Category Archives: Medical & treatments

The “demanding” patient

My blog is followed by various medical professionals and when I posted my Blood Test Results this morning I received a pompous reply from a GP telling me the post was inflammatory, being a “demanding” patient gets people nowhere and I didn’t have a clue what I was talking about.  Not one to shy away from criticism I thought I’d post a reply.

1. I’m sick y’know

Possibly this GP doesn’t realize the monumental effort it takes for someone with M.E. and a brain injury, who suffers from dyslexia, to write an entire blog post.  Seriously, I am fucked for hours afterwards.  The fact I now feel the need to write a second post in the same day is going to make me feel shit until tomorrow.  That all my efforts to share my experience in the hopes of helping other people in the same boat as me is met with such lack of understanding is hugely saddening.

I am not inciting other people to act.  I’m simply sharing my thoughts and experiences.  If anyone else finds my experience helpful brilliant.  If not feel free to jog on.

2. Doctor knows best

Until he/she doesn’t.  I was born with Ehlers-Danlos Syndrome.  My hypermobilty had been commented on by dozens of medical experts over the years, all of whom didn’t bother to examine me further or tie together my myriad symptoms, despite the fact they were all huge red flags for hEDS.

My own GP had never heard of the condition, and the Consultant Immunologist who I’d been seeing for over two decades with my M.E. put my widespread pain down to my hypermobility then didn’t bother to investigate the issue further, despite the fact I’d had spinal surgery for a disease rare in children but indicated in hypermobility syndromes.

If I’d left it up to any of the medical professionals I’ve seen over my lifetime I would never have been diagnosed with EDS.  On averge it takes an EDS patient a decade to be diagnosed and for me it took 42 years.   Even then I had to diagnose myself and persuade my GP to refer me to an EDS specialist.  This is due to lack of knowledge amongst GPs in particular and the medical profession in general.  Which isn’t my fault or something I should be blamed for.

When I started passing out after every meal the Gastroenterologist I saw said it was IBS.  FFS!  Because none of his standard, routine tests showed anything I was dismissed from his clinic with some Buscopan.

I have had to become my own expert patient.  I’m sorry the GP who commented thinks that patients know bugger all about their own bodies, tests and diseases but the truth is they often know more than most all of the doctors they see especially when their disease is rare.  If I hadn’t researched mast cell disease and asked my GP for a referral to Dr Seneviratne I might now be dead, because far from having IBS I was having anaphylaxis.

My GP clearly admits she knows zero about my rare diseases, so when she’s not worried about test results which may indicate kidney disease that doesn’t mean I shouldn’t be worried, because I know that mast cell disease can affect the kidneys as outlined in Dr Afrin (world expert on MCD)’s book.  So maybe in a healthy person my results are nothing to be concerned about, but when you bear in mind my pre-disposing factors it’s something which warrants further investigation.  My GP, unaware that MCAD might predispose me to kidney disease, doesn’t know this information so I do need to point it out and ask for further investigation because she’s not going to offer.

If being informed about my own health when my doctors clearly are not, and continuing to seek answers to my non-standard symptoms and test results makes me “demanding” then I guess I’m guilty.  But at least I’m diagnosed which I wouldn’t have been if I hadn’t firmly pursued my symptoms regardless of the fact that my GP wasn’t concerned.

3. Experiences differ between people

I’m sure the experience of the NHS from the point of view of a busy GP is wildly different to that of his or her patients.

I was bedridden with M.E. for nearly a decade.  During that time I lost my hair, speech, ability to eat solid food, had seizures, my hands and feet turned in and I was in extreme pain (to name but a few of my symptoms).  But test results didn’t show anything so I was left, alone, to just get on with it.  I nearly died.

The experiences of the medical profession I had during those 10 years are so horrendous they have left me traumatized and almost phobic about seeing a doctor.  I was neglected, stigmatized, suffered outright hostility, blamed for my own disease, blamed for the fact I didn’t recover, disbelieved and lied about.  This and my experiences of having hEDS and MCAD have hugely coloured my view of the NHS and the people who work therein.  Some of whom are fabulous, wonderful, kind, caring human beings.  And some of whom absolutely are not.  I do hope the GP who commented on my post has watched ‘Unrest’, the docu-film on M.E.  Maybe then he’d understand more my lack of faith in doctors and believing they know more than me about my body.

4.  The drugs don’t work

According to this GP the Spatone I’ve been taking is next to useless, which is a surprise being as though it’s recommended by Midwives all over Britain to pregnant women who can’t tolerate regular iron supplements.  Maybe my ferritin levels have increased from 18 to 46 by magic!  Or maybe it’s the Spatone, cos I certainly can’t eat enough beans to have made such a huge difference baring in mind I feel nauseous much of the time.

I’m now off to collapse in my bed to recover from this bloody nonsense.

 

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Blood test results

Having felt rubbish since the start of the year, with persistent and often disabling day-long dizziness, overwhelming fatigue, sleeping like the dead, flattened toe nails and tinnitus, last week I had a blood test to check things like my iron levels, red blood cell health, B12, folate, thyroid and various other bits ‘n bobs.  My symptoms were all indicative of anaemia and being as though I have 5 risk factors for the disease and my periods are now heavier than usual due to the peri-menopause it was a no brainer to me that I’d be anaemic.  Er, think again.

I last had my ferritin (iron) level checked back in April and it was 18ug/L.  The normal range is 17-291ug/L so I was right on the bottom rung of the iron ladder, however because I was still within the “normal” range my GP was unconcerned.  She wasn’t the one feeling like a washed out rag doll, however, so I took a closer look at my vegetarian restricted diet, making sure I incorporated more iron rich foods like beans, nuts, quinoa and lentils with both my lunch and dinner every single day and started myself on some supplements.  Iron tablets are renowned for playing havoc with your stomach and making you hugely constipated and as I already have intestinal pain, nausea and difficulty pooping I opted for Spatone which is simply spring water naturally enriched with easily absorbed iron.  I’ve had zero side effects from Spatone, despite recently taking 2 sachets per day (which is suggested for pregnant women with anaemia) rather than the recommended 1.   Fast forward 8 months and my ferritin level has gone from 18ug/L to 46ug/L which still isn’t brilliant (it should really be over 90ug/L) but is a huge improvement.  Couple that with the fact my B12, folate and red blood cells are bang in the middle of the normal range and my symptoms definitely aren’t down to anaemia, which is good on the one hand but still leaves me with crippling unexplained symptoms.

In the UK we usually ring up the receptionist for our blood results and she just tells us that “everything’s fine” if they all come back within the normal range, however I urge people to actually go along to the health centre and request a print-out of the results.  Mine have been revelatory.  If I hadn’t asked to actually see them back in the Spring I would never have known that although my ferritin was “normal” it was only normal by 1ug/L.  I would also have never seen my kidney (GFR) results, which were accompanied by a warning exclamation mark so were anything but “normal”.  My first kidney test was done back in February and came back at 73mL/min/1.73m2.  The normal range for my age is 90-120 so my kidney function was way off.  I queried this with my GP who again was totally unconcerned and said it’s only a snap shot and maybe I was just dehydrated.  I know that I am never dehydrated because I drink pints of water throughout the day but I had to just leave it at that.  When I had further bloods done in April I asked for my GFR to be repeated and this time it was 82, which was an improvement but still nowhere near normal.  This time my GFR test is back at 78, which is indicative of Stage 2 chronic kidney disease.  How this can be considered “normal” and not concern my doctor staggers me especially when mast cell disease can affect the kidneys and coupled with something else I discovered buried in my blood results.

Magnesium levels are kept within very small parameters by our kidneys and the normal range is 0.70-1.00mmol/L, but my result came back at 1.10mmol/L which is considered to be mild Hypermagnesemia, an electrolyte imbalance, and my result was accompanied by a warning exclamation mark.  There is loads of information online about magnesium deficiency and very little about high magnesium, which is usually only found in people taking drugs high in magnesium (which I’m not) or in the end stages of kidney disease.  The fact that it is a sign of poor kidney function, fits many of my symptoms like dizziness, weakness and sleepiness, and couple with my abnormal GFR results to me rings alarm bells.  My GP, though, is still totally not bothered!  It seems that you only get to see a renal specialist if your kidney function is under 40. I’m sure that if they caught chronic kidney disease earlier and tried to find out the underlying cause and treat that less people would wind up in end stage kidney disease and on bloody dialysis!  There is zero preventative health care here in Britain and it drives me insane.

I’m a very cautious person who tries to manage my diseases using proven scientific measures.  I do worry about all the people out there who put themselves on all manner of supplements and hugely restricted diets without involving their GP and having the effects regularly monitored.  If you’re swigging Gaviscon, eating Rolaids or taking magnesium supplements you really should have your magnesium and potassium levels checked regularly.  Ditto B12, folate, protein and iron levels if you need to be on any kind of restricted diet.  If you are on drugs for stomach acid like PPIs or H2 blockers this can interfere with the absorption of nutrients like iron and B12 so again you should have a yearly blood draw.  I know this is hard to achieve here in the UK where we can’t just ring up and request a blood test so it’s important to be firm with your overworked and stressed GP – it’s your body.

Having said all that I probably won’t do anything about my abnormal results, though I’ll probably request my magnesium and kidneys are re-tested in 6 months time.  If the results remain the same then I’ll battle my GP on referring me to a specialist to find out what’s going on bearing in mind I have mast cell disease which predisposes me to all sorts of potentially serious complications and about which my GP admits to knowing absolutely nothing just as she admits to knowing nothing about my Ehlers-Danlos and the complications of that.

 

Anaemia update

Last Christmas I realized I was feeling ropey and had been feeling extra rubbish for quite some time.  I was dizzy, constantly.  I could be sitting watching TV and all of a sudden the room would lurch to the left and back again, and there were days when every time I moved my head the world tilted on its axis.  I could sleep for 8 hours straight which is unheard of for me and two hours later need to go back to sleep (I’ve never slept during the day no matter how ill I’ve ever been not least because ME has given me horrific insomnia).  My brain was so fuzzy I literally couldn’t form cohesive thoughts and I had exhaustion so profound some days I couldn’t get off the couch.

Of course, all of these are symptoms of my pre-existing conditions but this felt totally different to my normal rubbish-ness and I knew I wasn’t having an M.E. relapse or a mast cell or EDS flare.  No, something else was going on and I instinctively knew it was related to my iron levels particularly as when I had my period I was absolutely poleaxed.

As outlined in my first post on Anaemia back in February I have several risk factors for iron deficiency and, coupled with my peri-menopause and worsening endometriosis, I knew I needed to get my ferritin levels checked.  They unsurprisingly came back at 17 which according to the lab results was right on the bottom rung of ‘normal’ (17-291), though realistically in order to feel well you should have a ferritin level of at least 50 and preferably above 90.  My vitamin D was also considered sub-clinically low, ie outside the normal range.  My GP dismissed anaemia though because my red blood count was fine and basically just fobbed me off, however she wasn’t the one feeling so crap she couldn’t function so I started on some over-the-counter supplements.

My mast cells seem to hate tablets of all descriptions, so my options are limited to liquids and syrups which are few and far between.  In addition, many of the liquid iron preparations such as Floradix contained all sorts of ingredients I didn’t want or need such as apples (to which I’m mildly truly allergic), spinach, nettles and CoQ10.  So I opted for the ‘Get More Vitamin D mango & passionfruit‘ drink and ‘Spatone‘ natural iron water both of which I could have delivered with my groceries from Tesco.

I have about 200ml of the Vitamin D drink each day, which tastes OK but not brilliant, and gives me 80% of the recommended daily allowance of Vitamin D.  According to my GP, the lab won’t re-test Vitamin D for 12 months so I’ve no idea whether or not my levels have improved after nearly 10 months of supplementation.

Spatone is a sachet of naturally iron rich water which I take mixed in pear juice (the vitamin C aids absorption of the iron and disguises the awful metallic taste).  Iron supplements are, however, notorious for causing nausea, reflux, constipation or diarrhoea and I must admit after 4 days on Spatone I felt sick 24/7 and had awful colic-like stomach pain.  So I had a break for a week, then re-started the sachets but just taking a teaspoon per day and gradually working up to a full sachet.  This worked fine and I had no side-effects whatsoever 🙂

Within a week of starting Spatone my dizziness almost disappeared and I did feel a bit less tired which was great, but unfortunately for me the effects haven’t lasted.  By September I was starting to feel battered by exhaustion again, wanted to sleep for England, was as white as a sheet and feeling constantly dizzy.  In addition I seem to have developed tinnitus, which is a constant low level high pitched ringing hiss in my ears, and I’ve noticed a change in my toe nails (but not my finger nails!).  One of my toe nails has split and despite the nail continuing to grow it just keeps splitting in the same place, while the other nails have started to flatten at the ends.  Spoon shaped nails are a sign of anaemia, but when you Google images you only see horrendous photos at the severe end of the spectrum which bear no resemblance to my mildly flattened nails.  So here’s a couple of pictures of what’s happening for me:


I doubled my dose of Spatone but it didn’t help.  In fact, my symptoms continued to get worse so I rang my GP again, who tried to fob me off by saying that as I already have ME the peri-menopause is going to knock me about, but I tried calmly to explain that I know what ME feels like and this is completely different.  I insisted I wanted my bloods done again, in particular my ferritin and thyroid, although I’m sure my thyroid is fine as I’m not cold and have had no weight loss or gain issues other than that expected of going through The Change.  The first appointment for a blood draw I could get isn’t until 7th December (!), then of course it has to be sent to the lab, analysed and the results sent back to my GP by which time it will be sodding Christmas and everything will grind to a halt until January when it will be so busy getting another appointment with my GP to discuss the results will be impossible.  So I’m now trying to find a different liquid iron supplement to take but am so far struggling.  The thought of feeling this awful for at least the next several weeks, and in particular over Christmas, is pretty depressing.

When you have a chronic disease doctors do tend to put every single symptom you have down to that and it’s often a fight to get them to investigate new symptoms.  But investigate them you must, because it’s been my experience that all the new symptoms I’ve developed over the years have been down to hitherto unknown diseases and were nothing to do with my pre-existing M.E.  In particular, trying to get my chronic pain recognized was a mare because all the doctors I saw simply put it down to part of parcel of M.E. or tried to diagnose me with Fibromyalgia when I knew it was something else, which of course turned out to be Ehlers-Danlos Syndrome.  Then my stomach issues were put down to my EDS, when they turned out to be Mast Cell Disease.  And now my rubbish-ness is being put down to the peri-menopause or my M.E. when it’s going to turn out to be anaemia or at the least iron deficiency.

It’s so hard to fight the medical profession for treatment when you are this exhausted and there are days I feel like putting up and shutting up, but unfortunately that’s not an option when I am so floored I can barely get through the day.  So I shall keep on plugging away until I find out what’s actually going on and come up with a solution.

 

 

 

 

Weekly roundup update

As I drew up to my house in the car this morning after walking Bertie there was an ambulance and police car at my neighbour’s house.  The Carer had found her dead on the floor.  She had tried to get up in the night, fallen and lain on her own in the dark probably praying for help and becoming hypothermic until she died.   She had only been out of hospital for 36 hours. It’s a fucking disgrace.

I spoke to the ambulance men and told them that I’d written to the hospital about my concerns that she wasn’t fit to be allowed home, her house was infested with vermin and her care situation inadequate.  The paramedic couldn’t believe his ears and just shook his head in disgust that they had still discharged her.

If this is how we treat vulnerable, frail, 90 year old human beings we should be ashamed as a nation.

The Coroner now has to decide if there needs to be a post mortem, but when he learns she had cancer he probably won’t bother.  So no inquest either and the whole situation will be swept under the carpet and forgotten.  No-one will know that she actually died of neglect and inappropriate discharge from hospital.  And that makes me furious.

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.

 

 

 

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.