Ehlers-Danlos Syndrome Awareness Month 2014

31 May 2014 by

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.

In summary:

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.

Ehlers-Danlos Syndrome Zebra Ribbon

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!

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