On syndromes and symptoms

When I met my wife, she had Chronic Fatigue Syndrome. But not anymore. But she hasn’t been cured either.

I’m hoping that maybe this post may ‘save’ someone, somewhere, from a syndromey diagnosis.

Back in the day…

She’d seen a number of doctors and had been through treatments ranging from being told that it was all in her head, through to high potency vitamin injections. Some of it helped, but at best seemed to give bursts of energy, rather than really taking the edge off the crashes.

When I met her, the symptoms were chiefly an early-afternoon collapse. She just needed to be flat on her back for half an hour to an hour, to give her some chance of recovering from whatever activity had occurred in the morning. There were some days when this didn’t help much, and when she wasn’t ‘firing on all cylinders’ in the mornings either, but she was generally able to push through and get whatever things needed to be done, done.  But when that crash came, it could hit pretty badly; I still remember my shock at hearing her tell me through tears that, at its worst, it was agony to pick up a pen and write something down.

Soon after we met, I told an insightful female friend about her CFS. She replied, “that’ll appeal to the nurse in you.” It struck me as an odd thing to say, but on reflection I had to agree; caring for someone was demonstrative of, well, care, which I was keen to demonstrate, and it was something I was good at. I don’t know when it happened, but I have to admit that at some time between then and now, the ‘shine’ of my new ‘carer’ role (which was one I set myself up for) wore off – and pretty early on. Recognising that – that the role I’d attached something of my identity to, was actually proving to be something of a facade (not in the sense that it wasn’t genuine, but rather in the fact that it wasn’t as inexhaustible as I really thought it would be) in the face of a continuing condition – was in itself challenging.

And, let me be clear; my wife was far from ever being a needy basket case. In the first months of our marriage she was the bread winner (as she is currently), while I stayed home and did a semi-passable job of house keeping (some of which she’d come home and finish properly), and looking for work in the new city to which we’d just moved. She has never really taken on the “sick role” – she’s always done what’s needed to be done – except to make allowances for herself as needed. I think she’d agree that sometimes she was too hasty to make allowances, and tended to rein in what she was capable of, for fear of crossing the collapse threshold too early, but more often she fell prey to the other extreme of doing too much (and there’s actually some evidence to suggest a link between high-achievers/driven personality types, and an increased incidence of CFS).

You’re pregnant! Twice!

When the news came that we were going to be parents – of twins – we held out hope that there may be a reprieve from the CFS. It had been reported to abate or even to be cured in some cases of pregnancy/childbirth, with some theories including explanations such as the hormonal changes causing some fundamental shift in some system, somewhere…

On the whole, we’re agreed that there was something of a positive effect from the childbirth experience. But really, it’s almost impossible to say; or even, in my case, to remember. Those early months (years?) are a haze in my mind, with one or three foremost memories that have remained (or been reconstructed as) cogent. The most striking for me was the sense of regression I felt a day or two after we brought the babies home from hospital. I remember waking up and yawning, contorting my body as I stretched, and being seized with the feeling that I was an infant, trapped in a body over which I had little control. Whether it was from having spent so much time watching two babies stretching and jerking and crying, or something else, I can’t say, but the sense of identification I felt with them – and particularly with their apparent state of being a consciousness inside a body – was visceral, overpowering and vitally new.

Another memory from the same time, was of waking up and frantically looking for our third child – a triplet who had never existed – who I’d half-dreamt I’d fallen asleep with on the bed and may now be smothering. Interestingly, this was something of a shared hallucination – my wife experienced the same thing; I believe we may both have even engaged in searching in the covers for our third child, at the same time, but I may have invented that memory; as I said, it’s a haze.

Yet another memory was the operation of feeding time: the custom-built U shaped foam pillow that went around my wife’s midriff, allowing both babies to feed at the same time; my supplying her with the enormous amount of water she’d consume while feeding, and watching while I half-consciously considered the ‘water-cycle’ – that I’d be changing their nappies due to some of that water in the not too distant future; wondering if she had actually started falling asleep or whether she was just closing her eyes to focus her will to remain erect long enough to allow the babies to finish their long, long feeds.

In short, we were both zombies for most of that time. And yet I wasn’t. I was working full time then, and managed to code a simple application to streamline my employer’s documentation requirements – including coming to terms with a new coding syntax – mostly between the hours of 10pm and 3am, while taking the midnight feed with a bottle to allow my wife one uninterrupted block of more than (at a maximum) 3 hours’ sleep. And I still managed to go to work and function – very well by all accounts – despite life having been turned upside down. So I think there’s definitely some kind of hidden reserve that’s tapped by the experience of having children – regardless of whether you have CFS or not.

And, quite frankly, CFS itself became less of an issue anyway. Just like everything did. Because now we had kids, two of them, who needed us to do everything for them.

So, in effect, the whole Chronic Fatigue thing fell off the radar in a sense. She was still tired, and she probably did need extra help, but that seemed to go with the new territory.

Ehlers-Danlos Syndrome

When it did come back on the radar again was when we heard about Ehlers-Danlos Syndrome.

A “syndrome” tends to sound like a quasi-condition. That’s not helped by the fact that Chronic Fatigue Syndrome has seemed, in the public consciousness, to have become something of a catch-all description for being tired with no apparent cause. Similarly, Asperger’s Syndrome, which is “like Autism but not really”, is getting a growing amount of press (I was reminded recently that the well-known psychologist, Alan Jones, once proposed a diagnosis of Asperger’s Syndrome for Kevin Rudd), and there are ‘word on the street’ grumblings that it’s becoming overdiagnosed. It also occurs on a spectrum which has had a classification wonderfully known as “Pervasive Developmental Disorder Not Otherwise Specified”. Of course, none of this means syndromes are quasi-conditions, but you can see how it sounds that way. If you remember that AIDS is also a Syndrome (Acquired Immune Deficiency Syndrome), it becomes less of a wishy-washy term (although perhaps no less mysterious). Downs Syndrome is another that’s instantly recognised in the public consciousness as a ‘real’ condition. Perhaps (and I’m only speculating here) the ambiguity associated with the ‘syndrome’ terminology is due to the conditions being classed initially as a syndrome when they were first recognised primarily by signs and symptoms, and the syndrome label sticking, well after the cause of some of the syndromes had been discovered.

Ehlers-Danlos Syndrome may fit that description. While it sounds similarly obscure and syndromey, it’s now known as a fairly specific condition with a heritable, genetic basis.  In short, a person with Ehlers-Danlos Syndrome has messed up collagen. In my wife’s case, it’s stretchy collagen which has apparently manifested in several ways, such that EDS has offered explanations for symptoms we’d never considered as being related to CFS. For example: her supple, stretchy skin; the fact that for years she’s been able to dislocate joints painlessly (great party trick); the need for a transfusion after losing a disturbing amount of blood after the birth of the twins via C-section (collagen is vital in the blood clotting process); perhaps her inguinal hernia, which are relatively rare in females. It also offered an explanation as to why a physio would rate her stomach muscles as being in an equivalent condition to those of an elite athlete, despite the fact that at that time she was playing no sport nor doing any training: her body’s core was compensating for the lack of musculoskeletal stability created by the ‘sloppy’ ligament bindings – and this in turn offered an explanation for the chronic fatigue and pain: her body has to do an abnormal amount of work just to hold itself together, and the muscles, working anaerobically more, and sooner, produce lactic acid, which in turn produces the pain and the ‘hitting a wall’ collapse.

It didn’t explain why clinicians in at least two different countries and four Australian states, in the course of her consultations relating to the chronic fatigue symptoms, spanning some ten years prior, never recognised her condition for what it was – it was hearing about EDS from a family member that put her onto that line of enquiry. Perhaps the fact that’s it’s fairly rare (something like one in five thousand people are affected) goes some way toward explaining that (and why we need to repeat the name of the condition, and spell it, for just about every new clinician). Ultimately, though, it didn’t really matter in terms of ‘what to do’, because the condition is incurable. So it’s rather like having CFS, except you know what it actually is, but can still do nothing about it, except to try and strengthen the body to be able to be as effective as possible, when possible – a strategy also available to CFS sufferers where possible (one study has suggested that something in the metabolism of CFS sufferers may be ‘broken’ such that their ability to do work is actually impaired by doing work… so it becomes a bit of a “there’s a hole in the bucket…” situation wherein not only can doing work be harder for CFS sufferers, but the repetitive training that usually makes doing work easier over time, is also harder for CFS sufferers).

But think of the kids…

The real kicker for me personally, in regard to the late diagnosis of EDS, is that it’s heritable. Thankfully, my wife’s type of EDS is a relatively mild one. Severe types are life threatening and dramatic – think of rupturing organs – and, again, thankfully, EDS is heritable by type. So, knowing that my wife’s organs aren’t going to rupture, I can be confident that my kids’ organs aren’t going to rupture. But it still leaves me feeling a bit “ripped off” that we didn’t have the knowledge sooner. And rather poignantly ripped off, at that; in hindsight, while we were deliberating about the blood transfusion she needed, we were completely oblivious to the fact that it was probably due to impaired clotting as a result of the condition we didn’t know she had, and to the fact that the act that had brought that clotting symptom to light – of bringing two beings into the world – also involved passing on the condition to those beings. Not that I expect we’d have done anything differently if we’d known, but it would have been nice to have been able to discuss it, rather than learning about the condition we’d passed on, after the fact.

When we did learn about EDS, we thought we’d better get confirmation on whether the kids would have to deal with it. That involved an appointment with a geneticist. There was a comical (although initially entirely disturbing) moment when, after having asked for the kids’ dates of birth for the paperwork, and noticing that they were the same, the geneticist said, “Twins! Are they identical?”  This is a question (in respect to a boy and girl) which I could (and did, frequently) forgive when posed by a member of the public who’d accosted us on the street, having noticed the dead-giveaway double pram, but, coming from a geneticist, it was a shocker. “Yeah, you’d think so, but apparently that pesky Y chromosome, and the different genitals, preclude them from being considered identical.”  That’s what I thought of saying later, but I was gobsmacked at the time. So, thankfully, was he – it was only a second later that he looked like he wanted to chop his own tongue out. He – a very young man – shook his head in dismay, and I can only assume his knowledge of genetics was switched off as he engaged his bedside manner in an attempt to start an engaging discussion.  I expect he spent the rest of the week castigating himself as the memory of his faux pas came back to haunt him in quieter moments.

But yes, the diagnosis of EDS was confirmed. And, some years later, we see it in action. The kids are hypermobile – my son has ‘double joints’, my daughter sometimes freaks out when she realises after trying to get out of bed in the morning that her hip has dislocated, and despite being active kids they are both prone to ‘hitting a wall’ relatively early in the day.  I worry about how they’ll cope in future, and I wonder how much of the negative emotional dynamics of the condition they’ll carry into their own relationships – will they take our baggage or create their own.

But it could certainly be worse. They could have CFS, for example.