Tag Archives: connective tissue disorder

Aging, hEDS & Invisibility

I’ve rambled on a bit in this post, so you might need a brew and half an hour to spare 😉

As I’ve mentioned before on my blog it’s disappointing (I’m being polite) that there is virtually no information on the effect of aging on the hEDS population, despite the fact we’re all going to get old.  Quite why the over 50s are ignored when it comes to the management and progression of the disease is baffling because if we knew why some people’s illness progressed well while other’s progressed badly we’d know how effective management in younger adults actually was, but it still seems to be something none-one wants to explore.

According to the 2017 guidelines (known as nosology – why can’t plain english be used instead of medical jargon, the EDS charities need to improve on that) there are 3 phases to hEDS:

  • the hypermobility stage
  • the pain stage
  • the stiffness stage

though as far as I could determine this information is based on a pilot study of only 21 people, so why it made it into the new guidelines and is now relied upon by clinicians as fact is a bit of a  mystery.

Although I’m in agreement that, for most people, there are stages to having hEDS the 3 stages listed above don’t really tally with my illness experience.  In particular there needs to be a ‘menopause’ stage because there is overwhelming anecdotal evidence that many women don’t even know they have hEDS until they hit their 40s and their hormones begin to wane (I appreciate that men get hEDS too and their illness experience will be totally different).

For me, I had few symptoms of hEDS until I reached my late thirties.  Note I said “few” and not “none”.  I’ve had gut symptoms my entire life and I started having back pain at the age of 11 which resulted in surgery when I was 16, though it sadly didn’t cure the pain which has been ongoing ever since.  But on the whole, I was in the hypermobile stage until I was around 36.

For me the pain stage didn’t follow the hypermobile stage.  Nope, I skipped that and went straight to the stiffness stage.  Around my late thirties I noticed that my ankles were stiff in the mornings, to the point where I could barely walk to the loo.  Thankfully after an hour or so they loosened up but this was the first indicator that there was something wrong (I had no clue I had EDS at the time).  My back also stiffened up and I went from someone who could do backflips despite the ever present pain to someone who couldn’t bend to put her socks on virtually overnight.

At around the same time I was emerging from my 10 bedridden years with M.E. and starting to be more active.  It was then I noticed chronic, widespread pain.  It wasn’t joint pain, more an overall muscle pain which felt like my ligaments were tearing at even the smallest of daily tasks.  My fingers, wrists and elbows in particular burned constantly.

By the time I was 41 my feet and knees had joined in the pain party.  My neck was so stiff I couldn’t turn it to reverse the car and the range of movement in my hips had reduced down to 30% on the right side and 10% on the left.  When I suddenly starting sub-luxing my shoulder and jaw in my sleep I knew something other than M.E. was going on and fought for my EDS diagnosis.

Despite all the stiffness and pain, however, I remained hypermobile in my peripheral joints.  I can still touch my nose with my tongue, do the reverse Nemaska, bend my fingers to 90 degrees and do all the other party tricks I always have.  My hips, neck and back are a different kettle of fish, though, and the range of movement in my spine diminished rapidly the second I hit 40.

For me, the stiffness and pain stages happened simultaneously and I’m as certain as I can be that they arrived because I was entering peri-menopause.  There is an urgent need to study women with hEDS in their 40s because there are hormone drugs already on the market which might help stave off the deterioration which seems to happen when women reach peri-menopause.  The physio given to younger women simply doesn’t work when you’re middle aged and I find it infuriating that all the management advice is aimed at children and younger adults.  My muscles and ligaments have changed beyond all recognition as I’ve aged and there is a dire need to look at why and how we can best manage EDS in the middle aged and elderly.

I am now 50 and in the late stages of peri-menopause.  When I’m resting my pain levels are fine, apart from my back which hurts no matter what I do, but the second I start to do anything the burning and stinging in my muscles starts, consequently I can’t continue activity anywhere near as long as I could a decade ago as the pain simply becomes too much.  My stiffness has also ramped up a notch or ten.  Far from being confined to certain joints it’s now widespread and there are days when I can barely move first thing in the morning.  My body doesn’t loosen up anywhere near as quickly either and the stiffness lingers throughout the day.  I have to sit to put on socks and shoes, can barely move my head left or right, can’t chop vegetables, struggle to put on jumpers and walking the dog is like climbing the north face of the Eiger in terms of strain and effort.  I “uuuumpf” when I get up out of the chair and can crouch down to pick something up off the floor but can’t get back up again.  I literally have the body of an 80 year old.  Scratch that – my Dad is more supple than me and he is 80!

The only other information I could find about the phases of hEDS came from the UK’s Royal College of Physicians and states ” The final phase is the emergence of psychosocial sequelae such as anxiety or depression, obesity (often associated with comfort eating), work incapacity, isolation and despair. At this stage, there is often a downward spiral of loss of mobility, self-efficacy and self-esteem as the quality of life diminishes” though there is no citation or link to the research on which this statement is based.  Where is the hard data which shows that as we Zebras get older we all become depressed, obese and live in despair, because if that information isn’t available the Royal College should be ashamed of themselves for putting this crap out there.  For a start menopausal women tend to gain weight even among the healthy population (as do men over 50), so unless they can demonstrate via well-controlled clinical studies that weight gain is solely down to the progression of hEDS it is irrelevant, and for a second thing women tend to gain self-esteem as they age not lose it, it’s one of the few perks of getting old!  My body may have fallen apart during my 40s but I’m happier than I have ever been and have more zest for life, not less.  I’m so appalled at the statements made in this piece of mis-information I can barely bring myself to include it, but if this is what our health professionals are reading and basing their views on we need to know about it.  It’s a shame really because the article is otherwise sound, if now a little dated.

Going slightly off topic, the UK hypermobility charities are currently fundraising to research the effect of diet on the symptoms of hEDS and hypermobility spectrum disorders and I admit I am not happy.  We don’t even know the basics of these conditions, so to look at food intake as a means of treatment feels like we’re putting the cart before the horse.  There is no epidemiological information on connective tissue disorders (CTDs), ie how common they truly are in the general population, the ratio of the sexes, at what age diagnosis is obtained or anything about outcome.  We have no clue about progression, or how far the family link extends.  We don’t even test adequately – all people with suspected connective tissue disease should be gene tested, not least to rule out other types of CTD or Marfans’s Syndrome, and this data put in a bank for study – how else are we ever going to find the gene responsible for hEDS?  It’s this basic kind of information which forms the building blocks for research into any disease and data researchers often need when studying illness.  No food is ever going to cure my spinal stenosis or my dental overcrowding, my hernia or my genetic predisposition to Osteoporosis.   It also doesn’t help us understand why many people with hEDS also have mast cell disease, POTS or M.E., or why puberty and the menopause affects sufferers so profoundly, information much more vital and fundamental to our knowledge of EDS in my very humble, but hugely invested, opinion.  For the estimated 10% of us Zebras with MCAS, and who are usually on a restricted diet, altering the foods we eat may be impossible in any event.  Yes we need to look at treatment but only once we have a proper grasp of the disease, its incidence and progression.  Which isn’t as hard to do as you’d think.

I remember back in the late 1990s when very little was known about M.E. and severely affected  patients were completely ignored, Action for M.E. (Britain’s 2nd largest M.E. charity) sent out a survey with its regular magazine to all of its members and received approx 2,300 replies.  The results led to a report called ‘Severely Neglected: M.E. in the UK’ which was the largest ever survey done on the disease.  It turned much of the information ‘out there’ on its head, made a massive impact on our understanding of the prevalence and impact of severe M.E. and became hugely influential when NHS Clinics to treat patients were eventually established.  Over the last two decades, the ME Association have also regularly sent out questionnaires with their quarterly magazine on a wide range of topics, and run a monthly quick survey on their website for anyone with the illness to fill in not just members, all of which have helped our understanding of M.E.   Surveys aren’t difficult to do, although collating the data is time consuming, and I really don’t see why the EDS charities don’t do something similar – at least then we’d know some basic information, such as the percentage of men v women, how many people are receiving no treatment, what treatments people had found effective, progression and if ethnicity is a factor (which might help in the quest for the hEDS gene).

It appears to me, and obviously this is only a personal opinion and observation, that the EDS world shies away from asking the hard questions and I’m not quite sure why that is.  It’s great that children are being diagnosed with hEDS sooner, but appalling that older people are still being completely ignored despite the fact we are often at the more severe end of the spectrum as our bodies age and naturally deteriorate.

I’m fed up of being ignored.  I was ignored as a severely affected M.E. patients for years, as the emphasis was put on those at the mild end of the spectrum because they were well enough to campaign and be more vocal.  I’m totally ignored as an MCAS patient, receiving no monitoring or treatment whatsoever.  As an older person with hEDS I’m also ignored, for reasons I can’t quite work out.  And the fact I live in the north of England (by which I don’t mean Manchester, there is life beyond!)  with any of these diseases means I might as well not exist.  I can’t name one single EDS event which has taken place north of Birmingham and anyone living in northern Ireland or Scotland must feel completely invisible, a situation which is simply unacceptable.

 

 

Advertisements

Seizing up

When I was younger I used to watch older members of my family struggling to move because of joint pain and stiffness and thought smugly that I’d never end up like that.  I was so flexible I just thought it wouldn’t ever be an issue.  Of course I had no clue then that I had EDS or that I was actually more likely to seize up than other people, not less, and at a much earlier age.

The first thing to stiffen up was my back and neck.  I’ve had back pain since the age of 11 so have seen my fair share of physios over the years, but as I approached my mid thirties when they tested me to see how far back I could bend I realized I was struggling.  By the time I hit 40 I could still bend forwards to touch my toes no problem, but could literally only bend backwards a couple of inches.  I went from being able to do backflips to being as stiff as a board in the space of just a few short years.  My neck stiffness makes turning my head problematic and this causes issues when driving – I even struggle to turn enough to put my seatbelt on, let alone look behind me to reverse.

The next body parts to stiffen up were my hands and arms.  I found my hands cramped doing the slightest activity, like typing or chopping veg, and although my hands are still as flexible as ever the ligaments feel stiff, every movement strained.  Then for 2 years I had awful chronic “tennis elbow” in both arms.  The ligaments were obviously both severely inflamed and everything I did aggravated the pain.  And then suddenly the pain stopped and the stiffness set in.  It’s really difficult to explain the stiffness associated with my hypermobility.  I’m still, on the whole, much more flexible than healthy people but at the same time every movement feels like it’s straining ligaments which are already taught like piano wires.   I now wake every morning with seized up arms and have to give my elbows a good rub each day to get them going.  I also regularly wake with dead arms, y’know the feeling you get when you sit on your leg for too long – totally numb but with painful pins & needles.

In my mid forties my hips and pelvis started to stiffen up.   Exactly the same scenario as with my elbows.  They started with bursitis (ie inflammation) in both hips and then after about 18 months the pain stopped and the stiffness set in.  I can now no longer bend forward to touch my toes – in fact I can’t even bend forward far enough to put my socks and shoes on.  I get out of a chair with an “umpff” and walk like a constipated duck until my pelvis decides to loosen itself up.  My Dad does the same thing – the only difference being he’s 77 and I’m not even 50 yet!I

My current problem is with my feet.  I took them completely for granted until about 18 months ago when they started to hurt – you have no idea how painful walking is when your feet are playing up.  I’m currently in the inflammation stage with what’s called Metatarsalgia or sometimes Sesamoiditis depending on who I see.  I have burning pain underneath my first toe and the balls of my feet which at times feels like I’m walking with a shard of glass in my shoes.  I’ve tried 5 types of orthotics now and nothing has helped, in fact some have made it much worse.  I’m now waiting for the inflammation to subside and the stiffness to set in.  It’s already started and first thing in a morning I walk “ooching” and “owwing” across my hardwood floors like a 90 year old.

My pain and stiffness has always been worse on my right hand side (I’m right handed).  I think it’s because I subconsciously favour the right side of my body and it’s suffering the most wear and tear, but I could be wrong and it could be due to something else entirely.  When I was really ill with M.E. the right side of my body was always more severely affected, so it could also be a brain related thing.

I don’t feel I have arthritis per se and neither do the Doctors I see.  X-rays all reveal perfectly normal joints.  The exception is my back, where my MRI showed “mild” wear and tear arthritis but the neurologist said that was perfectly normal for my age and she probably had worse spinal arthritis than me!  My bones/joints don’t feel abnormal and don’t hurt – my ligaments, on the other hand, most certainly do which is no surprise given I have a connective tissue disease.  And despite the burning pain all my inflammatory blood markers and auto-immune indicators come back really low, which always surprises me.  As I keep saying, on paper I’m the healthiest sick person you’re ever going to meet 😉

I’d be lying if I said I wasn’t concerned for my future.  If I’m like this at 48 what on God’ green earth will I be like when I’m 70?  It doesn’t even bare thinking about.  It’s weird, though, that I’m seeing a pattern of symptoms: first comes about 2 years of chronic inflammation, then this largely goes and the stiffness sets in.  Being allergic to pain killers I prefer the stiffness to the pain, even though it limits my movement – at least it doesn’t keep me awake at night.

 

Weekly roundup

On Weds I had my appointment with Mum’s GP about her drinking.  She agrees with me that there’s nothing much we can do if Mum doesn’t want to change.  We did decide, however, that being as though she hasn’t seen Mum for more than 12 months I should suggest that Mum makes an appointment for a general check-up and the GP will subtly ask about her alcohol intake.  Obviously Mum is going to lie, so I’ll go in with her as I usually do and say “well, actually Mum you do have at least 3 drinks per day” which is the doctor’s cue to discuss the effects of drinking with her medication.  I’m then going to make an excuse to leave (which is easy, I can say “while you’re chatting with the doctor I’m just going to go and check my podiatry appointment”) so that they can talk without me there, as I’m sure Mum won’t be open about the situation in front of me whereas she might be more honest with the GP.  It’s a gamble and might not work, but it’s all we could think of to do at this stage.

While I was there (it takes about 6 weeks to get an appointment with my own GP) I asked about a referral to the Rheumatologist about my EDS.  I haven’t seen anyone since I was diagnosed 5 years ago, yet my condition has deteriorated markedly.  I’d like to know exactly what’s going on with my pelvis/hips/knees and spine considering I’ve recently subluxed a rib for no apparent reason.  Don’t know if the local rheumy will be able to help (he has some knowledge of EDS but I’m not sure how much) but I can only try.  I was diagnosed by Dr Ho in Manchester but it’s 100 miles away and my local health authority won’t fund an out of county referral if I can see someone locally.

My reflux is still barely under control and I have wicked stomach pains right throughout my digestive tract every second of the day, so I also asked for a referral to Gastroenterology.  My GP was reluctant, though, and suggested I try yet another drug for my GERD first.  What’s the bloody point?  I won’t be able to tolerate it and it won’t help my GI pain one iota *sigh*.

Also on Wednesday I went through to the hospital to be fitted with my new bite guard.  It’s snaps over my back molars using a metal spring clip, and the bite guard is made of hard plastic.  Eugh and double eugh!  I think I’d rather risk jaw pain than risk the metal clip damaging my already fragile teeth and I can’t see me using it.   I find this with just about everything I try – it might solve one problem but leads to a whole other problem and is generally not worth the aggro.

Other than that my energy has been quite ‘good’ and I’ve managed to get through the list of jobs my Mum had made while I was away on my stay-cation.  I’ve found her a replacement cleaner after the last one quit so that’s a relief, though I still haven’t got one for my own home consequently I’m living in a bit of a pig sty.  Ah, it’s only muck and a bit of muck never hurt anyone 😉

My exciting news of the week is that my Camera Club are holding an exhibition in our local library and two of my prints are included 🙂

 

Test results

I’m often asked about various tests I’ve had done over the years, so I thought it would be a good idea to list them all in one post.  It’s been 21 years since I first became really sick and in the early days I didn’t keep records – after all, I was going to be better in a year or two (!) – so this is by no means an exhaustive list of all the tests I’ve ever had done, but at least you’ll get the gist.  I’ve stated the year each test was carried out and imagine if some of the tests were repeated today the outcome might be very different!

Mast Cell Disease (all tests carried out in 2013)

  • Tryptase: 4 (normal range 0-20).
  • Methyl Histamine/Creatinine ratio:  140 (normal range 34-177).  However, at the time I’d been on a low histamine diet for 8 months and was also taking daily H2 antihistamines.  Without these my histamine would have been sky high, which is why Dr S still thought it “probable” I had MCAD.
  • Histamine Releasing Urticaria: negative.  Strange as my butt was covered in hives when I had the test done!
  • DAO: 7.2 (anything below 10 indicates Histamine Intolerance).
  • Total IgE: 4 (normal levels 0-75).  This measures allergic responses in the body, rather than a specific allergic reaction.
  • Skin prick allergy testing: positive for Birch pollen and mildly positive for dog.

Ehlers-Danlos (all tests carried out in 2011)

  • Beighton Score: 8/9.
  • MRI scan of lower spine: mild early osteoarthritis.  Mild scoliosis.  Previous Laminectomy surgery for congenital spinal stenosis (I was born with narrow spinal vertebrae which we now know is EDS related).
  • DEXA bone density scan: normal.
  • Heart scan for Mitral Valve Prolapse: negative.  However I do have a mild heart murmur.

EDS Gastrointestinal

  • Bowel transit study using Sitz markers 2009: normal (which means I didn’t have Gastroparesis then, not so sure about now!).
  • Faecal calprotein 2009: 10 ug/g (this stool test measures inflammation in the intestines, anything less than 60 ug/g is normal.  Again, it would be interesting to see what this test showed now).
  • MRI scan of belly 2013: normal.
  • Endoscopy 2013: positve for over a dozen benign polyps.  Negative for H-pylori, Ulcers & Coeliac Disease.
  • Physical exam by Rheumatologist in 2015 showed only 10% movement in my right hip and 30% movement in my left hip.

M.E.

  • EEG 1994: normal (this measures brain wave patterns).
  • ECG First one 1994, last one 2008: normal (this measures heart rate patterns).
  • Every blood test known to man: all normal, always!
  • Hormone levels First checked 1994, last checked 2014: normal.
  • Mycoplasma 2001: negative.
  • Chlamydia pneumonae 2001: negative.
  • Nerve conduction test 2014: normal (which rules out Peripheral Neuropathy).
  • Lyme Disease test 2013: normal (we have a specialist Lyme testing Lab where I live as Lyme is endemic in the Lake District).
  • Sleep study 2013: showed very poor sleep, but I don’t have the details.  No apnea.
  • Standing POTS test 2014: normal (!).

Other

  • 24 hour heart and blood pressure: normal (???!!!)
  • Cholesterol 2013: LDL 4.6., HDL 1.5., Total cholesterol 3.5 (anything below 5 is normal).
  • CT scan of sinuses 2006: inflamed but nothing abnormal found.
  • MRI scan of neck and head 1996: normal.
  • Chest x-rays, several: all normal.
  • Ovarian scan 2005: normal apart from a 2cm cyst, which was thought to be cyclical
  • Pelvic MRI scan in 2016: showed recto-vaginal endometriosis & adenomyosis.  Also confirmed exterior (penunculated) uterine fibroids and polysistic ovaries.

I’m probably one of the sickest ‘normal’ people you’re ever going to meet, which has been half the battle in trying to get my illnesses diagnosed and treated.  I suppose you can’t blame Doctors for thinking I’m a hypochondriac or some kind of nut case when all their tests point towards nothing being wrong.  Of course, they weren’t testing for the right things and when I was tested for the right things they showed up like neon lights – the validation was life altering.

There are several tests I’d still like to have done but probably never will.  I’d like some genetic testing.  I’d like a skin exam by a Dermatologist clued up on Mastocytosis.  I’d like an upright MRI scan of my neck and spine.  I’d like a stomach biopsy for mast cells.  And I’d like further blood and urine mast cell tests done, particularly at a time like now when I’m so reactive.  However, I can’t afford the mast cell tests and they’re not available on the NHS.  My GP is unlikely to refer me for gene, skin tests or another MRI scan as she won’t be able to see the benefit, but the way things are going with my GERD I might just get another endoscopy when I can ask them to stain for stomach mast cells and test for Eosinophilic Esophagitis.

Proprioception

I am a walking disaster zone.  The theme tune to my life goes something like this:

“Ouch!” – me walking into the door frame on my way to the loo after I’ve woken up.

“Owww-a!” me jabbing the door latch into my arm on my way back to the bedroom.

“Umpf!” – me missing a step on my way downstairs and only avoiding a fall by grabbing the banister, which then pulls the ligaments in my shoulder half off.

“Bugger it!” – me catching the edge of the table with my cup and sloshing tea everywhere.

“Ow, shit, ow, shit, owww!” – me stubbing my toe.

*Sigh* – me dropping the car keys.

“Ouch-a!” me banging my head on the door getting out of the car.

“For fucks sake!” – me slicing my finger open cutting an onion.

“Ow, ow, ow, ow, ow!” – me burning my arm taking something out of the oven.

“Bollocks!” – me missing my mouth and spilling POM juice all down my jumper.

“Umpf!” – me missing a step and falling back up the stairs.

“Ouch-a!” – me ricocheting off the door frame on my way back to bed.

“Hmmmm…..” – me lying in bed realizing half the skin is missing from my elbow and I’ve no idea how it happened.

As a kid, my Mum used to tell me “well slow down and stop doing everything at a hundred miles an hour!”.  It turns out that wasn’t the cause of my “clumsiness”, it was poor proprioception which is common in people with Ehlers-Danlos.

Proprioception is one of our senses and is the ability to know where our limbs are in space so that we can judge distance and movement.   It is based on receptors densely packed in the muscles and tendons.   Proprioceptors measure physical proprieties such as muscle length, tendon tension, joint angle and deep pressure. Signals from this sensory orchestra are then sent by nerves through the spinal cord to the brain, which continuously feeds and updates the sensory-motor maps of the body.  However, in EDS this feedback loop appears to be faulty.

It isn’t yet known why some people with EDS have poor proprioception but it may be that, due to tissue laxity, proprioceptors are unable to give the right feedback and the body is continuously receiving the “wrong” motor information about where it should be.  Certain exercises are designed to re-train the brain and improve proprioception and a good Physiotherapist should be able to offer guidance on this  – sadly they didn’t work for me but are still worth a go.

When you have EDS you just  learn to accept that not a day will go by when you don’t have a cut, graze or bruise.  It’s not very ladylike to put on a dress with legs that look like they’ve been trampled by a herd of wild elephants, but on the up-side I’m considering taking out shares in Germolene and Elastoplast – I’d make a killing 😉 .

 

Genes

I’ve touched very briefly on the hereditary factor of the diseases from which I suffer in this blog post, but for new followers I thought I’d go over the subject in more depth.  I don’t have any technical knowledge of genes – it’s something I keep promising myself I’ll read up on but it’s a very complex subject and I never seem to have the time or the energy – and to be honest it’s kind’ve irrelevant unless you’re planning, or already have, a family (I’m thankfully wayyyy past that stage in my life), but it’s still an important subject as genes hold the key to both cause and cure.

My Mom is one of 7 children, who all now have children, grand-children and in some cases great-grandchildren, so I have a large population to study in terms of my own genetic make-up.  My biological Dad, on the other hand, only has one sibling and my paternal family haven’t spoken to me since 1989, so it’s almost impossible to discover any paternal genetic markers.  I have one biological brother, who had no children of his own, and one paternal cousin who has 3 children (whose Mom thankfully looked me up on Facebook, so at least I’m in touch with her and can ask questions about the kids), so this information pool is very small.  Despite quite a large extended maternal family I haven’t found a single person who shares my disease traits, so I’m either a freak or I’m the post-mans 😉 .  I don’t wish illness on any of my family members obviously, but it’s incredibly frustrating to be the only one of 60 people who closely share my genes that’s sick in this way.

M.E.

Researchers are no further forward in unravelling the mystery of M.E. today than they were when I developed the disease back in 1994.  There is usually some kind of immune event, such as a virus or vaccination, involved but not everyone who catches a cold goes on to develop M.E..  Researchers guess that there is, therefore, some kind of pre-disposing factor which makes one person develop the disease and not another, and the most likely pre-disposing factor is genetics.

It’s no coincidence to me that people with Ehlers-Danlos are more prone to also having M.E..  As I state in my Canary post, and the follow-up Q&A, I believe mast cells are implicated in M.E. and of course people with EDS are more prone to developing mast cell diseases than the healthy population.  M.E. absolutely can run in families and I personally know of siblings who both have the disease, and parent/child who both have the disease.

Ehlers-Danlos Syndrome

EDS is a genetic disorder of collagen and there is a 50% chance a person with the illness will pass it on to their children.  I have a sneaking suspicion that both my parents are hypermobile, but that my Mom is the one from whom I’ve inherited EDS and my Dad is just bendy (though it’s hard to gauge as I’m not in touch with my Dad so can’t talk to him about his health).

The following traits in my Mom are the reason I think she has EDS:

  • Good at gymnastics as a child, ie very flexible.
  • Rubbish at sports.  I’m fairly sure her proprioception is off so she’s hopeless at things like catching or hitting a ball.
  • It’s impossible to gauge now if her joints are hypermobile, as she is very arthritic, but her thumbs still bend outwards at 45 degree angles like mine.
  • She has Pectus Carinatum (ie a ‘pigeon chest’) which is associated with EDS and Marfans Syndrome.
  • She has fine, translucent skin.
  • She bruises easily.
  • She has many signs of Mast Cell Disease (more on this later).
  • She had a collapsed lung in her mid forties for no apparent reason (a sign associated with EDS and Marfans Syndrome).
  • She has migraine with aura.
  • She lost all her teeth in her early 50s due to receding gums.
  • She had early onset osteoporosis (though this is common in my extended family, so we obviously have the osteoporosis gene and it may not be connected to EDS).
  • Very long standing GERD (ie. reflux).
  • Chronic nausea.
  • Motion sickness.
  • Local anaesthetics don’t work at all.  Neither does light sedation, eg. valium.
  • Severe stretch marks after pregnancy.
  • Frequent nose bleeds.
  • Narrow ear and nose canals.
  • Dupuytren’s Contracture – this isn’t as yet linked to EDS, but it’s another genetic connective tissue disorder and I’ve come across other people with EDS who also have DC in the family!

As far as my Mom is concerned the list of EDS suspects is quite long.  However, she’s never suffered from sprains or strains, has never had a partial or full dislocation, no prolapses, no chronic fatigue and apart from her osteoporosis no pain, so if she does have EDS it’s to a lesser degree than me (for which I’m truly grateful).

My Mom asked my biological brother if he had any signs of EDS and he said no.  I disagree.

  • As a child he used to frequently ‘pop’ his knuckles.
  • He is flat footed.
  • He has a marfans body type (very tall with long arms).
  • He had childhood “allergies” which he outgrew but I wonder now if they were mast cell related.
  • He had “growing pains”.
  • He was an exceptionally talented footballer, but due to knee problems had to give up the sport in early adulthood.
  • He has a high mouth roof arch and dental overcrowding.
  • He told our Mom he isn’t in any way hypermobile: in fact he’s as stiff as a board at only 49 years old (not everyone with EDS is bendy and early osteoarthritis is common).
  • At some stage in his adult life he had a period of chronic fatigue so severe he had to go back to live with our Dad.  Thankfully he fully recovered.
  • He’s had crinkly, loose skin from child-hood (I’d love the opportunity to pull it to see how stretchy it is).
My brother as a young teenager - very loose facial skin (apologies for very poor picture quality!)

My brother as a young teenager – very loose facial skin (apologies for poor picture quality!)

As I’ve stated before in my blog, I wonder if we have cross-over types of EDS in my family.  It may be that my brother might have Classical EDS or even Marfans but I’ve inherited hypermobility from our Dad, which has given me H-EDS?

When I discovered I had EDS I emailed all my maternal cousins and asked if any of them, or their children, showed any signs.  None did, apart from one cousin who was at that time having a problem with a ‘clicking’ hip.  She went to see a Rheumatologist, who said she was hypermobile but didn’t have EDS as she had no other signs.  When I was her age (36) I didn’t have any other classic signs either, so I’m just waiting to see if she deteriorates in her forties as I did.  One of my cousins was a professional ballet dancer for some years but she said she has no problems at all despite being in her mid fifties, so is clearly hypermobile but shows no signs of EDS.  It does seem weird to me that in a family as large as ours no-one else seems to have any of the problems usually associated with EDS.  Having said all that, the only sibling my Mom resembles is her younger brother – she looks nothing like any of the others so maybe the gene has skipped a generation or has come from an Aunt or Uncle?

Mast Cell Disease

Looking back, I know I’ve had MCAD from birth.  My Mom also has many MCAD symptoms which suggests there’s some kind of genetic link involved.  She has:

  • Multiple drug allergies, including hormones, certain antibiotics, certain anti-depressants, morphine, general anaesthesia.
  • Flushing after alcohol or strong emotions.
  • Itching skin and scalp.  Allergy to sticking plasters.
  • Sneezes constantly but no obvious allergies (she’s been on daily antihistamines for over 20 years).
  • Dry eyes.
  • Chronic reflux (she’s been on a PPI for over 20 years).
  • Chronic intermittent diarrhea for which no explanation can be found.
  • Migraine.
  • Pressure hives and oedema (ie swelling).
  • Chronic low level depression.
  • Chronic nausea.
  • Gall bladder problems (she had hers removed over 20 years ago – it was so shrivelled and diseased they couldn’t even find it on the scan!  MCAD can affect organs like the gall bladder, pancreas and kidneys).
  • She’s always ill when travelling abroad, due to changes in climate, food and water.
  • Can’t bear strong sunshine.

Thankfully she’s never had issues with foods and her mast cell symptoms don’t seem to’ve escalated to anaphalactoid reactions like mine have, but I do remember that when she went through menopause she had huge problems with swelling, whealing and hives for several years.  She was on HRT for her osteoporosis following menopause and lived with huge itchy swollen welts all over her body for 2 years!  Her va-j-j also swelled so badly at times she couldn’t put her legs together (why on earth she put up with these symptoms and didn’t just come off the damned patches is anyone’s guess).

My Mom’s sister I also think had mast cell disease, though her symptoms took a very different form.  She had severe depression and anxiety her whole adult life, to the point where she even tried ECT (electric shock therapy) which of course didn’t help.  There was absolutely no reason for her depression and I think it was caused by MCAD.  Her daughter also has depression and anxiety, and regularly wakes in the middle of the night with her heart pounding and her adrenaline pumping (sound familiar?).  Her older sister has a severe migraine disorder which has proved absolutely resistant to drug treatment.  I’ve tried to persuade this sister to try a low histamine diet (her current diet is a histamine time bomb) but she’s actually a chef and “loves her food” too much to give it up.  She must love her migraines too then, because I’m convinced a low histamine diet would help no end!  Neither my Aunt or her daughters had any signs of Ehlers-Danlos, so I’m not sure why they’d have mast cell disease, but I’m convinced they do.

It’s easy to see now that my Mom and I share a disease history, but it’s only with the benefit of hindsight that it’s become so obvious.  There are also glimpses of hypermobility in my ballet dancing cousin and my other cousin’s sub-luxing hip, and possible mast cell issues in my Aunt and both her daughters.   I hope by sharing this post you can look for signs in your own family members, particularly children, as early intervention helps with prognosis.

 

 

Greater Trochanteric pain

Last Tuesday I had a physiotherapy appointment regarding my hip pain.  My physio doesn’t have a huge amount of experience with Ehlers-Danlos Syndrome (no-one in the entire north of England does) but she is a specialist senior Rheumatology physio and does have several other EDS patients.  I saw her on and off for a year in 2013 and, although we didn’t make huge progress as my ME makes any kind of exercise almost impossible, she was hugely sympathetic and understanding of my situation, listened to me and didn’t force me to do anything which would make my ME worse.  If only health professionals knew that this kind of attitude helps as much as actually treating the problem!

The pain started about 2 months ago with an ache deep in my right socket joint where my leg bone meets my hip and a distinct sub-luxing clicking sound if I moved my legs apart.  Eight weeks on it’s a constant deep pain in the joint, hot burning muscular pain down to my knee, stinging shooting nerve pain down to my knee (both of which keep me awake at night), pain in my SI joint, pain along the top of my pelvic bone and, just so’s my left hip joint doesn’t feel left out, it’s now started to hurt too.  Super!

My GP guessed, correctly, that it was Greater Trochanteric pain syndrome (formerly known as GT bursitis) and my physio agrees.  Which, in some ways is great, as it means there’s no actual problem with the hip joint, but GT pain is apparently a bitch to treat and can be very troublesome.  Tell me something I don’t know!

I can’t have many of the treatments which a ‘normal’ person would for this condition.  I can’t risk steroid injections, as I’ve reacted to oral steroids in the past due to my Mast Cell Disease.  Ditto with ultrasound treatment (weird, I know!) and acupuncture.  So it’s down to the basics:

  • Ice, 3 times a day (as I type this sitting up in my bed I’m having the equivalent of brain freeze in my butt!)
  • Ibuleve (ibuprofen) gel every 4 hours (I can tolerate topical pain relief, just not oral) to reduce the inflammation
  • Rest (for a whole month – somebody shoot me 😉 )
  • Crutches.   I’ve had to have gutter crutches which take your weight through your whole forearm, as regular crutches would totally bugger up my already weak and highlyhypermobile wrists and shoulders.

    Photo of gutter crutches

    Ignore my jumper – it’s long and usually down over the TENS machine clipped to my wasit and SI belts but I’ve hitched it up to show you the full ensemble!

  • Bracing – I’ve bought another second-hand SI belt off Ebay and am using that slung slightly lower down around my hips to stop the joint sub-luxing.
  • My trusty TENS machine, which won’t help the joint heal but does take the edge off the pain.

I have to go back in a month with my progress.  It’s been nearly a week now of not doing my usual activities and I have to say……………the pain is worse than ever 😦

The day after my physio appointment my Dad had his hernia operation.  He’s doing fantastically well and you would never know he’s had surgery, other than the fact he can’t walk far or drive for the next 2 weeks.

Due to all of the above I didn’t make the EDS conference in Birmingham.  I can barely sit, stand or lie due to my hip and pelvic pain so there’s no way I’d be able to sit for nearly 3 hours in a cramped train seat, then all day in hard conference chairs (n fact, the mere thought makes me wince), plus I didn’t feel I could leave my dog with my parents as neither of them are able to take him out (my Dad’s surgery wasn’t on the cards when I booked my conference tickets).  I’m gutted I didn’t get to meet any of the people I’d planned to but at least I won’t miss out on the lectures as EDS UK are putting them up in the member’s section of their website soon.  I’ll let you know if I discover anything new once I’ve seen them, particularly the talk from Dr Seneviratne on Mast Cell Disease in Ehlers-Danlos.

For anyone else experiencing hip pain, there are some really good slides from the Ehlers-Danlos National Foundation’s 2013 conference online here.

On a totally different topic, a group of doctors at Beth Israel Deaconess Medical Center would like to understand the bowel and stomach issues that might affect patients with inherited connective tissue disorders.  They have put together a survey which will take about 25 minutes to complete (it’s very easy) and I would encourage anyone with a confirmed diagnosis of Ehlers-Danlos Syndrome or Benign Joint Hypermobility Syndrome to take part:
https://hms.az1.qualtrics.com/SE/?SID=SV_1YwLC0XvGWi9gP3