Founders’ stories

Rea’s story – Birdshot troubles

Isn’t it interesting how, when life is absolutely perfect and you couldn’t want for anything more – along comes something that you definitely don’t want, just so you can experience a bit of angst!

So, there I was, aged 51, back in 2005, in the perfect job (Director of Social Services) – the one I had spent my whole life dreaming about – and living an amazing life with my weeks being spent in Winchester, one of the most beautiful cities in the UK, and my weekends in London.

I had a little cottage in Hampshire with its back garden running straight down to the river – breakfasts spent communing with the ducks and days spent in my office in the castle, working with amazing Hampshire people and ensuring that we delivered the best possible social care to all those in need.

Back in my home town, London, for the weekend, I took advantage of the wonderful cultural life and saw a play at Shakespeare’s Globe theatre, followed by a meal. Shortly after the meal, I started to feel very strange, aching bones, dizziness, pounding headache and a feeling that I might just be sick! So I made my excuses and went home, straight to bed. What a Saturday night – was woken halfway through the night with violent vomiting, a headache so bad I thought I was dying and at some stage, I passed out. Woke up several hours later with a huge bruise on my face and feeling very delicate. Spent Sunday in bed and went to work in Winchester on Monday, still feeling very fragile. Recovered by Wednesday.

Thought no more about it until I flew to Guernsey on Thursday to learn about how I could deliver better services back in Winchester. On the Friday morning, I kept saying to all my colleagues – ‘this room is a bit dark, isn’t it? Is there a power cut? I can’t see the writing on the papers.’ My colleagues kept telling me that they could see perfectly fine, and I remember thinking: why are they lying to me?

Got on the plane Friday evening and landed in Gatwick and couldn’t find my luggage. I was convinced that it had been lost. All my colleagues found their luggage and made their way back to their homes, and I was left still searching. Went to the desk to complain that my luggage had been lost – very angry – how could it have been lost between Guernsey and Gatwick?

I was shown one lone suitcase from my plane – that’s not it, I shouted. They made me open it. Oh, yes, I said, that’s my property inside the suitcase, but someone has swapped the suitcase – mine was black and red – this one is all black! They thought I was mad. I thought someone had played a really mean trick on me – or just possibly, the flight had done something strange to my eyes.

Went to the station, and couldn’t read the signs for my train. Had to ask. For an independent woman, this was not pleasant. Got on the wrong train with the suitcase that someone had obviously replaced for mine – found I was on the wrong train when an announcement said ‘the next station is Brighton’ – I was supposed to be heading for London. Fed up, tired and with failing eyesight, got a taxi to London. Never mind – tomorrow, it would be back to normal.

Saturday and Sunday, my eyesight got worse. Stop panicking, I thought, it’s all in my mind. Back to Winchester Monday morning, and couldn’t read the reports I was supposed to be finalising. Everything kept blurring. Must be tired, I thought. My colleagues thought differently and forced me straight down to the optician. The optician had a look and said: ‘I don’t know what is going on, but I am sending you straight down to Southampton casualty’. Off I go. See a registrar at Southampton. He looks in my eyes and says: ‘don’t worry, you are just getting old’. OK, I thought, I just need glasses then (never worn glasses in my life, never been ill in my life, never needed even antibiotics in my life, and certainly didn’t believe I was ill).

Back to work and I could see how worried my colleagues were about me, especially as I walked straight into the low beams in my office, banging my head, and then fell down the step out of my office.

That night, in my glorious cottage on the river, I sat watching the television and got really, really scared, as I couldn’t make out the picture. That’s when I broke down and cried – I thought I was going blind. Decided to go to bed and see if a massive amount of sleep would help. Sat down on the bedroom chair, straight on top of a wasp I couldn’t see – no eyesight, sore bum – very bad night.

Next day at work, my colleagues insisted on sending me to a consultant ophthalmologist – good job we were ‘in the business’ and could get access to consultant ophthalmologists – what would have happened to someone who didn’t know how to access the right resources? Off I go to see the consultant – my saviour.

He looks in my eyes and tells me something is going on, but he doesn’t know what. However, he sees inflammation and he puts me straight on steroids to reduce the inflammation – the beginning of another nightmare.

This was September 2005. From then on, I had a variety of tests for the more usual causes of inflammation in the eyes: sarcoidosis, Lyme disease, AIDS, etc, etc. In the meantime, I was having the time of my life – steroids were making me very, very high. I was working 14 hours a day with no problem at all, and then more at home. I thought I was superwoman, and I marvelled in my ability to take three hours of sleep and still be able to perform. My bosses at work thought I was superwoman too!

My staff must have found me intolerable. At 8am, I would tell them about a bright new idea I had thought up overnight. This might be setting up a brand new service, or rationalising a low performing service, or setting up a user panel to help us design new services. By 9am I would be asking them what progress they had made. ‘Off with your heads’ I would cry when they told me they hadn’t even started on my new idea. This, combined with my inability to see (my eyesight was rapidly deteriorating, but the steroids made me no longer care) and my many misinterpretations of what was going on in the work setting because I couldn’t see, read, use the computer, etc, made me a dangerous work fellow, particularly as I was Director. It was a brave member of staff who finally told me how difficultly I was behaving (not that I believed him).

Throughout all of this, I was constantly at the hospital having further tests. Finally, in December of 2005, my amazing consultant (detective extraordinaire) decided to give me an HLA-A29 test. This was a stroke of genius on his part, as I was in such early stages of birdshot that none of the characteristic birdshot lesions were showing.

In January 2006, the test result for HLA-A29 came back positive. A diagnosis of birdshot. What a relief, I thought. Now they know what it is, I will be cured by next week. I vaguely remember my consultant saying to me – this is a chronic disease and we are very early on in the disease process. What a load of nonsense, I thought!

Then started the next nightmare – I was put on high doses of CellCept (mycophenolate mofetil). I reacted really badly to these, and was constantly sick, developed skin problems, night sweats, dizziness, shortness of breath, but I was still high on steroids too. I remember one day, when I was in a committee meeting, presenting to elected members, with the committee room full of the Press. I couldn’t read my script, and I knew I couldn’t let my staff and elected members down, so I improvised. I could see my colleague stiffening beside me, and his foot gently tapped mine to let me know I was off script, but there was not much I could do – so on I went with my improvisation. I could see him getting redder and redder beside me, but I couldn’t see any of the expressions of the Press or elected members, so I assumed I was getting away with it. And I was high on steroids anyway! But worse was to come – I just knew I was about to be sick. Very gracefully, I wound up my presentation, stated that I needed to just check that the video equipment was fully installed, left the room, ran to the toilet, was sick, and returned to the chambers to carry on the debate. Very graciously, no-one ever mentioned this episode to me – did I therefore perform OK, or was everyone just protecting me?

For those of you with birdshot, you know the sheer exhaustion of coping with a toxic medication regime, the side-effects, the deteriorating eyesight, the highs and lows of steroids. Just one episode to illustrate: given I was so high on steroids, I used to go to the gym every day (on top of the 14 hours at work and the hours spent awake in the middle of the night planning). There I was on the treadmill, having done 35 minutes of pounding. But, I can fly, I thought, how very wonderful. So, I speeded up the treadmill and then launched myself over the top and came crashing down on my head. Unfortunately, this gym was in my block of flats in London (and I was on the management committee of the flats). The look of horror on the faces of my fellow gym-goers! I laughed – it’s OK, I said, I can fly! Unfortunately, when you are high on steroids, you often can’t feel pain! I now blush every time I meet my fellow management committee members!

So, I continued to stay up most of the night, continued to lose visual acuity and continued to get sicker and sicker on my medication regime. At the end of 2006 I asked my consultant ‘When will I be cured’? This is a chronic disease, he told me. He also tried very hard to tell me about autoimmune diseases and the part that stress played in them, and suggested I read the book ‘Healing without Freud or Prozac’. An excellent read, but I was on steroids – so I followed this book with a passion – it recommended breathing exercises and meditation, so I added two hours of this to my daily routine of 14 hours work, four hours travel, two hours at the gym and two hours of sleep. I completely missed the part about stress!

Around this time, I started grasping that I may have this disease for life, I may go blind, I may be on medication for the rest of my life, and I was seriously ill with the side-effects of the medication regime. And this medication regime was not improving my eyesight, hence my need to continue on high doses of steroids. So, not only was I potentially wrecking my health into the future, but I was seriously ill (and nearly blind) at the time.

So, now we started talking about different medication regimes, and I started appreciating the impossible situation people with rare diseases are placed in. My consultant has always treated me with absolute courtesy and ensured that I have all the information I need to make decisions, so he equipped me with a range of different medication regimes, warned me about the difficulties of getting any of them and asked me to go away and think and then to get a second opinion from an expert at Moorfields Eye Hospital, London. I did my research, contacted world experts, talked to other birdshot sufferers, got the second opinion and, on the advice of Moorfields, made the decision to try a biological medication that had worked very well on people with less rare autoimmune diseases, and seemed to have fewer side-effects. I was desperate to stop the deterioration in my visual acuity and to feel better.

The long battle started. For anyone with a rare autoimmune disease, you will know that no medication is ever specifically clinically trialled for your disease, and therefore no medication is approved by NICE (National Institute for Health and Care Excellence) for use by the UK’s NHS (National Health Service) in treating your disease. You are also battling the fact that, by its very nature, few people suffer from your rare disease and therefore, there is little ‘clinical evidence’ for the efficacy of various medication regimes for your particular disease. I didn’t know this at the time. I just thought: I will be on new medication soon and my life will return to normal; I can stop terrorising my staff; I can get some sleep; I will stop being sick; I will stop sweating; my skin will stop breaking; the hair all over my face will go and I will lose the two stone I have put on. AND, more importantly, I will start regaining some sight, and no longer have to be helped across the street; escorted when I go out after dark; I will be able to resume driving; know when I am wearing one black sock and one brown sock; win back some of my independence, etc.

So, with the backing of the second opinion from Moorfields (the country’s expert eye hospital), my consultant put in an exceptional circumstances application to my NHS Primary Care Trust (PCT) to get me on to biologics at a cost of some £12,000 a year – expensive, yes, but less expensive than the costs incurred by health and social care if I were to go blind and if I had to give up my job and become dependent on the State. By this time, it was late 2007 and I had already incurred extensive future health concerns with the amount of steroids I had been taking.

Well, can you believe it – my PCT turned me down for the medication. I quote from their letter: ‘The Panel noted the proposed treatment has not been licensed to treat birdshot chorioretinopathy (well, very perceptive of them – nothing has ever been specifically licensed for birdshot or is ever likely to be, because it remains a rare disease). The Panel noted that there is limited evidence to support the use of this treatment (well, only the evidence from one of the country’s leading experts at Moorfields) and that there was no evidence of alternative immunosuppressive drugs being used other than mycophenolate (well, absolutely right – the concern was about steroids, and any immunosuppressive drug would require steroids and this was clearly stated in the application)’.

So, my consultant had to try another immunosuppressant – the fact that CellCept (mycophenolate) is known to have the fewest side-effects and I reacted badly to it didn’t seem to sink in with the PCT. Nor did the fact that it was the steroids that had been severely damaging my health and all immunosuppressants need steroids alongside, whereas biologics don’t. And yes, there is limited evidence in birdshot of biologics’ effectiveness, but there is plenty of evidence for their effectiveness in other autoimmune diseases – and there are limited numbers of birdshot sufferers – and Moorfields had evidence that biologics worked on some of their patients!

So, I tried tacrolimus – and if I thought I was ill before, I thought wrongly. On steroids and CellCept, I was completely mad, but didn’t know it. On tacrolimus and steroids, I was even madder and knew it. I developed a raging temper, I would cry inappropriately, I had a constant headache, I was sick up to ten times a day, I yelled at my staff, I became aggressive and eventually had to be retired on the grounds of ill health in early 2008.

Whilst all this was going on, I was also battling to put in an appeal to the PCT and a formal complaint against the PCT for the grounds on which they had turned me down. I approached my local MP who happened to be a junior health minister and I also approached my local councillors. The local councillors were extraordinarily helpful and made it their business to inform themselves of my illness and all the research that existed: they contacted RNIB (Royal National Institute of Blind People), the Royal College of Ophthalmologists, the UK Parliamentary National Specialist Commissioning Advisory Group (NSCAG), NICE and various other organisations, and became even more knowledgeable than I was about birdshot and about rare diseases.

Finally, in April 2008, the PCT agreed funding on a six-month trial for biologics. Hurrah – but a bit late!!! And only because of the intervention of my local councillors. So now, my birdshot is better controlled, and I have managed to reduce the level of steroids (although I am still on high doses) and I am far less ill than I was, although I still have my good and bad days – I still get every cold going and headaches at least three times a week – but what a relief compared to what I had experienced on the previous medication regime.

Well, the positive thing to come out of all of this is my determination to ensure that nobody else has to go through what I went through. I became a patient expert on my disease, made national and international contacts and went to a Birdshot Conference in Boston, Massachusetts where I met Annie Folkard, another UK birdshot sufferer. Together, we started making waves, joined the Uveitis Information Group and set up a support group for birdshot.

I retain a huge degree of anger even today about my treatment at the hands of my PCT (which was in direct contrast to my treatment by my ophthalmologist). Had I been put on biologics earlier, I would not have had to retire from work; I would not have had to continue taking such very high doses of steroids for such a long time; I would not have lost so much visual acuity; I would not have put myself at such high risk of future bone problems, high blood pressure and heart problems (a drain on health and social care services into the future); I would not have terrorised my staff for such a long time; I would not have alienated all my family members. You do the maths – the health economics – £12,000 per year on my medication, versus the costs of my future potential health care caused by my previous medication regime; the costs of me no longer being a productive member of society (including potential mental health problems from the high doses of steroids); the costs to social care as my visual acuity deteriorated.

Now, work out what happens to someone who has not worked in health and social care and does not understand the system and faces having a rare disease. Firstly – how would they ever have been diagnosed to begin with? Remember, I was told that my loss of visual acuity was due to normal ‘ageing’. It was only when I insisted on seeing a consultant ophthalmologist that I began to have tests to find out what was wrong. Secondly, how would they ever have managed to put together an application for medication and then appeal a decision by the PCT?

The time has come for people with rare diseases (who, together, outnumber those with heart problems and cancers) to receive equitable treatment from the NHS and for health economics to be part of the equation when reviewing medication regimes. It is time for people with rare diseases to get at least ADEQUATE health care!!!!

Annie’s story – Birdshot

It’s hard to think back to the time when I first began to have visual problems and when exactly I realised that something bizarre was going on with my eyes.

I remember struggling to drive along unlit roads and thinking – well, I can’t do that any more, I must be getting old!

I remember floaters driving me mad but the optician told me I didn’t need to worry – I didn’t have a detached retina and my maculae looked fine.

I remember frequent changes of prescription and new glasses and still not being able to see properly.

I remember the horizon going grey, fading into nothingness.

I remember struggling to fill in forms with faint grey boxes that I couldn’t see.

Paperbacks whose print faded into the page.

Difficulty in underground car parks, getting keys into the locks at night, finding light switches, deactivating alarms in poorly-lit areas.

I remember waking up in the night and feeling that there was a black patch over one of my eyes.

I remember going out on a sunny day and being dazzled by the bright lights.

I remember eyes streaming as though I had hay fever – something I don’t suffer from now and never did before.

I remember looking up at the sky and realising I couldn’t see the stars.

And then I think back further and I can remember getting lost trying to navigate at night on French roads – and angry scenes in the car as we drove through the night, because I couldn’t read the signposts at night – nor the map.

I remember getting hopelessly lost on a large poorly-lit French campsite and it taking me literally hours to find our tent. My daughter and husband laughing at the idea that I could possibly have got lost.

I remember trying to pitch a tent in the dark in a forest on my own and having an immense amount of difficulty.

I remember a time when I had a complete sparkling white-out at lunchtime and I could scarcely see to drive the mile or so back to my office, having to sit in a darkened room with the computer off, and luckily the episode passed.

I remember thinking – well, I might as well give up my hobby of digital photography – I just couldn’t look at a computer screen for any length of time, let alone edit a photograph or tell if it was in focus.

I remember not being able to thread a needle or mend a black jumper and thinking well, I can’t ever make anything again or be creative.

I started to solve some of the problems. I bought a good reading lamp. I bought some decent sunglasses. I tried to ignore the floaters. I still didn’t know what was wrong.

Then one day, an optician asked me to do a visual fields test, the first one I had ever done. I was on to my fourth optician by this time. I failed the field test in one eye. I went back to do it again, and again. He offered to refer me. I accepted and three months later I was eventually seen at the local eye clinic.

Unusually, my diagnosis was immediate. I was told I had mild inflammation but that the treatment was worse than the symptoms. A blood test confirmed the doctor’s suspicions. He ordered an angiogram. At the time I couldn’t understand it, but there was a look of excitement on this consultant’s face when he told me my diagnosis. I had no idea then just how rare the condition was said to be, and I was bemused by it all. He invited me back to have photos done as if it was some glamour photo shoot. I was to go back every 8 weeks to check that nothing more was going on and told to get back quickly if I flared. I was in shock – I did not believe the diagnosis. After the first appointment, the consultant refused to talk to me about it. He kept me waiting hours for most appointments and often I saw his junior staff who did not have a clue and were scared to say anything and refused to answer my questions.

I asked for a second opinion at a well-known uveitis clinic. They confirmed the diagnosis and my monitoring continued. Despite everything, my ability to read the eye chart through a pinhole remained good. Still no treatment was called for.

At least by then I knew what to ask for. I got regular ERG tests which continued to say things were getting worse and that I should be put on something to control this gradual deterioration.

Eventually, I was offered immunosuppressants. I said I would think about it and I went for a third opinion. I did not want to take toxic drugs if it was unnecessary, and if I did, I wanted to be sure I would see someone who really understood this type of medication.

The diagnosis was confirmed for a third time and treatment started straight away.

My vision improved and has not got any worse. The choice of medication had to be altered a bit, but we seem to have worked out a solution I can tolerate. My eyes are stable and I am confident I am getting the best treatment available to me for the time being.

I am longing for the day when I can get off the 7mg of steroid I have to take daily and the mycophenolate mofetil. I hope the steroid has not done too much damage to my bones, and my liver and kidneys seem to be surviving.

My husband and daughter seem to think that the steroids make me behave erratically, but they understand and are still putting up with it.

I have maintained my job. Good thing too – I have a retired husband and teenage daughter to support.

I am told that my right eye is permanently damaged because I did not get treatment for it early enough. The left eye has improved and recovered. There can be life at the end of birdshot with the right medication, the right ophthalmologist and a positive attitude. I know I am lucky and my fingers are crossed that it stays that way.

Things that help me:

Good reading lamp
Good sunglasses – Cocoons Fitovers are good if you wear glasses: good polarised lenses, yellow tint
Saline nasal spray – helps steroid-induced sinus problems
Great sympathetic consultant at a hospital that I can get to relatively easily
Excellent service from the local renal unit for monitoring treatment
Sharing information with others who have birdshot and the support I receive from them
If the Birdshot Uveitis Society helps just a few people get through the horror of the initial diagnosis and helps to make a few people realise that there is life after ‘the birdshot diagnosis’ and it does not mean you will go blind – then we have achieved something.