I think I might be close to a diagnosis...

Hi Guys

Sorry I've been away for a while - life got in the way and I was all but convinced I am imagining how poorly I am.

Here's a list of all the investigations I've had:
Endoscopy - stomach inflamed
Stomach emptying test - normal
Calprotectin - raised 220
Sigmoidoscopy - normal
Bloods - normal
Colonoscopy & biopsies - normal
SEHcat scan - bile malabsorption found
2 hospital admissions (10 days, 4 days)
MRI - normal (some suboptimal distention of SB)
CT - normal
pill cam endoscopy (twice - first one failed) - normal
radio isotope study - normal

(the radio isotope study was interesting - they took blood, tagged the white blood cells and re-injected them and then scanned me for inflammation)

Tuesday this week I sat down with my gastro and was happy to accept he'd done everything he could to find inflammation and there just wasn't anything to find. I felt kind of flat, but relieved in a way. Not great because I knew when I finished these antibiotics for my ear infection that I'd become sicker again but figured it must be the bile malabsorption and the pain he suggested I went to a pain clinic for. It wasn't the neat answer I hoped for but hey.

Then yesterday I had another Sigmoidoscopy booked as my GP felt a lump and wanted it checking for his own piece of mind. Me and the nurses in endoscopy were on the fence if it was worth doing but we agreed since I'd taken time off work and I was there anyway and my dr did request it, best to just get it over with and it'd only take 10 minutes. The enema worked in less than 3 minutes (!) and I went 4 times and felt a bit bewildered. I was so confident it was a waste of time I sent my boss a text saying "bet you an office this is a waste of time" - unfortunately for him he didn't take my bet! The lady showed me nice healthy bowel with lots of red veins and then an area a bit higher up (where it hurt a lot) and said "see how the veins are all blurry and hard to make out? that's because of inflammation" and I looked at her, tears pricking my eyes and managed to croak/squeak "thank you" she said it looked like Crohns to her and she'd take biopsies to confirm. She said "don't thank me yet" but even with a normal biopsy, as baffling as that'd be, I have SEEN IT so I know I am not crazy anymore :yfaint:
I think I might practice my "I told you so" dance just in case. And if I get a chance to showcase it, I will be going to find the "Consultant" who said to me, on my 2nd hospital admission, unable to keep water in me "you must've eaten something funny"

Biopsy results in a few weeks so will try to not think too much :lol2: try...

What a huge relief that must be for you! Now hoping you can treat it quickly and easily

:confused2::confused2::confused2::confused2::confused2:my Gastro just emailed me to say the sigmoidoscopy was normal???!!!!

I honestly feel like this is beyond cruel now. He said:

The appearances are consistent with a normal colon. Of course we should wait for the biopsies. Rob

I can't believe for a second there I thought I had a stroke of luck! How niave!
:confused2::confused2::confused2::confused2::confused2:

Aw Little Bear, what a frustrating email to receive. Can you write him back and ask him why the nurse said she saw inflammation? Do you have the name of that nurse, can you get in touch with her and have her explain to your GI what she saw? I hope the biopsies find something definitive. How frustrating! I wish I could help more, but if it helps at all, I'm really frustrated on your behalf! Sending you a big hug. Keep us posted on what the biopsies reveal.

I left it with him as that's his way. I tried to ring her I left a message but she didn't call back (Friday evening!) I had told her previous that they'd found nothing no inflammation and when she showed me it I said how have you found that when nothing else has? She seemed pretty certain I just don't get it. It's cruel, to be honest. My GP has sent me to a psychiatrist this week because I'm struggling so much. Everyone here are so strong and amazing all of you. I don't know how you all manage I really don't. You're all angels sent to teach normal people what strength really is

So sorry you're having such a rough time, sadly I can't say anything to make you feel any better hang in there and don't be fobbed off, you know what you saw. Big hugs x

I think this is probably a instance where the significance of inflammation leaves a lot of room for interpretation. I had an endoscopy and straight afterward the doctor who'd just carried it out (along with a nurse and student) told me they'd found inflammation in my stomach an oesophagus. A couple of weeks later, the doctor who'd ordered the test said the inflammation was just a result of acid reflux and reflux of bile, which he seemed to view as of no consequence.

I wonder if something similar may have happened in your case. What looked like Crohn's to one doctor is viewed as a far less concerning type of inflammation to another, as apparently there are things that can cause inflammation that aren't medically relevant or don't cause symptoms. Are the biopsies back?

If your doctor is dismissive of these tests results, just move on, don't take it personally and remember that it doesn't reflect on the severity of your symptoms.

Thanks unxmas for your reply they're not back so I guess wait for those. after his reaction I am fairly convinced they'll be normal now. It's funny I ate some pepper first time in months and am now in absolute agony and with D and keeping me up all night. That's a bit extreme for food intolerance. Anyway, I guess wait. I can't imagine living like this without knowing whatis causing it I struggle to cope. Been training this morning squatting over body weight and then shooting off to the loo - managed by stopping sipping water(sets my gut off) but so dehydrated now I'm off to bed! As far as I'm
Concerned if he's telling me there's nothing wrong then I train regardless! :S

Little Bear said:

Thanks unxmas for your reply they're not back so I guess wait for those. after his reaction I am fairly convinced they'll be normal now. It's funny I ate some pepper first time in months and am now in absolute agony and with D and keeping me up all night. That's a bit extreme for food intolerance. Anyway, I guess wait. I can't imagine living like this without knowing whatis causing it I struggle to cope. Been training this morning squatting over body weight and then shooting off to the loo - managed by stopping sipping water(sets my gut off) but so dehydrated now I'm off to bed! As far as I'm
Concerned if he's telling me there's nothing wrong then I train regardless! :S

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I've read that diarrhoea at night time is a sign that there's something more wrong than Irritable Bowel Syndrome (I don't know if your doctors have suggested the Irritable Bowel Syndrome diagnosis to you, but it's basically the dismissive diagnosis they give to people when they can't find the cause of their digestive symptoms). Nighttime diarrhoea is a sign that doctors should be looking for something more concerning.

It took me a long time to get diagnosed, and I have more than one medical condition. But even with my diagnoses, I still have some symptoms that don't seem to be accounted for, and some doctors have continued to question whether the severity of my symptoms is matched by my test results. Basically my test results suggest that I should be a lot healthier than I feel, which for some reason makes some doctors angry and suspect that I'm just no good at dealing with being ill.

I have made peace with the idea of having some symptoms left undiagnosed. I'm a bit of a medical mystery, with one very rare disease, and it actually makes a lot of sense to me now: I used to look up illnesses online and wonder why I didn't seem to fit any of them. Now I've realised it's because I'm unprecedented and unique. I've found that with tests and reactions to meds too - I get side effects that correlate so well with certain meds that I know the meds are causing them, but read the info. leaflets that come with the meds, and the effect I'm experiencing isn't listed. And you know how people try to calm you when you're going for an embarrassing medical test, by telling you that doctors have seen it all before? I've had more than one occasion where the doctor has literally said that they've never seen that before.

It's not being undiagnosed that's the problem - it doctors' attitudes towards it. If you can find a good doctor who recognises your suffering despite your normal test results, a doctor who is prepared to try and help you and treat your symptoms regardless of your results, you might find going without diagnosis a lot easier.

Yes I completely agree! Sadly my gastro is only nice to me because I am paying him. I saw him on NHS and he dismissed me as IBS. Do you mind me asking what you've got? I have ehlers danlos and only got diagnosed because my sister did. She's much much sicker than me although we both think I have POTS. I'm not too concerned though with that I'm also deaf in 1 ear and have a slightly slow thyroid. Basically feel like I'm broken! When my D goes utterly nuts if I sip water I run to the loo. Day or night my body doesn't mind

Ps it's been quite normal for a few weeks now as I was on Cipro for an ear infection basically fixed my guts until it wears off. Apparently my gastro labels that a coincidence even though it's worked 3 times for me

Hi Little Bear,

Sorry you're having such a difficult time getting diagnosed.
I noticed that you're based in Bristol, same as me! If you're interested, I belong to an IBD support group in Bristol, we officially meet up quarterly but also get together inbetween if we can. The friends I've made through it have been amazing.

I'm sorry I don't have much advice. I was misdiagnosed with IBS for a long time, but that was due to my GP refusing to give me any tests and insisting that I had IBS. When I eventually got so bad that I ended up in A&E my Crohns's diagnosis was pretty certain, I had a clinical diagnosis which was confirmed with a colonoscopy. But anyway, just wanted to send my support. Hugs x

Hi Lucinda what a lovely reply I'm not sure I qualify for IBD groups since my gastro is adamant I don't have inflammation! Amazing we are both in Bristol I live in Downend

Oh nonsense, that doesn't matter, we're there for anyone who has bowel problems really. It's not a serious group, we meet at a pub by Temple Meads Station! It's more about knowing people in the area who understand. I'm in Bradley Stoke, so not far away!
If you're on Facebook I can add you to the group, it's a private one so you have to be invited, I'll send you a pm.

Ah I'm not on any social media I'd be interested if it fell on a time
I could make. I train 6 days of 7 so I'm generally useless for availability! :S

Sounds good, Little Bear! Giving hope to us all : )

Aw that's a lovely thought

The mystery of what's wrong with me has been solved: diffuse systemic scleroderma. Were all united in our over-keen immune systems
X

Hey Little Bear, I'm glad to hear you've gotten a diagnosis! I am not familiar with diffuse systemic scleroderma so I just googled - oh my, it sounds awful - I can see how it mimics Crohn's-like symptoms though with the digestive tract involvement. It sounds like it can potentially affect other organs too besides the digestive tract - do they know, have your other organs been affected? And what is the treatment for it?

May I also ask, would you mind sharing a little bit about how you got diagnosed with it? Maybe another undiagnosed person who reads your story could be helped by it. Thanks.

Hi Cat

to answer your questions: I don't know, yet. I've got an appointment with him again he's sending through & he wants to check my bloods again. I am only 1 year in to this disease going by symptoms so I really hope there isn't organ involvement as that would mean my life expectancy would be around 5 years maximum! I do know the progression in the first 5 years is really important and that's why my Dr wants me to consider immunosuppressants (called Mycophenolate). There's no cure for the disease and there's no treatment that can change the course of the disease. Treatments are pretty much attempting to protect organs and delay damage to them, as well as managing symptoms.It was extremely difficult to read about the survival rates etc and talk to my family but I am out the other side of that now (took 2 weeks to talk to 5 people! was like re-living it every time).

SSd is a very rare autoimmune disease where the immune system causes excess production of collagen (scleros = thicken derma = skin). There's 2 types: one sticks to the hands and feet and the other much less common one (100,000 US cases) is systemic, meaning all organs can be affected. There's a big gastro-link here as the whole gut comprises of collagen (gut wall).

My diagnosis went like this: a couple of years ago I went to a Rheumatologist because my hands were soooo cold all the time even in summer. I knew it was Raynauds but wondered if they could treat me as it seemed worse than it had been. He agreed it was Raynauds and also as a bonus (!) diagnosed me with Type III Ehlers-Danlos Sydrome; a genetic fault in your DNA which causes you to produce collagen which is stretchy and useless (sort of the opposite of scleroderma!). The next time I saw him we put me onto a drug called Hydroxychloroquine as I had had some tests and they looked closely at the vessels in my finger tips and they were all scribbly - I thought this was down to my EDS as I had a family member with the vascular type who died in infancy. Fast forward a year and this winter, although much, much milder, my hands were awful: they swelled until they felt like they would burst and I had to keep my rings off for weeks. I could barely bend my fingers. After that I'd get red welts that were sore like nettle rash to touch and hard bumps like new knuckles on the sides of my fingers. All very painful and embarrassing (try shaking someone's hands when yours are cold like a dead persons and look like that). I am sat at work with a heater on me now typing in gloves! I sent my dr photos of my hands and explaining how much worse they were ahead of my annual appointment this year as I didn't want them to have gone down and he not see (the swelling etc is cyclical I find - flares). He saw me and suggested the immunosuppressant and explained he believed I have systemic scleroderma but that it was at a mild stage and he would monitor my blood for elevated markers (I do have higher than normal ANAs but not high enough yet to diagnose). He is monitoring my blood pressure as in the first 5 years 15% of SSd patients have a sudden spike in blood pressure causing damage to the kidneys; up until recently, this was one of the main causes for the high fatality rate.

90% of people with SSd have Raynauds but Raynauds is only secondary to an autoimmune disease like SSd in 5% of cases, so please don't equate Raynauds, which is massively common, with something quite unlikely. Having said that, if your hands are swelling up and you find your skin thickening - get to your Dr. I didn't realise that the extreme dryness and thickening of my skin (which made it feel like my hand was dying as it was all numb through thickness) was relevant because I train 6 times a week with chalk on my hands and they have callouses and tears from lifting, so they're in no pretty state anyway!

I guess I'll find out in due course if I have organ involvement yet (I inevitably will one day). One thing I did read was the damage to organs in SSd has to be pretty bad before symptoms are felt, which is why they run frequent heart and lung tests, because they need to catch it much sooner than you'd ever realise there was damage being done. Remember the hands are the key and earliest indicator of this disease.

As with all autoimmune diseases, the biggest nightmare is inflammation and so I have doubled my Omega 3 intake (soon to be trebled; easing my gut in) and have completely and entirely cut all sources of processed sugar and severely limited fructose. I am taking Symprove probiotic as this is the only one my gastro said had any reasonable supportive studies of (his opinion not mine!) and I am trying to protect myself as much as possible. Ultimately I am at the hands (pun unintended happy accident) of this disease now, but absolutely nothing has changed from my point of view; I am still happy and training hard for championships. Actually 1 thing has changed; I bought myself a medical bracelet just in case!
I hope this helps anyone reading this xx

Wow, Little Bear, I just want to reach through the computer and give you a hug! The organ damage and life expectancy stuff sounds so scary, I'm so sorry that you've been given such a serious diagnosis. But it's good that you're being proactive with the dietary changes and getting regular tests to check on your organs. And I'm proud of you for continuing to train, too - personally, the gym is my "happy place" where I can go and feel like a healthy girl rather than a sick girl for an hour or two, so it makes me happy that you can continue going to the gym as well.

Given that your illness is so rare, are you able to get into any type of clinical trials? I know that for some autoimmune illnesses, stem cell transplants are undergoing clinical trials and the results seem very promising, so maybe something like that would be available for you. I'm not sure what kind of clinical trials are going on in the UK, but I know they're doing the stem cell trials in the US, I believe in Chicago. Just a thought for you, something to ask your doctor about perhaps.

It's funny you should say that Cat, have a look at this news story from 5 days ago:
http://www.medicalnewstoday.com/articles/275144.php

I have a talent with weightlifting and so far it has saved me from EDS and I know it'll save me from this too if I fight got my team around me :ghug:

this forum has been nothing but support and caring in a confusing, frustrating, frightening and annoying time - I want to thank every one of us in this group for being supportive to strangers and banding together in our journeys (that sounds so cultish!)
xxxx

I'm hoping all worked out for you with this!

I remember the excitement of getting a diagnosis after years of maybes and normal test results. You must be relieved to know that after a very long wait there is something to explain your symptoms.

Prior to my diagnosis of Crohn's they gave me idiopathic pain syndrome. Basically they couldn't explain anything so they wanted to give me a crappy title that just says yea she suffers but we can't find a source. For awhile too I felt like the doctors were secretly insulting me giving me a title idiopathic---derived from the word idiot. Course I know now that I highly doubt they would. It was a long 7 years of horrible doctors experiences.