Category Archives: Medical & treatments

In an ideal world…

….. what would I actually want and need from a good health-care service?  We whinge a lot about what we don’t receive and don’t talk about what we’d ideally like.

1.   BELIEVE US

A poll was conducted recently on the ME Association website about this very issue, and number 1 on the list of things we’d all like is simply to be believed.  It’s not much to ask is it, doesn’t cost anything, but would make a massive difference to our experience of living with chronic illness.  Yet I know it often doesn’t happen.

My first example of not being believed took place when I was just 14 years old.  I’d had back pain since I was 11, brought on by a fall through the 1st floor of an outbuilding, yet because nothing showed up on x-rays and I complained that physio made me worse not better, I was told I was attention seeking and was obviously just unhappy due to problems at home.  And then when I was 16 CT scans were invented.   I insisted on having one, which showed rare congenital spinal stenosis necessitating urgent decompression surgery.  Obviously it’s not the medical profession’s fault that X-rays don’t show this kind of issue and CTs weren’t available, however to tell a teenager who is sleeping on a board due to severe back pain and can no longer take part in the sports she loves that her pain is “all in her head” is wrong on every level.  This disbelief and blaming of me, the patient, for my own health issues has been a long running theme throughout my life and makes me really, really angry.  That anger transfers as mistrust in the medical profession, which in turn does not lend itself to good relations with my caregivers.  All it would take for this mistrust not to have developed would be for a doctor to have said to the young me “I know you’re in pain, I know there’s a pysical problem, but unfortunately we don’t yet know what that problem is.  While we figure it out we’ll work together on pain relief until we find something which works for you”.

2. COMPASSION

Hot on the heels of being believed is to be treated with empathy and compassion, which you would think is the bedrock of medical care yet has been largely absent in my dealings with doctors.

Following meningitis, I was bedridden with M.E. for a decade during which time I spent 4 months in a semi-coma unable to open my eyes and crawled to the loo and back on my hands and knees.  Yet I vividly remember a visit from a GP who said to me and I quote “my wife is away, I have 2 children and a full-time job – you don’t know what tired is!” and he was deadly serious.  A subsequent visit from a locum GP told my parents I was so critically ill I might not make it through the night and asked whether I wanted to spend my final hours at home or in hospital.

We’re not daft enough to think that doctors have all the answers to our health issues, but to be treated with dignity and respect costs nothing and I do expect that from the people involved in my care.

3. MONITORING

I have been ill now for 26 years and during that time I have had no monitoring from my GP, nor anyone else.  I was bedridden for years, which can cause pressure sores, muscle wasting and issues with continence, yet I only ever saw my GP if I requested it and was never visited at home by a nurse.

As we age, regular monitoring becomes ever more important.  We are more prone to osteoporosis, blood pressure issues, high cholesterol and heart problems due to lack of activity, plus vitamin D deficiency if we are housebound, and things like low thyroid function, B12 deficiency and anaemia are easily missed when one is exhausted all the time.   It’s not too much to ask to have a yearly medical and blood tests.  It would cost peanuts in the scheme of things and take 15 minutes of a nurse’s time (30 mins if they had to come to the house).

4. A SPECIALIST POINT OF CONTACT

Getting on to the nitty gritty of living with chronic and or/complex diseases, I’m sure all of us would love a single point of specialist contact like MS patients have with their MS nurse.  My GP is really nice and very approachable, but getting in touch with her is like pulling teeth and she has 7 minutes in which to speak to me, consequently our conversations are rushed and stressful and I know she can’t wait to get off the phone and on to her next patient.  Nurses often have more time and if one had been trained in my particular illnesses and I could ring her for advice on a particular injury, or worrying symptom, a change of drugs or even simple things like being consitpated it would make the world of difference to me.  I have felt utterly alone in dealing with my diseases over the decades which has definitely impacted my mental health.

5. SKYPE!

We are very lucky to live in the digital age, yet here in the UK we seem to be stuck in the 20th century.  When you have a disease like M.E., and just getting dressed can make you feel like you’re dying, medical professionals need to make more use of the internet and Skype appointments.  We don’t always need to be physically present for a consultation and it would make the world of difference to severely ill patients if they could speak to medical professionals over the net, or even over the phone!  This is particularly important for patients, like myself, who live in rural areas and have to travel huge distances to hospital.

As my regular readers know, my Dad is having health problems and is under the care of neurology at a hospital 90 miles away.  We had an appointment recently with the spinal surgeon.  It had taken us nearly 2 hours to get there, the Clinic was running late so we’d sat in the waiting room for an hour, and we went in to the appointment only to be told “I’m not going to do your spinal surgery until you’ve seen the orthopaeds about your hips, so make another appointment at reception for about 6 months time.”  Really?!  Literally an entire day spent travelling and sitting around a hospital for an 80 year old with crippling back pain for that, when he could have rung us and said the same thing.

6. CO-ORDINATED CARE

This is the Holy Grail for anyone with multiple and/or complex diseases.  At the moment each Consultant deals with their particular speciality and doesn’t talk to the other health-care providers.  My Dad is a case in point.  He needs spinal surgery so is under the spinal team at Newcastle.  He’s also under neurology at Newcastle due to severe neuropathy.  He’s been diagnosed with the auto-immune disease Sjogren’s Syndrome, so will be seen by Rheumatology at our local hospital.  He also has a kappa paraprotein in his blood so is under Haematology at our local hospital.  He needs a hip replacement, so is being seen by Orthopaedics at Hexham hospital.  He is B12 deficient, so has injections at our local health centre from the nurse.  He needs cataract surgery, whichis being performed at Sunderland Eye Infirmary.  And his GP works 2 days a week so we can never get an appointment with her.  There are times I’ve literally pulled my hair out trying to co-ordinate his care and, before his diagnoses, for each Consultant to speak to the other Consultants about his symptoms.

Because each Consultant works independently, care is not continual.  Again, my Dad is a classic case.  The local muscular-skeletal team knew he had spinal stenosis so referred him to the surgeons at Newcastle.  He was then seen as a new patient, so his MRI was unnecessarily repeated and he was then placed at the bottom of an 8 month waiting list.  When we finally saw the surgeon he said my Dad had more pressing issues with his nervous system, so referred him to neurology where he had yet another unnecessary MRI scan, then was seen as a new patient and placed at the bottom of a 6 moth waiting list (it was only my huge efforts for him to be seen urgently which resulted in a faster appointment).  The neurologist ordered tests for Sjogren’s Syndrome which came back positive, so referred him to Rheumatology where he is now being seen as a new patient, will have all his tests unnecessarily repeated and placed at the bottom of an 8 month waiting list.  And so on ad nauseum.  It has taken 1½ years to finally get to the bottom of his multiple issues because for each referral he was treated as a new patient and all the tests and investigations were ordered afresh.  If you are referred by a Consultant to another Consultant you should be treated as an ongoing patient, which would mean much faster appointments.  Test results also need to be transferred with you so they don’t have to be repeated!  It’s not rocket-science, particularly when we have the internet and patient records can be accessed online from any hospital in the country.

7. ACCESS TO SPECIALISTS

There will always be times when you need to seek specialist help, however accessing knowledgeable Consultants is usually the hardest part of having rare and/or misunderstood diseases.

There are various ME/CFS clinics around England – my nearest is a 180 mile round trip away.  There are only 2 specialist EDS Centres in England – both are a 6 hour round train journey away, and in any event don’t see hEDS patients who also have M.E.
My nearest MCAS consultant is also a 6 hour train journey away, and recently refused to see me.
There are no specialist services in Scotland, Wales or Northern Ireland for any of my 3 diseases as far as I’m aware which is a disgrace and I’m surprised patients haven’t banded together and sued the health service for lack of care.

My GP is under the impression that, having been diagnosed, I don’t need to see a Consultant because none of my conditions are curable and she can provide ongoing care.  This is not the case.  I have severe endometriosis and need a hysterectomy.  I was seen at the specialist endo centre, 90 miles away, last year but due to my severe MCAS-related drug allergies they wanted to speak to my Mast Cell consultant before deciding on surgery.  Only, I don’t have one and because there was no-one for the Gynaecologist to consult with over my MCAS she decided blind surgery would be too risky, so I’m now continuing to live with excruciating chronic pain instead.  A few years ago I needed a tooth extraction.   I had to have this done in hospital as the tooth roots were near my sinus cavity, and again the Dentist wanted to speak to my MCAS consultant about how this would impact my mast cell disease.  Only, I don’t have one.  I recently had an endoscopy for my stomach issues and severe GERD and in order to know if my issues were mast cell related I needed a biopsy where the cells were ‘blue stained’.  I requested this, only they wouldn’t do it because the order hadn’t come from a Consultant.  That’s because I don’t have one.  So now I know I have gastritis but not why.  It’s for situations like these that having a specialist referral point is so important, yet they are lacking for the majority of M.E., hEDS and Mast Cell Disease patients.

CONCLUSION

Notice that not one of my wish list includes actually being ‘cured’.  I know that’s not possible, but just because I can’t be ‘cured’ doesn’t mean I shouldn’t be monitored or have access to specialist services should they be needed.  Two of the items on my wish list would cost money, but the majority would either cost nothing or peanuts.  All it would take is a will to offer services for severe, chronic and/or complex patients and it’s the will which is lacking, for which there really is no excuse.

Another M.E. Death

The M.E. community were shocked and saddened to hear of the death of M.E. warrior Jennifer Chittick yesterday (24th May 2019).  Jenni had endured severe M.E. for a decade, was bedridden and reliant on her parents for care.  We don’t know the cause of death, but to lose your life aged just 31 is absolutely tragic and my heart goes out to her family and friends.

Just a day before she died Jenni had been the subject of an excellent article in the Daily Mail newspaper on the abuse and neglect faced by M.E. patients.   Her story echoed mine and her tragedy could so very easily have been mine.

I became severely affected by M.E. aged 26.  I lived alone and was told by my GP “we don’t have enough home care workers for people with cancer so you stand no chance” and I was just left to look after myself, despite the fact I once spent 4 months barely able to open my eyelids.  For 6 years I crawled to the loo on my hands and knees and never cleaned my teeth.  My Mum made a meal for me every day, after working full time, and my Dad drove across town with it in the car on a tray for me – it’s the only nutrition I had other than cereal and the odd smoothie.

At one stage I was so ill I simply couldn’t manage any longer at home alone.  My GP arranged for me to be admitted for respite care to the neurological rehab wing of my local hospital.  There were no doctors there and I was mostly looked after by physios – this was a ‘rehab’ ward after all!  I didn’t know then that I had Ehlers-Danlos syndrome, and I was told it was brilliant I was so flexible!  I had huge problems eating solid foods, not least due to oesophageal spasms (now known to be due to mast cell disease) and gastroparesis (now known to be due to hEDS), so the psychiatrist was sent for and she told me I had anorexia, despite the fact I was starving, wanted to eat but was just too ill to.  I had a seizure in the presence of a nurse one day and she didn’t touch me or send for a doctor …………I’m sure if I looked at my notes it would have some psychological explanation, even though I couldn’t move my entire right side for a whole day afterwards.  I was given no help with bathing, despite the fact it was one of the things I struggled the most with.   In the end, after 3 weeks of zero help and disbelief, and being looked after by a girl who used to bully me at school, I discharged myself and went back to living at home alone.  It was pure luck I survived the next decade, both physically and mentally.

My experience happened back in the late 1990s/early 2000s.  It makes me furious that the situation hasn’t improved in the intervening two decades.  Just because a cause hasn’t yet been found for the disease shouldn’t mean we are treated as subhuman or denied basic care and compassion.  The denial of M.E. as a physical disease, and the neglect and abuse of patients, will eventually be uncovered as one of the biggest scandals of modern times.

Still searching

In 2017 my Dad was walking 6 miles up a mountain every week with his best mate.  He got a bit stiff afterwards but other than that he was in great nick for a man of 77.

In August of 2017 he caught a mild cold.  He passed it to my Mum and by September she was paralysed.  The cold had triggered Guillain Barre Syndrome, an auto-immune disease.  Looking back, however, my Dad was also affected by the cold and started having some leg weakness after his walks, along with chronic fatigue and ever increasing stiffness.

In December 2017 he was concerned enough to see his GP, who did some routine blood work and found a small IgA kappa paraprotein.  Paraproteins can be a precursor to lymphoma, however in the early stages they are classed as MGUS (monoclonal gammopathy of undetermined significance) so he is now regularly monitored.

In January 2018 he first saw the spinal team who ordered an MRI scan of his spine.  They found a narrowing of his spinal cord called spinal stenosis and referred him to the surgeons at the RVI in Newcastle.

We waited 8 months for our first appointment at the RVI, during which time my Dad deteriorated.  In June he had to stop walking the fells with his friend, but could still potter to the local shops and back.  He also started having dizziness & nausea spells, about one every two months.

His GP referred him to the heart unit, who found he had bradycardia (a very slow heart beat) when he slept but apart from that all was fine with his ticker.

His dizziness & nausea episodes increased over the next few months, until he had actual vertigo with prolonged projectile vomiting about every 2-3 weeks.  His hands had also periodically started cramping and going spastic.  His walking ability also continued to decline and by the time we saw the actual Spinal Surgeon in November 2018 I had to take him to the appointment in a wheelchair as he couldn’t walk from the car park to the Clinic.

The Surgeon said the stenosis in his spine was mild and couldn’t possibly be causing the severe weakness in his legs so referred him for an upper MRI scan and some nerve conduction tests.  The MRI was fine but the nerve tests showed severe sensorimotor neuropathy in both legs.

The Surgeon strongly suspected CIDP (chronic inflammatory demylinating polyneuropathy), an inflammatory auto-immune disease which eats away at the myelin sheath around the nerves and can be caused by viruses (like the cold that led to my Mum’s GBS).  He cancelled my Dad’s surgery as he said the nerve issue needed to be sorted first.  However, he didn’t refer us to anyone so we were left floundering alone in the dark.

My Dad was getting worse by the week, so in December I took matters into my own hands.  I found a neurologist at the RVI who specialized in CIDP, pinched his email address from a paper he’d written, and emailed him directly – frowned upon here in the UK!  However, he was very kind and emailed me straight back.  To cut a long story short my Dad was referred to the rapid access neurology unit and seen by a Neurologist on Christmas Eve.

She ordered a lumbar puncture, which showed raised CSF protein.  However, the protein wasn’t indicative of CIDP, so now they had no clue what was causing his severe sensorimotor polyneuropathy.

The Neurologist ordered a CT scan, as raised CSF protein can indicate cancer.  My Dad had this done at the start of February and every 2 weeks since I’ve rung for the results, which have never been available.

It is now April, 7½ weeks since his scan and 18 months since he first started to have problems with his legs.  We are no further forward and were so pissed off with being passed from pillar to post on the NHS and having to waits months and months for every little thing we made an appointment to see a private neurologist next Tuesday.  However, yesterday I decided to have one more go at getting my Dad’s CT results (to take with us to the private appointment) and discovered they were back but hadn’t been seen by the Neurologist yet – fuck knows when that was going to happen.

However, yesterday afternoon the Neurologist’s secretary rang to say that the Neurologist had now seen the CT scan and all was fine.
“So when is our follow up appointment?” I ask.
Secretary:  “Were you expecting a follow up appointment?”
ME:  “Well, being as though 18 months ago my Dad could walk 6 miles up a mountain and is now in a wheelchair, we have no clue what’s wrong with him and he’s receiving no treatment, yes I do think we’d like a follow up appointment!”  FFS!
So she slotted us in today, being as though the Neurologist was about to go on annual leave.  If I hadn’t rung yesterday to chase his CT scan results for the fourth time we’d still have been none the wiser by May!

So today I’ve driven another 180 miles to see the Neurologist, who to be fair is very nice and very thorough.  Here’s where we are:

  • She has no idea how much his spinal stenosis is contributing to his symptoms.  Do we go ahead with surgery nor not?
  • She was concerned my Dad may have arthritis in his hips and/or knees which is contributing to his pain, so we had all of those xrayed while we were there.  No results yet.
  • She has no clue what is causing his severe neuropathy.  30% of people have idiopathic peripheral neuropathy, ie no cause is ever found, however they don’t tend to have quickly progressing PN like my Dad so she thinks there must be an underlying cause.
  • As he also has a dry mouth and dry eyes she’s wondering about Sjogren’s Syndrome (another auto-immune disease which can cause neuropathy), so is referring him to a Rheumatologist.
  • In the meantime, she’s getting a second 2nd opinion from the CIDP specialist, just to check again.  She’s going to ask if it’s worthwhile doing a nerve biopsy to check if inflammation is present once and for all.  If it is, it might still be CIDP (it fits his symptoms more than any other diagnosis). If it isn’t we’re up the shittiest creek in Shitsville without a proverbial paddle.

So it’s yet more waiting, and testing, and waiting for the results – if we don’t all lose the will to live in the meantime!

 

Another lump

It’s been over a week now since I saw my GP about my armpit lump and swelling.  As my doctor suspects something sinister I’m supposed to be being seen under the 2 week cancer rule, but so far I’ve not heard a word about my scan :-/

To rub salt into the wounds, the same day I saw my GP I took a friend through to the city to have a consultation about his bad back.  I heard today that he’s already been for an MRI scan, despite nothing sinister being suspected.  It’s fucking outrageous.

Today I discovered another lump.  I have no idea how I haven’t noticed it before because once you know it’s there it stands out a mile!  It’s inside my elbow (on the right as you look at the picture) and on the same arm as the armpit lumps:

Click on the picture to see a larger image

There are lymph nodes exactly where the swelling inside my elbow is, so there’s clearly some kind of lymph issue going on.  In addition, my armpit is now hurting when it hasn’t before, and my whole arm is feeling heavy and keeps going dead on me.

Until now I’ve just brushed the whole armpit lump thing off, but I have to admit having found this new lump and feeling sooooooo exhausted since Christmas (and actually, well before) I’m more worried now and just want the bloody scan so that I know what’s happening one way or the other.

It could be something

Neither of my paternal grandparents ever had cancer.  Neither of my maternal grandparents ever had cancer.  My biological Dad had stomach cancer, but not until he reached the ripe old age of 82 and his 85 year old sister is still alive and cancer free.  Two of my Mum’s siblings died of cancer, but they were heavy smokers and it was lung cancer, so it wasn’t exactly a shock.  My Mum smoked like a chimney for nearly 60 years but despite having a tumour on her lung it was benign.  Two of her siblings are still alive, both in their seventies, and have never had cancer.  So, to be honest, even though 1 in 2 of us will get cancer I’ve never really given it a second’s thought because it doesn’t look like it runs in my family and I have none of the lifestyle factors which increase my risk, such as drinking or smoking.

I thought a little bit more about the disease when my maternal cousin got breast cancer aged 60, though she isn’t classed as a close relative and I’ve tested negative for the BRCA gene and when I discovered that MCAS significantly increases the prevalence of certain cancers, including breast cancer, and having endometriosis is also associated with a risk of certain cancers, such as ovary, uterine or cervical.  But you never think it will actually happen to you, do you?

The reason I’m prattling on about the Big C is that I had my appointment with the GP today about my armpit lump.  I genuinely thought she’d take one look and say “everyone’s armpits are different and it’s nothing to worry about” but she didn’t.  She said there is most definitely a lump and it is not a cyst, nor swollen lymph nodes due to infection.  In addition, there is also swelling around a second lymph node and some puckering of the skin.  She said she couldn’t tell if the lump was an enlarged lymph node or a thickening of the tissue, but that neither should be occurring and it is possible it may be cancer related.  I waited for the “or it could be nothing” but it never came, and when she looked at me in sympathy and gently rubbed my back as she guided me out the door my brain screamed very loudly FUCK! and double FUCK!

There are two common types of cancer which could originate in this way: breast cancer, although I have no obvious signs of breast cancer, and lymphoma which I might possibly have signs of.  A persistent cough can be a symptom of lymphoma and, as you all know, I’ve been coughing for nearly 3 months.  Tummy pain and feeling full are also symptoms and I have been having both in spades, plus fatigue is common.

Soooo, I’ve been referred for an ultrasound and will get an appointment through within the next two weeks.  I’m not a big worrier and I’m sure it will turn out to be absolutely nothing, and even if it turns out to be absolutely something worrying won’t cure it, nor will stressing out or getting worked up.  I’ll just forget about it until I know for sure what’s happening.

The Holy Grail

I have had a big day.  BIG.  Huge.  If you’ve never seen the film ‘Pretty Woman’ you won’t get the reference, but trust me when I say today may have been a game changer.

The Holy Grail for anyone suffering from Histamine intolerance (HIT), and people with Mast Cell Disease who find it necessary to follow a low histamine diet, is the ability to test the food we eat for histamine.  The reason it’s so vital is that many factors affect histamine formation, the main ones being how old a food is and how it’s been stored.   A lab testing the histamine content of imported strawberries that have spent weeks travelling from Israel, for example, may come up with a very different result than if they’d tested strawberries taken straight off a bush in their garden.  And how do we know if a specific strain of British strawberries have the same histamine content as a specific strain of Spanish strawberries?  The answer is, we don’t.  Realistically the only way to test the amount of histamine in the food we eat is to actually test the food we eat, and my food here in the UK will be different to the food you might be eating in the States, Europe, Australia, Asia or anywhere else on the planet.

In October 2018 I wrote this post about researchers at City University of Hong Kong who were developing a way of testing for histamine using your mobile phone and a sensor.  Well, today I had the joy and privilege of meeting one of the researchers, Victor Lau, while he was on a short trip to the UK.  I have been excited all week waiting to meet Victor and was not disappointed.  He was absolutely lovely and has given me permission to talk about our meeting and the home histamine testing device.

Hong Kong practically lives on fish and seafood but food standards aren’t as good as they might be, so since 2016 the researchers have been working on a way to test for histamine in seafood for use in the commercial food industry.  The research is Government funded so not driven by profit.  Until I emailed them back in October they had never heard of Histamine Intolerance or Mast Cell Diseases and are now hugely interested in our plight.  Victor made a point of telling me that it’s not through any desire to make money out of us – they genuinely love the idea of helping patients and when the device becomes available to buy they will keep the cost as low as they possibly can.

I have to stress that the current device is a prototype and still being refined.   There’s a long way to go to reach a saleable product, not least because the results have to be rigorously accurate if you’re dealing with sick people and allergic reactions and then the device would need the relevant Governmental approval, however I’m assured that we’re only talking 3-4 months before a working prototype would be available for me to test 😮

The equipment needed for the current testing system is as follows:

  • An app for your phone.  They gave me the app and it was a doddle to install on my Android phone.
  • The testing device, which is about half the size of a mobile phone.
  • Some testing strips – these slot into the side of the testing device and you place your food sample on the strip.
  • Some food to test, preferably something which can be formed into a liquid when mixed with water.
  • Some distilled water.
  • Some weighing scales able to measure in individual grams.
  • A dropper.

Here’s a picture of today’s set-up:


This is how the testing currently works:

  • Place a sterile pot on the weighing scales.
  • Measure out 1gram of food into the pot.
  • Add the same amount of distilled water.
  • Mix together until you have a liquid thin enough to pass through a dropper.
  • Open the app on your phone – it gives you guided instructions as to how to conduct the test.
  • Using a dropper, place 2 drops of the food mixture onto the end of the testing strip (that’s the small orange-coloured strip sticking out of the right side of the device in the middle left of the picture).  Wait 2 minutes for this to be measured and registered.  Wipe off.
  • Add 2 drops of distilled water onto the testing strip to re-calibrate.
  • Repeat another 4 times, alternating food and water.
  • An average histamine content will be calculated from these 5 samples.
  • At least, I’m hoping I’ve got the technique correct – I’m no scientist and it was all new to me!  I’ll show the guys this post and they can correct me if I’ve got something wrong.

Victor about to weigh tea!

The process is a little time consuming, taking about 10 minutes per food item, but it’s really easy to do.  Currently it’s not something you’d be able to do in a restaurant, but I don’t care so long as I can test the food I eat at home!  Speaking of which, Victor asked me to take some food samples along to be tested.  They’d never tried the device on anything other than seafood, so were as excited to see the results as I was!  However, the device is currently only calibrated to test for histamine above 100ppm (parts per million), which is a safe level for healthy people but of course not for those of us who have to follow a low histamine diet – we need to be able to test for 20ppm at the very least and Roy Vellaisamy, Victor’s colleague in Hong Kong who I spoke to today on the phone, assures me this should be possible.  So bear in mind today we could only say if a food was below 100ppm or above 100ppm but not give a precise figure.

I miss tomatoes sooooooo much, so the first food tested was tinned, chopped tomatoes from Tesco.  They tested above 100ppm so there’s no way you could include them in a low histamine diet 😦  However, I’d also taken with me a fresh tomato and this tested below 100ppm!  We’ve no idea, though, how much below – it could be 10ppm or 99ppm so tomatoes are still not a food I’ll be eating until I know for sure how much histamine they contain.  Interestingly, Victor re-tested the fresh tomato a couple of hours after I left, which by this time had been out of the fridge and in a warm environment for several hours.  It now tested above 100ppm, which on the surface looks as if histamine had formed rapidly in the warm environment in which Victor was testing.  However, it may not be quite that cut and dried.  We only know it initially tested below 100ppm, but we don’t know by how much – it could actually have been 99ppm.  And in the second test, we only know it tested above 100ppm, but again we don’t know by how much – it could just be 101ppm.  Of course, on the other hand it could be that it tested as low as 30ppm on the initial test, but after being kept at room temperature for several hours it had reached histamine levels of 190ppm!  The ability to test precise levels of histamine in a food sample is something which would be vital to us if the device were to be useful to us as a patient population.

The next food I wanted to test was a good old British brew (well, actually, my tea was organic black Clipper tea from some far off land 😉 ).  I was gutted when this tested above 100ppm (and that’s without adding milk) but I have to be honest and say I still don’t think I can give my daily cuppa up.  Histamine is a bucket effect, and as long as my bucket is low from eating foods low in histamine the odd cup of tea shouldn’t fill the bucket too much and tip me over the edge and into a reaction.  That’s my excuse anyhow and I’m sticking to it 😉

By this time my train home was almost due, so I had to leave my other samples with Victor to test in my absence.  I’d taken some Quorn mince and some cocoa powder, so I’ll let you know the results when I have them.

Today has felt like a watershed day for those of us with HIT and/or MCAD.  I can’t stress enough how interested both Roy and Victor are in our situation, how generous and lovely they are being with me and how much they genuinely want to help.  It certainly makes a change from the usual way we rare disease patients are treated.  I told Victor that HIT seems to be much more recognized in Germany than here in the UK, and he luckily has a close colleague who lives in Germany whom he can find out more from.   For my part, I gave him Dr Seneviratne’s details being as though he’s the leading HIT & MCAD doctor in the UK and is so knowledgeable on all things histamine.

Victor stressed that they want to make a device which is useful to us, so if any of you have any questions please do comment below this post and I’ll forward them all.  I have every faith that, with a bit of tweaking, the device could be brilliant for us – the ability for you to be able to test the food you eat, and for me to be able to test the food I eat, would be awesome and something I didn’t even dream would be possible.  Not only that, but Victor thought it wouldn’t be too difficult to develop the device to test for things other than histamine – nuts, for example, or gluten!  All that would be needed is a separate testing strip whose receptors bind to gluten instead of histamine – the rest of the testing kit, ie the app and device, would remain the same.  Imagine the possibilities in our modern world where food allergies are rampant!

Watch this very exciting space 🙂

 

 

 

Dupuytrens Contracture

My Mum is one of 7 children so I have a large extended family.  I’m in contact with them all, yet out of my 17 cousins it appears I’m the only one with Ehlers-Danlos Syndrome.  I’ve clearly inherited hEDs from my Mum who, despite not being formally diagnosed, has all the symptoms though is much more mildly affected than me.  Not only that, but she also obviously has MCAD, though again less severely than I do.  However, we can find no other maternal family members with hEDS or MCAD so quite where the faulty genes originate is a mystery.

My Mum has her fair share of genetic diseases, every single one of which I’ve inherited.  Not only do we share hEDS and MCAD, we also share a Familial Essential Tremor (which appeared at the age of 50 in both of us) and Dupuytrens Contracture (which again started at the age of 50).  The menopause has a lot to answer for.

Dupuytrens (pronounced du-pwee-trens) is a collagen disease which affects the hands (and sometimes the feet).  Scar tissue forms in the palms and the connective tissue thickens and shrinks.  Dupuytrens affects 2 million people in the UK and famous sufferers include Ronald Reagan and Margaret Thatcher.  The disease hasn’t been linked to EDS specifically though to be fair no-one is researching connections with other diseases so we have no idea if it’s more common in people with pre-existing connective tissue disorders than the general population.  Dupuytrens usually starts between the ages of 40 and 60 and for a change is more common in men than women.

The disease starts with a little hard lump in the middle of the palm, usually in one hand only.  Mine feels like a large grain of rice under the skin and has begun in my left hand, as did my Mum’s.   Over time, the little lumps (nodules) start appearing in lines up to the fingers and eventually develop into string-like chords, often up to the pinky and ring finger (though in my Mum’s case her middle finger is also affected).  There’s an excellent image of dupuytrens progression here.

The scar tissue affects the ligaments which control movement of the fingers.  Eventually the affected tissue becomes so thick and short it pulls the affected finger(s) in towards the palm.  It seems incomprehensible that someone with hands as flexible as mine could end up not being able to put my palms flat on a table, wash my face or even wear a pair of gloves 😦

There is currently no way of stopping the progression of Dupuytrens Contracture.  There has been some research into using radiotherapy to slow down progression, but it’s not currently widely available.  You can also have Collagenase injections into the chords.  Collagenase is an enzyme that is produced by a bacteria called Clostridium histolyticum and the enzyme eats away at collagen causing its structure to weaken.  However it’s fairly likely that the disease will progress anyway and you may eventually need surgery, which involves cutting the chords to straighten the fingers.  There’s no way of knowing how well individuals will respond to surgery.  For some it works very well and they regain a good degree of functioning of the fingers, but in my Mum’s case it really didn’t have a huge impact and the disease returned within a year.  She’s now had 3 surgeries and still doesn’t have functioning hands.

Dupuytrens can affect one, or both, hands.  It can also develop on the soles of the feet and is called Ledderhose disease.  In men Dupuytrens can also affect the penis, called Peyronie’s disease.  Patients with Dupuytren’s sometimes also have localized firm areas beneath the skin on the finger joints. These lumps are referred to as “”knuckle pads” or “dorsal Dupuytren nodules” to distinguish them from simple callus or skin thickening over the joints.

Dupuytrens contracture is sometimes termed the Vikings Disease, on account of the fact that sufferers almost exclusively have Northern European lineage – my 23andme results show 16% Scandinavian DNA.  It is therefore an ancient disease dating back to the 700s AD and far beyond – the fact we still don’t have a way of stopping it, or even effectively treating it, amazes me.  However, there are currently various trials taking place across the globe into treatments for Dupuytrens – details can be found on the British Dupuytrens Society website.