What is Ehlers-Danlos Syndrome?
Ehlers-Danlos Syndrome is a connective tissue disease, caused by faulty collagen. Collagen is the ‘glue’ of your body and is part of your skin, organs, ligaments, tendons and much more. The condition is multi-systemic, which means it impacts almost all of the body in some way, including the heart, lungs, auto-immune system, gastrointestinal tract, eyes and in lots of different ways that are too numerous to mention. There are different types of the condition, which range from highly disabling, to some types which are even fatal.
The most common type of Ehlers-Danlos Syndrome is Hypermobility type. This is because the most prominent sign is the Hypermobile joints – colloquially known as being ‘double-jointed’. This can occur in any joint, and means the ligaments and tendons aren’t holding the joints in place as they should, and allows the joints to over-extend. This causes damage in the connective tissues surrounding the joints. Joints can also dislocate, or semi-dislocate (subluxate) which is very painful.
As the connective tissue isn’t doing its job, the muscles take over. This means they’re usually tight and in spasm, and overwork which causes additional fatigue.
The condition is genetic and two-thirds of sufferers inherit it from one of their parents. One third get it through a genetic mutation.
How does it impact me on a day-to-day basis?
While I was born with it, the symptoms throughout childhood seemed random, so no one ever realised there was an underlying condition. I had lots of bouts of pain throughout my childhood that doctors dismissed as growing pains, and often my legs or ankles would give way and I’d fall to floor for no reason. My healing was poor and left scars easily. Simple tasks like tying my shoelaces were difficult, I struggled to write for long periods, and my handwriting was awful.
At the age of 15 my pain became constant. I now know this is a very common time to trigger the condition more seriously, but it took almost nine years before a consultant finally stopped shrugging their shoulders at me, and put a name to my condition. For all those years – the years most people are growing up, and having a life – I was getting home from college, or university and collapsing in bed, and spending all my money on alternative therapies to try and get some relief as the doctors couldn’t offer any help.
I have never had a pain-free day for almost twelve years. It’s unrelenting, and even worse is unpredictable. One day I could be limping from my left leg and unable to move my arm, and the next day they’ll be fine but my hip feels like it’s on fire and my neck is locked in place. This is makes it difficult to know what I’ll be able to do that day – and how much help I’ll need.
The condition impacts the auto-immune system and produces too much adrenaline, so I sleep really badly, and have insomnia. The fatigue is crippling, and I often have to spend all day in bed, or unable to function. Often just being able to do a simple task like have a shower, or get dressed is an achievement and all I’ll be able to do that day.
To be able to do something else – like go to a friend’s house, have a meal out or even worse – attend an all-day event is a bit of a nightmare, and involve lots of planning. For days in advance I’d need to rest to conserve my energy, then on the day take every painkiller available, and use every bit of my strength to get through it. Recovery will usually take weeks.
My hypermobile joints are particularly bad in my spine, and so I’ve developed bulging discs, arthritis, degenerative lumbar disease, scoliosis and cysts on my spine due to the over-extension there. As a result my mobility is impacted, and I can only walk with extreme pain, and so use an electric wheelchair.
Why is awareness so important?
The diagnosis rates of the condition are really poor. The average time of diagnosis for sufferers is over ten years, but for many it’s much longer, and some even live their whole lives without knowing what’s wrong with them. Many are also misdiagnosed with other conditions, or told it’s all in their heads. Ehlers-Danlos Syndrome is estimated to affect one in 5000 people in the UK, however according to a recent study, around 95% of cases go undiagnosed or misdiagnosed every year, meaning this figure is in reality much higher.
EDS is treated terribly by the medical community. I wrote a little more about this topic in Rare Disease Day and Ehlers-Danlos Syndrome. In general most doctors spend a few minutes covering the condition in their studies, and so don’t recognise it when they come across patients who are looking for answers. It’s also highly neglected in terms of research, care, NHS services and provision of medical expertise. There are only a couple of specialists in the whole of the UK for the condition, which are usually oversubscribed due to the demand.
There are some quite simple ways of looking out for the condition, so we need to get the word out to front-line medical staff – GPs, nurses, physiotherapists – as well as members of the community, so they can spot the signs as early as possible, and get help for people before they have to live years in pain without understanding why.
If you recognise any of the symptoms mentioned above in yourself, your child or someone you know – particularly hypermobile joints, long-term chronic pain and other unexplained symptoms – please seek further medical advice, and request to see a specialist as soon as possible.
The Awareness Ribbon for EDS features a Zebra Print. This is from the phrase taught in medical schools – “When you hear hoofbeats, think horses, not zebras.” This means when presented with a set of symptoms – the most obvious answer is usually a common condition.
EDS adopted the zebra to say – hey, rare conditions exist too!
For so long now I’ve been trying to get an MRI, after my mobility vastly reduced over the past few years. Luckily my specialist consultant agreed, and asked my GP to get one done locally.
My GP told me it showed a few issues
- Limited marrow oedema (degeneration in the joint cartilage) in L2
- Moderate degenerative changes at L4/5 and L5/S1.
- Moderate sized disc bulge at L4/5 which along with ligamenta flava hypertrophy (enlarged connective tissue) caused by facet joint arthritis on both sides, which has resulted in acquired central canal narrowing (12mm instead of 16mm)
- L5/S1 moderate broad based disc bulge causing an indent in the thecal sac. This has reduced the central canal measurements from the expected 17mm, to 11mm.
- Synovial cysts are on both sides of the facet joints at L5/S1 level.
However, locally – I’m still getting nowhere. My GP referred me to a spinal surgeon to discuss this, but in my area we have a ‘spinal pathway’ – seemingly controlled my physiotherapists. Even having my results upfront, they still want a physiotherapist to carry out a physical assessment, which isn’t going to tell them anything!
After waiting eight weeks for this, I went back to my specialist consultant at the Royal Orthopedic Hospital, who agreed to refer me to a surgeon there, so I can actually discuss my options (if any).
But, it at least explains why I can’t walk far – both the spinal narrowing, and facet cysts would cause this issue and can’t be solved with the hand wave ‘just exercise more’ than doctors love.
English: MRI sagittal image of sacral and dorso-lumbar perineural cysts (Photo credit: Wikipedia)
The first part of the story can be found here. From 2008 onwards my mobility vastly decreased. I swiftly went from sticks, to wheelchairs, to sometimes a few steps being too much. The chiropractor I was seeing at the time advised she thought my facet discs may be getting worse, but wasn’t entirely sure.
By this point I had a diagnosis of Ehlers-Danlos Syndrome, was aware one of the issues is that it causes joints to degenerate a lot quicker than they should as they are hypermobile and moving out of place all the time, which then in turn causes them damage. So it’s sensible to keep an eye on it, as you could technically end up crumbling away!
Last year I brought up this issue to my GP. While I understood and generally accepted the condition, and the general levels of constant pain, I was worried about what was going on in my lower back which has been the worst pain I have for some time. She agreed with me it was a valid concern, but said she did not have the authority to send me for an MRI unless it was for a surgical reason. I pointed out that I was unsure if it was surgical until it was scanned, but as she could find no symptoms relating to a disc pressing on a nerve – which is not my worry anyway, there was nothing she could do.
Instead she wrote to my two EDS specialists. One my specialists I really like – he listens in appointments, and makes lots of referrals. The other one comes across as slightly dismissive, and mostly spend her time trying to get me to lessen my painkillers – which wasn’t going to happen, after finding my current regime the best I’ve had so far. The problem with the first specialist is that he doesn’t seem to respond to GP letters. I realise he’s busy, and should have retired years ago – but local doctors just don’t have the skills and knowledge to treat EDS most of the year, and we shouldn’t have to wait for a check up just to get a simple question answered.
The second specialist did come back, however – to say she felt the answer to my issue was exercise. I have to say my letter back her from my GP and I wasn’t particularly polite. Oh, exercise! Silly us! I’ve done all the bloody stretches and exercises they have given me, and it’s ten years later and my lower back is simply getting worse. This is not an issue to simply dismiss as ‘have an exercise sheet.’ I have to say all my trust in her immediately evaporated at that response.
My GP then tried again to a local Pain Consultant. I have to say I’ve never liked this pain consultant. I saw him before I had a diagnosis, and he seemed to immediately take against me because I’d already tried the suggestions he normally makes to patients (acupuncture and a TENS machine… Yep, that’s it.) On my first appointment I asked him if he thought it may be Fibromyalgia, and he responded, “You can call it that if you like, but I don’t as it’s too American.” On my second appointment he said I was on too many painkillers, and that I needed to come off one of the painkillers. On my third appointment he said I wasn’t on enough painkillers, and upped my morphine dose.
But I still wasn’t expecting the response I got back from him that stated in black and white that to give me tests/injections into my spine would be “medicalising her condition, when she should be seeking psychiatric help” or something to that effect. He also seemed to have forgotten I have a diagnosis Ehlers-Danlos Syndrome, and stated my condition was Chronic Pain Syndrome instead.
Luckily, my follow-up with the first specialist was due a few months later – and he agreed with me I should have an MRI, as we don’t exactly know what the issue is – whether it’s something that’s got worse, or something new. The bad news is that they are transferring existing EDS patients from my preferred hospital of UCL London, to Stanmore – therefore losing him as my specialist, and making the other one my primary.
Two weeks ago my GP phoned to say now that my consultant has agreed in regards to the MRI, I can now go on the waiting list! I wasn’t sure how long they were taking, and hadn’t heard anything when couple of weeks ago I received a phone call from the MRI department asking if I was aware I had an appointment in a couple of hours, as I had yet to confirm it. Um, no, I certainly did not. I thanked her profusely for calling me, if she hadn’t I would have gone down as a Do Not Attend – and gone to the back of the waiting list at best, discharged at worst.
My path to a diagnosis was a long one.
I seem to have had a few people in my life at the moment develop back issues. In all, or at least almost all cases they seem to have gone to their doctor, been sent for an MRI, been diagnosed and sent for treatment. That’s brilliant, exactly how the NHS should be.
That’s not how it’s been for me. Sorry to bore those who’ve heard this before, but 10 years ago I started to get a strange pain in the joint between my neck and spine (that one that’s a little bump.) It began to crack, and feel really stiff. The pain spread into my shoulders and upper back. It then went into my lower back – badly. I began to not be able to stand as long as I used to, or sit comfortably. I fidgeted constantly, and my joints all began to loudly crack all the time. I didn’t know what the hell was wrong with me. The first rheumatologist I saw said I’d grow out of it. The second said it wasn’t arthritis, but didn’t know what it was. The next said I had bad posture – ignoring the fact I was hunched over due to the pain.
In the years between 2002 and 2008, that pain spread into every joint, every muscle. The fatigue was getting worse. I could only walk for short periods of time. I saw rheumatologist after rheumatologist, and two different pain consultants. Each time I raised the possibility of an MRI, but it was dismissed.
I finally saw a third Pain consultant in 2008. He was an asshole. It was the first time I left a consultants room in tears. He told me there was nothing wrong with me, and he said he would prove it by sending me for an MRI.
I was pissed off, but also pleased. At least his bad attitude was getting me an MRI. When I returned I saw yet another pain consultant who told me the MRI “showed nothing.” I was very disappointed. It’s very hard to be in constant pain and have no idea why. You hope it does show something – because at least you know, and then you can look at possible treatment options.
I continued to see the spinal specialist physiotherapist at the hospital who was able to print a copy of the MRI off for me. The same physiotherapist who said, “You are hypermobile as hell. I can tell just by looking at you.” She didn’t help me physically, but she tried – and helped point me in the right direction of my final diagnosis.
Unfortunately, despite having a copy of the MRI, I didn’t understand a word of it. A few months later I sat, although I can’t say why it took me that long, I sat googled every single word of the MRI that ‘showed nothing’ and was surprised to find various disc bulges in my lower back and neck, quite bad facet disc degeneration and arthritis in my lower back. So there was something. It might not have been the worst MRI he’d seen, or not operable – but I believe I should have been told what it did say.
From 2008 my mobility continued to go downhill, first causing me to walk with a stick, and later needing a wheelchair more and more often. My lower back continued to decline; at best feeling like someone was gripping into it, crushing and aching. At it’s worse? Well, there aren’t really words. I was desperate to find out what was happening, but it took another four years to get that update.