The Endless Search for a Diagnosis

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

DT

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11 thoughts on “The Endless Search for a Diagnosis”

  1. I’m now chasing hormones and infectious causes. But I am taking a break from appointments. A little self treatment while I get other things settled. Good luck! 8)

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  2. I accept that I have CFS, but I find that seeing more doctors makes me depressed, yet it is impossible not to see them. I sometimes have to try one, plus there is my GP who I have to see for prescription renewalls and is not superly empathetic but the best of a bad lot.
    National CFIDS Foundation newsletter helps me with information, and dealing with these unknowns you describe, I recommend you suscribe to that as a doctor with this. It only has a limited presence on the web, the membership is a postal newsletter.

    It comforted me somewhat to hear that even doctors have to wait for NHS appointments and deal with these feelings. I thought you were all spared these difficulties.

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    1. It’s perceived as a dubious disease and where I am there are no specialists. Hence very few have given me this diagnosis (other than a shrug of the shoulders) and those that did had few suggestions other than exercise and vitamin supplements.

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  3. Fortunately I had two doctors that believe in CFS which is what it is called here in America. I prefer to call it Myalgic Encephalomyelitis. Even with these caring individuals I am not cured. Most treatments are costly, ongoing, and out of pocket due to lack of insurance coverage. I can no longer afford treatment beyond some herbs and supplements. The high cost of medical care is ridiculous, especially here in the US with no NHS or equivalent.
    Don’t know what you may have tried already. Some people, myself included, get good results with magnesium malate and/or low dose naltrexone for pain. The LDN requires a script and is off label use here in the States.
    Yes, the NCF newsletter is one of the best sources of info about our disease. Part of your yearly dues goes to funding good research. It is run by ME patients whose goals are truth and a cure. Some articles are on their website so you can start to get to know them.

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    1. I prefer ME myself as opposed to CFS given my increasingly widespread pain. I’ve written previously about the cost involved, particularly in the states. I have an ethical problem with charging those kinds of costs given how many people are excluded from receiving a diagnosis let alone interventions. The difficulty is the lack of any sort of common cohesive treatment strategy for this disease. It’s an area I want to discuss in the future in addition to the derided proposal of exercise.

      I’ve certainly tried a fortune in treatment options! I have probably about 50 supplements from carnitine, lysine, arginine and co-enzyme Q10 to things like low dose naltrexone. I didn’t notice any significant benefit from LDN though only took it for about 2 weeks. It’s supposed to be good for inflammation (modulation of cns glial cells) and thus pain. Studies are conflicted on its benefit but hopefully we’ll get a few more. It’s a cheap drug for opiate toxicity reversal, used mostly in ED settings and 95% of physicians I know would never have heard of its off licence use. Might give it a go again given my increasing pain levels though!

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  4. I was missing you, DT. Glad you’ve written again.

    During the first 8.5 years of my illness I pursued a diagnosis. But I don’t live in a metropolitan area, so my choices were automatically limited. There was no way I had the energy to seek help outside my locale. I arranged to see an internist and endocrinologist. When I got to the internist, who’d been recommended as good at investigating and diagnosing, he opened the referring letter and said, ‘Your doctor doesn’t know why you want to see me.” This was from the GP I’d seen over a couple years, who, when I sought help after my collapse, said to me, “these hills are full of people who say they have CFS and sit around smoking dope.”

    When I took my inconclusive pathology results to a former GP, he told me he knew nothing about CFS, but gave me a thick pile of paper from an eminent CFS doc, told me it came from another of his patients, I could pursue it online. I stayed with this GP because I knew he had some background in nutritional and alternative therapies, and because he was the first one to agree to alter my thyroid from synthetic to some other form. In truth, this is the only benefit I’ve gotten from him, the ability to experiment w/ my thyroid until I got the correct type and dosage, by my experimentation. I, not he, eventually arranged for an MRI, and then an appointment with a so-called expert rheumatologist. The rheumatologist assured me that in Australia the only diagnosis is fibromyalgia, not ME. I had no trigger points. I did not even open the letter following the consult, so worthless did I consider this MD.

    Each of the paths I pursued from the online CFS expert put me into another crisis. I was following bits of a few experts, still spiralling downward. Only when I chanced upon a reference to “Gut and Psychology Syndrome” from a comment to an unrelated article, did I find a way out of the dark tunnel into the light. This name leapt out at me, as my nervous system had become so over-wrought that I was considering suicide, due to the impossibility of living in this body. Within 3 days of eliminating gluten my nervous system calmed. And so began my healing.

    From the GAPS diet forum I learned of pyroluria, MTHFR, histamine intolerance, gene testing through 23andme. When I made my way to phoenixrising I found protocols to support my MTHFR and B12/folate issues. I followed a thread re mast cell issues, and was able to uncover and self-treat for this strand of my illness. No MD ever tested me for thyroid antibodies, though I’d been hypothyroid since puberty. By following threads and links to Hashimoto’s I understood this to be my issue, and enacted appropriate response, which for me means iodine is contra-indicated. No pathology tests revealed anything to account for the severity of my condition, including cortisol.

    I’ve been healing now for almost 3 years. Only by being totally preoccupied with following my signs and symptoms, and having enough brain power to continue searching have I made these improvements. At some points I’ve certainly wanted an MD who knows more than I. But as someone pointed out re the B12 protocol I’m following, it makes more sense to follow what a fellow-sufferer has experienced and experimented with than an MD with a theory, or, more typically, info fed by a drug rep. I will seek another GP, as I now consider the mast cell component of my illness potentially dangerous, and want someone to take it seriously. My GP sees the transformation in me, yet seems to somehow dismiss it…some sort of cognitive dissonance.

    I proceed step by step using self-testing (muscle-testing type procedure) to gauge my dosages. And so I’ve continued making progress.

    One of the things I’ve learned from phoenixrising members is that this illness has a tendency toward progressive. I fear for your long-term health when I read of how hard you are pushing yourself. Sending you my best wishes, ahmo

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    1. Hi Ahmo,

      Thanks for the best wishes. Haven’t been so well recently so simply haven’t had much time but still here! There are so many anecdotal treatments/small trials with dubious methodology that it does become trying to find a needle in a haystack after a while. A couple of things stick out though. I’m assuming you had thyroid levels checked re hypothyroidism. If so, antibodies are worth doing, specifically peroxidase, microsomal and thyroglobulin. These can be but are not always associated with autoimmune thyroiditis (most commonly Hashimoto which is painless unlike De Quervains).

      Improvement to gluten would suggest some component of coeliac disease. Have you been checked for this? Anti-TTG has replaced anti-endomysial as the main test and is not far off 97% sensitivity. Coeliac disease tends to correlate with low B12 AND Folate deficiencies. If only B12 is deficient, need to rule out pernicious anaemia or malabsorption/short bowel syndrome. B12 deficiencies can manifest in a number of ways but ultimately leads to neuropathies (often motor and sensation of the dorsal column eg vibration, soft touch). Ultimately you seem to have a few things going on, certainly autoimmune in nature and they likely all correlate together.

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      1. Thx for the response. Really, my intent was to say I’m finished with testing. I clearly have Hashimoto’s and coeliac. I’ve also had to remove gluten cross-reactive, and the list of autoimmune foods. Extremely limited diet, but it’s working for me, as is the B12/folate protocol. Following symptoms and self-treating has relieved me of the burden of doctor-chasing and believing someone out there might be able to fix me.

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  5. I noticed you mentioned not wanting to press the rheumatologist in fear of being labeled someone with psychosomatic problems. Why is it that they can so easily offer up a psychiatric diagnoses based on observation. Yet will not take the patients observations seriously. I mean I don’t know of a blood test to confirm a somatization disorder. Its like if they can’t figure it out you must be crazy. Do they not realize that perhaps medical science has not caught up with the illness? To me it is the height of arrogance and idiocy.

    I mentioned to my GP just the other day that I noticed every time I eat a banana I can set off one of my more troublesome symptoms. Kind of this itchy feeling but can’t scratch it cause it seems to be itchy on the inside. His answer, he offered a anti-psychotic. What? Cause I can’t eat a banana? I told him its my digestion. (I have lost half my body weight so far, 170 – 90 lbs in the first year). He brushed it off and again refused to refer me to a specialist.

    I am kind of on the same page as ahmo. I observe my symptoms and patterns, research them as best I can and self treat. I have made way more headway this way. Any medical treatment I have been offered has only made me much worse mainly because no one seems interested in symptoms only blood tests. Of course it would be nice to find a doctor who listens and is willing to work it through but they are not like that. Its to hard on their ego’s.

    Unfortunately in today’s day and age, conventional medicine is more about power, prestige and money and they have completely lost there way when it come to actually helping someone. Psychiatry has done so much damage to people. If you want your health back a person has to seek information anywhere but with a medical doctor.

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    1. “His answer, he offered a anti-psychotic. What? Cause I can’t eat a banana?”
      Wow, I wish we had a head-bang emoticon here! You’ve really nailed an intractable and tragic theme that comes up over and over again for people w/ ME/CFS/FM. I just joined in others from around the world to send birthday greetings to a 26 yo woman incarcerated in a mental hospital against her will, and that of her parents, in Britain, for ME. I studied behavioral sciences for years, now find my deepest fear is to be labelled mentally ill because MDs don’t know how to treat our physiology. So grateful I have enough cognitive powers to have learned to be my own biochemist. Even if it might prompt someone to label me OCD or hypochondriacal. LOL. cheers.

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