When my A.S.S Took Over – A Story of Anti-Synthetase Syndrome
I feel there is a certain amount of curiosity with regard to my story and just what is going on. But allow me please to clear something up immediately. The story I am sharing with you now is not my story. If it were my story, I would be the victor. I would be in control. MY story would be exciting, fun and maybe a little scandalous. This story is uncertain, turbulent and not exactly the story I had hoped to tell. This story is the derailing of my story, the end of life as I knew it, hoped it and planned for it to be. So, no, this is not MY story, but I am in this story, it is the story of Me and It, It and I, my body and my cage. This is the story of my A.S.S, Anti-Synthetase Syndrome, the chronic illness I was diagnosed with last year at the age of 24.
My journey with Anti-Synthetase Syndrome began in 2012 before I realised it. The first indications of disease came in the form of skin irritations. Some were easy to ignore like cracking skin on my hands while others were relentlessly irritating and would invite me to sit shivering in a cold bath for as long as I could bear it, a hot, itchy prickly rash that was impossible to cool and would torment me for a few days and then vanish as quickly as it had appeared, usually just when I was considering a dreaded visit to the doctors. It’s not that I was opposed to going to get it checked out but I never really felt that I had the time with so much other things to do at 22. I wrote it off as an allergy I had probably developed somehow along the way and subsequently banished every dog from my presence, convinced they were causing me to break out. (Their innocent betrayed faces still haunt me now as I remember it. Sorry to Buzz, Jamin and Frankie. Not so much to Buddy, you smelled anyway.) Finally, I called it my “stress rash” as I noticed it would appear when I was tired or stressed out and disappear a few days later. I also got a dry, flaky, itchy rash that I attributed to psoriasis which would flare up for a few weeks or months and then clear up again.
Around the same time as this my hands would turn blue in the cold, I’m not sure when this started or when it got worse. I simply got used to it, the numb fingers and toes and the pain that went with it. Gradually I accumulated multiple pairs of gloves and got used to the fact that my feet felt like flippers more often than not and shook off the nagging sense that something was wrong and that soon I would have to do something about it. But for me, it meant permanently hugging cups of tea, wearing furry boots and socks and alternating between hiding my purple/ blue hands away or showing them off as a creepy little party piece.
Reynaud’s Phenomenon is a spasm of blood vessels in the extremities in response to cold or stress stopping the blood flow to that area. The blood flow is unable to get to the surface of the skin and the areas turn white and blue/purple. It can affect the hands, feet, nose and tongue and causes discolouration, numbness, stiffness, throbbing pain, pins and needles. It can in severe cases lead to the development of sores and tissue death.
Something that was more difficult to ignore was also brewing. A knot of tension starting in middle of my back would spread through to my chest and over a couple of hours to my shoulders and neck until I was so stiff and sore I was barely move them, also spreading to other muscles throughout my body. I would get really thirsty and also a dizzy, nauseous feeling sometimes with fainting and vomiting. Then, I would get very cold and be unable stop shivering violently with chattering teeth. At the same time, I would get sudden sharp, stabbing pains in my joints so severe that I would cry out. My legs would sometimes go numb while I was shaking, and the shaking itself could continue for up to an hour leaving behind it widespread pain and a dizzy, nauseous feeling that would last for a few days.
In hindsight I am surprised I didn’t connect the dots and see these seemingly random irritations and disruptions were part of a larger problem, but I am not sure I would have wanted to know. It was still my story, I did not want anything negative to really have an impact on it. Other things I ignored included heartburn after every meal or drink, (I just love spicy food, I probably eat too much of it and my stomach needs to recover) shortness of breath, (how embarrassing I’m getting really unfit, does this mean I’m old now? I should really exercise more) muscle weakness in my arms and loss of flexibility in my legs (again I should really exercise more) severe pains in my joints to the point where my shoulders were so sore I was unable to change gears in my car or tie up my own hair (I must have slept on it funny, I must have walked into something and I don’t remember. Wow, I’m pretty clumsy, I’m always bashing myself around and I don’t even remember it happening) shooting pains up and down my legs and sporadic aches and pains (everyone gets those and I’m on my feet all day every day, maybe I need to get new shoes. Shoes…)
So none of these were enough to warrant a visit to the doctors. Often, things would crop up and bother me for a few days and then go away again for a while and retreat to the back of my mind. So life went on, from the initial onset of the rash I was ignoring the two years that followed saw 5 houses, 6 countries(not nearly enough), 4 jobs, 6 housemates.
My story, my life, so wonderful, so chaotic, so much fun!
Now we are almost at the point of my story that I don’t like so much. If it was a movie I would probably switch it off now and make up my own ending while the world was still at my feet, options were endless, long-term plans were a little scary but also a bit of a joke and anything was possible. But life and the story goes on, only I am no longer the one driving it.
I often think fondly of my “last day of health” and think of how I innocently went about my day with no idea of what was coming next. It was my first proper day off in almost three weeks. I was at this time working as a waitress, spending my days balancing towers of food with customer service smiles, walking miles and was busy with voluntary work on my days off, teaching or helping out at building projects. A full day with the freedom to relax was almost unheard of and such a luxury. The cherry on top was that it was scorching hot even though it was April 2015 and in Ireland. So I walked to the library and got a mountain of books, decided I would have a cheese board, croissant, bread roll for my lunch and pretend to be french for a little while (ok, yes, this was a tremendous amount of food for one person, but yes it was delicious, no do not judge me, and yes, if I were on death row I would possibly choose this for my last supper so it was quite appropriate) A day spent eating and lying in the sun is my idea of absolute bliss.
That evening, my “stress rash” appeared again. Since, I’d been ignoring it for years I wasn’t concerned. Friends had been warning me that the sun seemed to aggravate it but as a sun fanatic I refused to believe something I loved so much could be bad for me. Anyway it would probably only last for a few days, admittedly driving me mental for those days but then it would go away again, no harm done. Except it didn’t go away, actually over the next week and a half it got worse spreading to my whole body burning up with no relief and along with that, I started to swell up. Think tree trunk legs and sausage fingers, think ripping off my own skin but without the stinging itch letting up. Finally I relented and agreed to go to the doctor. For some reason my body decided not to wait for an appointment and wanted to give me a little scare instead. The swelling spread to my neck and throat and I was finding it difficult to swallow. I felt as though my throat was swelling shut and when I looked in the mirror to see if I was imagining it I was greeted by the sight of a huge double chin. This warranted my first trip to Accident and Emergency where a shot of steroids immediately started to bring the swelling down and began to cool the rash. I was sent home with orders to go to the general practitioner the next day and the not very reassuring advice that if my throat started to shut again I would surely have enough time to return.
The doctor immediately suspected an autoimmune condition, noticing my blue hands and hearing about the rash’s tendency to appear and disappear without much pattern. This began the beginning of head scratching (for the medical profession), Googling (for me- I had never heard of Rheumatologists, Autoimmune, Immunologists or any of the possible diagnoses being bounced around) needles, tests, questions and lists as I realised more and more things were probably related and shouldn’t be ignored anymore. I was refered to a rheumatologist but told I would likely have to wait up to two years to be seen and was immediately given a week of prednisolone (steroid) to take at 30mg a day. Finally the rash cleared up, I had never seen anything work on it despite trying various creams. I took a week off work and slept for the entire time, I would wake up to eat (a lot) and then sleep until the next feeding time. When I finished my dose of steroids and went back to work I knew things were not yet right, I had no energy anymore, I was getting weaker, slower. There was a month like this where I realised I was still sick and did not know what the problem was. My GP had run various blood tests which showed inflammation but were not definitive as to give me a diagnosis, I felt like new symptoms were developing every day as I noticed more and more things to add to my list: I developed sores on my fingers including under my nails, my heart started jumping out of my chest, my legs were getting weaker. When I felt them I could feel only swelling and no sign of muscle at all and I was struggling to get out of the car or rise from a seated position.
Auto-Immune Disease is there the body begins to attack itself. The Immune system thinks the body’s own tissues are foreign agents (like bacteria or a virus) and comes out in force to attack them. The body is constantly fighting and also being battered at the same time.
Around the end of May I developed what turned out to be an ulcer on my ankle from Reynaud’s Phenomenon. Even though it was agony and meant crutches, limping and occasionally screaming in pain, it meant I would finally be seen in the hospital. By the time I had my rheumatology appointment I had a double-sided A4 sheet of symptoms that I was hoping to have sense made of. I was given more things to Google when I was told it sounded like Scleroderma or Mixed Connective Tissue Disease with Interstitial Lung Disease and made plans to be admitted for tests, to decide on a treatment plan and hopefully a more definite diagnosis. I was started on Plaquenil a mild immunosuppressant used to treat autoimmune conditions.
Interstitial Lung Disease has various causes and types but in general refers to the inflammation of the interstitium a network of tissue found in the lungs. The interstitium connects alveoli (air sacks) to the blood vessels and allows the gas exchange between blood and air in the lungs. When this is inflamed, the interstitium expands causing the body to struggle to get the oxygen it needs, leading to shortness of breath, a dry cough and other problems. Over a period of time this inflammation can lead to permanent scarring or fibrosis of the lungs.
My hospital stay was a whirl of tests and needles as I thought impatiently “just fix it already.” At this point I struggled to walk any distance without getting tired and out of breath quickly and I needed help to wash my hair because my arms were so weak. Every part of me hurt. Everything was too heavy, too far away and too difficult. It was as though the day before I had run a marathon, ran into a wall, got beaten up and also had the flu all at the same time. I could describe it as an orchestra of pain: stabbing, crushing, aching, squeezing, throbbing, pounding and nagging all at once in a deafening cacophony, instruments of torture, all competing for the spotlight.
Myosistis refers to muscle inflammation. Myopathy is disease of the muscles that causes muscle weakness because muscle fibres do not function properly leading to muscle cramps, stiffness and spasms. Dermatomyositis is a connective tissue disease that affects both the muscles and skin.
By the end of my two-week stay I had been given 3 days of methylprednisolone, one infusion of Rituximab (a powerful immunosuppressive agent) and heard for the first time my diagnosis of Anti-Synthetase Syndrome. After months of waiting, I finally had a name to call “It.” I can’t say that this came as a massive relief to me, when I was told I was so exhausted, fed up and nauseous (from Ritux) that I barely took out my headphones to hear what I was being told. I didn’t write it down immediately, I just did not want to know. So I tuned out and started thinking about the fact that I must be a zebra as opposed to a horse on account of having such a rare illness, and then I started to wonder “What sound does a zebra make?” allowing words like “chronic,” “50% lung function,” “heart inflammation,” “unusual case” and “myositis” to float over my little zebra head. Thankfully one of the younger doctors returned to explain things a little more for me saying he’d taken the time to look it up as he hadn’t heard of Anti-Synthetase Syndrome before my experience either. (Clip Clop. I think that’s what zebras say, or maybe they neigh?) My blood work showed a rare antibody pl7 found in only 3-4 % of patients with Anti-Synthetaste Syndrome, a disease which is only affects approximately one in one million people. Reluctantly I wrote this down and Anti-Synthetase Syndrome already hating the sound of it and the way it tends to get stuck in your mouth. (I get half way through the word “synthetase” and I get a little lost and tongue-tied. I’m sure with a little more practice it will just drip; off my tongue… “Anti- Syn… the…what? Oh never mind”)
Watch me clip clop. Watch me neigh neigh
Looking it up didn’t do anything to ease my mind, I could only find medical articles initially and needed to wade through the difficult terminology to figure things out. There were no pamphlets and at first I couldn’t find any patient friendly sites or experiences and was too exhausted and overwhelmed to search more. I hated “It” entirely. Even the name is ridiculous. I do not know of any other disease that lends itself to such expressions as “my ASS is flaring up again,” “I am getting lost in my ASS” or “I have been officially diagnosed as an ASS.” But such is the beauty of it. I do not think I would get a disease if it were not extremely rare, bizarre and without a cure.
Anti Synthetase-Syndrome is a rare autoimmune disease with variable symptoms including Muscle Inflammation, Interstitial Lung Disease, Mechanic’s Hands, Reynaud’s Phenomenon and Arthritis.
Rituximab is a slow acting medicine and when I returned home from the hospital I fully expected to bounce back to my old life despite what I was being told. I saw no effect from the medicine. I found myself unable to move from the couch and would lie there all day playing Sudoku and trying to ignore the pains in my legs, sometimes even hitting them in frustration. Every time I took a breath I felt sharp pains in my chest and tightness, like my chest was heavy. Every day I would find myself at some point lying flat and unable to move because of the pain in my back, not even to get painkillers or do anything but breathe and wait for it to pass. I couldn’t wear any of my usual clothes because the tightness and the fabrics would irritate my skin making it unbearable. Thus began my baggy “hippie pants” and pajamas phase. Although it was summer I kept hot water bottles on my feet at all times to keep them warm enough to heal my ulcer and prevent new ones forming. And I waited. I waited for the treatment to work. I waited for the days to be over. I waited for people to visit and then I waited for them to leave so I could rest. I waited for things to get better.
Instead, things got worse. I tried to taper prednisolone (from 30mg per day to 25mg per day) and it didn’t go so well. I instantly started to flare again and this time the effects were immediately seen in my lungs. I became very short of breath and needed two rest breaks going up one flight of stairs. I was again admitted to hospital with neutropenia (drop in white blood cells) and a flare up of my disease. The usual symptoms also returned in force but this was secondary in my concern compared to the fact that I was unable to breathe and any exertion even a few steps rendered me gasping for breath. This was in August and I was again given 3 days of methylprednisole along with 5 days of IV antibiotics and started on Cell Cept, yet another immunosuppressive drug. My breathing improved quickly and as soon as I felt a little better I was anxious to return home, certain that things would improve from here.
When I got home it took me a while to realise how much of a set back this had been. Even though things were slowly improving, I was now fighting to come back from an even lower point than I had first been. While I had been able to leave the house occasionally prior to this, I now found that apart from my many, many hospital and doctors visits I didn’t have the energy for anything else. The couch was my domain, but while I had before been able to read or study, now I no longer had the energy or strength in my arms to hold a book. I was unable to concentrate on television, some days it was too much to listen to music with lyrics in it. Some days, the effort of moving my head when someone entered the room was too much to bear. I have spent countless occasions crying at the bottom of the stairs or sometimes part way up, unable to get any further and utterly frustrated at my weak body giving up on life right at the point when I was just beginning to live it. (If you have seen “The Revenant” that should provide an accurate enough mental image of my daily life. Except instead of the Rocky mountains, maybe picture a carpeted flight of stairs. Instead of the snowy backdrop and frostbite, picture me getting food out of my freezer and my hands immediately going numb and blue. Instead of Leonardo DiCaprio picture skinny brunette… without a beard… and slightly better clothes… and to be fair, there weren’t any bears around but in my fight for daily survival I went though much of the same struggles as the lovely Leo.)
(Image Source: https://c2.staticflickr.com/2/1445/26433798662_9857412d90_b.jpg)
I was getting better, until the tapering of prednisolone again. I had been on 40mg a day after my flare up and had gotten to 30mg before I started to flare again. Again it caused immediate problems with my lungs. This time they were not affected by exertion but I would suddenly without cause or warning find myself gasping for breath unable to get enough air into them. This was October time and I found myself back to hospital for another stay and more tests. As the flare progressed, my legs got more painful and felt stretched almost to breaking point by simple walking. I was given another round of Rituximab as a last attempt before going for more a aggressive treatment option.
Amazingly, this started to work and I finally began to make some progress, everything was coming back slowly. At this point I was taking 22 tablets a day, not including supplements which were an additional 7 per day or pain medication which I used as needed. (Definitely far too many tablets to still be lying on the sofa or in bed all day when I should really be galloping around somewhere with the other zebras.) With my hero of a physiotherapist and also with hydrotherapy, my muscles were getting stronger. Working on my muscles was incredibly difficult at the start, even the basic exercises were my entire energy for that day and if I overdid it, it would result in days in bed barely to move and in pain. I would get to a point when exercising where my muscles would become heavy and feel almost numb, refusing to act as I wanted them to and I would know I would have to stop for that day or I would risk causing more inflammation in them or even triggering another flare up. Pain was lessening. I often had the energy to look out the car window now instead of being thrown against the seat. I began to gesture again when I spoke, able to move my hands and animate the conversation. I remembered regretfully that I like to fidget (goodbye poise.) I tried to spend some of the day sitting instead of lying down and gradually built this time up so that by January I had my first day without lying down and also went on my first walk since the previous June.
Getting “better” brought with it another mountain of challenges. I finally now had enough energy to be bored and the walls started to close in around me. Leaving the house was terrifying, I couldn’t trust myself to be able to make it home again, didn’t know if I was making things worse. I could not remember how to hold my handbag, what clothes to wear, even how to walk. My legs were still weak, I now had more of a shuffle than a swagger and every step hurt and I struggled to hide it from my face. From my 6 months of absolute hibernation my social life had become extinct and I found myself unable to remember exactly what to do with my time. Nothing was the same, I felt a stranger in my own life in a world that had moved ahead without me and left me behind.
Now it is June again, and it’s been a year since I was first admitted to hospital and diagnosed. At this point I am not sure if any of the inflammation to my lungs has caused permanent damage or scarring. Some days my breathing is worse than others and simple tasks such as doing the washing up require me to sit down and catch my breath. Since February, it no longer hurts every time I take a breath, only sometimes, but the tightness/ heaviness remains. Myositis can effect muscles used to breathe. Pains in my muscles and joints still move around my body without a pattern that I can recognise, thankfully less severe than before but still constant. My muscles remain weak and rebuilding them is not going as well as I would have hoped, they remain far from what they were but are slowly returning. They are always tender and painful to touch. My skin has improved drastically and most of the old skin issues don’t bother me at the moment, I have mild mechanics hands but as it is mild in my case, it isn’t painful and doesn’t really bother me. I now have new skin problems related to high doses of steroids but that is another issue. I am tired all of the time but do not feel as entirely drained as before. I sleep on average between 10 and 14 hours each night and have been known to sleep up to 16 or more. This may sound indulgent and enviable but it doesn’t really leave me with much of a day left for living. For all my sleeping, I still need to lie down far more often than I would like to admit and often lack the energy for even basic tasks like preparing a meal. I get brain fog where I struggle to follow even a basic conversation and am unable to concentrate on anything. I have migraines every day from medication as well as nausea. I live in fear of infection as with a suppressed immune system these can easily prove to be very serious and even fatal. But I am getting parts of myself back, parts of my life back. I occasionally get days or parts of days where I feel relatively human again and these are so amazing that I can almost always be relied upon to overdo it and pay for days afterwards.
I have again tapered my steroids to 20mg per day and am struggling to get any lower as I begin to flare when I try to and cannot afford another setback. So, this is now. This is the story of my A.S.S and it is ongoing. There is no cure and I am unsure how much of my life I will reclaim before it turns to dust again and the disease flares up. I feel uneasy letting you in at the middle of the story when everything is so uncertain, out of my control and I am unsure of how everything will turn out but I am hoping it will make me feel a little better too, to explain things a little better and be understood. I seem to have weaved parts of my story around “It’s” story, because I guess after all, my story is still being written too and I would resent it being all about A.S.S and not about me.