15 Nov 2016

Ehlers Danlos syndrome. Sometimes hard to see, always hard to live with

Son2 and I were both diagnosed with Ehlers Danlos syndrome by leading world expert in the condition, Professor Rodney Grahame. As well as being about as knowledgeable about the condition as it is possible to be, he's also kind, genial and still passionate about his field, despite being past the age at which many would be thinking of retirement.

Prof. Grahame, however, is still at the top of his field and has just published a new medical paper on EDS Hypermobility type, along with two other authors, Dr Yael Gazit, Dr Giris Jacob. It's entitled Ehlers–Danlos Syndrome—Hypermobility Type: A Much Neglected Multisystemic Disorder.

It's an important paper for EDS, I believe as it's just the kind of easy to understand information that can be presented to medical professionals to help them understand how the condition can affect so many different parts of the body at the same time. It's not "catastrophising" (don't you just hate that word?), it's not imagined, it's not a coincidence. If it contains collagen, as most things in the body do, it is likely to be affected to a collagen disorder. I'm not quite sure why this is a surprise to anyone.

Ehlers Danlos syndrome. Sometimes hard to see, always hard to love with

It's also the CQC's Invisible Conditions Week, so I thought it would be a perfect subject for a post here, my irregular counterpart to Special Needs Jungle which is for children and young people with disabilities.

Many types of Ehlers Danlos are extremely rare and can be fatal. EDS-HT, however is much less so, but because it is a connective tissue disorder, found all over the body, it is pervasive and can be extremely disabling, as I have found. While EDS can be invisible if you're able to walk about easily, many need to use crutches, splints or wheelchairs or perhaps rely on naso-gastric tubes for nutrition. Almost everyone with EDS is affected by fatigue.

Living with EDS is, at best, a bit crap. Work is left undone because I have to sleep. Days are lost to pain, bone-dragging, walking through-treacle fatigue or recovery from activity. Pain meds must never be forgotten or you get hit twice as hard. Attending events has to be carefully planned so I can rest before and after. It's a pain, living with chronic pain. 

The article describes EDS HT as a "complex hereditary disorder which is multi-systemic, probably due to the prevalence of connective tissue in all body systems. Its gene defect has yet to be found and might be of multi-genetic nature".  This basically means it is likely to be caused by more than one gene and so any cure is likely to be a loooong way off. Increasingly, suspicion is growing that it is also connected to autism because of the increasing number of people diagnosed with both conditions, including my boys and me.

Even more perplexing, the level of hypermobility a person has can have no correlation to the amount of pain they experience. As a child, I was bendy, but not double-jointed. I did, however, suffer unexplained, severe bouts of pain in different parts of my body that would come and go. Back pain has been an almost constant companion, even at one point, a slipped-disc that sparked back spasms, something I would say was actually worse than labour pain. I actually used to think living like this was normal because to me, it was. I have also always had regular dizzy spells, neck pain, jaw pain, intestinal pain and digestive difficulties, palpitations, was extremely short-sighted before I had Lasik, have life-long depression and anxiety, dysmenorrhea so severe it made me throw up and excessive adhesions as a result of abdominal surgeries. These are all manifestations of EDS that the paper cites as common to the condition. I never once wondered if they were connected. I just thought I was a general weakling. 

It's hard to believe it took until I was 45 to be diagnosed. Well, not really that surprising considering how many people out there are also late being diagnosed after similar experiences to mine. I had a successful career despite all those ailments. I just "got on with it"; what else was I supposed to do? My ambition was far superior to anything else at the time, anyway. 

I got married, had kids, though childbirth was extremely difficult, ending in caesarians. It wasn't until, after a particularly stressful, exhausting time when I'd gone back to working, pushing myself hard, that the regular aches exploded into an all-over conflagration of agony in 2012, that has never gone away.

invisible conditions

To look at me today, sitting in a conference or on a train, you wouldn't guess there was anything amiss. I actually look quite well. It's only when I stand and then perhaps sit down again when my blood drops to my feet and my heart starts to race, or you see the stick I use (for stopping, not for walking), that you notice anything different. 

The stick is a handy prop, really. It turns the invisible into the visible. The stick makes my life easier not just because it helps me stay upright when there is no person to hold onto, but because it signals to others that I have a disability. And it works, as I am usually offered seats, helped with heavy bags, offered directions to the lift instead of stairs and so on. The stick is like a magic wand that spurs kindness and humanity in strangers. The wheelchair, when I need it, even more so, but that also gives me a ring-side seat on how disability-unfriendly the built environment is. Something to write about another day.

Treatment for EDS is hard to come by. The paper recommends: 
...multidisciplinary co-operation and consulting with a cardiologist with echocardiogram monitoring every 2–5 years, orthopaedic surgeon with a follow-up once a year, oral and maxillofacial surgeon for temporomandibular joint involvement, gastroenterologist when gastrointestinal manifestations are present, ophthalmologist to rule out other connective tissue diseases and when ocular manifestations are present, urologist and urogynecologist when urologic manifestations are suspected, neurologist and neurosurgeon when prolonged headache is present to rule out Chiari 1, and psychiatry when anxiety and/or depression are suspected. Allergologic consultation may also be needed when there are multiple drug reactions and/or food allergies. An autonomic nervous system specialist should be consulted when signs and symptoms of POTS or other autonomic nervous system manifestations are present. Management includes physiotherapy and hydrotherapy aimed at symmetric and generalized muscle strengthening and proprioception acuity improvement, including deep connective tissue manipulations after each session, occupational therapy when wrists and fingers are involved, and cognitive behavioral therapy for proper adjustment to the chronic nature of the condition. Nutrition has an important role in treating EDS-HT, and nutritional deficiencies should be sought out and treated.

Wowzer, well that would be nice, wouldn't it? But the point of highlighting this paper is that people can print it out and take it along to their doctor. It's great that the Prof recommends this as a treatment standard, but it's another story when you're trying to persuade your local doctors to give it to you.

It also recommends hydrotherapy, which is one of the NHS's best kept secrets and when you find out about it, it only comes in blocks of six, which is when it's only just starting to show benefit for someone with a long-term condition. This really needs to be rethought, or at least the facilities could be rented out after hours, perhaps. 

This new papers' authors make an important recommendation in conclusion that until a gene or genes for EDS-HT have been identified, doctors must think about the possibility of the condition in every chronic pain patient and look for joint hypermobility, as well as the other multi-systemic manifestations the paper mentions. Do you think they will? Sadly, I doubt it. It's much easier  - and quicker - to send people (mainly women) having been treated for each symptom, as indeed I was for much of my life, than to consider looking at the patient as a whole. 

This is why charities such as The Ehlers Danlos Society exist, so that information about the different types of EDS can be publicised, patients empowered by knowing the symptoms and where to go for help and how to ensure they get it. And, most importantly, so that doctors can be educated in how to recognise, diagnose and treat it and be reminded that zebras can sometimes also be horses.  
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