Jennie's Page about Mixed Connective Tissue Disorder

Mixed connective tissue disease is an autoimmune condition which I've suffered from throughout my life, though it wasn't diagnosed until I was twenty seven. This page is intended to explain something of my own experience with it, and should not be considered as an authoritative guide to what can be a very variable disorder.

For those not familiar with the illness as identified above, the term 'lupus' may be more familiar. Lupus is one part of my condition, and contributes to the muscle wasting which I suffer from, which set in when I was twenty seven. Fortunately, at that time I was working full time as a carer (Donald had just had his bone marrow transplant), so I had no choice but to remain active - I understand that it is this which has helped to preserve my strength and mobility (at least to an extent) thus far. Many people simply give up when they start to feel exhausted all the time, which is a good way to look for an early grave.

Besides the muscles, mctd can cause the immune system to attack various organs. I have problems with my skin and have symptoms which indicate that, in the long term, my heart and lungs may be at risk, though so far I'm doing okay on that front. One thing which blood tests had sugested I was safe from was kidney problems, but this turned out to be incorrect. During December 2006 my kidney function began to deteriorate as my electrolyte balance - the balance of salts which are used to power cellular activity - slid out of kilter. My kidneys swelled slightly as a result, causing me mild backache, but I'd had worse in the past from dehydration so I didn't realise anything significant was wrong; there were no other obvious symptoms. As a result of the malfunction, my blood pressure began to rise, putting still more strain on my kidneys and creating a vicious circle. On Christmas Day I developed a bad headache as this started to put pressure on my brain. On the afternoon of the 27th I took painkillers and went for a nap. The following afternoon, when I was still not awake, Donald became concerned and realised my body was too floppy for me to be in a normal sleep. I then suffered bleeding in my brain - a stroke - and had a fit which stopped my breathing. Donald managed to restart it, then called an ambulance, and I was rushed to hospital, where I remained in a coma for eight days. During this time, and over the course of the following week, my blood pressure was stabilised with medication. I was very lucky and did not suffer serious kidney damage. The stroke caused only minor memory loss and some damage to my eyes. I'll have to monitor my blood pressure daily and take medication for the rest of my life, but I'm very much relieved to be alive. Amlodipine and candesartan keep me stable now.

The most dangerous years with lupus are the early ones, largely because that's the stage at which unexpected things like this can happen. Later on, the disease tends to stabilise, even if it remains damaging. if I can make it through another four years or so in reasonable condition then I might yet live a normal lifespan. Of course, there does remain the risk that the disease will later prompt my immune system to attack my heart and lungs, which could cause serious problems. Both are in good condition, built up by my years as a competitive swimmer, but I do occasionally suffer from tachycardia (a fast and/or irregular heartbeat) caused by pressure on an artery leading into my heart. I also have problems with my gut which are currently under investigation, though they're believed to be caused by my scleroderma rather than my lupus, and may turn out to be easy to treat. Within the next month, after nearly three years of waiting, I shall get the test which may be able to confirm this. I would very much like to stop feeling sick all the time and to be free of the wrenching duodenal pain which often stops me sleeping.

Besides lupus, I also have scleroderma and dermatomyositis. These make things worse for my muscles and also attack my skin. I have the famous lupus rash (delicately called a 'butterfly rash' by US doctors) on my face, though I'm good enough with make-up to be able to hide it most of the time (the darkness under my eyes gives it away); and I also have a tendency to develop itchy and painful hives elsewhere on my skin. Besides this, I suffer from calcinosis, whereby, because I don't process calcium properly at a cellular level, it collects in little lumps against my skin; some of these lumps eventually grow huge (I have a few that are several inches on a side); some liquidise for no discernible reason and leak out through my skin, so that I inadvertently leave tippex-like stains on furniture; and some pierce my skin like vicious little knives, leading to ulceration and sometimes to infection. I've had septicaemia as a result of this, though usually I manage to keep it under control. I've suffered from severe calcinosis for eight years now, and sometimes I've had to remove it myself, without anaesthetic, which doctors have always been patronising about, but I was damned if I was going to lie around in pain unable to walk. When I can't get help, I help myself. As a result of these operations I now have intact skin over most of my knees and can walk relatively well (insofar as my damaged muscles permit), though I'm still eager to make use of professional help. I was scheduled for plastic surgery when I had my stroke, but after that my rheumatologist wouldn't let me take it up, and I lost the place on the waiting list which it had taken me a year to get.

When I was first diagnosed with this illness, I was treated with fifteen milligrams of prednisolone (a steroid known in the US as prednisone) daily. This functioned as an immunosuppressant, calming things down. Of course, being immunosuppressed makes other things different - I have to be careful around infectious diseases, which pose a much bigger risk to me than to most people - and it's made still more awkward by the fact that I have an immunosuppressed partner. Still, the dose I had then got my illness into remission, with a little help from hydroxychloroquine sulphate (or plaquenil, more commonly know as an anti-malarial). This latter caused me further dizziness and symptoms of toxicity appeared when I drank guinness (interesting, since guinness is also used to treat malaria), but I only needed it for a year or so. For maintenance, I switched to a dose of just five milligrams of prednisolone a day. This kept me going for five years in comparatively good health, the priority being stability because I was trying to get pregnant. Unfortunately, the fertility treatment I needed for this is probably what knocked it out of remission again. Oestrogens have often been implicated in triggering attacks of lupus, which is far more common in women and in intersexed people like me (who often have elevated hormone levels). I am now on just one milligram of prednisolone daily, along with seventy five milligrams of azathioprine. All in all, I cope pretty well with my medication, though I need domperidone as well to stop the azathioprine making me nauseous. I take zantac (ranitidine) to counter the indigestion all this causes and make sure I don't get an ulcer. In high doses, the steroids cause me some problems with concentration, make me giddy and, occasionally, make me aggressive (or just less careful of others than I ordinarily would be). I'm lucky to have plenty of support from my partners. I'm also damn glad that I had fun with illegal drugs in my youth, as they've given me a much better idea of how to handle all this.

There is at present no cure for any aspect of mixed connective tissue disease, and it is progressive, so I expect to suffer more severely with it in the future. Already I have to use a wheelchair or walking stick on bad days, and I depend a lot on taxis. I find it very difficult managing on buses, which are always pulling away from the stop before I've had chance to sit down, even when I have my walking stick with me; I've had several nasty falls on them. A bad fall can result in me being unable to walk at all for weeks because, with the calcinosis, it's like landing on a bed of nails. But I don't believe in giving in to these things. The concessions I make are more a matter of practicality, of saving my energy so that I have enough for work and my partners and friends rather than squandering it all just on getting by. Fortunately my writing skills enable me to work from home so that I don't have to exhaust myself with a daily commute (which would sometimes be downright impossible). If my vision recovers sufficiently, I hope to undertake driving lessons and get myself an adapted car to help me get around. If not, Stuart has promised to learn so that he can drive me places.

A lot of people are nervous about having ill friends because they fear they'll catch something, so let me state this categorically: mixed connective tissue disease is not contagious. It can be inherited, though this is still fairly unlikely; it's believed that there's a genetic element which requires specific environmental factors to trigger it. In my case, this was most probably the same hormone rush during gestation which led to me being intersexed.

One of the hazards of long-term steroid treatment, especially when one's walking ability is limited, is that calcium gets leached out of the bones, potentially leading to osteoporosis (brittle bone syndrome). I have osteopaenia, a condition which often develops into osteoporosis in later life. I take a calcium supplement for this, but it's difficult to rely on it when my body doesn't process calcium properly. I've also taken alendronate sodium (as fosamax) which can be quite effective at getting calcium back into the bones but which is really hard on the stomach. This has now been discontinued after studies linked it to necrosis of the jaw, a problem I could do without.

I shall endeavour to keep this site updated whenever new information comes to light. I am doing my best to ensure that it's accurate, and would appreciate any necessary corrections, or new theories, from people working in the field of immunology. I'd like to take this opportunity to thank those who have mailed me to share information.

Please remember that this is not a comprehensive guide to MCTD; if you think you may have any of the symptoms which I have talked about, discuss them with your doctor. You can find more general information on the Mixed Connective Tissue Disease homepage.

I receive some correspondence from people who are feeling suicidal because of their mctd. To them I can say only: don't give up; you might be surprised at what you can live with, and at what you can get used to. There are plenty of other people out there who are struggling to stay alive from one day to another in face of other illnesses. You have a choice, and you are not defined by your illness - however bad it gets, there can be more to life.

For those who think I whine too much about my illness (ie: talk about it openly at all), I'd like to say simply: c'mere and let me show you what the pain is like, and we'll see how long you last before you're crying on the floor. I've stuck this out for thirty four years and I consider myself anything but delicate. If chronic illness teaches one anything it's that willpower is what counts. I've got plenty of fight in me yet.