Arthritis and Musculoskeletal Alliance

Rare But Not Less Severe – The Challenge to Cope With a Rare Rheumatic Disease

Once every two years, EULAR (The European League Against Rheumatism - www.eular.org) invite essay submissions for the Stene Essay Prize.

The object of the prize is to stimulate the interest of the many people with rheumatic diseases in the work of EULAR and especially in the work of their national organisation.

It has been established in honour of the memory of the late Edgar Stene who himself had severe ankylosing spondylitis. He was a great promoter of co-operation between doctors, patients and community workers.

The subject for 2009 was - Rare But Not Less Severe – The Challenge to Cope With a Rare Rheumatic Disease. ARMA receive the UK applications and organise the UK judging.

With the kind permission of the three 2009 UK finalists, Leyla Sanai, Karen Wilson and Angela Graham, we have added their essays to the ARMA website as you will see below. Their essays give a very personal insight and we are grateful for the opportunity to publish their submissions.

The judges came to the difficult decision that Leyla Sanai should be overall winner and her essay has been submitted to the European panel of judges – we wish her luck in the final round.

• Read Leyla Sanai's essay
• Read Karen Wilson's essay
• Read Angela Graham's essay

Rare But Not Less Severe – The Challenge To Cope with a Rare Rheumatic Disease. By Leyla Sanai.

The stranger in the shop regarded my gangrenous fingers with distaste. 'Is it leprosy?' she asked sharply.

'No', I said apologetically, but the woman had edged away, her face creased with disgust.

This is just one of the many challenges involved in having a rare rheumatic disease. Scleroderma is so uncommon that many people have never heard of it. Being a multi-system rheumatic disease, its effects are also often visible, so it can't be hidden from view as many other illnesses can. And its manifestations can seem bizarre. Developing black gangrenous finger tips which drop off may well have got people burned for being witches in the Middle Ages.

I was diagnosed with scleroderma in 1999. In some ways it was a relief. I had been hobbling about with agonizing pain in my toes for months, yet nothing was visible apart from the poor circulation I'd always had. When my blood tests confirmed the diagnosis and, soon after, my big toe tips actually became black, I felt as if at last I had proof that I wasn't imagining it all.

The challenges involved in living with scleroderma can be roughly divided into two groups.

The first group consists of dealing with the disease. I have lost half my right (dominant) thumb and several fingertips. My fingers are curled into permanent flexion, and excruciating ulcers and calcinoses sit like jewels on my fingers, daring to be knocked. The ulcers become infected several times a year, necessitating long courses of oral or intra-venous antibiotics. Even lifting the smallest object is a challenge, and unscrewing any lid is an impossibility. Simple daily tasks like doing up buttons are beyond me. It's so frustrating fumbling with my keys for ten minutes before being able to open my door; lungeing at crumbs on the sofa multiple times before giving up and sweeping them onto the floor.

Most of my large bowel has been removed in three laparotomies. The first was a sigmoid colectomy for a sigmoid volvulus, the second was for adhesions and internal herniation of the small bowel, and the third was a subtotal colectomy for gangrene caused by a main artery of the bowel - the middle colic - becoming permanently blocked due to spasm and blood clot. Dealing with not having a large bowel - or at least, not a large large bowel, ha ha - is one of the biggest problems in my life. I usually need to open my bowels around ten times in 24 hours. If I'm silly enough to indulge in risky behaviour - ie eating soft fruit - that can increase to twenty times. Forget sex and drugs and rock 'n' roll, for me, dangerous behaviour is one too many punnets of raspberries.

The muscles in my forearms have wasted away completely. The same process muct be taking place in my legs because walking feels as if I'm moving a ton of lead. Each stiff step feels like I'm shifting heavy weights. But I have to force myself to take a 5 minute amble every day, because even a day without any walking makes my muscles stiffen and weaken to the point where limping to the bathroom is an effort.

Breathlessness on exertion is another challenge. I used to go running every day when I was healthy. I still dream about running occasionally. But not as often as I dream about work. I had to take early retirement in 2002, and since then, I dream about my previous work at least twice a week. Usually, in my dream, I've discovered with horror that I was meant to be working on a weekend and noone told me, so that I'm faced with the castigation and outrage of the people I've let down. Or, worse still, with their silent disapproval. When I wake up, it's in a cold sweat and to mixed feelings - relief that inadvertently missing a day of work was not real, but intense sadness that I'll never be able to do that work again.

Taking up to twenty medicines a day is also a challenge. The warfarin gives me nosebleeds and bruises, but without it, my white fingers don't re-perfuse, infarcts occur and - sorry to be so graphic - bits of fingertip fall off. The aspirin gave me gastritis and had to be stopped. The clopidogrel contributes to the bruises. Without the maximal doses of various vasodilators I'm on, my fingers and toes would blanch even indoors with the central heating on. But with them, my blood pressure is as low as 80/40, and I feel dizzy and light-headed. I have to go in for infusions of iloprost every second week, Monday Wednesday and Friday, 9am to 5pm. It gives me a throbbing migraine and intense nausea, for which I take codeine and ondansetron. More medicines to deal with the side effects of the medicines.

My appearance has changed. My face is studded with red spots - telangiectasia. I have laser for them, on the NHS, for which I'm very grateful, but for two weeks after the laser, my face is covered with livid purple bruises. One time, after the laser, a British Airways check-in girl left me waiting 45 minutes while she discussed my contagion risk with her line manager. Towards the end of their concerned meeting, they came out of their office and stood several metres away, pointing and whispering. I felt like a zoo animal. They never once asked me what the spots were - I could have dispelled their anxiety easily.

The other group of challenges consists of those involved with other people's responses to my illness. The ignorance shown by the check-in girl above is one example, as is the woman who mused whether I had leprosy. I wish people would just ask instead of surmising. An elderly newsagent who I was paying for photocopies once snatched my money, giving me a filthy look, as if my thumb stump was down to heinous behaviour on my part. Maybe he thought I was a junkie - not that they don't deserve compassion and sympathy. Conversely, the two young men who work in that same newsagent's shop when the old man is away are so kind and helpful that I feel like hugging them every time I'm in there. They'll work the photocopier for me, fold the copies, seal my letters and smile at me with warmth. People are so different.

Yet despite all the challenges, I feel incredibly lucky. My NHS consultants, GP and nurses are wonderful. I am grateful to live in a country where treatment does not depend on ability to pay - in some countries, I'd have had to sell my flat by now. I'm touched by how lovely most people are, and by the support and love of my boyfriend and friends. I may not be physically active but I'm mentally as agile as I ever was, reading books, writing e mails to my friends with my one functional fingertip, enjoying life to the full. Nowadays I have time to appreciate the beautiful colours of an autumn day; russets, golds and glorious oranges lighting up the trees, I have time to smile and chat to workers in the bank or library, whereas before, when I was fit and working, I was always in a frenetic, high-powered rush. Now, I also have the life experience to be able to empathise with people who have been through difficult times or disease. Sometimes it takes a catastrophe to make you a better person, and for that, I thank the catastrophe that is scleroderma.

Rare But Not Less Severe – The Challenge To Cope with a Rare Rheumatic Disease. By Karen Wilson.

I am 46 years old, female, and have Ankylosing Spondylitis. Although I was diagnosed ten years ago it’s likely that I have had it since my late teens. That means I have been in pain for the entirety of my adult life. AS is a bizarre creature. It makes your own body eat bits of itself up, muscle and ligament, and then turns the gnawed bits into bone. No healing allowed. What’s even stranger is that as well as your hips and spine, random parts of your body are affected, like your eyes, stomach, ribcage, hands, feet. Sometimes on bad days it feels like little is spared. AS is quite a phenomenon of genetics.

One of the problems with AS (although all its problems are relative, and alter daily) is that it is not just mostly unheard of but also mostly unseen, and only discernible to everyone else after years of assault: a curved spine, or a fused neck, or a slow, painful, odd gait. But its manifestations up till then are, unfortunately, all ours to contain, and our loved ones to witness. The only evidence of it to the outside world comes with the occasional stint in hospital (colitis), or eye patch (uveitis), or walking stick (a myriad of possibilities). Then, if someone sees you with an eye patch, you get the odd wit (or half of one) asking you where your parrot is.

The thing in AS that binds all its indiscriminate strikes is pain. People don’t believe it’s possible for someone to be in pain all the time. I, and others like me, can assure them that it is quite, quite possible. A few days ago some work was started in the road outside my house; the sound of a pneumatic drill is almost constant during the day. The pain is much like that, only all day, every day, all the time. However, the mind is a remarkable thing. Just like the noise of the drill, after a while you get used to the pain, becoming indifferent to it because you could not function otherwise. Never oblivious but the next best thing.

Sometimes you’re reminded that indifference isn’t enough. Jolted by a sudden noise or the surprise of doing something familiar in a minutely different way and the pain blinds you like a flash of scorching light. Then there are the flare-ups. I tell people I am able to do nothing when one comes. It’s not quite true. To do nothing implies a state of being devoid of energy, activity. Nothing happening. But in actuality the effort of feeling the exponential pain galvanises every shred of will into action that it renders the rest of the system immobile. If I don’t move an inch my body will not be stretched into a mile long of agony. Indifference has retreated, realising it cannot even begin to wage this battle, waiting in the sidelines ready to be called on later when it can actually do something useful.

What is the pain like? Every day, for the last thirty years, different. I still like the idea of the once held belief that Eskimos had thirty different words for snow – if people like me had some linguistic artistry, we would probably be able to come up with as many words for pain, having known all its ghastly shades.

For me it’s not so much about coping with a rare disease, but just about coping. Having a more familiar condition does not necessarily mean we are understood any better. Having any disease does mean that our mechanisms for coping have to adapt all the time, with perhaps one constant: how we live is a delicate balance between our mental and emotional response to how the disease affects us, and our action beyond that response. And of course knowing when to just be. Whatever people like me decide to do in our lives, I believe we should allow ourselves peace. In every other way that we struggle, we need and deserve it.

I recall the day I started to realise that my grimly-held philosophy of not making AS part of my identity was patent nonsense. Whether I liked it or not, or was aware of it or not, life was not separate to the AS but wrapped up by it and in it. I was sitting facing my rheumatologist, who had asked me to make a list of everything I was doing at that time. In spite of (or perhaps because of) all that I was doing, my flare-ups had increased six-fold in number and duration. On my list was: piano teacher, piano accompanist, sign-language interpreter, MA student, volunteer at a Deaf organisation. On his own list he added: wife, mother, cook, chauffeur, cleaner (I immediately disputed the last).

He told me that I needed to re-evaluate my concept of achievement or I would make myself very ill, that I needed to be on anti-TNF treatment, and that I needed to give it, and me, a chance by divesting myself of as much stress as possible. I was furious. I wanted to tell him that even as an Amish-like wife I would find something else to stress about, like how to scrub my floors, but I didn’t. I went home, thought hard about it all, and gave up everything on my list. I have replaced it, ironically, with Amish-like activities; I cook and bake, I make quilts for loved ones, I read a lot and write a little, I watch the birds from my windows. But I also still play the piano a little and have Deaf friends and I don’t scrub my floors. And I love my husband and daughter for my being able to do all of it.

I am happier than I have ever been. The drilling still continues, but my grinding need to achieve something undefined is not driven by my grinding disease. My quilts, being made with great affection and characteristic (obsessive) attention to detail, will outlive me; my friends will continue to laugh with me; my daughter continues. All of it a peacefully satisfying legacy and achievement.

The anti-TNF isn’t the miracle cure I thought it would be but it’s a start. It’s like plunging into a warm swimming pool, muffling the din, giving you movement which on dry land would be punishing. Perhaps I am one of the truly fortunate among people like me. I have the same marvellous rheumatologist, a just as wonderful specialist nurse and after years of falling by the wayside, I now have a GP worth her weight in gold. I have no doubt that without them I would now slowly be going mad with the din of the drill, wondering why I am the only one hearing it, and why it won’t stop. Maybe one day one of those clever people out there will find a way to make it quiet, for people like me to feel what it’s like to be completely pain-free. I’m not really holding my breath, but it’s a nice, hopeful, peaceful thought. And don’t we all deserve peace.

Rare But Not Less Severe – The Challenge To Cope with a Rare Rheumatic Disease. By Angela Graham.

The rarity of a disease bears no relation whatsoever to its severity. A disease is what it is irrespective of its prevalence but rarity itself can be a key exacerbating factor.

I have Ankylosing Spondylitis, the disease from which Edgar Stene himself suffered. This is an inflammatory rheumatic disease which affects 0.05 to 0.23% of the British population – up to 139,000 people out of 60.5 million¹. It can cause fusion of the vertebrae, making the spine inflexible and may affect any joint, the eyes and other organs. To paraphrase Donald Rumsfeld in the rheumatological field, we have Rare Knowns and Rare Unknowns! There is a significant difference, from a patient’s viewpoint, between a seldom-occurring condition which is familiar to doctors and the public, and one which is both rare and unfamiliar. Difficulty of diagnosis worsens the effects of a disease and makes it much harder to bear, not least psychologically, and it is this psychological aspect on which I’d like to focus.

Where Ankylosing Spondylitis is concerned the average gap between symptom onset and diagnosis in Britain, where I live, is 6 to 9 years – in my case 19 years. During this gap how are individual sufferers to understand what is happening to them? Any suffering is worse if it feels meaningless or causeless or if the meaning offered by experts does not tally with the sufferer’s experience of it. My body is mine, is it not? And my body, mind and my sense of self are so inter-related that a delay in diagnosis or an erroneous one, sets up a conflict between me and my presence in the world. I begin to doubt my very self.

Following a food poisoning episode when I was 24 I was told I had Ulcerative Colitis, a reasonable pronouncement given my symptoms and drastic weight loss. From that point of diagnosis – in this case by a young gastro-enterologist – I was boxed in. No matter what other symptoms I reported to my G.P. over the years there was only one response: a repetition of the diagnosis and an insistence on treating it. While crippling symptoms took hold and the “eye infections” and gastric problems worsened, with appalling fatigue and headaches, no new investigations were deemed necessary. Once an authoritative diagnosis is made, a patient who does not get better under the treatment regime risks being told, as I was, that the “failure to respond” is deliberate. I was subverting my own health. Who does such a thing but the wicked or the mad? There’s not much a state healthcare system can do about wickedness but it can refer one to psychiatrists so various professionals were given the task of plumbing my depths to uncover the roots of my alleged desire to be ill. We didn’t get far.

After fourteen years a new colleague at work persuaded me to push for a review with her former boss, the local professor of gastro-enterology. He established that the original diagnosis had been wrong due to his colleague’s inexperience at the time (the biopsies taken then did not support the diagnosis) and told me that I was also in a minority of patients who could not tolerate the carrier of the sulphasalazine I’d been prescribed. A load lifted from my shoulders! I had not invented nor imagined the horrible reactions. I was not mad!

Or at least not completely. He assured me that I did have some – unidentified - physical problem so he referred me for “physiotherapy” which turned out to be more psychotherapy! A rheumatologist I saw privately told me he was puzzled too and I had better order a wheelchair because soon I would be unable to walk. I was a mother of three, in my thirties.

It is difficult to maintain belief in oneself in these circumstances. If one can’t be trusted with one’s own health how can one be trusted in the family or society? In addition there is either no therapeutic support, or the wrong kind, on offer. Then begins the search for amelioration: the visits to alternative therapists; the expense; the humiliation when these things don’t produce improvement; the family’s puzzlement and despair and the subsequent apparent confirmation that one’s basic stubborn lack of co-operation is unchanged. Does a person like this deserve to be well? Guilt and shame add to the burden of physical symptoms.

Eventually a chiropractor, in manipulating my spine, caused me such unspeakable pain that I passed out. I had become so self-blaming that I didn’t challenge him but then his self-serving “looking the other way” pushed me to beg my G.P for a referral to a specialist. He opted, hesitantly, for rheumatology. Five minutes with a rheumatologist to whom AS was a ‘Rare Known’ and I had a diagnosis. Though shocking in its implications, the diagnosis meant I could begin a journey towards comprehension and symptom management. In this I have found membership of the National Ankylosing Spondylitis Society (N.A.S.S.) invaluable, particularly the weekly exercise sessions and access to information, treatment and self-management techniques. More than anything, it has been a huge support to meet others like myself, whose experiences confirm for me that I was never mad or bad. Through N.A.S.S. I have also used my hard-earned knowledge, in a firm partnership with medical professionals, to develop resources for newly diagnosed patients and to influence health policy.

But not everyone is lucky. One evening a few years ago a member of our N.A.S.S. group noticed someone who had the very stooped posture characteristic of advanced AS. Considerately, he approached this stranger who as a result joined our group and re-commenced his therapeutic journey. He too had been told by a rheumatologist that nothing could be done. Brian (not his real name) was the most deformed of us all though only in his forties. He was socially isolated. He had had to stop working. He was mocked in the street for his crooked appearance. He had become poor. He struggled against depression and mental illness. Yet his dry humour and his determination to help himself earned him the respect and affection of everyone in the group.

Brian died after a night of agony in a police cell. His depression had caused a crisis. The police were called. To restrain him one of them allegedly knelt on his spine. It broke. Paramedics arrived and, unaware, mishandled him. Officers reported that he had howled all night in the cell “like a wolf”.

I think of Brian as I work to promote understanding of AS for professionals and the public as research progresses. The role of disease-specific groups like N.A.S.S., national umbrella bodies like ARMA (Arthritis and Musculoskeletal Alliance) and European networks such as EULAR is essential in linking all who want to help us flourish despite our disease.

www.nice.org.uk/TA143 (section 1, 2.4)