For a lot of people, CFS is a relatively non-progressive illness. Estimates have been put out but vary around the 10-25% mark of those that have a progressive form. These folks end up being largely bed bound with significant morbidity and reduced quality of life. I’ve increasingly considered myself in this category and its a desperate struggle facing up to the realisation you have something which is going to get worse. I often think, “What will I be like in 2 to 5 years!”
Being a doctor and knowing, let alone encountering, many progressive illnesses means I have always been on a crusade to try and determine if I have an alternative diagnosis other than CFS. This is driven in part by a desire to resort to some treatment which may halt this incessant slide into hell which can encompass CFS. I’m sure many feel the same.
The disorder is one of exclusion, a syndrome identified by a variety of signs. There are many of these in medicine and they can be a tough bunch to identify and many patients are reluctant to accept such a diagnosis. “Surely there is something wrong & can be fixed!” goes through my head fairly often when I’m going through tough periods!
My own experience is that a CFS diagnosis and treatment is a dead end unless you have access to specialist centres. To that end, I have tended to take investigations into my own hand. I recently performed a barrage of blood tests given my ongoing decline. This is a big no no in medicine (self-diagnosis and treatment) but I figured to hell with that. Of my results, a few came back abnormal. Specifically a high LDH, Anti-Jo1 and ACE.
LDH (or lactate for short) is a marker for ischaemia/illness. Leg cramp is caused by elevated levels and is due to an alternative pathway in energy metabolism. Mine was above normal so jumping to conclusions, I assumed that this was due to some muscle metabolic issue. Lack of the ability to make energy sure fit in with everything. My muscles have been cramping and becoming increasingly sore for about a year now. To the extent that I need pain killers to get through the day. Joints feel stiff and its a horrible feeling. This blood test was the first time I could point to something and go, finally! Something objective to prove something isn’t quite right!
Anti-Jo 1 is an auto-antibody. It’s often encountered in polymyositis. Specifically, a subset called anti-synthesase syndrome. This has been high on two occasions both one year apart. Aha I thought! It all makes sense now! Here was an alternative diagnosis to CFS, an illness characterised by muscle myalgia and weakness. There was only one small problem. It’s an inflammatory condition and my inflammatory markers were completely normal. Another blood test called CK (creatine kinase) is also often raised and while it was modestly raised, it was nothing close to the level you’d expect. But nonetheless, hope shone through as I thought I might have unearthed something that at least had a shot at treatment.
The last abnormal blood test was ACE. Some may recognise this as a test used for Sarcoidosis. Not the most sensitive or specific of tests but certainly an avenue worth exploring.
Showed these results to my GP who agreed to refer me to a rheumatologist. She was a professor of Medicine & known as being one of the best at what she does. Appointment was in 4 weeks. In the meantime, I did another no no in medicine. I decided to try treat myself for what I considered was an underlying immune related disease. Both Sarcoid and polymyositis are often treated with steroids so figured why not give them a go. Felt I had nothing to lose at that stage. So off I went, got a fairly high dose of steroids and started munching them like smarties!
Now steroids are a great drug at calming an overexcited immune system (especially for a short course) but they are also one of the worst. A huge number of side effects exist and are often the reason they aren’t the preferred choice for a multitude of illnesses, certainly long term. But undeterred I carried on. I figured to hell with waiting for appointments and dubious doctors, let’s see if this makes me feel any better!
And for a few days, it actually did. But like many things, unfortunately it didn’t last. I took them for about 3-4 weeks, starting with a high but decreasing dose. I blew up like a balloon with the weight gain but figured this was a small price to pay for any improvement! Problem is there wasn’t truly any improvement if I was being really objective about it.
When I finally saw the rheumatologist, i was very hopeful. There’s something therapeutic about seeing any medical specialist. Been down that road many times however and invariably they tend to lead to disappointment. Was scolded for starting the steroids as was to be expected. She mentioned possibly doing an MRI but wanted to see me back in 4 weeks once I was off the steroids & with a chest X-ray (looking for sarcoid) and blood tests. She’d been quite cordial and seemed to take the fatigue etc all seriously. So off I went with a view things might get investigated properly for once.
Four weeks later, I was sitting opposite her again. She seemed a little more rushed this time. Blood tests came back all normal, my anti-Jo1 was negative and the other tests I had done which were high were normal. Chest x-ray was normal. I was now feeling that all too familiar sense of dismissal. She basically said to get back to exercising and that there was no organic disease. Medicine is a small community and there is always a fear you can get labelled as a someone with psychosomatic problems. Thus I wasn’t going to push things further. Thanked her and was on my way.
The experience of seeing many specialists i’m sure is one many of you are familiar with. The dreaded it’s all in your head often follows and I’m not immune to it. There comes a stage however when you get jaded at pursuing a diagnosis, despite knowing that the more likely nothing emerges, the more likely it is CFS. But with a pretty considerable level of medical knowledge comes the ever present rumination on whether it could possibly be something else. Many tests are good at screening for issues but nothing is infallible. So I’m back at square one. It would be something if my symptoms were stable but the progressive nature and in particular the increasing pain does alarm me. I feel myself becoming an increasingly reclused individual, staying home and resting up to preserve what energy remains. Not a great quality of life for those that are in the same boat.
The question remains, where do you go from here? The pursuit of a diagnosis when you have CFS is often a futile one. Results always come back normal. All you have to go on is devastating symptoms despite looking like the picture of health! I have had access to a lot of specialists in 10 years and all have ended in nothing. Very few even suggested CFS. That’s likely changing as the disorder becomes more familiar to physicians but it’s still a dead end for a lot of us.
How is your experience? Do you still pursue possible diagnoses or have you accepted what you have is CFS and have learnt to manage or deal with it as best you can? It would be interesting to hear your valued comments as ever.
Until next time