Ehlers-Danlos Syndrome: Pandora’s Box.

I am very happy to be returning to work and, to avoid wasting precious consultation time, I thought it would be wise to explain the reasons for absence on paper/blog.

I had been struggling with musculo-skeletal pain and fatigue for some considerable length of time and this had put a stop to me doing any exercise but blood tests never showed up anything particularly abnormal.

In February 2014 I finally got around to consulting a neurologist colleague and it was clear from examination that all was not well. And so started numerous investigations and visits to no less than 8 different hospitals and with excellent care, a few set backs and perseverance I was finally diagnosed with a genetic condition called “Ehlers-Danlos Syndrome.”

This came as a huge relief to me as I was finally able to understand why my body didn’t function properly. Retrospectively, it also helped to explain other unexplained medical symptoms in my family.

In the summer I was finding it very difficult to do NHS work at Prospect, and was having to lie on my couch between patients. This was post lumbar puncture and I found I could not sit or stand upright for any length of time without being light-headed and being unable to think straight – not a good position to be in when trying to look after my patients! Rather reluctantly it became clear I needed to stop work and spend some time getting the help I needed.

So 3 Professors and an Immunologist later I find myself with Ehlers-Danlos Syndrome (EDS) with associated PoTS (Postural Orthostatic Tachycardia Syndrome), and MCAD (Mast Cell Activation Disorder) which I am doing my best to manage on a day to day basis.

“EDS” sometimes called “Hypermobility Disorder” affects collagen in the body (a so-called connective tissue disorder) and in my case the defective collagen is multi-systemic affecting my musculo-skeletal, cardiovascular (blood vessels and heart), gut, neurological and urinary systems. So far my brain remains intact – fortunately no collagen in the brain! Long may that remain….

The difficulties with recovery from the lumbar puncture now makes sense – although a totally uneventful procedure at the time – the defective collagen prevents proper healing of the dura lining the spinal cord.

These are the lessons I like to think I have learnt:

  1. Normal blood tests don’t mean there is nothing wrong with you.
  2. We are not all perfect!
  3. I am quite convinced that this condition is responsible for many patients seen in General Practice with non-specific symptoms such as chronic pain, and fatigue and that a sub-set of so-called Chronic Fatigue patients have EDS.
  4. There is no cure (but The Genome Project looks promising) but it’s incredibly helpful to have a diagnosis – it gives you permission to go a bit more gently on yourself and sometimes put yourself first.
  5. There are some wonderful health care professionals out there.
  6. It is an unpredictable problem – so taking control of what you can with learning coping skills whether pacing or psychological techniques is helpful.
  7. Chronic so-called Rare (although this is probably not so rare) Diseases are ‘Cinderella’ diseases. Far more money for research and provision of care gets poured into cancer charities despite the fact that chronic disease can cause years of misery, dramatically affect quality of life for patient, carer and family.
  8. The NHS is very poorly funded for these conditions and so many people never get a diagnosis or the help with self-management they need.
  9. Many doctors, whether newly qualified, GPs or consultants are ignorant about EDS and its association with multi-systemic problems, as well as associated conditions such as PoTS.
  10. Nothing changes if you don’t shout about it – so I intend to shout about it!

Useful Links:

http://www.patient.co.uk/doctor/ehlers-danlos-syndrome-pro

http://www.ehlers-danlos.org

http://www.patient.co.uk/health/postural-orthostatic-tachycardia-syndrome

http://www.potsuk.org

http://www.patient.co.uk/doctor/mastocytosis-and-mast-cell-disorders

For more and ongoing information follow me on Twitter: @barnes_johnson

and visit www.drkatebarnes.co.uk

 

 

Comments

  1. I found this blog very useful. I have eds and have written a book about it. I waz told I need to write a blog but I thought “what the hell do Iwrite about?” I found the breadth of your ontent very interesting. I write bout anything! Not just eds!
    PS I am on radio Humberside Saturday 30th May at 9.35 about book and eds.

  2. Christine Hunt says:

    Came to your great blog after reading your article in morning paper. Cried when I read it as I have all the symptoms . Had a heart ultrasound last week and more tests following but I feel its going to be a long road until diagnosis!

    • Kate Barnes says:

      Good Luck – hope you get the help and support you need…

      • This lady puts things considerably into context. The text or language, reality, ideas, assumptions, training, philosophy, changes in all the fields sadly, which prevents understanding and health from emerging anywhere. They should publish an open list of EDS-conscious health professionals of course but this is probably too advanced a thesis to process what with the stress of being particularly advanced intellectually and blessed with an overabundance of conscience.

        Diane O’Leary, PhD presents – “All in Your Head”: The Problem of Psychogenic Diagnosis for EDS

  3. lisa portelli says:

    Please please point me in the right direction for help. I have exactly what you have had symptom wise and my gastro consultant pointed me towards EDS. Unfortunately my rheumatologist refused to believe it and wouldn’t send me for further tests, I even think my son has it and I believe my mum has it to, especially after watching a seminar from a top consultant in Boston and her list of symptoms was nearly a complete check list for the 3 of us. I’m at my wits end and no one is listening and now after reading the article in the daily mail it felt like they had my medical report there inc migraines, shoulder and neck etc. I was crying reading the article IT WAS ME, every aspect.. I can’t take much more so please any help or advice of where I can finally get listened to would be so appreciated.

    • Kate Barnes says:

      Will reply to you separately by email about trying to get help..

    • Please please ask for a second opinion, your GP should give a named referal to the specialist of your choice. It takes a while to find the most informed specialist but don’t give up. Good luck.

  4. Hi, I have been diagnosed with joint hypermobility syndrome, having done lots of sleuthing to find an explanation for my symptoms. I’m currently stuck in bed with a knee subluxation and lots of pain. I have been handed a leaflet about JHS by a rheumatologist but have had no advice on managing the related dysautomnia, ibs, fatigue etc. I am pretty much housebound at present. Do you have any advice on where to start with my GP to access useful help locally? Thanks! Kate, 41, mum of 3.

    • Kate Barnes says:

      Sorry to hear this – especially with 3 children to cope with. I’ll reply to you separately re help with other symptoms.

  5. Hi, Im Helen and live in High Wycombe..not far from you! Its great to hear of someone else with these issues locally.

    I was diagnosed with joint hypermobility syndrome by physiotherapy last year after having a number of issues following childbirth. I am seeing a POTS specialist in a months time. Is it possible to get referred to you? My gp had to google pots and looked skywards when i mentioned EDS.

  6. This might be of use to you too. I had tramadol for a prolapsed disc with sciatica but found it gave me lots of energy. On further investigation with a bp machine, I found 1 tablet was lowering my heart rate by 20bpm, with no change in bp. A very handy side effect!

  7. I was diagnosed with probable Ehlers Danlos Hypermobility Syndrome back in 1996, aged 35. I had a long history of health issues, including subluxations, disc prolapse and rupture. In fact, cervical disc issues were present before I reached the age of 10. Repeated sprains and strains were also a feature. Chronic pain? You betcha! My orthopedic consultant said he had never seen such friable disc material after I ruptured three discs simultaneously. It was only in recent years that I finally had genetic testing done. I also have Multiple Sclerosis, but through research, I HAVE managed to get that 100% under control using methylated vitamins and amino acids. I also have inherited Late Onset Hypertrophic (Obstructive) Cardiomyopathy.. diagnosed aged 50.. my mom was diagnosed several years earlier and I had a 50% chance of having it. Even with that incurable condition, I manage my heart failure VERY well with Forskolin, a natural inotrope and beta blocker, and Furosemide, plus some herbal diuretics to manage the gouty issues caused by the diuretic. I am also apparently REVERSING the HOCM… using N-Acetyl Cysteine daily has resulted in my ejection fraction increasing from 28% to 45%. I rarely have symptoms, despite being told, back in 2010, that I would probably need a septal myectomy inside of 12 months..

    Back to the EDS, there is a fantastic page on Facebook. LOTS of sufferers. It certainly felt good to finally find others with related issues! Just to go through the articles and research in FILES would take a month! Link below

  8. Hilary Dewing says:

    Dear Kate
    I have emailed you separately with my request, but just wanted to leave a more public thank you for your article and work about EDS. I recently attended a CFS seminar where a woman stood up and said that she’d just had a long struggle with cancer – but that it was “almost nothing” compared to her 20 year struggle with CFS. Those of us who might be able to at least pin down some of the most distressing CFS symptoms with a diagnosis of EDS, thanks to your article, will be forever grateful.
    Thanks again!

    • Kate Barnes says:

      Thank you! Your comments will resonate with many – it is so challenging dealing with invisible illness – tiring in itself to be heard and believed. Medical education about this condition needs to improve markedly whether amongst medical students, GPs or hospital doctors and this is one of my main priorities. There will certainly be a subset of patients labelled with CFS who will have EDS.

  9. This is a very interesting article. I too have EDS with PoTS affecting my cardiovascular, musculo-skeletal and neurological systems. It seems surprisingly more common than you would believe having taken between 42 and 48 years to diagnose in my case. I was signposted to your twitter feed by a good friend of mine (the 76 year old lady you referred to from Saturday). We have supported each other over recent years and more locally I have set up an arrhythmia and syncope support group with local specialists in our area but hopefully with more and more people raising awareness, others will not go through hell and back to find out what is actually affecting them. I wish you well and will look forward to following you on twitter from now on in.

    • Kate Barnes says:

      Thank you for your comments – as you say – these problems are not so uncommon – they are currently under diagnosed. And thanks for the follow!

  10. How can I help you shout about this? Support you educating newly qualified Dr’s to adopt a ‘Sherlock’ attitude of ‘what if’. You may well have just put my daughter on a road map to educate and manage her care by medical staff ignorant of this condition. I’d like to help.

  11. I’ve was diagnosed with eds when I was about 10 (I’m now 30). Since then I’ve just thought it’s the way I am.
    I just read this, I’ve always had really low blood pressure and a low heat heart rate. I never realised these could be linked. Also really suffer from the cold and fatigue.
    I have hypoglycemia, could this be linked in anyway?
    I haven’t seen a doctor about it in years, and just figured there was nothing could be done. Have times changed? I appreciate no cure, but is it worth checking with them?

    Thank you, your website and articles have been really enlightening.

  12. Rachel Botterill says:

    Hi,

    My names Rachel I have EDS, MCAD, POTS, Fibromyalgia, Dysautonomia and GI dysmotility . I recently attended a GI appointment to get help with my horrible GI trouble caused by EDS and I was laughted at and smirked at and told to just accept it and manage because I’m not under weight so I’m not sick enough. You can only imagen how quickly I broke down in tears clutching to my hubby for support. If there is anyone you could refer me to or advice you could give me on who to see as I’m desperate now, I have tried self managing for so long my body is tired of constantly “getting by” I just need genuine help & understanding something that no NHS doctor seems to be able to offer. Your blog was great. I blog also on http://www.missdolly2013.wixsite.com/thedollscorner and I’m on twitter @Mrs_Dollie I’m always in search of help so anything you can offer me I would be so happy. I look forward to hearing back x

  13. Piers Mahon says:

    Hello,

    This makes so much sense to me – I suffer regular subluxions of shoulder, wrist and sacroilliac joint, and dislocate my rib regularly at T3-4. And have fragile skin and a heart murmur. Have always been told to man-up.

    But I’m more worried about my 7 year old daughter who is ridiculously hypermobile (Brighton =8 out of 9) and can’t sleep at night because of pain. Clearly, the risk of autoimmune and child birth complications are much higher for her than me.

    We are London based, and struggling to get a sensible path to diagnosis (and there clearly are differential diagnoses). Can you please advise?

  14. Magdalen savory says:

    Dear Kate
    I lived in great missenden for years tho born in South Africa
    I read your blog ages ago and I wish I was able to meet you
    But can’t as don’t have the money. I have eds 111 , low bp,pacemaker
    For syncope and laryngeal dystonia plus familial hypercholesterolemia.
    I rely heavily on midodrine I also have upper and lower cervical instability
    And go regularly to put bones back in place. I’ve been v fortunate and lucky to be treated by an exceptionally kind and caring team but things have happened recently in which I’ve been told they think some of my autonomic things are just feelings and not connected to physical things. In the past everything has been proven with regular profiling done As I can’t afford to come and see you I thought I d just reach out to you and say hello as my sister read your blog and said oh now I understand your illness. Funny my journey started at the little school in great missenden when I passed out in class age 4. How great missenden has changed since then. I am 48 and going off topic I was taught to swim by Ronald Dahl my father taught at Beckett in Amersham but died years ago. It has come as a bit of a blow when one suffers so badly and then told it’s changed into more of a pain stress related thing of dysautonomia with regards to some elements of things. I know this isn’t the case but how do you prove things when you have no money to prove it
    Howeaver that little girl in me as early as South Africa could never regulate her temperature was always the odd one out but funnily enough very sporty has spent her life having to lie down everywhere and yet looking at me you see nothing wrong
    I need help and am getting it in various forms and have been v lucky to get this help and I thank and am forever grateful to prof Mathias and his team. Howeaver things with me have taken a diff path and need help and so am praying I will b able to get it as you must know of all people that you have to be mentally strong to deal with this condition all the best magdalen savory

  15. Hello, it’s very interesting reading this and wonder if you could help me! I have recently been told I have hypermobility syndrome. And after 14 + years of seeing different GP’s at my doctor’s surgery with various problems and being told it’s just bad luck I have IBS… I have joint pains from getting older (I’m 34 now by the way)… I need to be put on medication for raynards… I need steroid creams for my skin complains, etc etc (there is an extremely long list of problems) all of which I have tried so hard to control myself naturally, tried various things the docs pescribe and changing diet etc have only ended up getting worse over time. Repeating trips to the docs pleading for help as I’m getting worse where I should in theory be in top health has been some what soul destroying. You actually end up feeling like you are going mad. Finally on seeing my gastro specialist at my whits end a couple of months ago he decided to look back over all my notes and conducted the Beighton Score test on me. Scoring 9/9 he made a link to my digestive issues and being bendy – hypermobility. At this point though there was still no mention of EDS. Its only been from my own research have I found EDS. Reading info on the condition has been eye opening as it literally explains all my problematic symtoms, party tricks and not to mention my family’s problems. However, on speaking to the gastro specialist and my gp no one seems to know what to do with me now. My gp seems to have passed me off and told me to get all referrals done via gastro (very odd) and although gastro specialist is happy to help they are unsure who is best to see to get a diagnosis but referred me to a rheumatologist. I have been trying for a second child with my husband and after reading info I’m unsure if this is now a good idea (espcially as a recent MRI has shown my colon is failing) I don’t want to wait months and months because I am getting referred here and there. Could you advise where and who is best to get referred to? Many thanks for your help!

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