About Ehlers-Danlos Syndrome (EDS)
I have a disease/condition called Ehlers-Danlos Syndrome (EDS) which is a group of rare genetic connective tissue disorders. EDS is basically caused by the body’s inability to manufacture and maintain correct levels of collagen. There are six major types of EDS, each with their own group of symptoms and characteristics. I have the hypermobility type. The condition can drastically and detrimentally affect the person’s quality of life. There is no cure or completely successful treatment.
Main symptoms and characteristics of EDS – Hypermobility are joint hypermobility, extreme fragility of all soft tissue, super-soft and elastic skin. This translates as – constant excruciating debilitating pain pretty much everywhere but mostly in the cervical and lumbar spine (neck and back), large joint groups eg, shoulders, hips, and knees, and smaller joint groups eg, hands/wrists, ankles/feet; generally buggered-up joints with a tendency to dislocate or sublux, often requiring surgery; increased tendency for damage to ligaments, tendons, cartilage etc; reduced mobility; propriaception problems; massive bruising and bleeding, and other related problems eg prolapsed mitral valve (heart murmur) which can have fatal consequences in surgery or under anaesthetic.
Most people with EDS are diagnosed early on in life as although the disease is rare, the symptoms and characteristics are so classic – particularly in the Hypermobility type – that diagnosis is usually straight-forward. However I was not diagnosed until I was nearly 28 – and not for want of trying.
From birth I had terrible health problems that no doctor in Perth, Madrid or
London could diagnose. I was always in severe pain; neck and back spasms; severe “classic” migraines; problems with mobility, coordination and clumsiness, constantly badly bruised; eating problems, constant nausea and vomiting; and exhibiting a basic failure to thrive (for example, when I was eight years old I was the height and weight of a three year old - truly pathetic).
It wasn’t fun, in fact it was bloody awful. Not just the pain, which was/is horrific enough, but the repercussions and restrictions on every aspect of my life. Isolation and restricted social life, exceedingly low self esteem and body image, zero confidence … and what made it all so much worse was there was no ‘reason’ or explanation for what I was going through, so I experienced little or no understanding or empathy. I had no hope for a better day tomorrow.
As anyone who had the bad luck to be ‘different’ as a kid will appreciate, this situation - being sick and weak, and shy, and much smaller than my peers - made me a prime target for teasing, bullying and beatings in the big bad ugly world of the sandpit - right through until graduation from senior high school. Whoever says or thinks childhood is a ‘golden time’ obviously has no concept whatsoever of what cruel, bestial, narrow minded evil little bastards kids can be. And I won’t go into the total lack of awareness and support – deliberate blindness to the situation - from the school administration and pastoral care system (and I’m talking private Catholic and Anglican schools here, which prided themselves on their care and compassion - Jesus Wept, indeed).
Anyway the whole health issue continued unabated and in fact worsened as I hit my twenties. More doctors, specialists, physiotherapists, chiropractors, acupuncture, witch doctors and quacks - you name it I tried it. Still no answers. The general consensus from the medical profession was that I was neurotic and depressed.
Of course I was fucking depressed. I was an intelligent, self-aware and sensitive person in absolute agony (physical and mental), my life was the pits due to factors entirely beyond my control, I was lacking in hope and didn’t think I was going to make it (in fact, one of Perth’s “eminent” rheumatologists, who should have been able to make the diagnosis that was right under his nose, happily told me that I wouldn’t see my 30th birthday. I was 23). And all the damn medicos could tell me was that I was depressed and lacking in self-esteem. Well, fucking duh.
By the time I was 26 or so I was pretty much at the end of my rope. Then someone-or-other (friend of a friend of my mother) suggested I see a particular doctor, a rheumatologist and sports medicine specialist. I’d really had it with the medical profession and consulting rooms and examinations and endless tests by this time, and was recalcitrant to say the least … but decided I’d give it one last go … And thank the great and glorious universe that I did.
I made it to the appointment, met the specialist, had a full examination and a very very long chat. Then The Lovely Doctor Person (who I shall call Zeus as he is a great and glorious god amongst mankind) sat me down and proceeded to tell me what was wrong with me and why; what the prognosis was; and best of all - what “we” were going to do to improve the situation and my quality of life. I may have cried.
As there is no cure, nor specific treatment, EDS is treated symptomatically ie, the pain is treated with pain-killers, muscle spasm with muscle-relaxants, osteoporosis with calcium and specific osteo medication, anaemia with B12 and Fe injections and infusions, and so on. The second line of attack, aside from medications, is to attempt to improve and develop muscle tone, strength and stability via physical therapy so that the joints aren’t under so much pressure, without of course causing further damage to the joints. Thirdly, surgery and other invasive procedures may be required.
As far as pain management goes, I have a lot of really good drugs (hmmm maybe I shouldn’t write that!), pain-killers of various kinds, muscle relaxants and so on, plus I use relaxation and meditation techniques, yoga, apply heat packs and anti-inflammatory gels to affected areas yadda yadda. I also use sleeping pills when required to help me sleep (I sleep very poorly due to the pain and pressure, and as everyone knows sleep is one of the best aids to healing, so no/poor sleep = worsening situation).
Part B is an intense rehabilitative exercise programme aimed at stabilising and strengthening the joints. I try to do a work-out every day, at home (can’t make it to a gym, nor can I afford it, grrrr) including stretching, various floor and fitball exercises, weights, rowing - I have my own Concept 2 rowing machine at home, it’s the best overall work-out and you can do it sitting down – major bonus!. I also try to go to classes at a gym when I can afford it – hydrotherapy is particularly useful, as are Pilates and yoga, and I adore boxing.
It’s very hard work, and extremely fatiguing, but I’ve come to a point where I love the feeling associated with being physically fit and strong; it’s very empowering, particularly when all my life I’ve been a wimpy weakling! There’s also rather nice side-effects; being fit and taking in regular exercise really does make you feel better about yourself, better able to cope with the situation, and there’s also the teensy-weensy-minor-hardly-worth-mentioning spin-off - one tends to end up looking fabulous and toned and seriously smokin’ … hee.
This hasn’t meant an end to pain and problems associated with the condition by any means; I’m in pain all the time, its just a matter of degree. A “good” day is one when I am aware of pain, but it doesn’t much affect how I function, say a 5/10 on the pain scale - these days are increasingly rare. A bad day is about an 8/10, when I find it difficult to function and am bed-or house-bound. A horrific day now - well, when major neck and shoulder muscles go into spasm there’s nothing much to be done. The phrase “muscle spasm” sounds pretty innocuous, but honey, it ain’t. I scream, I writhe, I beg, I beat my head against walls to make the goddamn fucking thing please please please stop. Off the pain scale chart, basically - 15/10? The best drugs they’ve got don’t work, and that outrageous scary pain can go on for weeks and weeks. I’ve had to be hospitalised, carried to emergency, but as all they can do for me in hospital is keep me whacked out on even more morphine or pethadeine or whatever. I much prefer to be in my own home, in my own bed with my gorgeous fella, my cat, CD collection and other home comforts.
I have not been able to work for about five years now, which adds to my feelings of frustration and inadequacy as well as making for a tight fiscal situation. I don’t receive any support or benefits from the government, or anywhere, and not surprisingly I have large pharmaceutical and medical bills. We’re not where we had hoped to be, financially, at this stage in our lives; no own home, no investments, etc. But we’ll get there.
Even though I’ve been diagnosed for 10 years now, and should have “accepted” things by now, I’m still fighting and angry. I guess because every day is different and I have no way of knowing whether it will be a bad day or an atrocious day; whether I’ll be able to get out of bed and *do* stuff, or will I be pinned there like a formaldehyde-ed moth? I still cycle through feelings of utter black despair, anger/fury, beaten acceptance, optimism … But mostly I am very cheerful and easy-going, I laugh and joke easily, I have fun, I get passionate about things (the sciences, current events, books, films, my own little projects) and that keeps me going, through one day, one week at a time.
As if all that wasn’t enough, I also have Coeliac Disease, Fibromyalgia, a number of neurological weirdnesses (nystagmus, ataxia, cerebellar hypoplasia, unexplainable vertigo), classic migraine and chronic daily headaches, B12 anaemia and iron deficiency/anaemia, oesophageal reflux, osteoporosis, endometriosis and probably a few things they haven’t found out yet.
Basically I’m a musculoskeletal neurological gastrointestinal cardiovascular gynaecological nightmare. Or a conference of physicians’ wet dream - “ooh baby baby, here comes that Jules person, we can buy that third Lexus and put an offer on another beach house in Dunsborough …ooooooooh”.
I am incredibly fortunate to at last have a good medical team – as well as Zeus I have a brilliant new GP (I’ll stay with the naming standard and call him Apollo) who look after me, support me, help me through new challenges, look at other possible treatments, and never treat me like a silly, neurotic, pestilential female. Oh sure, I pay them so rationally they *have* to provide a certain amount of care – but the personal touch, the care and thoughtfulness aren’t easily found in the medical profession, no matter what you pay up.
I am also, it doesn’t really need to be said, utterly blessed with my partner. I was a very lonely, emotionally cut-off person before I met him; yes I’d had (more than?) my fair share of relationships but I wouldn’t let any of them close, emotionally, because of the health thing and my feelings of inadequacy, low self-esteem etc. I would engineer a relationship to self-destruct if it looked like the guy was getting too close – I refused to believe anyone could feel deeply about me and want to be involved with me and my fucked up life.
Tuxedo took the time and made the effort to get close to me, to understand me, to patiently wait and encourage me to let down my defences … I cannot say enough beautiful, amazing things about this man. Perhaps as important as his kindness, generosity of spirit, understanding etc is that he makes me laugh – even when I’m crying in pain, or puking, or in an emotional black hole of despair – he can make me giggle hysterically (I tell you, it’s a gift, to be able to cause someone to laugh and vomit at the same time… !)
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Useful Links
Australian Ehlers-Danlos Syndrome Support Group - http://groups.msn.com/AustralianEhlersDanlosSupportGroup
Ehlers-Danlos National Foundation (USA) - http://www.ednf.org/
Ehlers-Danlos Syndrome Support Group (UK) - http://www.ehlers-danlos.org/
Wikipedia definition of Ehlers-Danlos Syndrome - http://en.wikipedia.org/wiki/Ehlers-Danlos_Syndrome
Spine Universe [a handy resource for all things spinal] - http://www.spineuniverse.com/
