy from love, no ache from wanting. Without this emotional depth, what would our lives be? Like that of a psychopath, unable to form relationships, incapable of empathising with other people’s lives.
The ability to feel this emotional pain implies that the central networks controlling this aspect of pain sensation are present in Paul, unaffected by his condition. His problem is more fundamental, simply concerning the perception of physical pain itself. Injury to his body and the normal triggers of tissue damage from burning, cutting or inflammation are just not making their way to the brain itself.
The conduction of impulses throughout the nervous system is dependent on a piece of very specific molecular machinery called the sodium channel. Sodium channels exist as molecular pores on the outer membrane of nerve cells – also known as neurones – like the holes of a fine sieve. In contrast to a sieve, however, for the most part these pores remain closed, and are triggered to open only under certain conditions. When triggered, the sodium channel opens, allowing sodium ions and their associated positive electrical charge to flood into the cell, like water exiting the bathtub when the plug is pulled. This small shift in electrical charge across the surface of the nerve cell does not itself result in the transmission of signals, but it is the nature of the trigger that opens the sodium channel that is key to this physiological process that is the keystone of life. The sodium channel has a very particular quality: it detects small changes in electrical charge, with even a small flow of ions in its vicinity causing it to open. And so, the opening of one sodium channel causes the ones next to it to open, thus generating a fall of dominoes and the rapid spread of this electrical impulse along the length of the nerve cell. A Mexican wave, each sodium channel like a spectator waiting for the fan next to them to stand up, conveying a message from one side of the football stadium to the other – or, in this case, from one end of a nerve cell to the other.
Sodium channels exist in a variety of forms, each with subtly different properties and each residing in different concentrations in various parts of the body. Some channels, rather than opening in response to changes in electrical state, are triggered by chemical transmitters, such as those responsible for muscle contraction. In this case, the electrical impulse travelling down the nerve cell causes the nerve endings to release a chemical called acetylcholine. Sodium channels in the muscle fibres sense the acetylcholine and open up, triggering a wholesale chemical response that results in movement. However, it is the sodium channels that are triggered by changes in electrical state that are primarily responsible for the sending of electrical impulses along our nerves.
Some types of sodium channel are more heavily implicated in the conduction of pain signals. Paul’s condition clearly tells us that one particular sodium channel is crucial for the conduction of pain. Paul’s problem is a change in a gene called SCN9A, the repository for the genetic information for a form of sodium channel called Nav1.7. These Nav1.7 channels are particularly concentrated in pain-transmitting pathways, and any change in their function seems to especially influence the processing of pain signals. Paul’s Nav1.7 channels are entirely inactivated. The genetic error in Paul doesn’t simply produce a Nav1.7 channel that’s difficult to trigger, for instance; the mutation Paul carries is so catastrophic that no functional channels are produced at all.
For Paul’s condition to manifest, however, it is not sufficient to have a single mutation. For almost all genes, we carry two copies, one inherited from our mother and the other from our father. So, if we inherit one copy of a gene that produces no channel at all, the second version of the gene should still deliver. While Bob and Christine are both carriers of Paul’s condition, they are completely unaffected because they each only carry one abnormal gene. They were entirely unaware of this, at least until they started a family. But Paul inherited this abnormal gene from both of them, leaving him with no functional Nav1.7 channels anywhere in his body. The machinery fundamental to the transmission of pain impulses is entirely absent in Paul, leaving him completely devoid of pain.
Paul’s very specific loss of molecular function results in a very specific physical dysfunction, while other molecular machinery is left untouched. I ask Paul if he can feel the heat of a spicy curry, or the cooling effects of menthol. While he can feel the heat of chilli, he says it is not unpleasant – there is no burn, no pain, no discomfort associated with it. He recalls being in a restaurant a few years ago with a friend. ‘They had really hot chillies in this restaurant, and I dared my friend to be able to eat one. So he took one bite, and he was sweating and his mouth was on fire. But I sat there and ate five. I felt the heat in my mouth, but by no means was it uncomfortable or painful.’ A rather unfair contest, I think to myself. While the temperature sensors in Paul’s skin, including the sensitive skin of the mouth, are working normally, the associated pain signals have simply vanished – an important illustration of how various aspects of sensation are conveyed almost entirely separately, like parallel train lines carrying different types of passengers to the same destination. And, even more curiously, Paul discovered late in life that he has no sense of smell. In addition to its role in producing pain, the sodium channel he is missing has an important function for smell – a very odd combination of such specific roles.
Through further terrible misfortune, Paul is not the only member of the family affected. He is one of three siblings and, despite miniscule odds of probability, all of them have been affected. If you consider the statistics, it seems almost impossible. Each child born to Bob and Christine has a one-in-four chance of inheriting both abnormal genes, making the probability of three affected siblings one in sixty-four. And the probability of two people who carry an abnormal gene then meeting and having a family is vanishingly small in itself, which is why this condition is as rare as it is, affecting at most a few handfuls of people in the entire world. But Christine knew in her heart, even before Paul’s younger sisters were born, that they too would have the condition.
The effects of this disorder have been devastating for the entire family. For Christine and Bob, it has been awful beyond comprehension. Amanda, their youngest child, did not survive the absence of pain. At the age of thirteen months she succumbed to sepsis, unrecognised by doctors, in part due to the lack of warning signs one would expect to see from a child in pain. As if this weren’t enough, ensuring that their surviving children, Paul and his sister Vicky, remained alive was almost an impossible task. ‘As parents, we’ve been frightened every single day of our lives.’
As we sit at the dining table, I notice that in the corner of the room there is a stone-clad fireplace; it houses a gas fire behind a panel of glass that seals the flames from the room itself. Paul looks over to it and chuckles. ‘One of our games was to hold our hands up against the glass when the fire was on. We used to love to hear the sound of the sizzling of our skin.’ Bob shrugs: ‘They would be laughing in the living room, listening to their hands sizzling like bacon in the pan, blisters all over.’
Bob also recalls the two siblings playing a game in the back garden, hearing them playing on the swings, their laughter filtering through the patio doors. ‘Chris said to me, “Just check on them, will you?” And I said, “They’re okay, Chris, they’re just playing!” But when I went outside to look, Paul and Vicky were completely covered in blood. Vicky had knocked out all her teeth; Paul had knocked out his teeth.’ Both the children needed stitches to their heads, and had black eyes and broken noses. The next day, a family outing to a show resulted in unexpected consequences. The sight of two children, bandaged and bruised, caused quite a stir. By the time the family got home, the police were waiting for them. Bob, with some bitterness, remembers being taken into the dining room by one of the policemen. ‘He said, “Do you think it’s clever for a seventeen-stone man to beat up a child?” And I won’t tell you what he called me.’ Despite Bob’s protestations, he was threatened with arrest, until the police learned the medical background. An apology soon followed, as did a collection for the children from the local police station.
Over the years, Bob and Christine had various interactions with social services, and several threats to have the children removed. For them, the lack of understanding of their children’s condition has been almost as distressing as the lack of pain itself. But perhaps this is not surprising. For almost all of us, pain is intrinsic to the human experience. We are aware of it from our earliest consciousness, and the language of pain is interwoven with our lives, telling us what we can and cannot do, affecting our day-to-day existence. There are medical specialties entirely dedicated to its control and elimination. So while the absence of it is, intellectually, perhaps just about comprehensible, on an emotional level it is totally beyond our understanding. And its rarity means that even most healthcare professionals are entirely unfamiliar with it. Paul describes one episode, a few years ago, when he woke up in the middle of the night. As he sat up in bed, he felt a crunch in his leg, a vibration in his bone. ‘I went to lift my leg up, and as I did so the upper part of the leg came away without the bottom half. The lower leg stayed completely flat on the bed. I could see my skin stretching.’ Paul knew he would have to wait for his flatmate to come home before calling for an ambulance, as he would not be able to come to the door to let them in. When an ambulance crew finally arrived in the morning, Paul announced he had broken his leg. ‘I very much doubt you’ve broken your leg,’ the paramedic replied. ‘You’d be in a lot of pain right now.’ Despite Paul’s explanation, she refused to believe him. ‘I thought, I’m not going to argue with her, so I pulled back the covers and lifted up my leg. She could see the stretching of the skin, and turned pale: “Oh my God, you’ve broken your leg!” I said, “I told you!”’
The lack of understanding of Paul and Vicky’s condition has been tempered by the generosity of strangers. Donations have come in from around the world by people captivated and horrified by the stories of children growing up without this most vital sensation; phone calls from mysterious donors in Saudi Arabia; local charities raising money – all to enable Bob and Christine to try to bring up their children as normally as possible.
Even when listening to Paul explain it to me, the impact of a world without pain is so alien that I still cannot quite understand it. Paul and his sister’s experience of life is so utterly different, fundamentally so, from most of humankind’s, that I am not surprised by Paul’s inability to empathise with people in pain. ‘Like trying to teach a blind man about colours,’ Bob says at one point. Given the rarity of their condition, for much of their lives the only people who truly understood the brother and sister’s world were each other. But with the advent of the internet, Paul has found someone else who understands him. Steven, based in Washington state in the north-west corner of the US, is Paul’s ‘brother from another mother’. Steven also has CIP, and Paul chats to him every week. Their lives are a mirror image of each other. ‘What I’ve experienced is what he’s experienced,’ Paul says: a shared perception of reality as a world without pain. Similar injuries, similar stories from childhood – and similar tragedy. Paul has lost one sister, and, as we chat, Vicky, his other sister, is recovering in hospital, having undergone an amputation of a leg so damaged, so mangled, by repeated injury that it was rendered useless. For Steven, it was the suicide of his older brother, also living with CIP. Repeated fractures of his vertebrae caused him to develop compression of the spinal cord, slowly robbing him of the use of his legs. The loss of a previously active outdoorsy lifestyle – his favourite activities were hunting and fishing – resulted in Steven’s brother taking his own life. For Paul and Steven, identical physical scars and psychological wounds are the signature of a life without pain.
Copyright © 2022 by Guy Leschziner