Category Archives: Medical & treatments

The voice of authority

I’m going to bang on, again, about not believing everything you read online.  I know I’ve talked about it before, several times, but it’s worth repeating because when we’re sick we get desperate and when we’re desperate our logic and reasoning can go out of the window.

Some people write with such conviction and authority that they make you question your own mind.  Even cynical old me sometimes reads a comment or a blog post and thinks “hmmm, maybe I should give up gluten after all” even though I know fine well I don’t have a problem with it.  It’s particularly easy to get sucked in if the article ends with research references, after all the author has obviously based their information on evidence.  Or have they?

I try to be savvy about what I read online and I question everything.  In particular I:

  • Learn about the author.   If they are talking about health issues I need to find out if they are a qualified health professional.  If they are talking about science such as genetics or the basis of disease I find out if they are a qualified scientist or researcher.  If they are offering dietary information I find out if they are a qualified nutritionist.
  • Discover their bias.  I have EDS, MCAD, M.E. and Endometriosis, so when I read about people with similar sounding symptoms to me I automatically think they have what I have.  But here’s the thing: I don’t know them from Adam.  I don’t have access to their medical records.  I don’t know what tests they’ve already had done and which diseases they’ve had ruled out.  I am hugely biased because of my own experience, but my experience may not be someone else’s experience.
  • If they include research references read them.  Their reference may be to one unpublished paper written 50 years ago, in which case it is irrelevant.  Fact is only fact when it is unbiased, been conducted in a controlled environment (ie all participants of the research have the same disease, have been measured against either healthy controls or controls with another disease, and the same testing method has been applied to everyone), has been replicated by another doctor or lab, the outcome has been properly scrutinized by other experts in the field (usually through publication in a medical journal) and, most importantly, the research has been conducted on people not rodents.  If this hasn’t happened it is theory, not fact. I believe with total conviction that I am the best blogger in the whole wide world, but my belief doesn’t make it true 😉
  • If you read an article that you feel resonates with you, google the opposing view.  If you read something on inflammatory foods which you find interesting, try googling “debunking anti-inflammatory diets” and read some of the opposing opinions and more importantly facts (I don’t need to add from reliable, medical sources such as the National Institutes of Health or PubMed).

There are several areas which currently really bother me when it comes to pseudo-science and wild claims, including:

  • Genetics.  People without any scientific or medical background write a lot about genes online and they sound really convincing.  But Dr Afrin in the chapter on genetics in his book on MCAD sums up well our current position when it comes to the world of genetics and it’s this.  “The truth is, we really don’t yet know what 99.99% of this stuff truly means………..Diseases are complex systems, each with many, many interlocking/interacting phenomena and to think one can understand the entire system by knowing merely a few tiny parts of it is the height of naiveté.”  So bear that in mind the next time you read stuff online about c-KIT and Methylation from some convincing author without a single medical or scientific qualification or access to a laboratory let alone human DNA.
  • Food, in particular gluten, dairy, sugar, “plant-based diets” (so long as the plant isn’t wheat, rye or barley) and “anti-inflammatory” foods.  My regular readers will know all the pseudo-scientific crap proliferated online about food and its role in health and disease drives me to absolute distraction.  Please be more savvy about what you read and believe online and balance this with the opposing view before making any decisions about what you eat.  Jeff Schweitzer, Scientist and former White House Senior Policy Analyst with a Ph.D. in neurophysiology, makes some valid points about inflammation in this blog post for example.  I categorically state that my pages about low histamine food on my blog are based on my own experience and not fact.  I actually takes pains to point out there are NO reliable low histamine food lists online or anywhere else and very little research has been conducted on the histamine content of foods.  If a website contains a low histamine food list you need to be asking where the list has come from, the testing which was carried out to determine the level of histamine, by which methods, if it was replicated by another lab and if the data is publically available to view.  Good luck with finding a single website containing this information because I guarantee you it doesn’t exist.

The reason we lose our reason and have a tendency to believe the unbelievable, is that we’re desperate.  Sick, exhausted, baffled, frustrated, angry, lost and/or frightened.  We want someone, anyone, to tell us what’s wrong with us and how to put it right but sadly life isn’t that simple.  Patients online, persuasive and passionate as they may be, don’t know more than the leading doctors and researchers in the world on their chosen subject, however much they delude themselves that they do.  And currently, researchers in the fields of EDS, M.E. and MCAD freely admit they don’t have the answers.  They’ve recently found some interesting things, which may or may not be part of the puzzle of our diseases, and there are exciting developments in the pipeline but no-one has reached any definitive conclusions as yet, hard as that is to hear.

The one thing I know for sure is that the answers to my health issues aren’t going to come from Bob Smith in Nebraska who has no medical or scientific qualifications yet proclaims from his sick bed that he knows something the leading physicians in the world do not and that the answer to all our ills lies in methylation/a paleo diet/an anti-inflammatory diet/ingesting worms/the vagus nerve/[insert your next wildly unproven theory here].  In fact, that Bob Smith even thinks he knows more than the leading brains in the international scientific world is bonkers yet we, the reader, often believe the Bobs of this world – the stranger on the Internet we know absolutely nothing about – without even questioning or challenging them.  But we need to.

 

 

 

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Comparisons

Blimey, I seem to have a lot to say this week!  I blame my hormones, I’m feeling quite arsey 😉

I read an article on The Mighty about comparing all illnesses to cancer which really resonated with me.  Chronic illnesses are trivialized in general and M.E. is near the bottom of the chronic illness food chain.  It’s not seen as a ‘real’ disease to start with and certainly not one which deserves a huge amount of empathy or understanding.

I’ve lost count of the number of times my tests have come back normal and some well meaning medic has said to me “good news, there’s nothing sinister”.  In other words, there’s no cancer.  Which, don’t get me wrong, is wonderful but I’m still left being unable to eat, or passing out, or in agonizing pain with no explanation and consequently no treatment.  For 20 years.

One of the most hurtful things my Mum has ever said to me is about her sister, who sadly died of ovarian cancer.   “Your poor Auntie, I’ve never seen anyone suffer the way she did for those two years.”  Er, what about your daughter who spent ten years in bed having seizures, unable to eat anything solid for a whole year, unable to speak for a whole year, whose hair fell out and has not grown back, who was terrified, isolated, in dreadful pain, unable to sleep, whose feet turned in so she was unable to walk, whose hands turned in so she couldn’t even pick up a cup………..the list could go on and on.  And who now faces a future of chronic pain, increasing disability and the daily threat of anaphylactic shock.   My Aunt had a loving husband, three loving children and partners, a Macmillan Nurse, a fabulous GP, attended a support group for cancer patients every week and was hospitalized when needed.  Not left in a bed alone for a decade without care of any kind.  She was 76 years old, with a full life behind her, family, memories…….not 26 with her whole life ahead of her.  She did pass away but she’d lived first.

My cousin’s husband is sixty and two years ago was diagnosed with chronic leukaemia, a disease you can live with for many years and which often doesn’t even need treatment.  He is receiving excellent care, has three monthly checkups and every time anyone meets his wife they ask after him and offer help and support.  No-one even asks after me any more.  My Mum regularly sees my cousin and knows all about her husband’s treatment, yet when we speak she’s totally lost interest in how I’m feeling.  Well, it has been 23 years so I’d imagine it gets a bit boring listening to me reel off which part of my body is hurting today.

I’m not comparing the two diseases, simply pointing out the different way cancer is treated by both medical staff and the public compared to a chronic illness.  It’s like we should be glad our disease hasn’t killed us (even though both my M.E. and MCAD have had a bloody good go) and of course I am, but that doesn’t negate the lifetime of suffering I’ve gone through.  I’ve had back pain for 40 years now and when you’re allergic to painkillers and can take nothing to give yourself a break trust me when I say it really gets you down, especially on top of the thirty odd other symptoms I also have.

From the get go I’ve been told I should be “glad it’s not cancer” but I’m not sure why I should be glad to have illnesses that have made me spend half my adult life in bed too exhausted to feed myself, have robbed me of a husband and children, holidays, fun, employment, money, sleep, food, the ability to walk or even sit up some days, pain so severe I want to take a knife to my body parts, nausea, retching so severe I’ve damaged my oesophagus, my ability to read, speak or write like I once did and all the things which really make us who we are and our lives meaningful.  Since when did that become trivial or irrelevant?

There are excellent provisions for people with cancer.  Specialist hospitals, nurses, and clinics and if you have cancer you can get to see a GP the same day – they might even come to see you.  Yet there is nothing for M.E., EDS or MCAD in the whole of the north of England.  Not a specialist Consultant, not a specialist Clinic, not specialist Nurses or specialist Physios and if I want to see my GP it takes me 6-8 weeks.  I receive no care whatsoever.  And it’s not right.  It’s not right to make one disease more important than any other.  It’s not right to say that one person’s suffering is worse than another person’s suffering.  It’s not right to treat one person’s pain and ignore another person’s pain.  It’s not right to recognize the emotional impact one disease has on a person and ignore the emotional impact another disease has on a person.

You can’t compare diseases.  Is Cancer worse than Parkinson’s?  Is Parkinson’s worse than ALS?  Is ALS worse than Schizophrenia?  Is Schizophrenia worse than Cystic Fibrosis?  Where is the line?  How is one disease compassion and treatment worthy and another not?  Is the possibility of death the only reason to treat disease?  What happened to easing pain and distress or do we not have the money for that?  What price suffering?

It’s all it the genes…

…or is it?

It’s an exciting time to be alive and our genetic information is going to change health-care forever.  I had my DNA tested via 23andme years ago before it was hugely popular, which was a simple process of spitting into a tube and sticking it in the post back to the States.  I did it for ancestry purposes because we suspect some of my maternal forebears were Vikings who came over to Britain in the 700s AD to rape and pillage, and I didn’t really twig at the time that it would profile my health data.  As it turned out, I am 100% European and do have Scandinavian DNA, though am now 71% British/Irish.  The Irish doesn’t surprise me as we have lovely red hair in our family although my personal chance of being a red hair gene carrier is only 5%.

My DNA told me that I likely had wavy hair (true) and blue eyes (also true).  That I would be crap at running (true) and not lactose intolerant (also true).   More importantly I didn’t carry the BRCA breast cancer gene and was significantly less likely to develop Alzheimer’s Disease than the general population (no idea how they know this as we don’t know what causes Alzheimer’s and if we don’t know what causes a disease we also don’t know who will, or will not, develop it).

But then it got confusing.  I am literally the spit out of my Mum’s mouth and both she, and my maternal Grandmother, had Dupytren’s Contracture yet according to my data I am at low risk of developing the disease myself.  This could turn out to be true and I could be lucky, but being as though I have every other genetic trait my Mum possesses I somehow doubt it.  My genes showed I do not flush after alcohol (another incorrect assumption), that I am not at risk of developing Restless Leg Syndrome when in fact I’ve had horrendous restless legs since childhood (both my parents have the disease), I’m no more likely to have Endometriosis than anyone else (I’ve had Endo since I was a teenager) and that there’s a high chance I was lower than average in birth weight when I was actually quite porky for a small framed baby at over 8lbs!

And there’s the rub.  Just because our genes carry certain genetic codes doesn’t mean we will, or won’t, develop certain diseases.  I don’t show highly for being either long or short sighted, yet I am both and started wearing glasses in my early 30s.  It has nothing whatsoever to do with my actual eyesight, however.  I have astigmatism, in other words the shape of my eyeballs is changing over time from being round like a football to being oval like a rugby ball and this is causing my eyesight to decline.  My Optician strongly suspects this is connected to my Ehlers-Danlos and I probably agree with her.  I may not genetically be pre-disposed to flush after alcohol, but the fact I have Mast Cell Disease and Histamine Intolerance means that I am highly sensitive to the biogenic amines in alcoholic drinks and it’s this which causes me to resemble a Lobster when I am drunk.

Genes are hugely complex and can be affected by both internal and external factors.  The fact I have EDS, Endometriosis, MCAD and M.E. predisposes me to complications such as osteoporosis, retinal detachment, heart disease, female cancers and a host of other things, though if I didn’t have my pre-existing conditions I’d genetically not be pre-disposed to any of them.

We are all completely and utterly unique and lumping our DNA traits with other people’s and then extracting average data isn’t hugely helpful.  My Mum obviously carries the EDS gene yet her symptoms are very minor compared to mine, so even if we are genetically predisposed to have a disease there is no way of knowing how severely, or not, it will manifest.

For the reasons mentioned above, I’ve never dabbled with genetics.  It’s a massively complex area and we’re only in the very early stages of understanding how our DNA impacts our health or why someone without a gene mutation can develop a disease, while someone with the gene mutation doesn’t.  How pre-existing conditions affect the expression of our genes or how genes can be turned on and off.  So if you do go ahead and have your DNA tested don’t be lulled into a false sense of security, or conversely too alarmed, by the results.  I just treat it as a bit of fun, though hopefully because I’ve opted into research on the 23andme site my genes might help our understanding of susceptibility to disease, if not our certainty.

Endoscopy no.2

Before I start this post I must make mention of the terror attack in Manchester last night.  I literally welled up when I turned the telly on this morning at the thought of the grieving families who have lost their precious children, and the survivors who will have to live with horrendous blast injuries for the rest of their lives not to mention the psychological trauma.  I have no idea what the terrorists hope to achieve.  It’s not like the entire United Kingdom is suddenly going to go “OK, we’ll all become radical Muslims” now is it?  And let’s not forget that Manchester is a multi-cultural city with a large Muslim population and the concert was filled with brown children as well as white.  There is no faith which supports taking a life and even if there were it wouldn’t advocate taking the lives of others with the same faith.   The world’s literally gone mad.


So, yesterday was torture endoscopy day.   I wasn’t allowed anything to eat past 8am and eventually went 11 hours without food.  I was only allowed water until 12 noon, so went without a drink for 5 hours.  This is not good for someone who drinks like a fish just to stay upright and eats every 3 hours or she feels like she’s going to pass out, and driving 60 miles in that state probably wasn’t all that safe!

I went on my own to the Hospital as these days I have no-one to go with me.  It’s fine and I’m used to it.  My Dad did offer, but it’s more stressful trying to keep my eye on his wanderings and keep him entertained than it is to go alone, plus I don’t trust his driving despite the fact he recently re-passed his test.

Three days before, I’d had a phone call from a nurse who went over all my health questions with me on the phone.  Despite this, on arrival at the endoscopy suite I was taken into a room and asked all the same questions – why, exactly, and what a bloody waste of NHS money.  Having arrived at the hospital I had been told by the nurse on the phone to report to Reception, but they didn’t even take my name and just told me to go and sit in the Endoscopy centre – the system is a shambles.  I then sat in the waiting room for the next 1½ hours for reasons I couldn’t work out.

I was told I was having the procedure done by Debbie, the endoscopy nurse, but was eventually called in by a youngish man, who told me he was the endoscopy doctor – why they’d swapped me I have no clue.  He was vile.  Truly.  He took me to the tiniest room on the planet, then said
“so, you have Ehlers-Danlos!  Can you do party tricks?”
I was taken aback and stuttered “erm, well I used to be able to but am too old now”.
“You’re not old!” he exclaims.
Me, starting to get irritated “as you age you stiffen up, and anyway doing party tricks damages your joints so isn’t recommended.”
Him: “Have you had children?”
What the fuck has that go to do with anything? “No.”
Him: “Oh, cos I was wondering if they just popped out like shelling peas” he grinned.
Fuck off you dumb ass.  You’re making light of a disease which causes me untold daily pain and has wrecked my life.
Him: “Can I ask you a question?  What’s your life been like?”
I’m totally flummoxed by this and reply “in what way?”
Him: “Well, how has it affected you?”
I know from his attitude he doesn’t give a fuck how my life has been affected and I have no idea why he’s asking.  I just want to have my endoscopy because I’m terrified I’m going to have anaphylaxis and die.  So I reply “I developed M.E. after having meningitis, was bedridden for a decade and nearly died, so although having EDS is shit at least I can function which in my world is brilliant.”
Him: “What do you mean M.E.?”
Me: “I also have M.E.”
Him: “What does M.E. stand for?”
Me: “Myalgic encephalomyelitis”
Him: “Just checking you knew.”
Me in my head: “fuck off you weird twat.  As if I wouldn’t know the name of the disease which nearly killed me and has decimated my life for over 2 decades.
Him:  “You also have mast cell activation disorder.”
Me:  “I do.”
Him: “Is that confirmed or just probable?”
Me: “It’s mostly only ever ‘probable’ in the UK because we don’t have access to the tests we have in the States to confirm diagnosis.”
Him, laughing: “we have in the States?”
Me: getting pissed now.  “We don’t have access to the tests they have in the States.”  I’m anxious, exhausted, ill, dehydrated and haven’t eaten for hours.
Him: “Rights, let’s go.”  Then, as we’re heading up the corridor to have the procedure “you do know this can cause perforation and infection don’t you?”
Me: “Thanks for that, it’s not like I wasn’t already nervous”
Him: “Well I have to tell you these things”
Me: “Not 30 seconds before you do it you don’t.”

In contrast, the two nurses were absolutely lovely.  Before we got started, though, I asked the doctor if he could do some biopsies to be tested for mast cells as I think they might be causing my issues.  To cut a long, shitty conversation short, in which I’m made to feel like a hypocrondriac who has made her disease up, he says no.  In fact, the entire procedure took less than 3 minutes – he went in, had a look around, and came out again.  No biopsies of any description, not even of my pre-existing 11 polyps which haven’t been checked for cancer for 5 years.  What a waste of time.

For anyone who hasn’t had an endoscopy before I have to say this: it’s one of the worst things I’ve ever had done, and I’ve had a shit load of stuff done over the years.  I’m allergic to sedation, so can’t have it.  Instead they spray your throat with local anaesthetic, which makes it burn and then makes your entire oesophagus numb and feel swollen like when you have lidocaine at the dentist.  Swallowing is really weird and you feel like your throat is paralysed.  They lay you down on your left side and put a bite guard-type thing in your mouth with a hole in for the endoscope, which is a flexible plastic pipe with a light on the end.  It feels about a foot wide but is probably only about half a centimetre.  The lovely nurse rubbed my back and held my hand as the camera was inserted, but trust me when I say they have to be brutal to get it past your voice box area and you gag like your life depends on it, literally feeling like you’re choking, and your instinct is to try and pull it back out and to stop you doing that is the real reason why the nurse holds your hand 😉  It does feel like you can’t breathe with the tube in your oesophagus but of course you can – you really have to focus though, battling against panic, and breathe deeply in and out through your nose.  There’s another brutal shove, with gagging, choking and coughing as they get it through your diaphragm and into your stomach where you can feel it moving around.  It’s not painful but very very weird and uncomfortable.  Another brutal push and more gagging as it goes into your duodenum, where again you can feel it moving around.  And the whole time you feel like you can’t breathe and are choking to death.  Lovely.

My first endoscopy took about 20 minutes as they took pictures and loads of biopsy samples, but as I said earlier this time he was in and out within minutes.  Lots more gagging, coughing and choking as the scope comes out and it’s all over.  Thank God.

Apparently all is fine.  I have a tiny hiatus hernia not even worth mentioning and no inflammation.  How I can’t have inflammation is beyond me, being as though I have acid burning my oesophagus every day of my life and have had for several years now, but according to Speedy Gonzales everything was “plum normal”.  I fucking hated him.

Knowing my throat swelled last time I was fully expecting to be kept an eye on for at least half an hour, maybe longer, afterwards but no such luck.  I got up off the bed and was out the endoscopy suite literally 30 seconds after he took the scope out.  I did ask “what happens if my throat swells like last time?” as I was being escorted out the door and he just said “see a doctor”.  Thanks for that when my local cottage hospital doesn’t even have doctors on staff out of hours.

Luckily there was no significant swelling this time – it was such a relief.  I did spend the night feeling like I had the worst case of tonsillitis ever, swallowing past razor blades, and my throat is still really sore this morning but I managed to eat some soft food (mashed potato and carrots with salmon) for tea.

The Doctor did say that being as though all appeared ‘normal’ he wants me to go back for an ultrasound on my gallbladder so I’m now waiting for an appointment about that.  I then have to see the Gastroenterologist, who usually sees patients before all this stuff is done but wanted me to have the tests first so he had the results, which I can understand but if I’d seen him first he could have ordered the mast cell biopsies *sigh*.

I’m fairly sure I know what my pain is all about, but as usual Doctors don’t listen to me and aren’t willing to do the necessary investigations.  If it’s not something typical, like a hernia or an ulcer, they’re flummoxed and not interested in investigating further.  If the Gastroenterologist fobs me off I’m going to ask if it’s possible to be referred to an EDS specialist, ie Qasim Aziz down in London – I’ll probably be told no but it’s worth a try.

I’m tired, bruised and disillusioned this morning but at least it’s over with and I survived unscathed 🙂  My advice for anyone else having an endoscopy would be this: if you can, have the sedation.  You apparently can still feel the procedure but it’s not half as traumatic as having it done fully conscious!

Research trends

I’ve mentioned recently my frustration at the current research trend in the M.E. world to focus on energy production when, as a sufferer, I know that the ‘fatigue’ (for want of a better term) I experience is merely a symptom of immune activation not the root cause of my disease. Researchers have been studying energy production, in particular the mitochondria, as a cause for M.E. for over 20 years now and still haven’t found anything, which leads me to conclude there is nothing to find.  I’m not suggesting that mitochondrial dysfunction isn’t part of the disease picture but it’s definitely not the cause.  I wish these people would talk to patients more, especially we old timers who’ve lived with the illness for decades!

I’m equally unconvinced by the current trend to put every ailment known to man down to gut issues (SIBO, flora, bacteria etc) – it just feels like the current ‘hot new thing’ in a very long line of ‘hot new things’ on which to pin disease.  My Dad excitedly kept an article out of his newspaper for me this week which touted “answer to chronic fatigue syndrome found in the gut” and, much as I love him, I just sighed.  Here’s the thing: most cases of M.E. start with some kind of viral or toxic event (OP poisoning, vaccinations) but the event is different in all of us – mine was a tummy bug, yours might have been glandular fever, someone else’s a Hep B vaccine.   If we’d all started with a tummy bug then I’d be much more open to the disturbed gut theory, but we didn’t.  The one thing we share is immune activation, so for me the answer has to lie in the immune system and in particular its response to viral or toxic trauma.  As I’ve said before, if researchers studied why people with the flu are so weak and exhausted they can barely get out of bed they’d go a long way to finding out the cause of M.E.  In fact, it gobsmacks me that no-one has looked at that before now!

No offence to my American friends, but there is a mould trend going on in the States with everyone convinced that mould is the root cause of their issues and it makes me want to chuckle.  Northern England is wet for 10 (sometimes 12) months of the year, humid in summer, we mostly live in houses which are at least 100 years old and inherently damp, so I’m sure mould is everywhere.  We couldn’t escape it if we tried.  Yet not every Brit you meet is sick and we don’t have a larger M.E. population than any other country as far as I’m aware.  Obviously rampant mould growth, where you have black stuff growing on your ceiling, is hazardous to health and must be dealt with but other than that we in the UK don’t give mould a second’s thought – it’s been around a lot longer than we have and as a species we’ve managed to survive.

I’m just as cynical about the current inflammatory trend.  Inflammation, it seems, is everywhere and is causing total havoc.  Only of course it’s almost impossible to measure inflammation or to say, if inflammation is present, why it’s there and whether it’s a good thing or a bad thing.  When we cut ourselves the wound is immediately inflamed which is a painful, but absolutely necessary, part of our body’s response and vital for healing.  And before anyone comments, yes I know there’s a difference between acute and chronic inflammation but who’s to say chronic inflammation isn’t just as protective as acute?  It’s got to be there for a reason and we’d do better to find out why our bodies are enlisting our inflammatory response, rather than blaming the inflammation itself.

Going off-topic slightly, the trend of foods purportedly giving you every disease from cancer to Alzheimer’s drives me insane.  We have no idea what causes Cancer and even less idea what causes dementia, so for anyone to say “burnt sausages give you cancer” or “broccoli reduces your risk of Alzheimer’s” is absolutely absurd and makes me furious.  In fact, I’d go as far as to say researchers who tout this nonsense should be prosecuted.  The same goes for anti-inflammatory foods.  If we have no accurate way of measuring inflammation, how do we know what foods affect it?!

There have been articles in the newspaper this year saying “exercise staves off dementia” and “lack of sleep increases risk of dementia” and I think “what a crock of shit!”  My Dad, who is 78, still walks 8 miles a week up a mountain and, as a former marathon runner, has exercised vigorously his entire life.   He’s never had insomnia and sleeps 9-10 hours a night without a problem, yet has dementia.  My Mum, on the other hand, hasn’t exercised since she was a child and wakes at least twice a night every night, yet she is totally mentally on the ball (when she’s not drunk!).  All these articles do is play on people’s emotions.  We don’t have a clue what causes Cancer or Alzheimer’s and that lack of control scares us, so we focus on what we eat or how much we exercise because those are two things we can control and it makes us feel better.

I’m no psychologist, but much of the information currently touted as being bad for our health, or good for our health, is environmental – sleep, exercise, food and living conditions.  In other words, all things we can control.  We’re extremely fearful of the fact that Alzheimer’s or Cancer might be viral, bacterial, or genetic, or even worse some novel new thing we as yet know nothing about, and therefore outside of our control.  We’re fairly arrogant us humans and think that we have power over our bodies, when in fact life is mostly just random and shit simply happens.  If keeping mentally alert staves off Alzheimer’s how come author Terry Prachett developed it in his 50s?  If the phytoestrogens found in soya stave off breast cancer how come soy munching vegetarian Linda McCartney died from the disease?  How come my Mum, a lifelong smoker, couch potato and current alcoholic, is nearly 80 and has never had cancer and her non-smoking, tea-total, bike riding sister died from it?  None of it makes sense and that’s the very thing that scares us the most.

Normal test results

I’m the healthiest sick person you’ll ever meet.  Despite having Spinal Stenosis, MCAD and EDS from birth, M.E., Histamine Intolerance, Endometriosis and Adenomyosis 98% of all my test results have come back “normal”, at least according to my Doctors.  It will not surprise you that my response to that is “knickers!”.

When I was 11 I was climbing in some outbuildings and fell from the first floor onto the bonnet of a car, after which I developed back pain.  For the next 5 years I went backwards and forwards to the hospital who could find no reason for my symptoms.  X-ray results were “normal” and eventually I was told I was “attention seeking” and needed to see a shrink.  I refused and demanded a second opinion from an Orthopaed at a decent hospital 90 miles away (I was bolshy even at 16 😉 ).  Within 48 hours of being admitted they discovered I had been born with rare congenital spinal stenosis and urgently needed a laminectomy.  The fall wasn’t the cause of my back issue but had just aggravated a pre-existing condition.

This was my first experience that Doctors aren’t Gods and sometimes get it wrong and over the coming years I was to discover that they get it wrong more often than any of us would like.

It’s only in the past 5 years or so that NHS patients in the UK have been given access to their test results.  Historically, GPs would take loads of blood, not even tell you what you were being tested for and the results were sent back to the GP who only ever rang you if something abnormal was discovered.  But a GP’s idea of “normal” results and my idea of “normal” results seem to differ.

As I’ve discussed recently here on my blog, at the tail end of last year I started having symptoms of anaemia so asked my GP to check my iron levels.  They came back 1 point above the very bottom rung of “normal” (normal range 17-160 according to my lab sheet, and my result was 18), so my GP considered that fine.  Only of course it wasn’t fine because I was having symptoms.  I took it upon myself to start some supplements and within a week the pallor, exhaustion and daily dizziness I’d had for months vanished.  But if hadn’t gone to the surgery to request a print-out of my results and seen that my levels were low my GP would have just said everything was “normal”, I wouldn’t have tried the supplements and would have continued to feel like death warmed up.

When I saw Dr Seneviratne for my histamine/creatinine test it was high but within the “normal” range (normal is 34-177 and mine was 140).  However I’d been on a low histamine diet for 4 months at that stage, which one would hope would lower my histamine load and therefore skew the result, plus was symptomatic (at the time of testing my bum was covered in hives).  So thankfully Dr S still diagnosed me with “probable” MCAD because my history fairly conclusively suggested it.  But not all Doctors think like that – they see “normal” test results and rely on those, even when all the evidence is pointing towards there being a problem.

I’ve had severe gynae pain since the day I started my periods and over the years have had various tests and scans all of which were “normal”.  Well, apart from the fact my first ovarian scan showed a 2cm cyst which I was told was cyclical (they know this how?!) and 12 years later my second ovarian scan showed a 5cm cyst.  Turns out I have polysystic ovaries and due to my endo some were blood filled and when they burst caused excruciating pain and adhesions :-/  My first pelvic MRI at my local hospital showed absolutely nothing untoward, yet an MRI at a specialist endo centre six months later showed extensive endometriosis which even I could see on the scan!  So it turned out that the excruciating pain I’d lived with for the better part of 40 years wasn’t “normal” after all and I needed an urgent hysterectomy.

Anyone with Hypermobile Ehlers-Danlos Syndrome will tell you how painful and disabling the condition can be, yet nothing shows up on tests.  Genes and skin are normal, as are scans and x-rays.  Before I suspected hEDS I was told by medical staff that I was just “sensitive to pain” which made me feel like a total loser – little did they know I lived with pain most days that would have a healthy person reaching for the Vicodin and I did it without so much as a murmur, so far from being sensitive to pain the opposite was, in fact, true.

Here’s the thing I wish Doctors took more on board – if a person is having symptoms there is a problem, even if test results look “normal”.  I wish they’d listen more to what we’re telling them, take a full history and trust that we know our bodies better than they do.  What is “normal” for a 6ft 4″, 16 stone, male, thirtysomething rugby player might not be “normal” for a 5Ft, 7stone, teenage girl.

Back pain at the age of 11 is not “normal”.  Gynae pain so severe you’re curled up in the foetal position every month is not “normal”.  Fainting is not “normal”.  Widespread pain is not “normal”.  Seizures are not “normal”.  Fatigue which puts you in bed by 4pm every day is not “normal”.  Collapsing after every meal is not “normal”.  Flushing is not “normal”.  Daily nausea is not “normal”.   I don’t care that all my tests indicated nothing was  wrong, because something clearly was and it wasn’t something trivial to cause that much havoc.

My cynicism towards the medical profession is now legendary – that’s what comes of being fobbed off or 40 years that all is well.  In the end, I had to guess what my diseases were and inform my Doctors, who then did the relevant tests which, surprise!, came back not normal in any way 😉  I trusted my instincts, even though when I was younger I didn’t have enough confidence to challenge my Doctors.  I know there are some people who are hyper-vigilant and obsessive and who think they have some dreaded disease from every little ache, pain and niggle (I’ve met some of them online!) but I know my personality and know that I’m not a drama queen or someone who focuses abnormally on my body (again, the opposite is true and I actually ignore symptoms when I really shouldn’t!).

These days I’ve gained a fair bit of knowledge about my body and I know what’s normal for me and what’s not.  If I’m not happy with a consultation I’ll research the best doctor to see and request a referral even if it’s hundreds of miles away (which is my legal right).  I request a copy of my test results and will push for treatment or further testing if I think it’s needed.  After all, I’m the one who has to live in my body and suffer my symptoms, not my Doctor.

 

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? 😦