Weekly roundup

My laptop is poorly, so is going away to be made better.  I wish it were that easy for me – a bit of soldering and I’d be good as new 😉  So you won’t get a blog post for a week or two until it’s back as I only have my miniscule smart phone and can’t type on that as my thumbs are too big!

I had an absolutely awesome day last Tuesday.  I decided on a whim to dump the dog with my parents and drive to the coast, to a local aquarium.  I spent 2 hours there with my camera (it’s brilliantly disabled friendly) then had a tootle round to the sea, nearly being blown away by the hurricane stiff breeze in the process.  On the way home I called in at a local Stone Circle to take a couple of snaps and arrived back at my parents absolutely and utterly knackered and so stiff I could barely move, but happy as a pig in muck 🙂

This week was the anniversary of Bertie’s adoption.  Six years ago I went to see this timid, frightened, unkempt little chap in the rescue centre and fell in love.  The first month I had him was such hard work and made me so ill I nearly sent him back, but was so besotted I already couldn’t imagine my life without him.  Thank God I stuck it out, though wouldn’t like to tackle that first year again in a hurry!  We are now best buds and a real team.  We are together virtually every minute of every day and he enriches my life in ways I could never have imagined.  Without Bertie, I would never have even bought a camera so he is also responsible for me taking up photography, without which I now can’t imagine my life.  I LOVE HIM to the moon and back, and tell him so ten times a day.


I also love my little cottage, but know that as I age and my already dodgy body gets even dodgier I’ll probably end up a wheelchair user and my house wouldn’t accommodate wheels.  So for a while now I’ve been looking for a one story cottage or bungalow to buy.  There is a ridiculous lack of such houses in the countryside, let alone ones that aren’t too near neighbours so I can rest quietly in the afternoons, and those that are around are so expensive they are well out of my price range.  This weekend I went to look at a little property that would be *ideal*, however it has been boarded up for 4 years and needs a shed load of work to get it even habitable, which doesn’t bother me having already renovated 2 houses but I’d have to sell my current house to pay for it and then would have nowhere to live while the work was being done.  Dilemma!  And one which needs considerable thought in the next 4 weeks before the auction, at which I’ll probably be outbid anyway!!

All for now my friends.  I’ll be back when my laptop is fixed.

Further thoughts on the new Criteria

Now I’ve had a few days for the new EDS criteria to settle in, I thought I’d clarify a few of my thoughts and why I had such a negative reaction.

My biggest gripe is that the new criteria for hEDS focuses solely on skin and joint issues.  EDS is a disorder of collagen.  Collagen makes up our entire body, from veins to bowel, eyes to hair.  To say there is not enough evidence for issues like gut symptoms or POTS to be included in the diagnostic criteria blows my mind.  I don’t know one single EDS patients who does not have some form of gut issue and I know people who are tube fed due solely to their EDS.

In the webinar, the speakers are at pains to point out that systemic symptoms are well covered in the paper (now online here).  The paper which, by the way, is 245 pages long.  The paper does state that systemic symptoms should be taken into account when diagnosing hEDS ” the presence of such systemic manifestations may prompt consideration of hEDS in the differential diagnosis” in which case they should have been included in the diagnostic criteria.  The speakers say that the whole point of revising the EDS criteria was to make it simpler and for any doctor to be able to diagnose the condition.  Which time-strapped NHS GP or general physician is going to wade through a complex 245 paper when they have no particular interest in EDS (which is now going to be considered so rare they might only see a couple of cases in their entire career)?  Most Rheumatologist in the UK still know zero about EDS and they’re supposed to be the “specialists”!

The speakers say that they might produce a simple app in which you can tick some boxes to see if you have hEDS.  Will this app take you to the multiple sections on all the co-morbid symptoms?  No, of course it won’t.  The co-morbid symptoms will simply be ignored, making life much………oh so much……..harder for those with the condition.

My second gripe is not updating the Beighton score.  Being able to bend thumb to wrist appears 3 times in the new criteria (in both bits of Criteria 1 and also in Criteria 2).  My thumbs are seriously hypermobile, but bend the other way for heaven’s sake!  I can’t bend them to my wrist, but they bend outwards by 90 degrees (and are so painful they need splints due to a lifetime of over-extension).  But the lay-doctor will ask me to touch my thumb to my wrist, see I can’t do it and fail me.  Only the well-informed doctor will look at the fact my thumbs are hypermobile, they just bend t’other way (I have personal experience of health professions sticking rigidly to the Beighton score and not accepting my joint hypermobility because it didn’t fit ‘exactly’).  If these new criteria are supposed to make it easier for any Tom, Dick or Harry doctor to diagnose hEDS they fail spectacularly.

My third gripe is the 12 point list in Criteria 2.  I have atrophic scaring following my spinal surgery, but that’s not enough to fulfill point 6 in the list.  I apparently have to have two atrophic scars.  Sadly I became allergic to anaesthetic due to my MCAS (as a result of having EDS FFS!) so can have no further surgery as I might die.  So if you’ve never had an operation, or fallen and taken the skin off your knees, how do you prove atrophic scaring?  I’ve had a hiatus hernia for years due to my EDS which has been so painful it’s actually made me contemplate suicide, but this doesn’t fit for point 5 which relates to acute hernias.  Point 9 refers to being able to place thumb to wrist, but as mentioned above I’d fail this despite having hugely hypermobile thumbs.  I also take issue with point 7, which discusses uterine prolapse but only in “nulliparous” (ie  child-less) women.  75% of the female population have children for god’s sake, so even if your womb is hanging out your vagina you wouldn’t pass this because ten years ago you’d given birth.  Jaysus!!!!!

I did learn something about myself though, and it’s that I have Piezogenic papules of the feet.  No Doctor has ever looked for these and it’s almost impossible to look for yourself, so I got my Mum to check and yes I do have the white fat nodules when standing.

If I saw a Rheumatologist who specializes in hEDS I’d probably comply with 7 out of the 12 points and pass Criteria 2.  However, non-specialst Doctors would fail me because, as with the Beighton Score, they’d be too rigid in their assessment.

My fourth gripe also covers Criteria 2 and is about proving family history.  What if you’re adopted?  What if, like me, you are no longer in contact with your paternal family?  What if, like me, your parent is ill and can’t (or doesn’t want to) pursue a diagnosis?  What if your parents have died?  What if you are an only child and have no siblings?  This must be the worst section of the entire paper and is hugely discriminatory to anyone but the bloody Waltons Family!

My fifth gripe is about Criteria 3 and having other conditions excluded.  Good luck with that on the NHS!  I had to travel 100 miles and pay privately for a 15 minute appointment with a Rheumatologist who’d even heard of hEDS (her NHS waiting list was closed to new patients as she had so many people wanting to see her) just to get a diagnosis.  On which planet is an NHS patient going to get to see a handful of specialists in their field (haematologists, dermatologists, geneticists, neurologists) to rule out every other cause of their symptoms?!  No offence, but you can tell the American influence on the writing of the paper from this Criteria.  You want genetic testing over there you find a doctor, pays your money and gets it done.  The UK just doesn’t work like that, and what about patients in Africa or India where it’s not even an option?

The more I think about the new hEDS criteria the more angry and upset and frustrated I become.  Thank God I already have a diagnosis and according to the webinar speakers there is no need for this to be re-evaluated, but for all those out there still searching these new criteria have muddied the already dirty waters.  What was the reasoning for making it harder to gain a hEDS diagnosis (which the speakers at the webinar clearly state was the goal?).  I would guess that many people with hEDS are now going to be placed in the Hypermobility Spectrum Disorder (HSD) category.  The reasons for separating hEDS from HSD is stated as being that they require different management strategies and it will help further research.  But if people with actual hEDS are not being diagnosed and placed in the HSD category it means they won’t get the treatment they actually need and the research will be skewed.  I’m not sure how that will further the cause of either condition.

I sound like a proper negative Nelly on the new criteria, but my view is skewed by over 2 decades of seeing the same fight for good diagnostic criteria in the M.E. world.  We eagerly awaited each new criteria (and I think there have been 7 so far in the past 22 years) only to be gutted that they were still basically not fit for purpose and didn’t separate CFS from M.E. which, like EDS and HSD, meant that patients weren’t adequately treated and any research wasn’t worth the paper it was written on.  I am heartened, however, that the new EDS diagnostic criteria are stated as being “provisional” and can only hope that the Beighton score is revised as a matter of urgency.

Scottish Independence

There are times I feel like the world is going mad.  This week has been such a week, with the soul destroying (IMHO) new EDS diagnostic criteria and Nicola Sturgeon calling for a 2nd Referendum on Scottish Independence less than 3 years after the first one.  I live just 30 miles from the Scottish border and travel regularly into Scotland.  My best mate’s husband works in Scotland yet lives in England and I know farmers who live one side of the border yet whose land crosses onto the other.   None of us want another Referendum and I haven’t spoken to anyone yet who does.  I couldn’t care less whether Scotland is its own country or stays as part of the UK – it has little bearing on me personally apart from theoretically having to produce my passport when I go up the M6 – but the timing of this current announcement sucks for all concerned.

Nicola Sturgeon has dreamed of an independent Scotland since she was 15 years old.  This is a personal crusade to her and her political raison d’être.  She is obsessed, and her pushing for a 2nd referendum has nothing to do with what’s best for Scotland – I hope the Scottish people realize this, even if they are pro-independence.  The choice appears to be to leave a 400 year union with the 5th richest nation in the world to join a 40 year union which contains two essentially bankrupt countries.  Alrighty-then.

The excuse for wanting a second referendum (and it is an excuse) is that during the EU Referendum Scotland voted to remain in Europe.  So did London, but it doesn’t mean London should become its own country (even though at times it acts like one!).  Democracy means accepting the will of the majority, even if you don’t like it.  You can’t have a second go just cos you didn’t like the result of the first – it’s not best of three.  That aside, if Scotland left the UK tomorrow it would not be entitled to simply remain in the EU anyway – it doesn’t work like that.  It first has to extricate itself from the UK, which could take a decade.  Then as a newly independent country it has to apply to become a member of the EU, which could take at least another 4 years even if Scotland is ‘fast tracked’ (this has been confirmed many times by EU leaders).  So what the current rush is about I have no idea.

Being a member of the EU depends on strict criteria, one of which is being part of NATO.  If Scotland became independent tomorrow they would not be a NATO member, as it’s the UK who belong to NATO and Scotland would not be in the UK.

In addition, there needs to be particular fiscal policies in place.  The budget deficit needs to be 3% of GDP and, with the current plummeting of oil prices, Scotland’s deficit currently stands at an estimated 8% of GDP.  Scotland wants to break away from the UK yet retain the £ and the services of the Bank of England.  Talk about wanting your cake and eating it!  The fact that Sturgeon has made life soooo difficult for the UK Government during its Brexit strategy by calling for this 2nd referendum will probably mean that Theresa May is going to tell her to get knotted over the currency issue, which leaves an independent Scotland without any form of cash.  They won’t be a member of the EU for some years, so can’t use the Euro, and will no longer have the Pound.  Good luck with that.

There are also some issues which don’t make the headlines but which are, nevertheless, really important for Scotland to consider.  There’s the small matter of debt.  Even if it gains independence, Scotland will have to repay its share of the UK’s £1.7trillion debt.  If it joins the EU it also takes on European debt caused by the bail-out of Greece and Ireland.  The UK has over 60 million people, all paying taxes – it can afford this level of debt.  Scotland has only 5 million people and a much smaller pot to pinch from.  And speaking of taxes, for every £100 raised in taxes in Scotland it spends £127 and can only do this because the shortfall is made up from UK coffers, which of course wouldn’t happen if they left the UK.  In order to bring down spending an independent Scotland would have to make some radical decisions, eg abolishing free University tuition and prescription fees.  In other words they would have to enter a new phase of austerity.

It appears some Scottish voters think that if they vote for independence they will immediately be independent and nothing is further from the truth.  It will take years to negotiate terms and to sever ties from the UK, by which time we will have left the EU and the world will look very different.  If I were Scotland I’d want to see how this played out before deciding the future of my country.  Independence is not the rich and free Utiopia portrayed by Sturgeon – I just hope the ordinary people of Scotland realize this when making their choice.  I hope for their sakes they do some reading up and not just from the side they favour.  I hope they look at independent sources of information and both sides of the argument.  It’s a massive decision and one which they can’t take back if it goes belly up.  Yes this post looks at the negatives of leaving the UK and not the positives (I’m sure there are some, I just can’t find them!) but that’s because Sturgeon only mentions the good bits and does it with such passion and fervour it’s hard to see past the rehetoric.  But see past it Scotland must, because no matter how flat you make a pancake it has two sides – the top might look perfect but when you flip it the underside could be burnt and inedible.

2017 New EDS Diagnostic Criteria

It’s been a big week for Ehlers-Danlos Patients, with long awaited new diagnostic criteria being agreed by leading Doctors and patient organizations.  A webinar, with slides, on the new criteria is available on Youtube and, although still stupidly technical in its wording, is easier to understand than reading the paper.

I’m summarizing the new three part criteria below and giving my own personal view and how it relates to me as an individual.

Criteria 1:  Generalized joint hypermobility using the Beighton score

As I’ve mentioned before on my blog, if my Rheumatologist had used the Beighton score I would never have been diagnosed with hEDS.  I can’t touch the floor with flat hands, can’t bend my thumb to my wrist and my knees don’t hyper-extend backwards.  My thumbs do however bend outwards by almost 90degrees, my toes and ankles are hypermobile, my jaw is hypermobile, my spine and hips are hugely hypermobile as are my shoulders, but these particular joints don’t appear on the Beighton score.  So I’m totally unconvinced that untrained medical professionals – and the majority of health professionals are untrained in EDS – will diagnose more patients based on this “new” (but unchanged!) criteria.  The Bighton Score desperately needed to be changed and the fact that this didn’t happen will forever baffle me.

Criteria 1 now also includes a new 5 point questionnaire, however 2 of the questions simply repeat the Beighton Score, ie can you touch the floor with flat hands or bend thumb to wrist – what’s the point to that?!  Rather than repeat the Beighton score, surely the 5 point questionnaire should have been things like: party tricks, being double jointed, a positive Gorlin’s Sign (ie being able to touch tongue to nose), the Reverse Namaska Sign and being able to do the splits.  I only match 2 of the new five point questionnaire (party tricks as a kid and being “double jointed”) so, based on the new Criteria 1, I would not have been diagnosed.  Great.

Criteria 2:  two or more of the following must be present

  • Systemic manifestations of a generalized hypermobility disorder: there are 12 ‘manifestations’ to choose from and at least 5 must be present.
  • Positve family history.
  • Musculoskeletal complications.

I fail spectacularly on the systemic manifestations.  Out of the 12 criteria I only have 3: velvety skin, skin hyperextensibility and dental crowding/high roof palate.

In respect of family history, it took 42 years and a battle for me to get diagnosed with EDS let alone any of my relatives.  None of my immediate family have been tested, despite my Mum and brother having symptoms.  I can’t persuade either of them to pursue a diagnosis because my brother isn’t sick or in pain so he’s not interested and my Mum is nearly 80 and dying from 3 other conditions so isn’t interested.  In light of this how do I prove a family history?!

I fulfill all the criteria for ‘musculoskeletal complications’ so that’s something at least!

Criteria 3: the exclusion of other disorders

When I was diagnosed no other connective tissue or laxity disorders were even considered let alone ruled out as far as I’m aware.  I had a 15 minute consultation with a Rheumatologist knowledgeable in EDS and diagnosed then and there, which is the experience of most patients in the UK.

My Conclusion

While I deeply appreciate the time, work and effort which have gone into the new, stricter, diagnostic criteria I have to admit I’m hugely disappointed.  That no co-morbid symptoms have been included is truly heart-breaking.  I had my first bowel problem aged 3, decades before my joints began to play up.  I don’t know anyone with EDS that doesn’t have gut issues, yet apparently there is “not enough evidence” to include gut symptoms in the diagnostic criteria.  Just speak to patients, you’d find all the evidence you need!  No mention of POTS or dysautonomia, chronic fatigue, migraine/chronic headache, eye problems like astigmatism, excessive floaters or blue sclera and no mention of terrible proprioception (causing clumsiness) all of which if you speak to patients are very common.  And if they aren’t mentioned in diagnostic criteria you can bet your life they won’t be treated, and treating my co-morbid symptoms, in particular gut problems, is more important to me than my joint hypermobility because they are much more troublesome.  In the webinar, the speakers say that co-morbid conditions have not been left out and lots of time was taken to include managing them in the papers.  But here’s the reality – they have been left out of the diagnostic criteria, so uninformed doctors will say “they’re not related” and not take them into account when treating EDS.  It’s been hard enough all these years to prove that gut issues, chronic fatigue and spinal instability are part and parcel of EDS for most patients and all this work is now undone.  To think otherwise is naive.

No mention of a positive Gorlin’s sign which demonstrates lax tissue unassociated with a joint.  No mention of a positive Reverse Namaska sign, which demonstrates hypermobility of shoulders (which are excluded from the Beighton Scale). And most importantly, no mention of mast cell activation disorder, despite one leader researcher hypothesising it might affect as many as 1 in 10 EDS patients.

Whilst I understand there isn’t a huge amount of research evidence into the cause of these “co-morbid” symptoms (they’re not ‘conditions’ in their own right as specified in the paper, they are symptoms of EDS!), there is so much patient evidence that IMHO there should have been a section listing these symptoms and they should have been taken into account alongside the major criteria.  Collagen is present throughout the entire body for heaven’s sake – to think that when it goes wrong only joints and skin would be affected is ludicrous.  Leaving out the common systemic symptoms of EDS is, IMHO, hugely damaging to the patient population.

Based on the above, if I were to see my Rheumy now I’d fail the new criteria.

  • On Criteria 1: I don’t score enough on the Beighton score because my affected joints aren’t listed, and I only score 2 from the new 5 point questionnaire.
  • On Criteria 2: I only score 3 out of the 12 criteria.  I can’t prove a family history, though I strongly suspect it.  I fulfill the musculoskeletal criteria.  So if I can’t prove my family history I fail on Criteria 2.
  • On Criteria 3: I was never tested for other disorders, so I fail on these being excluded.

So as of today I no longer officially have hEDS.  Only of course I bloody do, and that’s a huge problem.  Even my Rheumatologist said I was a text-book case!  The whole point of the new crtieria is to make diagnosis easier and able to be performed by any doctor.  However, if I were trying to get diagnosed today I’d still need to see a Rheumy very clued up on EDS who didn’t stick strictly to the Beighton score but took other joints into account too.  If that happened I’d pass Criteria 1.  If the Consultant took time to take a detailed family history I’d probably pass Criteria 2 – but being as though most consultations take less than 15 minutes that’s never going to happen.  Ditto criteria 3, at least not on the NHS in Britain.  Rheumatologist don’t know enough to rule out other diseases which aren’t usually classed as under the rheumatology umbrella, so I’ve no idea how anyone here in the UK is supposed to fulfill criteria 3.

For patients not meeting the new criteria there is now a new diagnosis: Hypermobility Spectrum Disorder (Joint Hypermobility Syndrome has been relegated to history).  Only I don’t fit this either, so if I were chasing a diagnosis today I’d be left out in limbo, which is what this new diagnostic criteria is supposed to avoid!  God help us all is my response to the new criteria and today I literally want to burst into tears in despair.

Weekly roundup

My week began well.  I’ve re-started the Spatone iron water but just in small doses and am not experiencing the intense nausea and stomach pain that I did on the full sachets.  My poop is definitely softer than usual but not runny, so that’s also fine.  I’ll gradually increase up to a full sachet in the coming weeks and see how it goes.

Most of Tuesday was taken up by having Bertie clipped.  I used to do it myself but by the time he’d been showered, dried, brushed and cut three hours had gone by and I was in so much pain I was literally in tears.  Luckily for me, a lady who came about my Cleaning job last year used to do dog grooming, so she agreed to come to the house to clip Bert for me.  I still shower, dry and brush him and then she does the hair cut.  It’s such a relief, though still exhausting.

Last August I went with my Camera Club to a local deer park to take some photos.  It absolutely chucked it down, was dark as night and under those conditions it’s difficult to take any kind of photo without using flash which we were asked not to do, so I transferred the images to my laptop and promptly forgot about them.  Weds I had a couple of hours free so I decided to sort through them and had amazingly managed to take a couple of half decent shots which were made more decent with the help of my trusty friend Photoshop:

Thursday my Mum had a hospital appointment to be assessed for supplemental oxygen.  What a bloody farce that turned out to be.  Our appt was for 2pm and dead on time she was taken to be weighed, her lung function measured and a chest x-ray performed which took us to 2.20pm.  Then we sat, and sat and sat some more.  At 3.10pm we were taken in to see a Registrar, who looked like he was barely out of nappies and didn’t even have her patient file – he therefore had no clue why Mum had had a lobectomy and had no info on her 5 year history of COPD.  Despite this lack of vital knowledge, and going off a 2 paragraph referral letter from her GP despite Mum’s complex and long-standing medical history, his recommendations were:

  • Mum didn’t need any oxygen.  I’ve no idea how he assessed this as her sats were only taken while she was sitting down doing bugger all.  She is always fine sitting down doing bugger all – we did explain that her severe breathlessness happens after activity, like dressing or showering.
  • He wanted to take her off her steroid inhaler, despite the fact it took nearly 8 months for the specialist lung nurse to find a set of inhalers which actually worked for her.
  • He wanted to add a drug for her heart, despite the fact that we’d already tried two different drugs which make her faint regularly so her specialist heart nurse took her off them.
  • He prescribed cardio-rehabilitation physiotherapy, despite the fact Mum is in heart and kidney failure and has terminal and severe COPD.  There’s no way on God’s green earth Mum can do rehabilitation physio – what fucking planet was he on?!

He asked if I had any questions and I, politely, told him I disagreed with almost everything he’d suggested.  So he said he’d have a word with the actual Pulmonary Consultant.  He left and we sat in his office for another 20 minutes while the Consultant finished with her patient, all the while the Registrar was waiting outside her door doing bugger all – honestly, someone needs to do a time &  motion study on that clinic because the current set-up is a total waste of precious resources.

Like me, the Consultant disagreed with everything the Registrar had suggested, and she advised:

  • An ambulatory oxygen assessment.
  • Mum remains on her current inhalers.
  • No heart meds needed.
  • And it was unreasonable to expect Mum to do a 40 mile round trip every week for physiotherapy and as yet there is no pulmonary rehab facility in her home town.

FFS!  So we are now to wait for her oxygen assessment which was all we’d gone for in the first place.  All in all the appointment took nearly 2 hours when it realistically could have been done in less than 45 minutes.

The stress and effort of the hospital trip, including having to push Mum up a hill from the car park in her wheelchair as there are only 8 disabled car spaces  which are always full, meant I spent all of Friday with my neck in spasm, the room spinning and a niggly thumpy migraine which is still thumping away 48 hours later.  Yay.

Today I am going out for lunch with my Bestie and really looking forward to it. Having a dog is a bit like having a permanent 2 year old child (feeding, walking, playing, disciplining, cuddling, wiping feet and beard 10 times a day, remembering not to leave the yard gate open,  worrying what he’s up to when he’s gone too quiet, even putting on his harness and strapping him in his car seat!), so much as I adore Bertie it’s nice to be away from him for the afternoon and to have some time just for me.

 

 

You matter

This is me, in my jim jams, living life from my usual horizontal perspective.  My home is a little cottage, in an even smaller hamlet in the wilds of the Lake District, seven miles from my nearest supermarket, post office, cashpoint machine and petrol station.  I have not been to the Cinema since the last Millennium and don’t own a smart-phone as I have no 3G (let alone 4G) mobile reception.  Academically gifted as I may have been as a child, my health put paid to my career  and I have not had a full-time job since 1994.  The only man in my life eats sheep shit and is covered in fur, and my only claim to fame is that when I worked on a luxury cruise liner the prolific paedophile Jimmy Saville once rubbed my back with suntan lotion.  It’s not much of a C.V.

When you’re chronically ill and not achieving the life goals that healthy people do, it’s easy to think that you have no purpose.  That your life has no meaning and that you have nothing to offer.  More than that, it’s easy to feel you are a burden to caregivers (should you be lucky enough to have them), a disappointment to parents and a drain on the nation’s resources (thanks to Government propaganda that all sick people are benefit scrounging fakers who could work if they tried harder).  I know there are times as I lie here in my bed that I feel completely invisible to the outside world, my gifts and talents wasted, uncertain of my purpose in a society which demands I be productive (or at the very least good at sport like the disabled athletes at the Para-olympics!).  That I am unloveable because, let’s face it, which man would want to take on my limitations and decidedly dodgy stands of personal hygiene? 😉

And then, out of the blue, I receive a little “thank you”.  From my Mum for spending 4 hours with her at the hospital yesterday for what should have been a half hour lung appointment (then we wonder why the NHS is broken).  From my bedridden friend for the birthday card I sent her.  From a total stranger for an article I wrote.   From another friend for sending information to help with her welfare benefit claim.  From my 90 year old neighbour for taking her round some gingerbread I’d baked.  From my Camera Club for producing a leaflet for our upcoming Photography Exhibition.  From one of you lovely people for writing my blog.   From my cousin in Australia for helping to organize a family dinner.  From my Dad for filling out his DVLA health form……..and I realize I contribute more than I thought.  OK, so I’ve not brokered peace in the Middle East but then I’m fairly sure Mahmoud Abbas and I wouldn’t have gotten on all that well if I’d tried 😉

I started this blog not thinking anyone would read it and I’m now on my way to receiving my 700,000th hit.  Little old me, lying here in the middle of absolutely nowhere!  It blows my mind.   I’ve had visits from Vatican City, comments from world-leading mast cell researchers, award-winning international Consultants and am followed by at least two Doctors to my knowledge.  Here I am, typing away on my laptop, in my bed, talking (for the most part) shite and often hormonal ranty shite at that, keeping half an eye on Eastenders……..and unwittingly educating medical staff on what it’s like to live with these complex and little understood diseases and hopefully making other sufferers feel less alone.  Small achievements, but arguably more important achievements than someone who works full time flippin burgers and contributing to the economy and coronary heart disease.

There are Orangutans in Borneo alive because of my monthly donation (brought about by a failed dalliance with the TV Vet Steve Leonard who sadly did not see my potential as the future Mrs Leonard 😉 ).  There are AIDS orphans in Africa who will be warm this winter due to the blankets and mittens I’ve crocheted for them.  And there is one very happy, healthy and spoiled rotten rescue dog lying snuggled contentedly into my side who seems to quite like me, though I do buy his affections with copious gravy bones and the odd chunk of mature cheddar cheese.

We sick people may not be contributing to our world in conventional ways, but we contribute never-the-less.  With contribute with understanding, compassion, empathy, invaluable knowledge and a perspective which can only be gained through the lives we lead.  From sick people like Jen Brea whose TED talk on M.E. has received nearly 1 million views in just 8 weeks, to little me reaching out to MCAD and EDS patients around the globe, to you all out there making your own unique difference to this planet we call home.  Together we matter.

Holes in diagnosis

I was diagnosed with Benign Joint Hypermobility Syndrome in 2010 when I was 43.  I scored 8/9 on the Beighton Score and had other clues such as “mildly” stretchy skin, mildly blue sclera in my eyes, life-long bowel issues, an overcrowded mouth and high roof arch, migraine, heart murmur, mild scoliosis in my spine, congenital spinal stenosis, easy bruising, skin which scars easily, skin which tears easily, a positive Gorlin’s sign (ie being able to touch tongue to nose), chronic fatigue and widespread pain for which no reason could be found. My Consultant said she only diagnosed Ehlers-Danlos Syndrome when there was “significantly stretchy skin” which I don’t accept as correct.  With a family history of the symptoms of EDS (which she didn’t ask about) and my collection of symptoms it was clear I have Ehlers-Danlos Syndrome and whilst I accept I don’t have freakishly stretchy skin, to me my skin involvement is not “mild”.

Photo of stretchy neck skin

Stretchy neck skin

My skin in general is a bone of contention to me.  As well as weird lumps, bumps, moles, pigmentation and scars I’ve had some strange skin on my knees and tops of my feet my entire life, yet when I’ve mentioned it to Doctors in connection with my Ehlers-Danlos it’s just been dismissed.

It doesn’t itch and no matter how much moisturizing cream I’ve ever put on it never looks any different.  According to Doctors it’s not eczema or psoriasis but then they don’t tell me what it is.  Needless to say I don’t ever wear dresses above the knee :-/  To me it points towards Classical EDS but then I’m not an expert so what would I know?

At the time of my Joint Hypermobility diagnosis I’d never sub-luxed or dislocated a joint, didn’t have GERD or a hiatus hernia to my knowledge and had no idea I also had mast cell disease.  However, within 2 years of diagnosis my mast cell disease was potentially life-threatening, I had walking pneumonia from undiagnosed silent reflux (which is now not silent in any way!) and had subluxed 6 joints.  When the Powers That Be say Ehlers-Danlos is not progressive IMHO they have no idea what they’re talking about.

When children and adults under 30 are diagnosed with Joint Hypermobility Syndrome I wonder if they, like me, actually have EDS and it just hasn’t progressed to the stage of meeting the criteria.  Of course, not everyone with JHS has EDS but as no data is kept it’s impossible to know how many younger people’s disease goes on to be re-defined as Ehlers-Danlos.

Another part of my diagnosis which with hindsight was sadly lacking is the fact that I was offered no genetic testing.  I personally think this should be compulsory for all suspected EDS patients, especially if there is a strong family history.  My brother is 6ft 2″, has eyes which slant downwards at the corners, much stretchier skin than me, had ‘growing pains’ in his legs as a child and had to stop a promising professional football career due to knee problems.  He has flat feet and a high roof palate.  As a child he used to ‘pop’ his knuckles and do robotics (a dance craze at the time) because he was hugely flexible.  Now in his early 50s he’s so stiff he can barely move, yet he’s never been ‘ill’ like I am or had any of the bowel issues, pain or fatigue that I do.   He definitely has Marfan’s traits but luckily for him they don’t seem to have affected his life to any extent.  As a child he had chronic bronchitis which was put down to a dust mite allergy (no idea how they worked that out as he was never given skin prick testing) but he apparently grew out of it.  He’s still allergic to dogs and horses though, oh and eggs.  Lots of children have allergies and some kids do grow out of them, but bearing in mind our family history of mast cell disease I do wonder if there is some connection.

My Mum was hugely flexible as a child.  She has soft, stretchy skin which scars and bruises easily.  She has pectus carinartum (aka pigeon chest) which is caused by defective connective tissue which holds the ribs to the breastbone.  She’s had reflux for 30 years and had lost 25% of the bone mass in her pelvis due to osteoporosis by the time she was 54.  She had a collapsed lung for absolutely no reason in her forties which is found in some types of EDS but not usually the hypermobile type, and horrible varicose veins which developed in her twenties.  She’s had 3 fatty tumours removed from her skin and has very wide stretch marks due to pregnancy.  She also has dupuytrens contracture in her hands, which is due to defective collagen.  I can find no data to connect dupuytrens to EDS, but as there is barely any statistical data on EDS to start with it’s not surprising that no-one is looking for a link.  It seems too coincidental to me that someone with EDS has a genetic, un-connected connective tissue disorder of the hands.  She has obvious mast cell disease, though not as severely as me.

Dupuytrens contracture

So my family history seems to be a mix of Marfans traits, Classical EDS traits, possibly vascular EDS traits and Hypermobile EDS traits.  Chuck in MCAD and other inherited diseases (familial essential tremor, dupuyrens contracture, early onset osteoporosis – all through the maternal line) and to me genetic testing should have been carried out.

I don’t know whether at this late stage to push for genetic testing or not.  I’m not sure what it would achieve, however it might help my future disease management if it shows I have classical EDS traits as well as hypermobile.  It would also obviously be beneficial to find out if my Mum’s collapsed lung was connected to her EDS or not and whether unexpected vascular events are something I need to be concerned about.

I get sooooo fed up of being my own Doctor and at having to fight for every blummin thing.  What happened to medical staff looking after me and telling me what I need, instead of the other way round? 😦