What is Ehlers Danlos Syndrome?

As you will have understood if you’ve read my other posts about Ehlers Danlos Syndrome, I’m not a medic.  I am someone who has Ehlers Danlos Syndrome and as such have set about to find out as much as possible as I can about what it does to my body and to the bodies of my children.  So I’m going to try and answer a few questions about the Syndrome, hopefully in a way that you’ll understand.

First of all, what is Ehlers Danlos Syndrome?

There are actually several types of Ehlers Danlos Syndrome – they are categorised by Roman Numerals.  It’s also been called “Benign Joint Hypermobility Syndrome” although the term Benign is seen as somewhat strange by many people with the syndrome.  It’s not cancerous but is certainly doesn’t mean it sits there having no effect on the body.

All types of EDS are genetic conditions – something in our DNA isn’t quite right.  There are great amounts of research going into the genetics here in the UK at the moment and I suspect over time, more and more types of EDS will be discovered – or may even be given different syndrome names.

I have EDS Type III with a genetic Type IV marker.  I say that as if I know what it means… essentially in means that my EDS is atypical, I have the symptoms of one type with a genetic fault indicating another.  It’s up to the research team to work out exactly what that means and they have my DNA samples to work with.

What is affected by the genetic problem?

In EDS, the ‘faulty’ gene affects our connective tissue and the collagen within it.  In some cases it means that you have a ‘normal’ amount of collagen but it’s poor quality and in others you have far less collagen that normal.  Collagen helps hold everything together and if it’s not good quality or lacking, things become more lax (bendy).  This isn’t limited to joints, it includes anything that has connective tissue in it – skin, blood vessels, muscles – all sorts.

The main thing that I want to emphasise is that everyone with EDS has it in a slightly different way.  The symptoms we have all vary – the effect of that genetic malfunction is working with an individuals genetic make-up that has formed through the generations.  Put us all together and we’ll certainly empathise with each other and share a fair few symptoms, but everyone will have their own particular presentation of the condition.

So it’s Hypermobility then?

I believe that there is a real difference between hypermobility and EDS and how I explain it is this:

Hypermobility is the ability to extend joints further than they would ‘normally’ go with no pain and possible with beneficial effects – for example most gymnasts and dancers are hypermobile and that’s how they reach the heights of success.  Repeated hypermobilising of their joints may not do them much good in the long run (for example, it may be linked to arthritis) but there are no symptoms of pain or malfunction at the time.

EDS may bring similar degrees of hypermobility in some joints but it seems is found in so many other places in the body too.  It comes with other symptoms, often pain, fatigue and other related medical issues (that I’m not going to go into here).  I suspect that the geneticists will find many more links with EDS and already recognised diseases and conditions in the future – time will tell.  EDS is something that has a full on, and often detrimental effect on every day life.

Having spoken to others on an EDS Facebook group, something that echoed time and time again is that with EDS it is not “just” hypermobility and being double jointed.  It is a complex, unpredictable group of conditions of which relatively little is known and is completely and utterly real.

Can you fix it?

In a word, no.  At the moment (and I suspect for a long time to come) fixing a genetic problem is not possible.  People with EDS may present with conditions that others recognise in themselves or have seen in others and that have been ‘fixed’ with surgery, drugs or otherwise.   The ‘miracle’ surgical cure that has resolved a ‘dodgy’ knee or repaired a joint after an accident isn’t necessarily an option with EDS.  Surgery has its place (for example my recent Ulnar Nerve Transposition) but it will not resolve long standing laxity or repeated dislocations.  Not only that, those with EDS tend to scar badly (and those scars can stretch) so in the long term the mixture of anaesthetic, scarring and the required rest after surgery can do more harm than good.

Drug treatments can make life easier, but in many cases, painkillers do not work in the same way as they do in people who don’t have EDS.  There is a thought that our bodies process the drugs far too quickly and they just don’t get a chance to do their job.  Long term use of drugs to manage pain is an incredibly difficult balance to strike for both the person taking them and those prescribing.  Alternative treatments may offer some relief but again, when you’re dealing with something that is caused by a problem with DNA it’s not at all straightforward.  Things that relieve some symptoms (for example painkillers) may aggravate other problems (for example gastro ones) so it’s never an easy “just take xxx” process.

What (not) to say to someone with EDS

Those with a diagnosis (or a potential diagnosis) of EDS will have probably been experiencing symptoms for some time.  It is not a condition we would wish on anyone; it is painful, often debilitating, life changing, worrying, exhausting and all encompassing.  It is not something that is made up nor created for attention – please don’t imply that it has been.  Thanks.

Although those with EDS can get their bodies into all sorts of odd shapes, being asked to do ‘party tricks’ to order isn’t a favourite thing!

The normal human response to empathise with someone in a difficult situation can be easily misinterpreted – “oh I’m hypermobile too” is not necessarily a helpful comment, neither is “oh, can’t you have it fixed” or “oh my friend had that and took this and it got better…”.  EDS is not a condition that will ‘get better’.

‘Rest’ is not necessarily a good thing for those with EDS – resting makes our already lax connective tissue (muscles) even more bendy.  Keeping going may be painful but the better of the two options.   In many cases, taking to bed would seem a wonderful idea, but would do more harm than good.  It’s a balance – one that we have to master and we may not get it right, but please don’t rub it in!

You don’t have to do the thing when you tilt your head to the side and say “how are you?” like someone has died.  Nor say “oh bless” when discussing a child with the condition.  We are not dead and to be honest, will probably tell you the answer you want to hear when you ask rather than the truth.    Personally, telling me how rough I look is never a winner – however, offering me a brew should I want one is wonderful, as is feeding my kids.

Sorry if that seems a tad blunt – but that’s what it’s like.  I’m still Jenny, as sarcastic, cake loving and gin drinking (when allowed) as ever – I work, I look after my kids, I bake, I write – and I have EDS.  It’s sometimes really crap, but that’s how it goes.

I don’t know how you do it

You know what?  Neither do I.  But I don’t have a choice so I do it.  You just may find me zonked out in a corner somewhere talking rubbish every now and again or taking a 1000 photos at the zoo to take my mind off things.

What is Ehlers Danlos Syndrome

So – what else would you like to know?  Ask me a question in the comments and I’ll do my best to answer it.  What is Ehlers-Danlos Syndrome?  It’s a rare condition and we don’t know enough about it yet.  Now who’s got cake?

 

 

Comments

  1. Jo says

    You write so well about this in language people can understand. I appreciate this.
    I would like to share some with my children’s teachers if that is ok.
    I agree completely so little is known or understood about this so called rare condition…especially in children.
    Sending lots of virtual cake

  2. Arnulfo Wise says

    wtf – how is trying to dislocate a finger a recognised test for hypermobility? I can’t see how a GP can legitimately block a referral to an expert for diagnosis because their completely made-up diagnosis failed? Sometimes just repeating, ‘yes, but I have the symptoms of (x) and I want a referral to a consultant with the correct specialism for diagnosis’ can help. Good luck with the new surgery!

  3. Candy U. Terrell says

    Recently a doctor tried to give me oxycontin for a bunch of dislocated ribs and when I turned it down he got this look on his face like I’d just turned down a few million dollars. I explained why: that it had been so hard for me to get off of these medications and I never wanted to walk down that road again. He rolled his eyes. Such is the common reaction I get in the medical community. Exhibit EDS symptoms without an official diagnosis and they think you’re either mental or that you are a drug-seeking fiend. Have the same symptoms with an EDS diagnosis and turn drugs down and they think you’re an idiot.

    • Jenny; Cheetahs In My Shoes & Just Photos By Me says

      Absolutely. So, so difficult. Thank you so much for commenting.

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