How I explain it to patients is like this: your nerves come from your brain like electric cables, and when your brain sends a signal to the muscles, electricity passes along the cables. When that signal gets to the end of the cable (nerve), there is a small gap for the signal to travel to arrive at the muscle (the neuromuscular junction). Think of it like a postman travelling from the post office with a letter – in this case a letter instructing a muscle to move – and getting as far as the letter box. Usually the postman puts the letter through the letter box and completes a successful delivery. But in MG it’s as if the letter box has been sealed off so the letter doesn’t get delivered – the muscles don’t get the instruction.
When we get a cold or flu, our bodies set up an immune response. In other words, our bodies produce an army of ‘good guys’, or antibodies, to take out the ‘bad guys’, or viral infections. This works well most of the time, but sometimes the good guys get over-zealous and start attacking normal parts of the body. The antibodies go rogue and become bad guys themselves. This is described as an autoimmune condition, so your own immune system is attacking you.
To deal with the condition initially we might have to send in synthetic antibodies to neutralize the rogue antibody that’s causing the problem. This is called immunoglobulin, and means having a drip in your arm for a few days. Alternatively, we can try to suppress the bad antibodies and their rebellious nature with other medication called steroids.
I went back to Joanne and Neil and explained what Alison and I had discussed. They were even more impressed with their daughter than I was. They joked that they would sue their doctor daughter for missing the diagnosis (I shuddered internally; doctors are not fond of jokes about lawyers being called). I outlined the plan for tests and treatment, and we admitted her to hospital for five days of treatment with immunoglobulin.
Joanne responded well to the treatment and I joined in her next Skype conversation to Alison while she was still on the ward.
‘Prof, I’m really sorry if I offended you with my neurology comments a few days ago. I guess you caught me at a bad time,’ she said. Confidence regained, but manners never lost.
‘You must be tired of Australia by now,’ I said. ‘Come and apply for some jobs back home.’
Her mum couldn’t hide her joy, and shed a tear when Alison said, ‘Actually, I was thinking along those lines already, so hopefully …’
18
* * *
Kevin And Aristotle
‘My wife thinks I look like that sad dog from the Tom and Jerry cartoons the kids used to watch on Saturday mornings when they were small. You know the one – sad face, droopy eyes … with a monotone voice that always sounds like he’s depressed?’ Kevin explained. His wife was laughing along with him.
‘It’s true,’ she said. ‘We had to look him up but we both remarked how he was starting to look all jowly, like Alfred Hitchcock, and then we remembered the dog in the cartoon. His name was Droopy and he was always deadpan and looked half asleep. That’s Kevin for the last six months.’
Kevin was only forty-six years old. He spoke quickly and it was hard to decipher exactly what he was saying. He spoke as if he had cotton balls in his mouth, like Marlon Brando in The Godfather. His right eyelid was lying a tad lower than his left, but it was pretty subtle. He saw me watching this and said, ‘You think this is bad. It’s only early in the morning. Wait until this evening – I’ll look like I haven’t slept for days. I don’t feel tired, and work away as usual but, come seven o’clock, I can hardly keep my eyes open. It varies from day to day, and is much better in the morning, but recently I found myself having to repeat everything when talking at work and the straw that broke the camel’s back was when I started to choke on the steak and chips when I was out one night.’
He appeared well, if a little forlorn-looking, but his voice sounded slurred – as if he had had a few drinks that morning. He assured me he hadn’t before I even had a chance to ask. Clearly this was an accusation that had been levelled at him before.
I held a pencil up and asked him to follow it with his eyes while keeping his head still. There was no movement and I thought he was not getting it and repeated the instructions a few times. ‘I am,’ he said, with an air of exasperation. His eyes hardly moved at all.
I held the pen up towards the ceiling and asked him to hold his eyes up ‘towards heaven’. He tried his best and, after a minute or so, the right eyelid started to fall slowly, like a window blind being lowered. The left eyelid soon followed suit such that, within another minute, both of Kevin’s eyes were practically fully shut.
I examined his arms and legs: they were fine, reflexes responding well and good strength throughout. I gave him a glass of water and asked him to hold some in his mouth for a moment before swallowing so I could stand back and see the effect. Then I instructed him to swallow it back and as he did so the clear fluid came spurting out of his mouth as he coughed it back up and his eyes reddened. ‘Shorry about that,’ he slurred. Although his wife laughed at the mess, I could see she was worried. I explained that I was pretty sure what it was and that I should be able to confirm it with a few tests.
I got a large cube of ice from the hospital canteen and made him look up once more. As soon as his eyelids tired and the eyelids dropped, I placed the ice cube over the right eye and asked him to hold it there for a minute. We waited. He did not complain about the cold torture I was inflicting upon him. When we took the ice away, the eyelid was almost completely open again.
‘That’s amazing,’ he said. ‘But does that mean I will only see properly if I keep my eyes on ice in the future?’
It is touching to see people bear so much, as Kevin had for the preceding weeks and even months, and be so fearful, and still be able to make jokes. I ordered some blood tests and said I’d organize a scan and some electrical tests, but reassured him that what I thought he had was treatable and he exhaled with relief.
‘So, it’s not motor neuron or MS?’
‘No, I think you have a fairly rare condition in which the wires to the eyes are OK. The muscles of the eyes are OK. The problem is the connection between the wires and the muscles, called the neuromuscular junction.’
He looked at me quizzically and I gave him my ‘postman’ explanation. In Kevin’s case I believed that myasthenia gravis explained his droopy eyes, difficulty articulating his words and problems swallowing. Aristotle Onassis, Jackie Kennedy’s second husband, could be seen with similar droopy eyes in certain photographs. It is believed that the condition eventually affected his breathing, complications from which ultimately killed him.
‘I wouldn’t mind his money but he can keep his illness,’ Kevin said wryly.
The electrical test I arranged is called an electromyogram, in which a fine needle is put into the affected muscles and the signals are recorded to see how strong they are. When Kevin’s muscles were stimulated, for a while they worked well enough, but then the signals became weaker. It all served to confirm the diagnosis.
Kevin’s slurred speech and difficulty swallowing certainly could indeed suggest MND. He was overjoyed to know that his condition was definitely myasthenia – his worst fear had been that he would end up ‘like that Stephen Hawking guy’. Some years ago, the popular Irish sports commentator Colm Murray went public with his diagnosis of motor neuron disease. He used his media profile to increase awareness of the condition and raise money for various research attempts to understand it. His interviews as his condition deteriorated exposed many Irish people to motor neuron disease for the first time and had a huge impact. Since then it has become customary for his name to come up in consultations with men of a similar age to Kevin – that and a fear of what a few of them call ‘super MS’.
It is striking how inattentive we can be when listening to the plight of others. People knew Colm Murray had a very serious neurological disease, but perhaps many did not register that this was motor neuron disease and not MS (hence the ‘super MS’) – or maybe th
ey thought they were one and the same condition.
Thankfully, Kevin’s version of MG was relatively mild and easy to treat. I gave him the ‘good guy’ antibodies for five days, and then a low dose of steroids and some tablets to keep the postmen from being intercepted en route to his eye muscles. He responded excellently to the treatment and was more than happy to put up with the chore of daily medication to avoid accusations of early-morning drinking. The nickname Droopy soon became redundant.
In spite of having the same label, people with myasthenia can experience its onset in very different ways. And when it comes to treatment, some people need just a few tablets, others an intravenous drip, and some need full-on immunosuppressive drugs with all the dangers that come with a compromised immune system such as infections and even some forms of cancer.
Usually, given a label like myasthenia, patients google it. Luckily in Joanne’s case she had her daughter to advise her, because an online search would have revealed the potential devastation the condition can bring. I have seen people become dependent on ventilators for weeks on end, so severe is their form of the disease, and others unable to move their arms or legs or even lift up their drooping heads. It’s not a low-risk condition and I’m always mindful of how badly it can turn out.
The variability in reaction to the symptoms is fascinating too. Joanne’s feeling of panic when she felt accused of drinking too much wine is in sharp contrast to another MG patient I met around the same time who treated the whole thing as no more than an inconvenience (the lack of broadband in his area may have been a blessing – he too avoided terrifying himself on Google). Frank’s myasthenia started when he was driving back to Mayo on the dual carriageway, having come up to Croke Park that morning.
‘It had been a long day,’ he said, ‘and, of course, we lost. But maybe next year …’
He had been up at the crack of dawn that morning, and driven three hours to get there. He didn’t have a drink, but, ever emotional about his adored Mayo, he had roared his head off throughout their near-annual defeat at the latter stages of the Championship. Deflated but accepting, he set off home with his friends around six o’clock that evening.
‘It took nearly an hour to get out of Dublin – how do you ever live in this kip? Anyway, we were trying to make up for the lost time when, around Kinnegad, the lines in the road started to blur. I blinked, and said nothing. Gradually the single lines became double. I thought I was losing it altogether. I drove on, but now there were twice as many cars in each lane in front of me, so I hardly knew where I was.’
‘My God, that was very dangerous,’ I said. ‘I presume you told your friends and pulled the car over?’
‘Ah, Doctor, didn’t we have to be back for the highlights on the telly? I closed one eye, and everything was grand. So I drove the whole way a bit more slowly with one eye closed – not a bother. It went on like that for a few days and I presumed I was just knackered tired. When I saw the number of cows on the farm had doubled, I decided I was either rich or sick, but that I had better ask Gerry [his GP] to have a look.’
I had a letter from Gerry, who called it straight away: he reckoned that Frank had a sixth-nerve palsy. I mentioned earlier that we have twelve cranial nerves on each side of our heads. These nerves come from the brain and control how we see, hear, eat and smell, among other things. Nerve one controls our sense of smell; nerve two allows us to see the world. Nerve five mediates movement of our muscles of mastication and the sensations we feel on our face. Nerves three, four and six control how we move our eyes. Frank’s sixth nerve on the right appeared to be affected, so when he looked to the left, it was OK, but when he looked to the right, the nerve, or the muscle it supplied, failed to work normally and so, instead of one image landing on his retinae, there were two. If he closed his right eye, he ‘took out’ the damaged part of this exquisitely neat system, and two became one once more.
By the time I saw Frank in clinic a few weeks later, he still had double vision. His MRI scans and blood tests were all clear, so though Frank was none the wiser, his doctor and friend Gerry was much relieved to get confirmation that his instinct was right and that his friend hadn’t had a stroke, and didn’t have a tumour.
The key to the puzzle was the variation in the degree of his double vision.
‘I’m grand in the morning; it’s only towards evening that it starts again. I thought I just needed glasses, but the woman in Specsavers says I have 20/20 vision,’ Frank said.
Eye strain when driving after a long day or a late night can make the road seem blurry and we will blink rapidly to try and make our vision sharper and to keep from nodding off. However, if we have myasthenia, the lines in the road will remain blurred, or even appear in duplicate, until the eyes are rested – and will go double again at the first sign of fatigue. This will continue until the myasthenia is treated. So, as Frank’s day went on, the number of ‘letters’ getting through to keep his eye muscle working was diminishing, and eventually the muscle ground to a halt. Happily he responded excellently to minimal medication and he has been grand ever since.
19
* * *
THE AFTERMATH
‘I was lying on a beach in Marbella and I felt awful,’ Susan began. ‘We’d been there a week, and I’d developed the most dreadful runs, so I was convinced I’d got food poisoning.’ Determined not to ruin the family holiday, Susan tried her best to join in the fun each evening, but then got a pain in her lower back. Susan was only forty-three years old, and was proud of her fitness regimen, but by the third day of the trip she had to abandon her usual morning jog. In between trips to the bathroom she wasn’t able to concentrate on her novel, but gamely went to the beach each morning with her husband and two children. Her eldest son had recently turned fifteen and was developing a worrying addiction to his iPhone, and she wanted to keep an eye on him.
She was lying on the sun lounger when she noticed pins and needles in her left foot. She assumed she was just stressed from the persistent diarrhoea and the constant arguing with her son. She jiggled her foot and the sensation abated, but as the afternoon wore on the pins and needles recurred. She only began to panic when her right foot started to develop a similar sensation.
‘It was like there was something crawling under my skin. All I could think of were those weird worms you see people in Africa get infected by and burrowing into their eyes.’
She kept her worries to herself and went for a walk, but the back pain was getting worse. When she lay back down she stumbled over the sun lounger, knocking over her husband’s cocktail.
‘I knew I was in trouble then,’ she later recalled. ‘I could still feel the creepy-crawlies under my skin, and now I was losing the strength of my legs.’
Her husband helped her to her feet, took her arm and they stumbled awkwardly back to their hotel. ‘They must have thought we were both pissed.’
Lying on the bed in her room she started to google her symptoms on her son’s confiscated phone, and was relieved when the results suggested that she might have slipped a disc in her back, causing her legs to be weak. ‘I kept coming up with sciatica. All the websites said I should just rest so that is what I did.’
She slept fitfully, but the next morning when she reached for the bedside light and realized that her hands were now weak as well she screamed in panic. Her son came in from the adjoining room and she told him to google again while her husband called an ambulance. He found MS and motor neuron disease, but didn’t tell her. Eventually, he decided she might have a rare condition: myasthenia.
They went to the hospital and were told she probably had picked up food poisoning all right, and that it was causing a part of her immune system to attack her nerves. They did a scan of her lower back and there was no evidence of a slipped disc. A scan of her brain ruled out MS, the doctors told her.
‘Jesus, I hadn’t even thought of that,’ she said.
Their flights home to Ireland were scheduled for later that evening, and she insisted on
travelling, against their advice. She was pushed to the boarding gate in a wheelchair, feeling scared and miserable, and resolved to go straight to hospital in Dublin. That’s where I saw her early the next morning.
‘Is it myasthenia?’ she asked me straight away. ‘Will you be able to fix it?’
She couldn’t stand without help, and when I asked her to grip my fingers tightly she could barely form fists. Her eyes moved normally, and she was speaking clearly. As I wielded the tendon hammer she was quick to spot I was unable to make her knees ‘jump up’.
‘That looks bad,’ she said, and started to cry.
When I scratched her feet she perked up: ‘I can feel that – that’s good, isn’t it?’
Having tested the motor part of her nervous system, running from the brain to the hands and feet, I moved on to test the wires going in the opposite direction – the sensory nerves. I placed a vibrating tuning fork on the top of her chest and asked could she feel the buzzing sensation.
‘Of course I can,’ she said, indignantly. The blood drained from her face when I placed the same tuning fork on her big toe, then her ankle and then her knee.
‘I can’t feel anything. Are you sure it’s vibrating?’ she cried. ‘Am I looking at a wheelchair for ever, Doctor?’
Susan had Guillain-Barré syndrome, a more usable name than its official one: acute inflammatory demyelinating polyneuropathy. She had picked up a bacterium called Campylobacter jejuni – a common cause of food poisoning, like salmonella – that had caused her diarrhoea. Her immune system rallied to fight it off, but then had become over-zealous, and started to attack her peripheral nerves (the nerves that also run from the brain but lie outside the brain and spinal cord), gradually stripping them of their insulation (called myelin) that allows speedy conduction of signals to and from the brain. When the sensory peripheral nerves became denuded of their insulation she got the horrible pins and needles. As the attack continued her motor nerves became damaged, causing the weakness and loss of reflexes. The creepy-crawly sensation and the weakness was gradually working its way up her body. Without urgent treatment, it could eventually reach her throat, and affect her breathing and swallowing, and thus could be life-threatening.
Just One More Question Page 12
