Category Archives: Medical & treatments

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!

 

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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.

Neuropathic pain

Neuropathic pain is just a fancy word for pain which is coming from the nervous system.  It can also include altered sensation like burning, pins and needles, and sensitivity to touch or pressure.

When I was severely affected by M.E. my neuropathic pain was legion.  I had no idea there were so many types of pain and they tortured me every second of every day.  My legs burned like they were on fire – it was so bad I used to lie with wet towels wrapped round my thighs just to get 20 minutes of relief.  Luckily now I’m less severely affected this has improved and my muscles only burn if I’ve done too much.

I have had severe pins & needles in my hands and feet for nearly a quarter of a century.  It is constant and feels like I’m plugged in to the electric.  It was so bad when I was severely ill with M.E. that putting on shoes or walking was excruciating – it felt like the soles of my feet were full of crushed glass.  I also used to get pins and needles in my face, tongue and scalp.  Even now, as I lie in bed typing this, it feels like there’s a swarm of bees buzzing away under the skin in my feet.   It is not fun.

For about 4 years I was so sensitive to touch that I couldn’t bear anyone near me.  If someone inadvertently brushed my arm pain would shoot along my nerves and explode in my brain like a bomb.  Now I am less severely affected by M.E. this has improved but I still wince at sudden touch and having a gentle massage would bring both pleasure and discomfort.

Over two decades on I thought I’d had every type of neuropathic pain imaginable but I was wrong.  Three years ago I started getting sharp, stinging pain in my breasts.  It would come on suddenly for no reason and take my breath away.  I went to see my GP, who discovered my breasts were so lumpy from peri-menopausal hormones that a proper examination wasn’t possible, so sent me for an early mammogram.  Thankfully all was fine and having read menopause message boards online I discovered neuropathic pain is a ‘thing’ for some menopausal women.

The breast pain eventually went, to replaced by neuropathic pain in other parts of my cattle prod body.  My lower legs, ankles and feet have been particularly affected during the past year though I can get it just about anywhere.  I’m lying in bed minding my own business when suddenly it feels like I’ve been zapped by a cattle prod.  This can happen every couple of minutes and has, at times, seriously disrupted my sleep.  Not only that but I’m getting weird cramps in my calves and my toes keep going rigid.

I’ve been tested for peripheral neuropathy and, as far as I can remember, they concluded I didn’t have it.  If anything my nerves are hyper-responsive to stimuli not under-resonsive.  The only abnormality that ever shows up is massively brisk reflexes, which doctors don’t ever seem to be concerned about despite the fact that I get muscle twitching, cramps and jerking (as I type this my right big toe is rigid and pointing down to the sole of my foot and both large muscles in my thighs are in spasm).  I also get crawling sensations and huge goosebumps over the skin in my legs for absolutely no reason.

When I was severely affected by M.E. my gait (ie the way I walk) was obviously abnormal and I took very high loping steps.  How any doctor I saw could ever tell me I was fine and just needed to pull myself together still makes me livid – it just shows the power of suggestion (by psychiatrists that M.E. is a mental health issue) rather than impartially observing the clinical signs which could not have pointed towards neurological disease any harder if they’d tried.

Regular pain killers have zero effect on neuropathic pain.  The best drugs are anti-seizure meds such as Pregabalin and Gabapentin.  My Mum has had shingles twice, as well as severe post operative nerve pain, and swears by Pregabalin.  I also have friends with M.E. who couldn’t manage without it.  Of course, I’m so drug allergic there’s no way I’d tolerate something so potent.  Please, I beg you, don’t comment and ask if I’ve tried x, y or z drug, herb or treatment – it’s really insensitive to someone in my situation (I had an anxiety attack last night trying natural, organic yoghurt for the first time in 5 years :-/ ).  And, yes, I know all about magnesium – I take antacids every day and as a result my blood work shows a higher level of magnesium than should be there.

I just put up with all the weird nervy stuff and accept it as part and parcel of my myriad of diseases – I have no idea which part of the nerve stuff belongs to which illness, not that it matters.  I really hope the stinging pain bogs off when I’m through the menopause though cos I’m getting proper fed up of that :-/  I’m proper fed up of the menopause in general to be fair and just wish it would jog the hell along!

Pushy, who me?!

In the UK, with our over-stretched, under-staffed and under-resourced NHS, you have to fight for what you need.  Most people don’t.  They sit back thinking Doctors know best and wait for the wheels of the giant health-care system to slowly grind into motion and it could cost them their lives.

As a teenager I was told my back pain was psychosomatic.  At the age of 16 I demanded a second opinion at a specialist spinal hospital and was diagnosed with congenital spinal stenosis and told I needed urgent surgery.  But if I’d just taken the word of the “specialists” at my local hospital I would have ended up in a wheelchair for the rest of my life.  As it is I’ve lived with chronic pain due to their incompetence for 40 years.

In my thirties I was told my scans were all fine and there was no reason for my chronic pain.  I was obviously “just sensitive” and needed to stop being such a wuss.  If it weren’t for my own research and request to see a Rheumatologist versed in Ehlers-Danlos Syndrome I would never have been diagnosed with hEDS.

In my forties I was told by numerous doctors that it was impossible to react to all drugs and nearly all food.  I was just anxious and my ‘episodes’ were ‘panic attacks’.  Again, if it weren’t for my own research and request to see Dr Seneviratne I would never have been diagnosed with MCAD and my ‘panic attacks’, aka anaphylaxis, could have killed me.

7 yeas ago my Mum had half her lung removed due to a tumor.  She had the surgery in Newcastle, but was admitted to our local hospital a week after returning home as she was in agony and very unwell.  She was there for 2 weeks, they didn’t give a toss about her, and her treatment was so poor and she was so ill we thought she’d die.  In desperation I rang the surgeon who had performed her surgery in Newcastle, something you’re not supposed to do, and told him of my concerns.  Luckily he was visiting our local hospital that week and asked me if I’d like him to pop in and check on my Mum.  “Yes please!”  So he did, tactfully suggested to the doctors looking after her that a change in medication might be warranted, and 4 days later my Mum was well enough to come home.

You have to be your own advocate.  It is not easy, however.  The NHS, on the whole, does not like to be told what to do or to be faced with patients who know more than they do which is often the case when it comes to rare diseases.  Doctors can be hugely defensive when faced with a clearly well-informed patient and I have born the brunt of passive-aggressive sarcasm and outright hostility.  I don’t give a shit what they think of me – I’m the one living with my symptoms, not them.

Yesterday morning I had had enough of my Dad’s lack of treatment.  Knowing that Xmas was looming and fuck all was going to get done over the holidays I took a firm grip on his health care.  The local neurologist, after 4 days, had still not rung me back and I was not willing to “leave it with” my GP, as after 36 hours the neurologist hadn’t rung her back either.

From good old Mr Google I had discovered that one of the neurologists at Newcastle, Dr Miller, had a special interest in CIPD and protein neuropathies, so I found his email address on a conference programme and emailed him directly, something frowned upon here in Britain.  I didn’t expect him to mail me back, so in the meantime I again rang my GP to ask her what was happening.

The receptionist said that although the GP was still in the building she was just about to leave for the day (it was 1pm) and in any event she had nothing new to tell me as the neurologist still hadn’t rung her back.  So I said “if the neurologist isn’t going to ring either me or the GP back we need another plan of action then don’t we!” and asked could I leave a message for her to ring me first thing in the morning.  “No” was the reply, “you can only leave a message for a GP if they’re actually on the premises”.  “But she is on the bloody premises!” I shouted down the phone, but was firmly told to ring back in the morning.  I put the phone down on the receptionist before I started issuing her with death threats.

Within 5 minutes the GP called and said that actually the neurologist had rung her back and said that we don’t have the facilities here to treat my Dad and he needed to see the specialist at Newcastle.  Like I’d told her would be the case on Monday!  She said she’d contact the Surgeon and request he urgently refer my Dad to Dr Miller, which she did there and then.

However, when I put the phone down I saw that Dr Miller had emailed me back!  He was very nice, which was a shock as neurologists can often have arrogant egos the size of a small country as I know from bitter experience over the years, and said he’d be happy to see my Dad but didn’t have an appointment available until 17th Jan.  If it were urgent, though, my Dad could be seen in the emergency neuro clinic.

I had no clue how urgent my Dad’s illness is.  All I know is that with early treatment permanent disability from CIDP can be avoided and symptoms actually reversed, but as the illness has been missed for an entire year and my Dad has declined rapidly in the last 3 months maybe it’s too late for treatment now in any event?  Dr Miller asked for a timeline of my Dad’s symptom progression so I emailed that to him late last night.  By 9am this morning he’d already replied that my Dad needs to be seen urgently and he’d passed his details on to the rapid access neurology clinic.  Not half an hour later the rapid access clinic called and my Dad is being seen at 10am on Christmas Eve.  I feel such vindication that my Dad does need urgent help and I wasn’t just being overly dramatic.

If the GP finds out I’ve contacted Dr Miller behind her back she will probably be well pissed, but I don’t care.  If she isn’t going to keep me in the loop I can’t be blamed for exploring other avenues of help and in any event I’ve told her on 3 separate occasions this year that I think my Dad’s kappa paraprotein is involved and that his stenosis isn’t explaining his symptoms and she has dismissed my concerns.  Turns out I was right after all.

Make a fuss.  Chase things up.  Do your own research (with reputable NHS based services) because you have a shed load more time to get clued up than a harassed GP.  Be prepared to nudge doctors in the right direction, especially if your disease is one with which they aren’t familiar.  If it’s needed, put yourself at the top of someone’s work pile.  But be polite, even when you’re telling someone the situation isn’t good enough – doctors are just people, who have lives and worries and stresses of their own.  I seem to have found the knack of being assertive yet still deferential, and if warranted I always thank the doctor involved, often by a little card or if they’ve really gone out of their way to be helpful with a bottle of wine or a box of chocolates.  We all like to be appreciated.