HSD v hEDS

I’ve been asked to write a post on the differences between Hypermobility Spectrum Disorder (HSD) and hypermobile Ehlers-Danlos Syndrome (hEDS) and how each of the conditions are diagnosed.

Before I start, I’ll just talk a little about the new and old terminology.

  • EDS III has been replaced by hEDS – both refer to hypermobile Ehlers-Danlos Syndrome.
  • Benign Joint Hypermobility Syndrome (JHS) has been replaced by Hypermobility Spectrum Disorder (HSD).

Historically there has been much confusion between general hypermobility (HSD) and Hypermobile EDS (hEDS) and in 2017 an international group of doctors and patient groups came together to devise new criteria to help differentiate between the two.  Having said that, it’s now thought they are basically the same disease just on a spectrum and it’s possible that although you may be diagnosed with HSD at one point in time, as you age new symptoms could present themselves and your diagnosis could change to hEDS.  This was the case for me.  I was initially diagnosed with Joint Hypermobility Syndrome (now called Hypermobility Spectrum Disorder) but this was later changed to hEDS as my symptoms increased and new symptoms appeared.

When women reach their 40s and start to enter peri-menopause symptoms definitely may change.  For example I used to be hugely hypermobile, scoring 8/9 on the Beighton Score, but now I’m 50 I’m so stiff I’d be lucky to score 3/9!  So the new criteria take this into account, with the question “can you or could you ever” do the splits for example.  And of course, symptoms like dental over-crowding are most relevant to children not adults so taking a good history is very important in the diagnostic process.  So what exactly are the new criteria?


HYPERMOBILE EHLERS-DANLOS SYNDROME (hEDS)

Patients need to have ALL 3 of the criteria below:

Criterion 1: Generalized Joint Hypermobility (GJH)

Tested for using the Beighton Score.
Children, younger adults and older adults are treated differently as hypermobility decreases with age:
Children need a score of 6 or more out of 9.
Adults need a score of 5 or more out of 9.
Adults over 50 need a score of 4 or more out of 9.

However, some people’s score may be affected by surgery or, for example, an unrelated disease (my Mum has Dupytrens Contracture and can’t even straighten her fingers let alone bend them backwards).  In these cases a 5 point questionnaire is used.

  • Can you now (or could you ever) place your hands flat on the floor without bending your knees?
  • Can you now (or could you ever) bend your thumb to touch your forearm?
  • As a child, did you amuse your friends by contorting your body into strange shapes or could you do the splits?
  • As a child or teenager, did your shoulder or kneecap dislocate on more than one occasion?
  • Do you consider yourself “double jointed”?

A “yes” answer to 2 or more questions suggests hypermobility.

My experience of the Beighton Score

If I had seen a Rheumatologist not really clued up on hEDS I would probably never have been diagnosed.  I have never been able to place my hands flat on the floor with straight legs, my thumbs do not bend inwards to my wrist and my knees don’t particularly bend backwards, yet I was given a score of 8/9!  The reason being I was clearly hypermobile in other joints.  My thumbs bend outwards by 45 degrees, not inwards.  My wrists are hypermobile.  I used to be able to do the splits.  I’ve been told my whole life by doctors that I am “double jointed”.  I have hypermobile ankles.   My knees roll inwards just not backwards!  I have hypermobile toes.  I was also 42 when diagnosed, so no spring chicken.  Taking all of these non-beighton scores, and my age, into account my Rheumy decided I was clearly hypermobile and she was correct to do so.  There are photos of my joint hypermobility on my blog here.

Criterion 2: Two or More Among the Following Features (A–C) MUST Be Present (for Example: A and B; A and C; B and C; A and B and C)

Feature A: systemic manifestations of a more generalized connective tissue disorder (a total of five must be present).

  • Unusually soft or velvety skin.
  • Mild skin hyperextensibility.
  • Unexplained striae such as striae distensae or rubrae at the back, groins, thighs, breasts and/or abdomen in adolescents, men or prepubertal women without a history of significant gain or loss of body fat or weight
  • Bilateral piezogenic papules of the heel.
  • Recurrent or multiple abdominal hernia(s) (e.g., umbilical, inguinal, crural)
  • Atrophic scarring involving at least two sites and without the formation of truly papyraceous and/or hemosideric scars as seen in classical EDS.
  • Pelvic floor, rectal, and/or uterine prolapse in children, men or nulliparous women without a history of morbid obesity or other known predisposing medical condition
  • Dental crowding and high or narrow palate.
  • Arachnodactyly, as defined in one or more of the following: (i) positive wrist sign (Steinberg sign) on both sides; (ii) positive thumb sign (Walker sign) on both sides
  • Arm span‐to‐height ≥1.05
  • Mitral valve prolapse (MVP) mild or greater based on strict echocardiographic criteria.
  • Aortic root dilatation with Z‐score > +2

My experience of Feature A

  • I have been told my whole life that I have beautiful skin – I didn’t realize that other people didn’t have skin which felt velvety to the touch.
  • One of the reasons I was initially given a diagnosis of JHS and not hEDS was that my skin was only mildly stretchy, so it’s good to see that it’s now recognized that circus freaky stretchy skin is NOT needed for a diagnosis of hEDS.  There are photos of my stretchy skin on my blog here.
  • I have no striae (stretch marks to you and me!).
  • I have piezogenic papules on my heels – this is what they look like:
Photo of piezogenic papules

Piezogenic foot papules

  • I have never had a hernia.
  • I have atrophic scaring in two sites – a small scar on my forehead after a childhood fall and also on the scar from my spinal surgery.  This is what an atrophic scar looks like, it’s kind’ve creased!

Widened, atrophic, cigarette paper scar

  • I’ve never had a prolapse.
  • I had dental overcrowding as a teenager and had to have 4 of my molar teeth removed.
  • I do not have Arachnodactyly (which is long, slender fingers or toes).  In fact, just the opposite – I have short, fat, stubby fingers and toes!  Read more about the Steinburg and Walker Signs here (I have neither).
  • I have no idea if I have an armspan to height ratio of greater than 1.05 as I’ve never been tested but I doubt it – I’m 5ft 2″ and have diddly little arms.
  • I do not have mitral valve prolapse or aortic root dilation.  Both of these symptoms must be checked by having a heart scan.

So, I personally score 5 out of 12 which means I fulfill Criteria 2, Feature A.

Feature B: positive family history, with one or more first degree relatives independently meeting the current diagnostic criteria for hEDS.

I have a real issue with this being part of the criteria.  What if you’re adopted, your parents are dead or you’re an immigrant whose parents are in another country like Syria?  What if, like me, you are not in touch with your biological father?  As it happens, I’m fairly sure I inherited hEDs from my Mum however she’s 78 years old, very ill and not willing to go through the testing procedure so I can’t say for certain that she does have hEDS. 

I can’t prove that I fulfill Criteria 2, Feature B.

Feature C: musculoskeletal complications (must have at least one)

  • Musculoskeletal pain in two or more limbs, recurring daily for at least 3 months
  • Chronic, widespread pain for ≥3 months
  • Recurrent joint dislocations or frank joint instability, in the absence of trauma (a or b)
    • a. Three or more atraumatic dislocations in the same joint or two or more atraumatic dislocations in two different joints occurring at different times
    • b. Medical confirmation of joint instability at two or more sites not related to trauma

My experience of Feature C

  • I didn’t start partially dislocating (called subluxing) my joints until I was in my early forties and I’ve never thankfully had a full dislocation.
  • I’ve had chronic, widespread and musculoskeletal pain for decades.

I’m not sure if having subluxations meets the definition of ‘frank joint instability’ (though I suspect it does), but nevertheless I pass the other two symptoms and therefore fulfill Criteria 2, Feature C.

Conclusion

Based on the evidence of having 2 out of the 3 Features listed above, I pass the test for Criteria 2.

Criterion 3: All the Following Prerequisites MUST Be Met

  • Absence of unusual skin fragility, which should prompt consideration of other types of EDS
  • Exclusion of other heritable and acquired connective tissue disorders, including autoimmune rheumatologic conditions. In patients with an acquired connective tissue disorder (e.g., lupus, rheumatoid arthritis, etc.), additional diagnosis of hEDS requires meeting both Features A and B of Criterion 2. Feature C of Criterion 2 (chronic pain and/or instability) cannot be counted towards a diagnosis of hEDS in this situation.
  • Exclusion of alternative diagnoses that may also include joint hypermobility by means of hypotonia and/or connective tissue laxity. Alternative diagnoses and diagnostic categories include, but are not limited to, neuromuscular disorders (e.g., myopathic EDS, Bethlem myopathy), other HCTD (e.g., other types of EDS, Loeys–Dietz syndrome, Marfan syndrome), and skeletal dysplasias (e.g., OI). Exclusion of these considerations may be based upon history, physical examination, and/or molecular genetic testing, as indicated.

My experience of Criteria 3

You rely heavily on your Consultant to fulfill Criteria 3, so you can only hope you see someone knowledge in hEDS.  I do have fragile skin which tears and bruises easily, but this is part of having hEDS – the trick is in knowing if this is abnormally fragile or not and I’m not sure where the cut-off point is.  In the UK, suspected hEDs patients aren’t routinely offered gene testing which I personally think is a big mistake.  There are times I feel I have cross-over symptoms with Classical EDS (cEDS) and the only way to rule this out is by gene testing.

Excluding other connective tissue disorders is also not as easy as it sounds.  There is no conclusive test for Lupus, for example, and I’ve never been screened for it to my knowledge.   Even diagnosing arthritis isn’t straight forward, as I know from first hand experience with my best friend who had been ill for 2 years before finally being diagnosed with a rare form called Palindromic Rheumatism (an autoimmune arthritis) which many Doctors have never heard of let alone look for.  I peronally have had general rheumatism excluded but little else.

Again, you’re reliant on your Consultant being extremely thorough and knowledgeable in rare diseases such as Bethlem Myopathy and OI and as we all know this is usually not the case.

I therefore have no clue if I pass Criteria 3 or not as none of these other diseases have ever been mentioned to me and I’ve never been offered gene testing for other types of EDS.

Other considerations

Under the General Comments section below Criterion 3 of the new diagnostic criteria, it is stated that other symptoms should be looked for when diagnosing hEDS, though they don’t officially form part of the criteria because they haven’t been studied enough yet.  They include things like POTS, gastro-intestinal disorders, dysautonomia and chronic fatigue.


HYPERMOBILITY SPECTRUM DISORDER (HSD)

So what happens if you don’t fulfill the diagnostic criteria for hEDS but are clearly hypermobile and having widespread pain and possibly other issues?  You are now classed as being on the hypermobility spectrum and there is now a new classification called Hypermobility Spectrum Disorder (HSD) which has replaced the old Benign Joint Hypermobilty Syndrome (JHS).

There are now different categories of joint hypermobility:-
Localized (L-HSD), in which the hypermobility is confined to less than 5 joints
Generalized (G-HSD), in which the hypermobility is seen in more than 5 joints
Peripheral (P-HSD), where the hypermobility is confined to the hands and feet
Historical (H-HSD), usually when the patient is older and no longer scores highly on Beighton.

Hypermobility in and of itself is fairly common, particularly in children, and can often be symptom-less and of no consequence.  However, a diagnosis of HSD should be considered if other symptoms are present but the diagnostic criteria for Ehlers-Danlos Syndrome isn’t met.  These symptoms include:

  • Trauma.
  • Chronic Pain.
  • Poor proprioception (ie being clumsy).
  • Other musculoskeletal traits, eg. flat feet, mild scoliosis, kyphosis or lordosis (ie upward or inner curve of the spine).
  • Other issues, such as POTS, gastrointestinal problems, anxiety, bladder dysfunction.

MY CONCLUSION

Since the introduction of the new criteria in 2017 the criteria for hEDS has become more strict so it’s harder to obtain a hEDs diagnosis, but the new HSD incorporates everyone with hypermobility, which wasn’t the case before.

It is now recognised that issues such as POTS, Mast Cell Activation Disorder, Chronic Fatigue, Gastrointestinal disorders and Dysautonomia are seen more often in the hEDS and HSD population and being diagnosed with these should point a Doctor in the direction of looking for connective tissue disorders, but not enough is known about them yet to include them in the actual diagnostic criteria, which is a shame because we all know how prevalent they are!  However, papers on all these symptoms are included as footnotes in the new criteria and can be found here.

This review has only focused on Hypermobile EDS as that is the type I have – different criteria apply for other forms of EDS, such as Classical and Vascular.


Further information

You can read all about the new criteria for hEDS here.

The criteria for HSD is here.

An excellent toolkit for GPs can be found here and is actually easier to understand than the official EDS information listed above!

 

 

 

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Weekly roundup

I’ve had another mad week.  Why is my life so busy and when is it going to calm itself down?!

Literally minutes after I posted last week’s roundup all hell broke loose.  I was out walking Bertie at 9am when I received a call off my Mum to say my Dad hadn’t opened his bowels for 3 days which we’d been told was a huge red flag and a medical emergency, so we ended up in A&E as I discussed in this post.  However, they couldn’t understand what all the fuss was about and simply sent him home with some laxatives, so on Monday I rang the RVI to see if that advice was correct.  It took them 2 days to ring me back (good job it wasn’t a sodding emergency) then the Doctor I spoke to wanted us to go through for an assessment the next day, but my Dad was having a long awaited cardiology appointment so we couldn’t.  The Doctor seemed most miffed we weren’t dropping everything to do as we were told (if he’d rung us back sooner we would have been able to!), so then decided if my Dad continued to be constipated to just go along to see our GP.  FFS.  Either he wanted to see him urgently or he didn’t need to – which was it?!  In desperation I rang my Dad’s GP and explained we didn’t know whether we were coming or going and she said all was fine, to increase the laxatives and if he still couldn’t poop to ring her back.  But taking double the dose has done the trick and so far so good.  Honestly though, my parents are both nearly 80 and all this conflicting information is really confusing and stressful for me let alone them :-/

Wednesday I had a fire.  I eat my main meal at lunchtime and had put some oil in the frying pan on high to heat up when the doorbell rang, so I turned the ring down to low and went to answer it.  When I got back 3 minutes later there were foot high flames coming from the pan – I’d mistakenly turned down the wrong ring 😮  I managed to shove the pan off the heat with a spatula and then dumped it in the sink, but the entire back of the cooker, walls and extractor fan were black with soot and despite both me and my cleaner scrubbing it numerous times it still hasn’t all come off 😦  It just goes to show how easily a fire can start though.  My kitchen units are solid wood, not melamine, and there is tongue and groove wood behind the stove not tiles – the whole lot could so easily have gone up!

This week I’m judging my first International photography Salon (which I’m able to do from my bed using an online system), so Thursday evening the other judges and I had to go to the other side of the county to be shown how to use the software.  Despite feeling unwell it was actually a fun evening out – I’ve been feeling quite lonely and isolated lately so it was just nice to be in other people’s company and to have a laugh and a bit of banter.

Friday my Dad was through in the city for a heart appointment.  Earlier on in the year he was having bouts of severe dizziness and the GP discovered he had bradycardia, ie an abnormally slow heart rate, so the Consultant has given him a halter monitor to wear for four days and it will be interesting to see if anything shows up.

Friday night I started with a migraine.  It’s so frustrating, because I know it’s coming but there’s nothing I can do to stop it bearing in mind I’m allergic to all the prophylactic drugs.  By 2am it was so bad I felt like I was having brain surgery without anaesthetic, so I caved and took some Ibuprofen.  My mast cells don’t much like it and it gives me tachycardia, muscle spasms and nausea, but just so long as I don’t have full on anaphylaxis I’ll put up with that if it relieves the head pain.  Of course, my fear is that one day it will develop into anaphylaxis so every time I take it I’m petrified.

In the end I only managed 2 hours sleep and the next day my head was still banging, which was a bugger because I’d arranged for a new lady who joined our Camera Club before the summer break to come to my house.  She wanted to enter the print competitions but didn’t know how to mount her images, so I offered to show her.  Her experience so far of our club has been that people are cliquey and unhelpful, which is mortifying as I thought we had a very friendly club, so I’ll feed that back to the powers that be.

This morning my head is still hurting and it looks like I’m having a period despite only being on day 13 of my cycle!  In addition, my back has been a bitch all week and I have had rampant insomnia which is now getting old – I just want some goddamn kip.

In between everything I’ve made a Herculean effort to finally finish the 15 images I’m using for my next photographic distinction and they are now being critiqued by photographers much better than I.  I’m so relieved to get them done because the deadline is only 6 weeks away and I was starting to panic.  Of course I still have them all to print off at A3 size and mount, so there is still tons of work to do – I just pray my 10 year old second hand printer behaves itself because it’s been playing me up lately.

The most surreal moment of the week happened last night.  I’m lying in bed feeling like death warmed up when this floats past my window – I’m wondering if it’s a new trick by the Department for Work & Pensions to spy on me to see if I’m actually in bed and as sick as I claim to be 😉

 

 

 

 

The truth about healthy eating

There was a programme on BBC1 last night called ‘The Truth About Healthy Eating’ (which was a repeat from 2016 but still interesting).  While some of the information was laughably basic there were still some surprising things to come out of experiments that were done on supposedly extra healthy foods (anyone who’s read my blog for a while knows that I think all this ‘super food’ malarky is shite and I’m incredibly skeptical about food claims in general).

One of the very interesting items to be covered in the programme was hydration.  We’re told to drink 2 litres of water per day, but actually research has shown that 1litre is optimum.  So they looked at whether that should just be water or whether all liquids counted.  Tuns out cow’s milk is more hydrating than water, and that fruit juice and coffee hydrated the people taking part in the experiment just as well as water.

In fact, as I’ve personally always thought, cow’s milk/dairy is super good for you.  It’s higher in absorbable B12 than meat and contains brilliant amounts of iodine, in comparison to almond and soya milk which contain hardly any.  We also think of dairy as high in saturated fat, but research shows the fat isn’t absorbed by the body like it is with meat.  In fact, consuming dairy with a fatty meal has been shown to help decrease fat absorption from other foods.

There was an interesting section on multi-vitamins.  Research shows they are basically useless  so long as you already have normal levels of vitamins in your blood and they don’t raise our vitamin levels one iota.  If we take in more Vitamin C, for example, than we need we just produce very expensive wee.  Our bodies are very good at maintaining an even level of vitamins & minerals, so consuming large amounts is next to useless.  In fact, research has shown that for people with certain types of cancer, skin and lung for example, those taking high doses of vitamins had a worse outcome than those who didn’t!

They carried out an experiment with blueberries which are high in anti-oxidants.  The anti-oxidants survived digestion but struggled to remain stable within the intestines and only 1% of them actually entered the blood stream.  This caused a spike in anti-oxidant activity so the body simply got rid of them in order to maintain the status quo.  After consuming a high anti-oxidant smoothie there were actually less anti-oxidants in the blood stream 4 hours later compared to before drinking the smoothie as the body tried to adjust, and the level was still lower than normal 8 hours after consuming the drink – this blew my mind.

There was also an experiment with tap water, putting it in expensive bottles with pretty labels and all sorts of advertising jargon the front, taking it to a work-out class and telling them it was a new mineral water.  The ladies thought it was 20% healthier than their usual water, 12% found it more refreshing than their usual water and 6% said it made them feel more hydrated.  Of course, it was only tap water – just goes to show how powerful marketing is and how we can be fooled into thinking a food with a label on tastes superior when it’s actually identical to the food without the label we’re measuring it against.  It also proves just how much of the hype we hear and read we believe, even though it has no basis in fact whatsoever.

The last experiment was to do with detoxing.  One set of students followed a ‘detox’ diet consisting of raw and steamed veg, 1 portion daily of wholegrain rice or quinoa, steamed fish, coconut water and a daily drink of hot water, lemon juice, maple syrup & cayenne pepper which is supposed to cleanse the digestive system, and the other set of students ate normally but healthily.  The normal healthy diet came out on top, with the detox diet showing no health benefits whatsoever – in fact, the students felt rubbish on it, pooped twice as much as normal and were lacking in energy.

We can’t look at food in isolation.  Eating is an incredibly complex bodily function and, as can be seen from the anti-oxidant research, what looks like a brilliant food on first inspection may turn out to be no better for us than any other food when we’ve actually eaten and digested it.   We also need to remember that much of the research done on food is funded by food manufacturers who have a vested financial interest in finding new and positive things to say about the food we consume.

For me, as long as I’m eating a healthy balanced diet I’m doing the best I can but even that is fraught with confusion because a normal balanced diet in the UK is going to be nothing like a normal balanced diet in Japan or Iceland!  Our genes play a huge part in what is healthy for us and what isn’t.  Some populations such as the Japanese, for example, have high rates of lactose intolerance whereas other populations such as the UK have very low rates.  Evolution also changes things dramatically.   In research, Neolithic DNA from Sweden showed 95% of those studied were lactose intolerant whereas only 25% of modern Swedes are lactose intolerance.  We’re all individual and what’s good for one person may be bad for another which is why I don’t give advice here on my blog or try to tell other people what to eat.

 

 

 

 

 

Conflicting advice

This post isn’t about my own health but it does go to show what we patients can face when dealing with Doctors and the conflicting advice they sometimes give.  It’s going to talk about poop, so if you’re having your breakfast finish your Cornflakes first 😉

My Dad has spinal stenosis caused by both arthritis and bulging discs in his back, is struggling to walk and is on the waiting list for surgery.  Last Tuesday I took him to the RVI Hospital in Newcastle to see the surgical spinal team for a consult.  He’s been struggling to poop for about 6 weeks now – he’ll miss a day, then the following day will poop but it can take him a good half hour before it makes its way out.  We were told by the Consultant that if the constipation got any worse we had to go immediately to A&E because it was an emergency and if it wasn’t sorted could mean he could end up with nerve damage to his bowel and a permanent colostomy bag.  It was our understanding that if he became severely constipated his back surgery would need to happen sooner rather than later.

Unfortunately this exact scenario happened just three days after the appointment.  His last bowel movement happened on Thursday and by Sunday morning he hadn’t pooped for 3 days, despite eating normally.  So we rang the GP who sent for an ambulance which took us to our local hospital.  I went with him and told them what the spinal Consultant had said – that if this happened it was an emergency and we had to report to A&E.

The Doctor who examined him seemed a bit baffled that we’d rocked up at A&E with constipation.  “Didn’t you think to just take a laxative?” he queried.

The upshot of 4 hours in A&E was that my Dad was given a suppository which made him poop and some Lactulose laxative to take before bed and sent home.

As a family we’re now all a bit confused.com.  After it being impressed on us by the spinal Doctor that severe constipation was an emergency, we were then made to feel a bit stupid for going to A&E with such a minor symptom and simply sent home.  So yesterday I decided to ring the RVI and ask the advice of the Surgeon as to what we should be doing, if anything.  I was told by his secretary that someone would ring me back but have they?  No.

Despite taking the laxative before bed on Sunday night my Dad didn’t poop again all day yesterday.  Something has clearly become worse in his spine and the nerves in his bowel aren’t receiving the correct messages to tell his muscles to shove the poop out.   The poo is all there, and could clearly be seen on the Xray in A&E, but it’s just backing up and my Dad is unable to expel it.  The Doctor in A&E said it’s not an emergency but the Doctor at the RVI said increasing constipation was to be taken very seriously.   What are patients supposed to do in these situations?!  I feel disloyal ignoring the advice of the A&E Doctor but at the same time he’s not a Neurologist who deals with spines every day of his working life, so I’m more inclined to believe the spinal consultant.  However, if he doesn’t return my call he clearly doesn’t think it’s important.  So when does it become important?   If my Dad doesn’t poop for 3 days, 5 days, a week…………..by which time his bowel could be damaged forever?  I am so confused and honestly have no clue what to do.

 

MTHFR Study

Back in 2016 I became aware of a gene study in which researchers at the Institute for Neuro Immune Medicine were hoping to put together a genetic database of over 10,000 patients with ME/CFS so that genetic information would be available for researchers looking into the cause of the disease.  Luckily I’d had my genetic data mapped by 23andme years ago so I was able to participate in the study which simply involved filling out a questionnaire and sending off my RAW data via email.

I heard nothing for 2 years and then this week received a message to say that I had a MTHFR mutation and researchers were interested in studying this.  Up to 50% of the population may have a MTHFR mutation and it doesn’t mean you are going to develop a disease.  In fact it usually has no impact on health at all, though it may predispose people to certain illnesses if other environmental factors are present or mutations in related genes are found.

Amongst other things, the MTHFR gene is responsible for the conversion of folate (also called folic acid or vitamin B9) from the food we eat into activated folate.  When the MTHFR gene is mutated this conversion doesn’t work as well and can result in a folate deficiency.  Activated folate belongs to a group of ‘energy’ vitamins and a deficiency may produce fatigue and cognitive changes.

The new study would involve taking a L-Methylfolate supplement (the active form of folate) for 3 months to see if it had any impact on symptoms.  Unfortunately, however, as the research involves a blood draw it’s only available to people living in the United States so sadly that rules me out which is a shame as the fact it doesn’t involve taking drugs means it’s probably the one study I could have taken part in!

My only concern with much of the current research into ME/CFS is that it focuses on fatigue, and while fatigue is obviously a large part of the disease ME is not chronic fatigue.  It’s characteristic symptom is post exertional MALAISE.  I feel ill when I’ve done too much (in fact, I feel ill most days of my life) and it’s this researchers need to study.  If I’m on the computer for too long I start to get a sore throat and if I walk too far I start to feel fluey – I’m not simply ‘tired’.  As there is no diagnostic test for ME many people with chronic fatigue of unknown cause have been diagnosed with it and it’s sadly become a bit of a dumping ground which can only muddy the waters for researchers.  If you take a L-Methylfolate supplement and suddenly feel loads better you didn’t have ME in the first place, you had a folate issue.

While the MTHFR gene has other functions and may be implicated in cardiovascular disease, I personally don’t think MTHFR mutations are going to be the answer to ME, at least not unless they have some kind of massive impact on people’s immune systems we as yet know nothing about.  That’s my take on the situation anyhow but then I am a cynical old timer 😉  In fact, I wrote a post about MTHFR back in 2015 which states my views on the whole MTHFR issue – be warned, I’m not exactly on board the MTHFR band wagon.

ME aside, if having a MTHFR mutation can make you tired that’s obviously not a good thing when you already feel like the walking dead.  Luckily folate rich foods naturally contain the active form of folate and studies have shown that a folate-rich diet can match the homocysteine-lowering effects of a L-Methylfolate supplement.  My diet is already quite rich in high folate foods, such as beans, lentils, broccoli and mangoes though if you have a MTHFR mutation and are unable to eat folate rich foods it might be worth taking a L-Methylfolate supplement but be warned they can have side effects which you can read about here.  Personally I’m not giving the whole MTHFR mutation a second’s thought, that’s just my personal choice.

If any of you would like an informative, easy to read guide on MTHFR there is a decent one here.

 

Weekly roundup

This week has been stupidly busy but much of it has been fun and if only the payback had some kind of fun side I would have enjoyed it.

Tuesday I drove my Dad 90 miles to see the Spinal Surgeon about his bad back, which would have been a tough day in normal circumstances but was even tougher considering I’d woken at 4.15am that morning and simply couldn’t get back to sleep and my period arrived while I was eating my breakfast.  It’s as if my body knows the one day I need to be on top form and deliberately rebels.  Then there was a fatal crash on the major trunk road which blocked the road both ways for hours, so we had to do a detour all round the houses which put us under pressure to get to the appointment on time.  However it all went well, apart from the fact our local hospital hadn’t sent the results of the MRI scan done the other week, and my Dad is now on the long waiting list for surgery.

Wednesday was both my Dad’s birthday and my Niece’s 21st.  My parents and I went out for lunch and then we all went to my Brother’s house at night for a bar-b-q, which would have been lovely had it not absolutely chucked it down.  So there were 25 people crammed in the lounge in boiling, humid temperatures while my poor Brother stood under a parasol outside cooking.  I struggle with these kinds of social situations.  There were kids running amok, dog’s excitedly barking and everyone talking at once.  My poor brain was so over-stimulated I was seeing stars and the fact that, once again, I’d been awake since 4.30am and I had my period which always makes me feel rubbish really didn’t help the situation.  By 8pm I was on the verge of collapse so had to come home, though of course my family know I’m not well and I think my Niece was just pleased I’d made the effort to go at all.

Thursday I felt like road kill and didn’t make it out of bed.

Friday my car was booked in for its MOT which meant hanging around in town, so I arranged to meet a friend for lunch while it was being done.  I then had to hare back home for an appointment with a builder – more on that in another post.

I should have spent the weekend in bed recovering like a responsible sick person but there was a Viking event on at a nearby Castle which was too good a photo opportunity to miss, so on Saturday I met up with a Camera club buddy and we took a few snaps before retiring to the cafe for hot chocolate and marshmallows, which was delicious but may be the reason I’ve woken this morning with a stonking headache!  I feel like absolute crap today but that’s to be expected after such a busy week.

In between everything I’ve started to panic over the fact that I need to get my arse in gear in respect to my photography.  I’ve decided to try for my next Distinction and there is a shed load of work to do between now and the October deadline.  Having borrowed a friend’s camera I have managed to finish my latest creative picture, though, which is great as it’s going to form part of my submission.  The standard of the Distinction is really high and to be fair I probably won’t get it but nothing ventured nothing gained.  I’m also doing two talks in October and really haven’t given them much thought, so really do need to get cracking as the time will fly by.  The next 2 months are going to be the busiest of my whole year and I just pray my body and brain holds out!

 

The M.E. Show

I’ve been awake since 4.15am and feel like death warmed up so this is just a short post to share details about the M.E. Show for those who don’t know about it.

Gary Burgess is a journalist and broadcaster who was diagnosed with M.E. last year and decided to do a series of podcasts on the disease.  There have so far been 10 episodes, each containing different guests speaking about various aspects of the illness from life with severe M.E. to advocating as an MP in Westminster.

You can find more about the podcasts on the ME Association’s website where you can also listen to all 10 broadcasts.