Wednesday, 13 May 2015

EDS Awareness Month - Ehlers Danlos Syndrome

image: Tumblr via google images

I have been saving this post for the month of May as it is
Ehlers Danlos Syndrome 
Awareness Month 
(Or EDS as it is know for abbreviation.)

So here is my own account of my life with this syndrome, in the hope of raising some awareness. Obviously, all views and opinions are my own. I am not a doctor nor do I have any knowledge on medicine or care plans regarding this debilitating syndrome, but I have been chronically ill with Ehlers Danlos Syndrome since I was a small child and this is what I have learnt from my specialists and the EDS/ chronic illness  community. If you are reading this and have Ehlers Danlos Syndrome, I hope you can relate to some of the below. If you don't have EDS or have never even heard of it, then I hope I can give you a quick overview of this incurable illness through my own eyes. As a community, we are in desperate need of awareness in order to better our lives, medical care and the care of future generations who may have this incurable gene.

A quick overview of Ehlers Danlos;
Ehlers Danlos Syndrome (Type III) is a genetic connective tissue disorder caused by an abnormal mutation within an unknown gene. The impact of faulty collagen throughout the body has a widespread effect on those with the syndrome. It is incurable,untreatable for the most part (medication, if correctly found can sometimes help managment of symptoms but this is not guaranteed) and in the majority of cases can be highly debilitating, disabling and can leave many in constant pain. This syndrome has left me housebound and often bedbound for the majority of the month. In some of the rarer cases, a shorter life expectancy is sadly expected. There is currently six proven types of the syndrome which can all have over lapping symptoms. These six types are, Classical, Hypermobility (the most common), Vascular (the most dangerous), Kyphoscoliosis, Arthrochalasia and Dermatosparaxis. It is best to talk to a GP about your diagnosis if you are questioning the category in which you have been diagnosed, they may be difficult at times to differentiate without expertise help.

Ehlers Danlos causes a fault within the collagen of the body, this cannot be replaced. Collagen as I have always been told by EDS specialists, is visualised as the glue of the body that holds everything together. Collagen is proven to be the most abundant protein in the human body. Just to put this into perspective, collagen is usually found in 1/3 of the human body but mostly in the connective tissue. Therefore, in Ehlers Danlos Syndrome, things such as our muscles, tendons, tissue, cartilage, blood vessels, skin, bones, ligaments, internal organs especially the heart and its valves are all therefore compromised from the mutation. Without the correct collagen protein, everything is stretchy, loose and over elasticated including internal organs and their structure. The syndrome, is also know for it's joint hypermoblity, causing dislocations, subluxations and hyper extension on a daily basis without warning. Hypermobility is also used as a term not in just the form of joints both internally and externally, but also of the internal organs, tissue fragility and weak blood vessels. Everything about the body becomes overly lax with no improvement or change. Chronic, widespread musculoskeletal pain is a common issue within the syndrome with many ending up in wheelchairs. The disruption of faulty collagen is what stops the ability for our internal structure to stay compressed and together. Ehlers Danlos truly does cause problems that affect the majority of functions within the human body.

Ehlers Danlos Syndrome is a condition that is known for being an Invisible Illness, where to those living with the syndrome, they are in daily extreme physical pain as there is so much wrong but to the eye of others, we look completely normal. It is also rarely spoken of, known within the medical profession or rarely promoted so it's also invisible in the sense of awareness. Symptoms may vary for each case, but the majority of us live a low quality life, can often be housebound, use an aid such as a wheelchair and live with daily chronic pain.

How common is Ehlers Danlos Syndrome;
Medical professionals and students are told to think 'Zebra' when a patients medical history seems more complex than average. It has become a term used to determine a rare disease or a highly unlikely diagnosis. Therefore the EDS community use the zebra and zebra print ribbon as the face of the illness. There is a debate within the community over whether some believe Ehlers Danlos Syndrome is rare or just rarely diagnosed. In my own experience, I've only ever been around 6 doctors since my diagnosis process began who know and understand of the condition. This to me, gives me the impression to assume the condition is therefore rare. Rare diagnosis equals lack of knowledge to continue the diagnosis process within the medical field. As of now, there seems to be a very limited amount of the public who have a confirmed diagnosis. More education is needed for it to not be deemed so rare, starting with GPs and doctors understanding and seeing the early signs that lead to a diagnosis. Many GP's have never even heard of the syndrome, which is frightening when you need local care if such a complex condition. It is thought that many people live with the condition unaware that they have it, but it is not proven the severity of their cases in which the syndrome goes undetected. A larger ratio of the female population are affected to the male.

How Ehlers Danlos Syndrome is tested/ diagnosed;
Diagnosing the condition is never straight forward, it can take an incredibly long time for the patient to get to the point of diagnosis. Personally, it took me 7 years to be diagnosed, this consisted of living in the loop of doctors dismissing my pain and giving me incorrect diagnosis of common illnesses. Many are also in this situation, misdiagnosis seems to be a common issue. The syndrome is more often than not overlooked, whether this is because of it's rarity is another question. Since having the pleasure of speaking to others with the syndrome, it seems that it takes many, many years for the majority of us to be diagnosed with EDS. Being under the correct care with lack of specialists is an issue that many face. Hypermobility type testing is usually a case of finding the right doctor or specialist who can complete the physical testing based upon the Beighton/Brighton scoring scheme. This consists of categories in which a patient may meet regarding the hypermobility of their entire body, skin laxity testing and their medical history. Only then will you have correct confirmation of the complex condition that is Ehlers Danlos Syndrome. Your family genetics are also thoroughly examined to determine diagnosis. Internal problems need further investigation. In my own experience, I've also had many severe internal stomach and gastroenterology tests, as well as bowel testing to find the root of my problems from a young age. It is highly unlike you will just stroll into one appointment and be diagnosed with the condition, there are many other fields that need to be looked into first. Vascular Ehlers Danlos is usually diagnosed via genetic testing such as a skin biopsy. There is a huge relief when you are diagnosed, however every day of living with Ehlers Danlos is a battle, so it's never a winning moment, it's just a confirmation which is a great feeling even if they can't help you. You are usually under a number of specialists once diagnosed. 

How Ehlers Danlos can affect your life;

Ehlers Danlos causes a variety of systemic manifestations. This means the majority of the bodies tissues and organs are compromised and affected as a whole. I personally have pain in every joint possible on a daily basis, usually ending with many dislocations. I have major problems with my stomach and gut, as well as my heart, lungs, bowels and bladder. I have been assured this is all due to Ehlers Danlos. As well as spending most of my days in bed with chronic fatigue, I usually have too much pain to be able to function correctly. This is difficult now that I am an adult and wish to be highly independent in ways similar to my friends and family. On the rare days that those of us with the condition manage to get out the house, the majority of us depend on wheelchairs or crutches. The simple tasks in life like holding a kettle, using the stairs, brushing your teeth, bathing or showering become incredibly difficult and usually involve another persons help. A lot of thought goes into the slightest movement with fear of dislocating. Our mobility is incredibly, poor, stiff and reduced one hour to the next. We can wake up with pain and dislocations just from sleep. We are so drained and tired by mid day, however we find it difficult to sleep at night with persistent high pain levels. It is not a nice feeling to wake up feeling so physically disabled when the day is yet to start. Although its a daily condition to deal with, no two days are the same with how bad the pain may be, but one thing is certain, the pain will always be there. Ehlers Danlos can make you feel incredibly vulnerable, from its physical aspects to what the condition is doing to you mentally. When you become housebound with chronic pain, you end up becoming incredibly isolated, depressed and anxious. It is scary to live with an incurable rare disease to say the least, you worry for your future, for your body, for your immune system and how life may turn out. It is a continuous journey of trying to work through depression and anxiety when you are chronically ill. 

The symptoms of Ehlers Danlos Syndrome;
Loose unstable hypermobile joints, frequent joint dislocations or subluxations, muscle weakness and wastage, gastrointestinal issues, autonomic nervous system symptoms - the function of internal organs and the nervous system, low bone density, chronic fatigue, blood circulation difficulties, chronic migraine, poor wound healing, prolonged bleeding, eye issues, flat feet, dental problems, depression, anxiety, stretchy fragile velvet skin and more.

 The above symptoms can sometimes lead to full gastrointestinal failure, prolapses, ruptures and dysfunctions of the body.  

With a diagnosis of Ehlers Danlos Syndrome usually comes many symptoms. A typical Ehlers Danlos patient seems to be immune or sensitive to most medications they are prescribed. Because the illness is multi systematic, the root of the problem is hard to treat. We trial many different medications throughout diagnosis with little on no impact at all. Having pain head to toe is a difficult way to live, knowing that there is no cure or way to relieve some of these symptoms is something that is also difficult to accept and adjust too. A lot of us also have a resistance to local anaesthetic and should pre warn anaesthetists before any procedure.

The mass of symptoms therefore leads typically to the diagnosis of overlapping related illnesses and syndromes such as Postural Orthostatic Tachycardia Syndrome, Chirani Malformation, Mast cell Activation Disorder, Scoliosis, ME/CFS and Fibromyalgia. Some patients won't always develop these overlaps but it seems to be a common occurrence for a typical EDS patient. As I have many of the overlapping illnesses that may emerge, its hard to differentiate them all at times. I never know if its EDS causing the problem, POTS, ME/CFS and sometimes on a really unlucky pain day, it can be a bit of everything.

POTS mixed with Ehlers Danlos Syndrome is a common but highly unpleasant combination. If you faint as a result of  POTS, there is a high chance you may dislocate or sublux a joint (EDS) depending on where or how you may fall. Weight loss is also something I have found in this condition. EDS can cause severe gastroparesis symptoms as well as slow gut dysmotility issues. This means that my digestive system doesn't really allow me to eat more than a child's meal per day, my drinking is also compromised because of instant pain that comes with this process. It is difficult to cope with and meal times become a painful process. My weight loss comes in frequent amounts of a combination of this issue, mixed with an intense POTS episode. My body can often feel like it is shaking or having body tremors for hours on end. It feels like every ounce of energy and fluid drains from me through sweat and exhaustion. Intense to say the least!

Whether something triggers pain is a difficult question, we wake up in pain but we also know what to avoid to make anything worse or even more strenuous on our bodies in order to get through the day. We know when we need to preserve energy, learn how to pace and try to adapt to our situation. A lot of people have concerns over the weather, temperature changes and altitude changes all of which can have adverse affects to an EDS body.  

The myths of Ehlers Danlos;  
As much as basic online reports may state, it is not just a case of a patient having overly stretchy skin and bendy joints or being able to contort their body into weird positions. This is often infuriating for those who have this illness to read and quite frankly can be seen as a mockery to the sufferers. The basic symptoms highlighted are the least of some of our worries when it comes to the syndrome and show emphasis on the lack of knowledge or research available. It's highly serious, debilitating and rarely diagnosed. There are much more important and worse symptoms that consist in Ehlers Danlos that the focus should be on. Recently, there was a documentary highlighting Ehlers Danlos as some sort of circus act. This is infuriating and an unfair assumption for those who are highly debilitated and disabled by the condition.  

Is joint hypermobility the same as Ehlers Danlos Syndrome -
The following is only based on my own opinion, some may agree, some may not. Although at this moment in time many specialists and some patients believe that the two are possibly the same, the below is my opinion on the subject. I personally believe there should be a difference between the two. The reason they are under the same umbrella term at the moment is supposedly because they are diagnosed using the same technique. I believe that between the two conditions, there seems to be a difference in severity and symptom involvement, so it seems wrong that they are distinguished as the same name towards patients, as well as presumably 'treated' the same. There needs to be a definitive line where they are seen as two separate conditions. It is concerning that it could get to the point where there will be too many people under just one umbrella, all with a vast range in symptoms, being told that they all have the same thing. I feel a wider, stricter spectrum needs to be put in to place where we can separate just having hypermobile issues to having much more complexed issues internally such as Ehlers Danlos. I feel there could be more progression within selective medical science for treatment of the condition if this was the case. It worries me that those with severe issues and symptoms of Ehlers Danlos, will have their pain dismissed or not treated as correctly for their case on a spectrum of comparison to that of a hypermobile person.

There is obviously such a thing as being hypermobile in life. Many dancers and gymnasts have hypermobility in this form with milder issues and may be able to use it to their advantage. It's not just a case of being double jointed and thinking because you can bend joints to an excessive degree it must mean you have Ehlers Danlos. I feel it will be far too easy for people to jump on the hypermobile bandwagon and assume they have EDS when this term is used. Only once since my diagnosis have I used the term hypermoblity and had someone reply "oh my body's hyper mobile too, I can do a back bend", which made me so mad as there is so much more to Ehlers Danlos than flexibility or what others deem 'being hypermobile'.

Their are others who have more complex issues that come with an Ehlers Danlos diagnosis that not many people have. From the gastrointestinal side to the autonomic dysregulations and other overlapping condition involvement that could be potentially dangerous. There is so much that consists of an Ehlers Danlos diagnosis, new symptoms are constantly arising and you are always learning something new about the complexity of the syndrome. Although, as of right now they are supposedly similar and under the same term, I really don't agree. I have always felt so strongly about it because my main issues with Ehlers Danlos stemmed from my problematic organ issues, inability to walk correctly and the dysfunction of my internal organs.

Things that may help ease a bad EDS day;
Obviously,we are all different and cope in ways we see fit. I've found things such as rest, honesty with others and allowing yourself to feel down over your bad days is a great way to get through each hurdle. It took some adjusting, but I realised I am entitled to extremely down days where my body feels so against me and illness takes it toll. If I am due somewhere, I try to think of ways to make the day easier and work with whoever I may be with to get the most out of my time out doors. I find being able to speak to someone I can trust or someone who is in the same situation as myself so helpful too. Diverting my attention and focusing on something worthwhile I have found has personally been a big help, i try not to do this when I am feeling too emotional as I'd rather work through the emotion. Outlets include, writing, music, reading, completing work. Not every day is a focus day, a lot of the time pain is highly overwhelming.  Plans may often need to be changed at the last minute, resting should be a priority. 

Others find comfort in specified, gentle exercise but only if they feel their body can handle the strenuous activity, others are frightened of the thought of exercise completely. There isn't a right or wrong as I've said before, people can advise you to do certain things within illness but ultimately the decision in how you live and cope with illness is up to you. Although sometimes we are told to not always depend on them, I like to use splints when I am desperate for some extra support around a joint.

Do you have EDS? What helps you cope with this illness? How does it affect your everyday life?

I hope I have managed some contribution for the month of Ehlers Danlos Syndrome awareness. Although there is a selective focus on the month of May for awareness, we can truly never stop promoting and highlighting this illness enough.
 Ehlers Danlos Syndrome is an invisible, chronic, incurable disabling illness in need of all of the voices it can get.


  1. This is such a well written, in depth post about EDS, Nancy. I have HEDS and am suffering daily, I can't function without my meds and most of the times still can't function with them. It took me six years to be diagnosed, it's such a hard process for anyone with the condition, especially if they or their doctor have never heard of it.
    Thanks for sharing, hope you're doing well,
    Sarah x

    1. Hi Sarah, thank you for your lovely comment.
      Thank you so much, it took a long time to work on but I got there in the end ,haha. I'm sorry to hear things are difficult with your HEDS, it's a never ending battle of being so controlled by pain. I will never understand why doctors are so limited on the knowledge of Ehlers Danlos. We can only hope that this changes in the future, as well as potentially shorter diagnosis time. Wishing you well, keep smiling :) Nancy xx

  2. I too am from sussex and suffer with ME. I'm 26 & have had it for 6 years. Your blog is beautifully written and explains illness well, well done you!

  3. This is such a wonderful and informative post Nancy and I very strongly agree with you about EDS and hyper mobility being very different. I have joint hypermobilty syndrome which people never understand is incredible different to just having hypermobile joints that are very flexible, its so frustrating :(
    I just wanted to say thank you so much for the lovely comment you left on my chronic illness post, your kind words meant so much to me <3
    Love Holly x