Ehlers-Danlos Syndrome. Have you heard of it? Do you have it? Do you know someone who suffers from it? The purpose of this blog is to raise the awareness and to introduce you to two of my patients, the wonderful Joy and Jen, who are also mother and daughter.
Let me begin by outlining what Ehlers-Danlos Syndrome (EDS) is and the different types.
EDS is essentially a group of conditions that arise from genetic alterations in collagen. Collagens are proteins found throughout the body, our connective tissue. There are a number of different types of collagen in the body, often found together in very particular combinations in different body tissues. We all make the same collagens, distributed throughout the body in the same way. The collagens give strength and support to, for example, skin, bone, blood vessels, the gut and tissues in and around joints such as ligaments, tendons and cartilage.
The genetic alterations to the genes that are responsible for either making collagen or allowing it to function properly can result in weaker or more fragile and stretchy tissues throughout the body. As a consequence of this certain physical findings and complications arise. The effect on the body is widespread and not limited to one body system. It is the recognition of these patterns of physical signs and the identification of specific gene alterations that allow clinicians to separate out the different types of EDS.
There are several forms of EDS. All share common features, such as flexibility (hypermobile) and often instability (subluxation or dislocation) at the joints; abnormal skin (from mild papyraceous scars and stretchmarks in hEDS (Hypermobile) to severe atrophic scars in cEDS (Classical); and other fragile body tissues e.g., weak abdominal wall leading to hernias, stretchy blood vessels and varicose veins, and thin heart valves. However, some types have more severe physical signs than others, and some have unique characteristics too.
Apart from Hypermobile type (for which there is no definitive genetic test at present), genetic abnormalities have been found in most types of EDS but may not be easily identifiable in every case.
Vascular EDS is usually life limiting, as there is a higher incidence of organ rupture due to the fragility of the blood vessels and cardiac aneurysms.
Classic EDS usually have more dermatological symptoms and general tissue fragility.
Although many EDS sufferers lead full and active lives, for some, physical disabilities can be profoundly life changing and life limiting.
There appears to be a shift in awareness and therefore care available for EDS patients – and I advise people to hunt health care professionals out who have knowledge about their condition. I have seen too many patients who have been told ‘you’re just a bit bendy, lucky you, you’ll stiffen up as you get older’. NO. Don’t settle for that. Please.
I am lucky enough to have met these two wonderful ladies. They are an inspiration, and always manage , somewhere, somehow, to find amusement in their day to day plight to function, to work, to live their lives. I currently have 8 patients with EDS, 1 with vascular, 5 with hypermobile and 2 with classic. Word of mouth is a powerful referral mechanism, and we approach each patient differently, depending on how they present and their goals and needs.
“My name is Joy. I’m a wife, mother, grandmother and have, until recently, worked full time. I’ve always been bendy, well more than bendy but never thought much about it until the ‘accident’. I was thrown from a very large horse in 2015. After six weeks of plodding on it was found I’d I torn my MCL and it was later discovered my ACL too. I’ve always been slow to recover from sprains, strains and operations but this time I didn’t feel like I was recovering at all, in fact, it felt like my body had given up and was spiralling downwards at an alarming rate. I looked for something, anything that would help me ‘get a grip’ and pick myself up. That’s when I first met Vicky and Craniosacral Therapy and I’m so very grateful I did.
Most of the medical profession I’ve encountered for various sprains and pain would look at me and my joints and say ‘nothing much wrong here – you have a great range of motion’ and send me on my way. No one could connect the dots even though I always felt they were missing something. After a while you give up looking for answers. You have to.
Along with the lifetime of niggling, painful joints and soft tissue injuries I had also suffered from six orthopaedic operations on three different joints, migraines and daily headaches, nose bleeds, flat feet, piezogenic papules, heavy painful periods (and ovulation), night sweats, symphysis pubis, tenosynovitis, early onset osteoarthritis and peri-menopause, palpitations, tachycardia, mitral valve prolapse and regurgitation, fatigue, POTS and various other bits and bobs that couldn’t possibly be connected, or so I was told. So I plodded on. And on. And on.
I stopped plodding when I started CST with Vicky. Vicky is one of the worlds kindest, funniest, gentlest of souls. She listens and gets it, every time. I find the treatment relaxing, comfortable and comforting. I feel validated. I can walk in a straight line again, stand tall, feel invigorated, even my aches, pains and headaches will reduce for a while. It’s ongoing and now incorporates physio core exercises too. I’m never going to be the same as I was but I think back to how I felt before CST and I’m grateful I found someone and something that helps.
And at the age of 58 I finally received the diagnosis that connects my lifetime of dots, Ehlers-Danlos Syndrome!”
“I’ve known for the last 10 years that I have hypermobile Ehlers Danlos Syndrome, and I was only recently diagnosed. I went to see Vicky for the first time, around 3 years ago, on a recommendation from someone who has EDS. Around this time I had seen three physios on three separate occasions for three different joints. Nobody was looking at the bigger picture (and don’t even get me started on the rheumatologist or the gynaecologist I saw.) So, unsurprisingly, I went to Vicky with a very closed mind. I was not convinced that she would be any different. Crikey me, was I ever wrong!
Our first appointment started with me (and my mum, a fellow wonky ) describing my medical history from being a baby up to the present day. Vicky listened and I doubt there are the words in the English language to describe what this meant. If you have EDS and you have ever tried to describe your symptoms to anyone then you will understand what it means for someone to listen, not frown and not ask how your sore elbow and your tilted womb could possibly be part of the same illness. I cried several times and Vicky was so understanding.
Moving on to the CST, Vicky is so very gentle. Craniosacral Therapy is the one and only thing I have found that gives me relief from pain. It genuinely makes me walk better too, I really can’t talk it up enough.
I have known from the moment I clapped eyes on Vicky that she is someone who is empathetic, caring and just generally lush. We have such a good laugh during our appointments (although this possibly doesn’t help my ribs popping out!) If you have – or suspect you have – EDS then I would recommend going to see Vicky. The only thing I regret is that I can’t see her every day!”
Thank you so much ladies, you make me proud to be a physio, and lovely to be validated with my slightly different approach!
If you’d like to know more about us at Taylored-fit Physio, check out www.tayloredfitphysio.co.uk and contact us if you’d like to make an appointment.
If you’d like to know more about EDS there are a number of resources you can access:
Thank you once again for your continued support, and taking the time to read about EDS.