Desperate for a proper diagnosis

[CrepuscularDesperandum]

This is a really long shot but I'm hoping that someone medical might be online and can suggest what I can suggest to my GP. I've had no luck across the last 3 years in getting a diagnosis for an episodic illness that has just recurred for the third time, after 10 months of complete and utter health.

Here are the symptoms - all of which occurred almost overnight, 4 days ago and are now unremitting, after me feeling completely fine and healthy for almost a year:

Acute, severe, very localised left lower abdominal pain sort of behind the left hip.
Crippling pain at the top and the base of my spine that makes it almost unbearable to sit upright - the kind of pain you get at the height of real flu - but no other flu symptoms.
Pain in my arms/bones/joints, as if I need 'oiling' like a rusty machine.
Intense nausea/loss of appetite (I normally have a very, very hearty appetite)
Very, very bitter taste in mouth.
Mouth sores/ulcers (I never usually get these)
Headache all night (I'm never prone to headaches)
Shivers - on and off
General feeling of being deathly ill much worse than any real flu etc.
Rapid weight loss - 4lbs in 4 days, after not being able to shift any weight for ages when trying (not trying now and scared about current weight loss)
Some increased 'urgency' in going for a poo but no real diarrhoea

I think those are the main symptoms. This is the third time I've had exactly these symptoms in the last 3 years and each time, an 'episode' has lasted for 5 months! After about 5 months, I've gradually recovered and returned to total health, feeling strong, energetic etc. Nothing has changed in my life recently and I'm generally very happy, not particularly stressed and never had any mental illness.

The first episode happened after a really nasty bout of proper flu when I'd taken ibuprofen across about 2 weeks to manage the symptoms and I'd thought I'd fucked up my digestive system because of this. I had all the usual blood tests, colonoscopy/gastroscopy/rectal sigmoidoscopy and the only result of any note was a very raised faceal calprotectin test.

My consultant concluded it was 'just IBS'. No treatment. I gradually got better but had 5 months of a completely compromised life.

After about 15 months, I had exactly the same symptoms again but this time, the context was me feeling extra well, just started exercising/running, had expanded my diet from Low Fodmap to more normal eating for months, with no problems. Once again, I suddenly had 5 months of totally ill health, barely able to walk and work let alone exercise. Gradually got better.

This episode is in another context of total health and well-being. The only thing I'd noticed in the last few weeks was sudden inexplicable periods of fatigue but these were only brief.

I'm 55 and almost menopausal (last period was July last year). I've had a really easy menopause with barely a hot flush. Last time, my GP had suggested it was 'possibly hormones affecting digestive system'. However, I've had a normal digestive system for over 10 months and been eating a full range of foods with no problems. Overnight, I'm suddenly catastrophically ill again and have no idea why.

I now think the digestive issues may be a red herring and that there's something more 'systemic' going on - but what?

I know it's not life threatening. I'm feeling so well and healthy between episodes. Is it hormonal? I had a uterine scan last time and there was nothing of note. Blood tests indicated perimenopause but nothing to explain the symptoms I've got. Consultant is convinced my digestive system and colon are all fine - but why then the excruciating very localised, lower left abdominal pain - like a hot spear in my side?

I've not got the classic IBS symptoms.

I think the most scary symptom is the intense pain in my spine and the general feeling of being more unwell than I've ever been through a 'normal' virus. Yet it's not ME/CFS as I'm utterly well and healthy for months and months between bouts.

I'd give anything to get a diagnosis, even if there's no cure. I feel stupid going back to my GP as he did the whole range of tests twice, across the last 2 years and I normally never go to my GP at all.

Could it be that certain tests were done at the 'wrong time' when I was already getting better and so nothing came up? But if so, how then do you ever ensure tests are done at the height of this illness, as there's always a wait, whether NHS or privately?

So I'm turning to the collective wisdom of MN, especially anyone with a medical background. I'm sensible enough not to rely on anyone's 'diagnosis' of course and will return to my GP in due course but I'm absolutely certain this isn't 'just IBS'.

The qualitative difference between how I normally am and how I am when I have an 'episode' is so so pronounced that I know it's something definable and significantly adverse. But what?

I really can't face another 5 months of waiting to get better, with no treatment, no pain relief, no diagnosis. If I knew what it was and how I could prevent or control it, that would really help.

Any autoimmune illness in the family? It sounds a bit like Addisons's disease which is autoimmune and related to hypothyroidism, type 1 diabetes and coeliac disease - I'm not medical but these things run in our family.

Have you been screened for Coealic Disease? If undiagnosed it attacks the gut and then over time the brain, brain being centre of both direct effects (headache, vertigo et al) as well as being essentially a 'signal director' - ie including pain sensation even in absence of identifiable causation of pain.

Google Dr Hadjivassiliou for more info - Coeliac is hugely under diagnosed and also very misunderstood by most Primary Care Doctors who still work off simple 'classic' symptoms (digestive) even though said classic symptoms are not present in all or even the majority of Coeliacs - hence rate of CD is 1:100 people but only 1 in 8 diagnosed. IE out of every 800 people only one coreectlly DX'd and another 7 not, potentially with more serious health implications long term. If not screened yet (is a simple blood marker) I'd simply insist upon it if only to exclude. HTH.

Whilst CD does have a familial link for some people, for most there is not a family history of it although you could have family members who have had it and were asymptomatic** so simply didn't know.

Asymptomatic does not mean they had no symptoms, could well have had gneralised malaise or other unspecified but broad symptoms which they or GP failed to DX correctly. Neither does it mean they were safe to continue ingesting gluten (a 1000 reasons why, google CD as no time to write more here).

Thanks for the suggestions so far. Epicluster, I don't have many of the Addison's symptoms like the discoloured skin patches I read about on the internet. Ankylosing spondylitis runs in the family but I had a blood test for the genetic marker and it came back negative.

NotMyName, I was also tested by a blood test for coeliac's disease 2 years ago and it also came back negative. Nevertheless, I stopped eating bread and pasta and virtually anything with gluten in it and I've then eaten more or less exactly the same foods across the last 10 months, perhaps only adding in a few not on the Low Fodmap list as I felt so well. None of these made me feel ill at all (maybe a bit more wind but nothing else!).

Does anyone know whether you can get low grade, recurrent Crohns disease without obvious signs through CT scans and colonoscopy or diverticulitis, also without visible signs on examination? My symptoms fit diverticulitis particularly, I think but no diverticuli were ever seen.

What about something else other than Addison's, to do with adrenal glands, cortisol etc? Is there any obscure disease related to these that tends to start around menopause that might have my symptoms? My thyroid was tested last year or the year before and they said it was fine however.

What about a recurrent bowel infection? Anyone know of anything a bit obscure that can recur and then affect you systemically but not show the usual markers? I'm clutching at straws here but really really keen to find an answer and I also want to think of the right questions to ask my GP and how to put things, so he doesn't fob me off with 'IBS' again.

Some of what you say rings very true with my (extensive!) experience of diverticulitis: that severe and very specific abdo pain, fluey aches and pains, splitting headache, loss of appetite, chills, change in bowel habit, feeling absolutely horrendous. Also dramatic and uncharacteristic weight loss (despite lots of online sources saying diverticular disease doesn’t cause weight loss).

However it sounds as though you have had the investigations which should have shown up any diverticulae and none were seen. How long is it since you had the sigmoidoscopy? Has the GP examined you when the abdo pain was at its worst?

Have you had any blood tests to cover kidney function? It's totally anecdotal but a friend had similar for a few months and turned out to have a kidney infection with no usual symptoms but the function was impaired.

She was right as rain after some strong meds but some time was lost thinking it was IBS.

How about inflammatory bowel disease?
You did have a raised Calprotectin - get than followed up.

IBD sufferers can have joint pains and systemic malaise also.

Get repeat bloods done including autoimmune markers, repeat calprotectin and referral back to gastroenterology.

You need a decent luminal gastroenterologist, what's your consultants specialty?

The coeliac blood test is not definitive- you need a camera for that.

Also, some coeliacs can be ill for months after exposure, so it could be that.

Have you researched microscopic colitis? It’s auto immune, causes similar symptoms to yours and can be intermittent or chronic. It is diagnosed by biopsy at colonoscopy. It is related to ulcerative colitis but without the ulcers, the inflammation occurs in the lining of the gut so nothing can be seen at colonoscopy, only biopsy of the gut will give a definitive diagnosis. Some drugs are thought to be a trigger, one is ibuprofen. Also, read Clever Guts by Michael Moseley and Grain Brain, sorry can’t remember the author!

Many thanks for all these suggestions.

Lark - I had a sigmoidoscopy last done about a year ago. No diverticulae were seen and at that point, the consultant concluded it was a functional bowel disorder. He'd also previously done a gastroscopy and colonoscopy a year before that and I'd also had an abdominal CT scan and everything apparently came up clear. The only thing I'd say is that by the time all tests were done, the symptoms weren't at their worst. I also found the consultant patronising and making assumptions/drawing conclusions and not at all interested to hear the other symptoms like spinal pain/mouth ulcers/flu like feeling.

SpringNow - I've not had any kidney function tests done but I've also not noticed any change in bladder functioning so not sure that's the answer.

Perfectlydone - IBD was one of the things I thought I might well have as I do have the symptoms. However, my consultant said that raised faecal calprotectin, without other signs, on investigation of inflammation, didn't mean anything. I've had lots of blood tests done and none has come back showing signs of inflammation.

Greeper - what's a 'luminal' gastroenterologist? I'm not sure what my consultant's speciality is but I don't think there's much point seeing him again as he's done all the usual tests and ruled out anything other than IBS.

Pickleme - I've been eating, in small quantities, gluten, on and off across the months - in the form of small portions of pasta and probably in various chocolate etc and not had any problem at all. So I don't think my body rejects gluten. Would coeliac's have shown up on the various gastro/colonoscopies I've had done? Nothing was seen.

Robin - I've considered microscopic colitis as I agree my symptoms are like this but I did have biopsies done and none came up significant. Is it possible that it depends on where the biopsies were taken from and that something might have been missed?

I do have some doubts about the colonoscopy I had done, as the consultant said, at the time, that he couldn't see properly as my bowel had faeces in it. The powders you take beforehand hadn't fully flushed me out apparently. Later, however, he said that he'd been able to see enough. I didn't have sedation for any of the procedures as I wanted to be fully aware at the time. So I remember it very well.

He was very rushed and brisk and dismissive the whole time really.

A year or so later when I was referred back to him and he did a flexible sigmoidoscopy, I was in a kind of 'conveyor belt' of several patients being done one after another (this was in his private clinic). Again I had no sedation, unlike his other patients. I remember he blew air into my bowel and asked if the pain felt like this and I clearly and emphatically said no, it's nothing like that. The pain I get is like a red hot poker there in one specific area. He dismissed this and decided it was IBS related blocked wind or something crazy like that.

In my final, 2 minute meeting with him, straight after the sigmoidoscopy, he said nothing had been seen. I said, but what about all the other symptoms (meaning the generic flu like feelings, the spinal pain, the sore painful nodes on my spine, the generally desperately ill feeling, so so different from how I normally am. He replied, "What other symptoms?" and then quickly left. His one sentence follow up letter to my GP said 'functional bowel disorder' and it was really clear to me that he wasn't going to investigate further and had dismissed into that category.

My worry is that if I go back to my GP, he'll say that I've had all the tests and nothing has come up and so will think it's just IBS. I don't know how to get him to see that this is qualitatively so so different from when I'm healthy and well, and nothing like what I've heard about IBS symptoms.

On the other hand, if I were a doctor and all those tests had been done already and yet the patient still complained of another recurrence, maybe I too would query why the patient was coming back again.

So I need to know how to explain to my GP so that he'll really take on board what I'm saying and also if there's a different gastro consultant I can see. I've not even had time yet to make a GP appointment and feel so ill that getting to the GP feels difficult anyway.

OP "SpringNow - I've not had any kidney function tests done but I've also not noticed any change in bladder functioning so not sure that's the answer."

my friend didn't have any changes in that either, hence the blind alley of looking at IBS symptoms went on for so long. It was the weight loss that pushed the doctor to add in a blood test for that - worth a go I reckon.

Have you been investigated for autoimmune disease generally so ANA, ESR, rheumatoid factor bloods? There are a huge variety of conditions that broadly fall into the arthritis category of diseases that can give you a wide variety of symptoms including many that you have.

SpringNow - thanks for that info. I will pursue this with my GP then and see if they'll do a kidney function test.
Lonecat - I did have the blood test for ankylosing spondylitis, as this runs in the family but it came back negative.

Well I've now, after spending ages trying to get through, booked a GP appointment - earliest time was end of next week. Unfortunately, the GP I knew there for 25 yrs has apparently retired and so I'll see someone I've only ever seen once, about 16 years ago - who has a terrible reputation for being rude to patients. That's not going to help as I effectively need to get her onside with looking at things from a fresh angle.

If I knew what kind of problem it was, I'd then push for a referral to the relevant type of consultant. But I'm not sure it's gastro related, given all the tests I had related to that came back negative.

I've now started to get diarrhoea really badly and feel quite faint and just generally crap really. It's so hard trying to keep up a normal life when you feel so dreadfully ill.

What I really don't understand is that my set of symptoms are very very clear and specific and have now recurred three times in 3 years on a background of otherwise really good health. Surely that flags up something obvious and specific to an experienced medic?

Have you considered Ehlers Danlos Syndrome?

Ok I don't have the gene for AS bit I have all of the symptoms.also look at psoriatic arthritis etc. You Need to see a rheumatologist honestly

You have to go back to your GP.

Medicine is often a bit of detective work and ruling out lots of conditions until you arrive at the one that it IS, rather than the one it is NOT.

There's nothing 'obvious' and specific about what you are describing and nobody here can actually diagnose you, sorry.

Do you take meds of any sort? Could your gut symptoms be caused by painkillers or anti inflammatories but the actual illness is something like psoriatic arthritis? Sounds rheumatoid/autoimmune like to me or a food allergy maybe.

Hi OP, I have sent you a PM

Perfectly I get what you are saying but I disagree about Mumsnetters not being able to diagnose what the problem is . A nugget of information from here might be all the OP needs to get the GP to order a test that might reveal what the problem is. I think the OP is right to try and do everything she can to get her health back. The GP can only do so much. Too many people abdicate responsibility for their health away from themselves.
Rare and unusual conditions are often only picked up after the sufferer has repeatedly asked for referrals test, more tests and yet more tests. If another Mumsnetter recognises the set of symptoms it would be a shortcut to getting a diagnosis if the OP knows what to ask the GP to ask for tests for.

Behcet syndrome???

You say your symptoms have appeared three times in three years. Does it appear at the same time of year? Could it be something you come up against only once a year? Christmas cake? A pollen of some type? Some other annual allergen?

I know of a dog that had a skin condition flare up (presumably) due to a pollen in the owners garden. One year it was in kennels for the period it normally flared for due to a bereavement abroad for the owner and it didn't flare. The dog was re-homed as a result of the bereavement and it's skin was perfect from then on.

Perfectly I get what you are saying but I disagree about Mumsnetters not being able to diagnose what the problem is . A nugget of information from here might be all the OP needs to get the GP to order a test that might reveal what the problem is.

Of course personal experiences can help, but a diagnosis by people with or without qualifications with no access to the person in question, no way to examine them, no way to see investigation results etc etc is impossible and suggesting otherwise is dangerous.

The beauty of MN is that it pool so many different experiences and bits of wisdom and knowledge and of course the OP should use these suggestion to take her RL quest for a diagnosis forward.

Autoimmune disease are notoriously difficult to diagnose and often take many years, repeated presentation and many different tests and investigation to arrive at a diagnosis that stands up to scrutiny and passes the test of time.

I really appreciate all these suggestions and of course will see my own GP in any case. I've just found out that the one I've known for over 25 years has retired and gone. Another I met once is now on maternity leave, leaving 2 others - one I don't know and the other I saw about 16 years ago and she was so so rude and has a terrible reputation at the surgery.

Anyway, that's the one I'll have to see as she's the only one with a free appointment withing the next 3 weeks. So I've booked a double appointment late next week. I'm already dreading it as I expect she'll just dismiss me, once she's glanced through my past notes (with which she won't be at all familiar) that concludes I have IBS.

However, I will try to get her to see that my symptoms seem different to OBS, particularly the horrendous soreness along my spine that is constant, especially in the middle of the night and the headache int he middle of the night, all night. The left side pain is constant but not as red hot bad as the first few days. I feel like I have the worst ever flu and am utterly exhausted.

I also have - same as last two episodes - some small strange spots on my tummy like fluid filled really itchy ones. I wondered during the last episode whether might have shingles but then assumed it might just be insect bites. Now I'm not so sure. Maybe whatever's going on, my whole system is reacting and these spots are incidental and maybe the mouth ulcers are too.

Ernies - the only meds I took were before the first episode, to get me through the flu so I could get back to work. I took ibuprofen then and had believed I might therefore have fucked up my guts with them but as the consultant found nothing of note, I had to conclude that couldn't be the case.

Since then I've taken nothing except a couple of paracetomol today and again a couple during the last episode but I usually avoid all meds and have never taken anything across my lifespan other than those over the counter meds.

The first episode followed flu in March 2015 but the second was at the end of November 2016. So there doesn't seem to be a seasonal pattern. The second and third episodes have occurred after me feeling particularly well and healthy and having expanded my diet - with no problems, to include more veg and since Feb, I dared to try one coffee a day too. For weeks I've been fine on this expanded diet. So I can't see how it's diet related.

If it's undiagnosed diverticulitis, it could be because I was eating sweet corn and a seed got stuck in a diverticulus? Just speculating thought and that doesn't explain the spinal soreness and the ulcers.

I've looked up Behcets syndrome but i don't have acne like spots nor sore joints. The pain is spinal and down the backs of my arms. I do have headaches at night and I did have a recent burst blood vessel in my eye (self diagnosed) and have sore, dry eyes, as I wear contact lenses and am at that age when you just 'dry up'. But my symptoms don't seem to fit Behcets totally.

If autoimmune diseases are had to diagnose, what would be the next step to investigating this? I had the blood test for ankylosing spondylitis and it was negative. Are there others?

What i also really want to know is why I feel so completely fine, strong and healthy for protracted periods between episodes? Over the last 10 months, I felt so so well that I allowed myself to believe I'd never get this illness again and became somewhat complacent.

It's horrible being so so ill again and I need to hide it from one of my DCs, as they can't cope at all when i'm ill and totally freak out - thus adding to the difficulties. So I'm going around trying to act normal whilst feeling like shit.

Any tips for getting the notoriously difficult GP - who barely knows me at all and knows nothing about my case - to be of use when i see her next week?

Sounds awful OP and I think you are doing the right thing trying to trawl for clues.

Ulcers say autoimmune to me and if you have a family history I’d say you start there (again).

My mother has a very rare autoimmune condition and often it’s just detective work to find out which one it is. She has a form of vasculitis which doesn’t quite fit with some of the slightly more known diseases. It’s slightly Behcets slightly Churg Strauss. Her consultant said it’s probably MrsBackingvocalsmum disease. That’s not to say it can’t be treated but that some of these conditions are so specific and so nuanced that it’s hard to find a pool of other people affected in just the same way as you.

I’m also being investigated for an autoimmune condition and it’s been very frustrating. I’m six months in to the investigations and still no nearer to a named condition although my immunologist can see what’s not working properly from my bloods. So at least I feel there’s finally proof that I’m not making it up.

I would go back to the GP and ask to see an immunologist and or a rheumatologist.

Also I think autoimmune means no gluten. I am not coeliac but since I gave up gluten my swollen sore fingers are completely cured. That might be hokum but I’d at least do that while you wait.