A Genetic link for EDS 3? Or a desperate doctor needing answers?

I came across this doctor’s website via a Facebook link. It’s quite clear that she is desperate for answers as a sufferer herself and as such has devoted her work to finding out why she has gone from a healthy, outgoing type albeit a bit bendy and achey, to a physically disabled introvert with enormous anxiety issues.

Whilst this was an interesting read, it must be made clear that the medical journal that this was submitted to declined to publish her research.

An interesting and rather long read.
I was interested to see how she linked mast cell activation to possible genetic markers for EDS 3 which correlate to both hormones and the ability to react to acute and chronic stressors – not mental, but triggering EDS symptoms to worsen suddenly after a particularly bad infection which is what we think triggered my descent into merry hell, or a chronic infection such as Lyme which stimulates the genetic marker.

I share her desire for answers, but admittedly, whilst i recognise some of the anxiety & perfectionist traits described, I nonetheless resent her link with mental health and stress induced physical illness. There appears to be an insinuation that Mast Cell Activation is a consequence of an inappropriate reaction to stress.

http://www.rccxandillness.com/theory-for-patients.html

TLDR;
EDS 3 may be linked to a genetic marker.

That marker is linked to mast cell activation (MCAS).

This allows other issues to be activated at the same time (POTS, CRPS, CFS, MS).

The activation is caused by a stressor such as an acute or chronic infection.

Links to how progesterone are used to combat stressors explain why women are affected more often and symptoms worsten before menstruation.

Specific personality types are identifiers for those who may later develop chronic illness through EDS. ( :/ )

The marker identified also has links with specific mental illnesses.

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Just keep swimming…

As a general rule, when people do the whole “I don’t know how you stay so cheerful” speech I just look (and feel) uncomfortable until they’ve run out of metaphors. I just attempt to get on with life and splurge all my frustration out in my blog instead of at real people. But this evening I’m awake past a reasonable hour yet again and wondering if I just don’t sleep anymore.

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I’m not going to lie, despite it being half term and being at home, this week has been quite shit so far. We’d just got to a place where I could step back and assess the spoon situation and start looking at ways to maybe improve my health, then something unexpected and more than a bit scary starts tapping on the tank. Wake up fishy! Why are you sleeping?? Probably because I was blogging at 1am again.

I’m not my generally perky self right now. This could be related to having fully dislocated my shoulder last week which is still bothering me, this new work issue, increasingly dramatic looming threats of Ofsted and a general sense that I actually have no control over my personal standard of living. And there we have it in a nutshell. I am a control freak. I’ve lost control.

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Each morning I need someone to help me get up and dressed – I hate this, but it’s a fact of life. Right now, Mr Geek does this at a time and speed that generally suits my needs. What if he couldn’t do that? Do we have the financial reserves for a carer? Would the kids cope? If we did have to rely on a carer, could I be sure that I’d be ready for work on time every day? Would it be dignified or would I get yanked out of bed by someone constantly watching the clock and tutting at someone too young to be needing help from others?

My appetite is sporadic at best. I fly from nothing to everything and it’s not based on hunger, but my emotional state. I rarely eat from hunger anymore. What if Mr Geek wasn’t here to remind me to eat? He cooks the things he knows I will eat and that won’t make me ill. He sneaks vegetables into my soft, bland carbs. He accepts that me sipping on slimfast is better than nothing when my stomach doesn’t want to play. What if he wasn’t here to regulate my diet? Can I live on slimfast and gluten free pretzels?

Financially, we need me to stay working. We’ve looked at it objectively and are acutely aware that I’m fading fast in terms of stamina at the lower end of the year groups. Being in a chair doesn’t command the same type of authority as much as I used to and I arrive home exhausted. Where I once would put in another 3 hours of marking, I lay in bed on a heated blanket letting the oramorph do its thing. If Mr Geek wasn’t there to help me undress and crawl into bed, what would I do? I know the kids would help out, Tinypants has certainly helped me undress a few times and lives sitting in bed watching Netflix with me in our PJs. But how awful for them to not be shielded from my worst.

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We’d created a routine that had not only shielded the kids and the world from how bad things had got, but also me to an extent that I hadn’t realised before. Mr Geek does so much for all of us so discreetly that it isn’t until there’s the concept of him being taken away that it hits home.

It’s not just that I’d miss him (and I would, because he is my lobster), but this once fiercely independent woman actually can’t get out of bed without his help. Even if that’s because mentally, I’m not ready to let someone other than a very few select people see me naked. Of those handful, distance and health rather scupper any backup plans. Welcome to the inner selfish thoughts of the physically ineffectual.

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I wish there was a way to wave my magic wand and make everything better. I wish I could stick my usual fake smile on and keep going, but when Mr Geek being happy looks on rough ground, my lioness instincts kick in and I get frustrated that I can’t kick arses like I used to.

The previous me would’ve got angry. The current me just feels anxious and isolated.

The only thing to do is just keep swimming…

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Expect Zebras – The Chronic Condition App : Joints just got serious

At Christmas I got utterly overexcited about a concept App for EDS and related conditions. We created version 1.0 with some of the basic functionality, but no cross platform compatibility (it only works on Android phones) and only a few features. Still, it was a start.

This week with more dislocations & some inyeresting work antics has given us a firm shove towards creating the everso slightly more awesome product that we had envisioned. The concept is more complex than just an app and will shortly be appearing on Kickstarter (we’re working out our minimum goal right now as the biggest outlay is getting a whole load of wristbands & keyfobs printed & encoded).

As someone with EDS, POTS, CRPS and other fun that goes with it, I needed a fair amount of help organising my life (major brain fog altert!). As the possibility of a personal assistant was looking unlikely, we wondered if we could use our background in programming to create a solution. What if I could use my phone to record when I took medication? What if I could get a reminder when I’m due my next dose? What if my husband didn’t need my phone to see what I last took and when? Ooh what if that could be combined with wearable tech? [Insert nerdgasm here]… So we got going.

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Expect Zebras is a connected wristband (or keyfob), app & website trio allowing you to be an expert patient and fully in control of the management of your condition by putting your data at your fingertips. Allowing you to use objective data to give you the confidence to talk to your caregivers assertively whether they be your primary doctor, specialist, physio, or carer.

No more leaving appointments in frustrated tears because doctors won’t listen. Appeal to their natural scientist with clear data, presented in a medically understood format.

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The Wristband
Worn like a watch, and totally waterproof, this uses near field communication, much like your contactless payment card, except it gives you the ability to hold access to your emergency medical information through connection to a mobile device. In the event of an emergency, you can choose to have anything from just your diagnosis & next of kin phone number to full details your medication, routines, and scanned documents available via a mobile web page with a pin accessed via the back of the band. No app required, making it easy for medical professionals to help you quickly using just their mobile phone.

As you update your app whilst wearing your wristband, the data on your wristband updates too!

The App
Allows you to access and update your web account & will also allow additional functionality such as a panic button with current location via GPS which sends a distress SMS to your chosen next of kin or carer, converting photos of letters / medical notes to PDF files to create your own version of your medical notes. (I found this particularly useful last week when I was in A&E), or taking a video of your physio exercises to replay with a timer / rep count. For POTS sufferers, an additional feature of heart rate recorder & graph will be included for those with compatible phones.

The app will be free to download but will require an online subscription to save & backup data to the website.

Combined features with the wristband are to update the time & date when you last took regular medication with a reminder on the app for your next dose. Dates to remind of medical appointments, when to order repeat prescriptions, and allergies.

The Website
Whilst an app is great for data required on the go, the website provides a place to view your scanned files, reports on when and how often you are taking medication (coupled with your pain level ratings) recorded from the app.

From the website, you can download doctor, physio, and carer friendly reports in PDF format to print or email to your care provider. Your report will be customisable with filters for dates, symptoms and graphical analysis.

Combined features with the app & website will include medication taken can be updated by scanning a printable barcode for each. By sticking these onto your medication box or pill box and scanning each time you take a dose, you need not type in your medication more than once. By updating your “taken medication”, the app will record your time & date of dose and synch the data with the website & wristband.

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There’s a lot to do, and the wish list is extensive. But with a condition that on average takes 10 years to receive a correct diagnosis, sometimes you have to fight science with science.

To keep up to date with our progress, please visit and like our Facebook page: http://www.facebook.com/ExpectZebras  or follow us on Twitter – @ExpectZebras.

We also need help from people with chronic conditions to tell us what they want from the app : Please complete the quick survey to help here

Ehlers Danlos Syndrome for Dummies (and orthopaedic/rheumatology consultants)

I was asked to guest blog about EDS and all my weird and wacky braces. It’s taken me an age to get to it due to yet another injury and total brain deadness. But here it is.

EDS. Three little letters that took me from asking “how do I fix this?” to “how do I live with this?”.

What is EDS anyway? Endless Drug Schedules? Expected Drug Seeking? Every Dislocation Smarts? Expect Drastic Surgery? Excessively Declaring Sexytime?(some hope!) Oh, Ehlers Danlos Syndrome. Wait, what?

Ehlers-Danlos Syndrome is a group of inherited connective tissue disorders, caused by a defect in the synthesis of collagen. In normal person speak, collagen in a body is like cement and plaster in a house – it holds everything together and makes the walls smooth. If you have EDS, your genetic make up of your collagen is defective and this causes problems. Without the mortar, the bricks keep slipping and eventually all you have is a big messy pile of bricks asking for better drugs please. If your electrical connection also go squiffy, the signals through your house will also go wrong. Generally, for EDSers this means any connective tissue (skin, organs, muscles, ligaments, tendons….) is not so much elastic, but chewing gum. Things stretch further than they should and snap when they shouldn’t. Bones that should be connected to the next one find that they aren’t. Certain people also find that ironically the condition that causes so much pain also prevents the body from feeling all or some of the effects of many types of analgesia. It’s just the gift that keeps on giving!

Some people are just flexible, and that’s not a problem. Being flexible doesnt mean you gace EDS (in face having EDS doesnt mean you’re automatically flexible). The problem arrives when having a few freaky party tricks causes long term pain and injury. Just in time for Valentines, I noticed that I can make a heart with my shins just by letting my legs relax…. Mr Geek didn’t find this quite so romantic.

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Some with EDS find that with the correct braces and physio support, they can lead relatively normal lives, whilst others are entirely unable to work and spend a large percentage of their days bed bound. I count myself very lucky that I’ve been able to maintain my teaching job through a combination of every brace known to man, highly sensitive adjustments from my employer, travel assistance, my husband acting as a carer, and me being so bloody minded. This is not to say that I don’t have days where I cry and ask to just stop this maddness, and by Thursday without fail I am beyond exhausted and in more pain than I can tolerate, even with the drugs. But, I will keep working. I won’t be lost to this stupid syndrome. Not yet.

There are different types of EDS, and even then each type includes a whole spectrum of symptoms and impact. These range from Classical EDS with its stretchy & paper like skin with widened scarring, to vascular with its seemingly less intrusive symptoms until you include that whole pesky sudden death from massive heart failure. I was lucky enough to be diagnosed with type 3 (hypermobility) with a type 1 (Classical) crossover. Some doctors refer to type 3 as ‘benign hypermobility syndrome’. Sounds harmless? Here’s a list of common symptoms for type 3:

Frequent joint dislocation/ subluxation (partial dislocation)
Migraines
Chronic pain
Chronic Regional Pain Syndrome
Acute pain (from dislocation, muscle tears etc)
Chronic fatigue
IBS symptoms
Mitral Valve Prolapse
Intestinal Prolapse
Uterine Prolapse
Premature labour
Sight malfunction
Slow intestinal transit
Gastric paresis (stomach stops digesting)
Bladder paresis
… And others.

Benign eh? But that’s just the doctors who believe you.

I’d had strange joint pains from an early age, and have always made weird popping sounds as I move (like a nasty bowl of cereal) which were generally dismissed as just growing pains, then just attention seeking, then just pregnancy, then just poor fitness, then probably just osteoarthritis… As each went on, I acquired various joint supports that started as tubigrip and evolved to the fully hinged metal exoskeleton style braces I wear now in combination with a powered wheelchair. That was a lot of just being dismissed because doctors see the symptoms and aren’t well versed in putting together the puzzle pieces of a rare(ish) condition.

I have a number of supports that I couldn’t do without.

Robolegs – hinged leg braces that prevent the wonky knee seen at the top (that was taken after we’d yanked it back into place). And my trusty pill box which holds all the pills that prevent me chewing my own arm off.

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My wrist splints are now just part of me, and yet I have no photos of them?!

My inflatable neck brace gives me the ability to gently lift my head and take some pressure off of my cervical discs. This is one to be used with caution, especially amongst the more bendy people. The last thing we need is a neck injury.

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My more discrete neck brace, which is easily covered by a scarf. Particularly useful for travelling to stop the juddering rattling my head about.

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I was diagnosed at age 35 when a new GP saw me for yet another painkiller review after over a decade of asking for help. My mobility was becoming more and more affected by this strange joint pain and random injuries that seemed way over the top for minor trips or falls (like dislocating my pelvis by tripping over a rabbit hole! Or this week, dislocating my shoulder by transferring out of my wheelchair!). She had been reading my notes with a view of removing my long standing prescription of opiates, but when she saw me asked if I was able to do a set of tricks.

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Taking a set of photos of each new weird thing I discovered (that previously I had considered totally normal) prevented me from having to become a performing monkey at every appointment. Eventually, I created a behemoth of a mind map with these photos using a phone app and emailed it ahead of any appointment with a new medical professional.

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Some of the weird bendy stuff I do

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Not just bendy, but other freaky things like a high palette, sticking your tongue up your nose & the reverse namaste

I later found out that she was testing a thing called the Beighton Scale and that I scored 8/9, and it would’ve been 9 before slipping several discs & the rabbit vs. pevlis incident. Unlike every other doctor, consultant, physio, chiropractor and osteopath before her, and oh my there had been all of those and more, she recognised the signs of Ehlers Danlos, not because of any medical training, but because a friend of hers had been diagnosed with it.

Her colleagues however, were less inclined to agree and demanded a rheumatologist make a formal diagnosis and continued to refuse that I was in the daily pain I described. By this point I was using a wheelchair on a daily basis and was described to another doctor (in front of me, but over the top of my head) as having “taken to her chair” like being in this bloody thing was a lifestyle choice! Or, something out of a Jane Austen novel. In one particular appointment, I dislocated my jaw to show how easy it was. That worked.

It took over 6 months to see a local rheumatologist, in which time I had declined rapidly. It seemed that the virus earlier that year that had prompted me to visit my GP had been a catalyst for things to decline. By the time my local rheumatologist saw me, we’d already been privately to the London Hypermobility Clinic for advice & a diagnosis and instigated private referrals for autonomic testing and gastric complications. Arriving at my NHS appointment, I was exhausted from months of investigations and the dreaded disability paperwork that comes with getting ill. I was unsurprised that he confirmed the diagnosis, and by that point was used to doctors saying they weren’t experts (by now, the only ones who were charged more than a month’s salary for a 30 minute chat). What disappointed me was being discharged from his list to the pain management team with an assumption that’s all that is required.

So, those regular checks for potentially lethal mitral valve prolapse? Ignored. Investigation into why I can’t swallow properly? Not needed. Plan to deal with daily subluxed joints? Morphine & neuro blockers.

Doctors don’t like Ehlers Danlos. They signed up to fix people & we can’t be fixed. Instead we are shuffled off to be someone else’s problem.

One day, I’ll be more than just a drain on the NHS. Until then, despite my frustration with certain senior clinicians, I continue to support the junior doctor strikes, because it’s the front liners with smaller egos who listen, want to learn more, and ultimately stick me back together like a Lego creation to go and figh another day with the orthopaedic team. These dudes and dudettes are still perky after the longest of long shifts and mean that despite the odd moment where a limb tries to divorce my body, the nights I sit up blogging because x and y hurt too much to sleep, and the drugs that make my once trademark hair come out in clumps, I can get on with life. Albeit with some high tech adjustments.

Be cheerful. It irritates the crap out of people 😉

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My Dad – still being my dad 36 years on

What a strange concept. In a family who lives geographically close (in the same house!), we share very little emotionally. As a rule, we’re very British with our stoic attitudes, stiff upper lip, and if need be outright denial. But for a brief moment this evening, my dad and I had a real conversation.

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He’s been very practical about me losing my mobility, but I confessed to him how hard its been to accept using the wheelchair so much despite the clear benefits its had to my pain levels. And he told me not to be so hard on myself and how hard it was seeing me in increasing levels of pain.

This might be a standard conversation between most parents and their offspring. Certainly, we talk to our albeit much younger kids and never end a day without “I love you” even if its met with door slamming teen style. But that’s not a mirror to my parents. Whilst I take many cues from my parents (hey, they didn’t do a bad job!), the softer side of my parenting comes from Mr Geek’s family. I heed their advice on how to roll with the punches of two preteen daughters.

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There’s nothing more insane than a family, and even more so mine. My mum has softened over the years, and although she remains the queen of denial, is more open than ever. Much like her grandmother, she’s at liberty to be softer now there are small(ish) people who look to her for cakes and hair brushing. My dad on the other hand has become harder. We used to sing together when I was a kid, either by playing his vast collection of vinyl or with guitars. When we go away, I still end a phone call home with “love you”… But he doesn’t respond. Weirdly, whilst that smarts, I know that’s just him – he shows it in other ways like building Mr Geek an office from scratch, getting my stairlift installed, making doorways accessible for me… But rarely talking. So when we do, it’s great. My Dad is still there.

One thing that’s come out of me getting ill (is it ill when it’s a syndrome? I don’t know.), is that the house is more harmonious. When I was hiding how bad things were there were arguments over being untidy and unsociable (going to bed at 8 because, well pain = knackered), but the pieces of the puzzle appear to have fallen in and whilst I still put on a brave face along with my big girl knickers and get out there to keep working, I can be much more honest about how affected I am by being in chronic pain. Case in point, writing a blog at 3am because my legs have some kind of lightening storm going on and getting up to pee set off other bits (I really wish oramorph was a bit more effective). Tomorrow will be another 13 hour day at work, but I’ll suck it up knowing people will make allowances as I recover on the following days. 

It doesn’t matter if I can’t dance, by breaking the pain cycle of hiding how bad it actually is, I’m coping better. I state my pain levels as a fact, don’t dwell on it, then laugh at how it takes two of us to make a smoothie! Who knew that  I’d be up at now nearly 4am and actually be OK with that. Take this as a metaphorical ‘hold my beer’,I’m going to try throwing all my spoons in the air 😉

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Watch this space.