Tag Archives: symptoms

The M Word

Last week, Newsnight presenter Kirsty Wark appeared in a documentary on the Menopause.  To be honest it didn’t tell me anything I didn’t already know but it was nice to hear about another woman’s experience because we just don’t talk about it in this country, not even amongst ourselves.  Yet it will happen to every single one of us.  I remember joining my Camera Club and was talking to a woman there in her early 60s.  I was rampantly hormonal that night and got confused so said jokingly “ignore me, I’ve got Menopause brain” and her eyes nearly popped out of her head that I would mention the ‘M’ word in polite conversation.

Historically, women’s hormones have been a taboo subject because we’ve lived in a male dominated world, even though men are currently in a 48% minority here in the UK.  Yes we had a female Prime Minister in the form of Margaret Thatcher but she only rose to power because she acted like a man, which kind’ve defeated the entire purpose of having a woman in charge.  Girls have always been seen as emotional, hysterical creatures simply because we behave differently to men and anyone who shows emotions is still seen as weak and not to be relied upon – then we wonder why mental health issues affect 1 in 3 people :-/

Women are just supposed to get on with their periods.  The adverts on tv tell us if we only use x brand of tampon we’ll be running marathons or climbing mountains, and if we pop a Feminax Ultra we won’t know what pain is.  Thankfully for some women this is the case but for others periods are a form of 4 weekly torture and going about our day business as usual is jut not possible.  This of course intensifies during Menopause yet we’re supposed to act like nothing is happening.  We are, thankfully, now sympathetic to puberty-induced erratic behaviour, door slamming and crying fits, and pregnant women are allowed days off work if they’re unwell, but the Menopause is still ignored and I can’t for the life of me understand why.  It’s the largest bodily change in any woman’s life and can cause absolute havoc.

We aren’t even honest about Menopause amongst ourselves.  When my periods first started to change and I suspected peri-menopause I went to see my (female) GP who said “well it’s a bit early but it only lasts 2 years then it will all be over with” which even I knew was a big fat lie!  Six years on and there is still no sign that my periods are about to stop for good.  The biggest shock of the documentary for me was to hear that at age 61, and ten years after The Change, Kirsty still has Menopause symptoms in particular the fact that she still doesn’t sleep well.  The myth that our periods stop and that’s the end of that may be true for some women, but certainly not for all.  In a phone-in for the documentary a 72 year old woman rang up to say she was still having hot flushes every single day of her life twenty years after her final period and I remember my paternal Grandmother started to sweat profusely following Menopause and didn’t stop ’til the day she died.  My own Mum’s vagina atrophied so much in her mid seventies that she was prescribed oestrogen pessaries and her (female) Gynaecologist joked “women were supposed to die shortly after Menopause, so to be honest we’ve no idea how to treat hormone-induced symptoms in old people!” which tells you everything you need to know about the lack of information given to medical students in respect to older women and the female-related issues they face.

I don’t particularly want to celebrate my Menopause but I have no intention of ignoring it either.  I will bring it up in conversation if I feel the need and people can be as shocked as they like.  I won’t beat myself up, or apologise for, feeling irrational or emotional and will pamper myself when I’m feeling physically crap.  I won’t be hard on myself when I’m fatter at 55 than I was at 45, or joke about needing an afternoon nap.   All this is normal and it’s about time society recognized this huge transition in women’s lives and made allowances.


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? 😦

ME: the facts

Following on from yesterday’s post, I am a little calmer this morning and thought I’d share a few facts with my readers to balance EDS UK’s appalling article.

1. ME is not a psychological disease.  It is classed by the World Health Organisation as a neurological disorder (Reference 93.3). The UK Department of Health accepts this classification and recognises ME as a neurological condition of unknown origin.

2. It has strict diagnostic criteria.  Admittedly they need to be revised as they are too broad and capture a proportion of people who don’t have ME, as well as those that do, and this problem with diagnosis is something I know the UK ME charities work tirelessly on with the Government.  The Holy Grail of a diagnostic test would end this confusion.

3. If your symptoms eventually turn out to be due to another disease and not ME, it means you have a rubbish doctor who hasn’t done his job properly, not that ME doesn’t exist.

4. You can have other conditions alongside ME.  Just because you have one disease doesn’t mean you can’t develop another, eg Ehlers-Danlos and POTS.

According to Cathy Collier, I don’t have ME and need to look harder for what’s actually causing my symptoms, so I thought I’d take a look back at the all the diseases I’ve had ruled out and see what’s left.  I don’t have:

  • Multiple Sclerosis or other nerve or neurological disorders
  • Peripheral neuropathy or other neuropathies
  • Cancer
  • Thyroid disease
  • Hormone imbalance/disease
  • Blood disorders
  • B12 deficiency
  • Iron deficiency
  • Vitamin D deficiency
  • Coeliac disease
  • Gallbladder disease
  • Liver disease
  • Ovarian disease/PCOD
  • H Pylori infection
  • Stomach ulcers
  • POTS
  • Periodic limb movement disorder
  • Sleep apnea
  • Gastroparesis
  • Osteoporosis
  • Lyme Disease
  • Chlamydia Pneumonae
  • Mycoplasma infection
  • Allergies
  • Epilepsy
  • Autoimmune disorders
  • Arthritis or other inflammatory diseases
  • Mental health disease

So, other causes for my symptoms have been ruled out which is one of the diagnostic criteria for ME.  In addition my illness:

  • Followed an acute infectious event (in my case a tummy bug).
  • Became chronic.
  • Reduced my pre-illness activity to under 50%.
  • Includes the hallmark symptoms of ME, such as post-exertional malaise, delayed fatigue following activity, fatigue unrelieved by rest, sore throat and tender lymph glands indicative of ongoing immune activation (amongst a dozen others).
  • Being treated for my other diseases, eg EDS and MCAD, had no effect on my ME symptoms whatsoever.

Just like the hypermobile form of Ehlers-Danlos, ME is a diagnosis of exclusion, a history indicative of the disease and hallmark symptoms, such as post-exertional malaise and delayed fatigue unrelieved by rest which are almost exclusive to this illness.  ME does exist as an illness in its own right and it’s possible to accurately diagnose it, although to rule out all the other causes for your symptoms can be a long and frustrating process.  However, it took 42 years for my EDS to be diagnosed so long and arduous journeys are not unusual in the chronic and misunderstood disease world.

There has been a two decade long battle to get ME recognised and there is now a huge amount of research pointing towards problems with muscles, nerves and the immune system which refutes absolutely any suggestion that ME is a psychological disorder.  In addition there are many other diseases for which no single, diagnostic test is available (hypermobile EDS for one) yet no-one suggests for one minute they are imaginary or don’t exist.  I can’t believe, in 2015, I’m still having to defend the condition against this sort of ill-informed prejudice.  When is it going to stop?

Bits n Bobs

There’s nothing like starting off a Blog post with an informative, clever and witty title……..or not as the case may be ;-).

I’ve added a new page to the site on My Symptoms so that you can compare yours to mine (you wouldn’t think it was physically possible to have this much wrong with you yet still look like a totally normal functioning human being, some of time at least).  I actually found this page quite hard to write.  I’ve been ill now since 1994 and have had so many symptoms over the past 20 years it’s hard to remember them all, especially as some of them have, for the most part, gone and only come back when I have a relapse (which, thank God, is rare these days).  It’s also been so long since I was healthy I just accept my broken body, and forget that the myriad of symptoms I cope with every day of my life really isn’t normal.  So I’ve no doubt forgotten some issues that are quite important and will keep going back to the page and adding as I remember (I sooooo miss having a properly functioning brain)!

I also forgot to add my ‘dirty elbows’ to my Skin post so have updated that.  Does anyone else have ‘dirty elbows’?  I have no clue what this pigmentation is all about, or why it’s just on my elbows and no-where else!  The skin isn’t dry or hard or rough, just brown for absolutely no reason.  I’m sure it’s nothing at all to worry about (not that I do, worry I mean) but it does look like I can’t be bothered to bathe (which, if I’m honest, I can’t most of the time – it’s exhausting – but that’s not a fact I’d like my elbows to advertise to the entire globe!).

And speaking of skin, I have large chunks of it missing now that summer has (finally!) arrived here in the UK.  I made the fatal mistake of wearing flipflops (which resulted in the skin between my toes being rubbed clean away) and a pair of trainers without socks (which resulted in blisters the size of coins on both my little toes).  Having ‘delicate skin’ sounds feminine and romantic but in practice is a bloody nuisance.  Plus, you can’t wear orthotic insoles with summer shoes, so of course I went over on my ankle several times which is now swollen and a lovely shade of greeny purple.   Someone on the EDS forum posted a link about sandals which contain custom built-in orthotics.  They look just the job, so I’m making an appointment with my Podiatrist to see if I can get a copy of my prescription to have some summer shoes made.  Honestly, this being ill malarkey is soooo expensive and all at a time when you’re skint-a-roony because you’re unable to work as you’re ill :-/

The excitement for the week was receiving my DNA testing kit from America.  The hypermobile type of Ehlers-Danlos Syndrome is the only type for which a gene hasn’t been identified, so a group of patients on the Inspire EDS forum have decided to have their genes tested at their own expense and to pool the results to see if they can come up with any patterns.  I decided to take part (costs about £116 including shipping) as the test provides a mind-blowing array of information including your ancestry (ie African, European, Asian), how Neanderthal you are (probably 90%, the other 10% being ape 😉 ), how well you metabolize drugs (this will be very interesting considering I can’t take drugs of any description), which diseases you genetically carry (I’m looking specifically for Dupuytrens Contracture, Osteoporosis and Essential Tremor as my Mum has all three) and which diseases you are at risk of contracting.  I now have to wait about 2 months for the results (the suspense will kill me because I’m really not the most patient patient in the world!).