Still looking for answers and a diagnosis after 3 years - losing heart. Any ideas ?

[Cherylclaire]

Foolishly perhaps, I had pinned all my hopes on 2nd visit to Gastroenterologist yesterday. Not sure where to go or what to do now :

I do NOT have Coeliac disease - although I cannot find another reason for flattened mucosa in duodenum found during gastroscopy, blood tests have ruled it out now.

All blood tests done were "normal" and I don't have any absorption problem.

Levels of B12, folate, ferritin, vitamin D were all "normal": unsurprising to me, since I self-inject B12 every other day, and supplement folate and ferritin (etc) daily, because of recurring deficiencies despite a diet chockablock with all of these. Vitamin D and Risedronate I take as prescribed because of osteoporosis.

She has decided that I have IBS - due to Lactulose Breath Test result of either SIBO or "fast transit" (IBS) - and does not think it is SIBO. SIBO was first suggested by Haematologist as the reason for my raised MMA levels because she had decided it was not B12 related. Not sure if IBS alone would raise MMA ...... ?

She could not explain why I often wake up around 5.30 am with a mouthful of watery red liquid that burns my throat (reflux ? blood ? both ?) and wakes me up with a pounding heart.

She said IBS would explain my daily diarrhoea and groin pain/ pressure but admitted that could not explain any of my other symptoms, which were not gastroenterology related. She suggested a dietitian and FODMAP diet (already done and made no difference), then a neurologist (already done and nothing unusual found in nerves or brain), then back to my GP (who has already told me that this has gone beyond primary care) and then suggested a psychiatrist.

This, to me, indicates the end of the line.

I asked if a psychiatrist could do anything about my hair loss, my bleeding gums, my sore and bleeding mouth.

She said she thought I should go back to work, that it would do me good. I told her that I was only working every Friday and that meant spending the whole weekend recovering. At Christmas, my arms were shaking just decorating the tree and I had to do this in stages- I am a master carpenter .. maybe I should be saying "was" ?

She did suggest (don't they all?) stopping the B12 to see what happens, but I told her it had taken me a long time to get to a stage where I was employable in any position because of my cognitive problems etc. so she said that I should stay on the B12 (although you know that won't be in the report).

She capitulated about the SIBO and has prescribed antibiotics. That might help.

I asked her about Hashimoto's and she arranged a blood test for TSH, common auto-antibodies and cytoplasmic Abs panel. This is not exactly what Marz has suggested to me in the past, but by then I was in tears and just wanted to leave.

She had not read the letter that the Metabolics consultant sent her, although it would not have helped me because he was dumping me back on her anyway- with suggestion regarding poor protein uptake.

She apologised.

As you can imagine, by now I am getting rather downhearted. Getting better is a long slow process and not without setbacks.

Sorry this post is so long, but I've tried hard and really can't do this alone.

[Sleepybunny]

Hi,

Sorry to read you are feeling down hearted. I used to get excited every time I saw a new specialist, thinking this time they'll find answers and usually I would leave feeling deflated or even worse... angry or tearful.

"Getting better is a long slow process and not without setbacks.

I agree.

I can truly say I got far further finding out what was wrong with me by my own efforts than relying on NHS doctors. I was desperate for someone (preferably a doctor) to take over trying to find out what was wrong as I was exhausted mentally and physically and felt terribly let down by the health system. One GP was shocked that the person behind trying to find out what was wrong with me, was me. I wish I'd had the courage to say that if you won't, I will.

In the end I learnt a very difficult life lesson...that sometimes the only person who was going to help me was myself. I should add that I had some very welcome help from PAS forum.

"I do NOT have Coeliac disease - although I cannot find another reason for flattened mucosa in duodenum found during gastroscopy, blood tests have ruled it out now."

Which blood tests did you have for Coeliac disease?

coeliac.org.uk/coeliac-dise...

If you've only had tTG IgA (tissue transglutaminase IgA) test then I don't think Coeliac disease can be totally ruled out.

In UK, a second test called Total IgA is recommended. Total IgA test can show which patients have IgA deficiency. Have you had Total IgA test?

A person with IgA deficiency with Coeliac disease will have a negative result on tTG IgA test because their bodies do not produce the antibodies that tTG IgA test checks for.

People with suspected Coeliac disease with IgA deficiency need alternative blood tests for Coeliac disease eg

Immunoglobulin G (IgG) EMA

IgG deamidated gliadin peptide (DGP)

IgG tTG

Have you had any of the above 3 tests if you are IgA deficient?

"She capitulated about the SIBO and has prescribed antibiotics"

I have sent you a PM with a link about SIBO.

H Pylori

Have you been tested for H Pylori infection? I've read that it can be a very persistent infection.

patient.info/health/dyspeps...

Articles about flattened mucosa (villous atrophy).

I found various interesting articles when I searched online for " causes flattened mucosa" and "causes villous atrophy" or "non-coelaic enteropathy"

ncbi.nlm.nih.gov/pubmed/221...

I came across some articles that linked Pernicious Anaemia with villous atrophy.

One thing I looked into was whether I might have an excess of yeasts in body, Candidiasis.

I am not medically trained.

[Alesia in reply to Sleepybunny]

Familiar story! I too had to find out what was wrong with me and do everything myself, several Drs & consultants didn't have a clue! Took me 18 months to figure it out

[Foggyme Administrator]

Hi Cherylclaire.

Just wondering if your GP is aware that your history meets the BSCH diagnostic criteria for a diagnosis of antibody negative PA (AbNegPA) - B12 deficiency, elevated MMA and a definite clinical response to B12 injections (you're getting better, albeit slowly after such a long period of B12 deficiency.

See page 7 in the attached BSCH guidelines:

onlinelibrary.wiley.com/doi...

I'm also a little mystified as to why your GP wants to stop your B12 injections, especially if she now thinks you may have IBS - IBS is one of the potential causes of B12 deficiency.

Even more mystified because you are the living breathing getting better getting back to work evidence that the B12 treatment is working!

Potential IBS aside, once all other potential causes of B12 deficiency have been eliminated (and you're just about getting to that position) then perhaps your GP would consider looking again at the BSCH guidelines and diagnose you with AbNegPA.

Not surprised you're downhearted - so many of us B12 deficients are let down by the medical professions lack of knowledgeabout B12 deficiency - even at a very basic level (like if the B12 works, don't stop giving it).

Getting well is often a difficult and lonely journey - though goodness, it shouldn't be. It's complex, yes -but surely not rocket science for highly trained medics. You'd think 🙄.

The good news for you is that although the exact cause of your B12 deficiency hasn't been identified (yet), you are having a positive response to treatment with B12, ergo B12 deficiency (from whatever cause) is the issue. And that’s fixable (in the process of being fixed) with continued B12 injections.

So... it might be worth talking to your GP again about AbNegPA - perhaps go through the flow chart in the above guidelines with her.

Take heart, be brave, and keep getting better 👍

P.s. Agree with Sleepybunny about the Coeliac tests - worth chasing-up which ones you've had.

[Sleepybunny in reply to Foggyme]

Hi,

Direct link to flowchart from BSH Cobalamin and Folate Guidelines

stichtingb12tekort.nl/weten...

If GP looks at bottom right of flowchart it states that continuation of B12 treatment should be considered if there is a positive response to B12 treatment even if secondary tests eg MMA, are negative. I interpret this as saying if a symptomatic person responds to b12, treatment should be continued whatever the results of tests.

Flowchart states when Antibody Negative PA can be diagnosed.

[Cherylclaire Forum Support in reply to Foggyme]

Disheartened not devastated, and so will keep trying.

What else can we do, my foggy friend ?

As usual, you and Sleepybunny have set me back on track, given me pause for thought and no longer feeling as flat as a biscuit...... currently more of a Jaffacake !

Why do consultants never give you a clue what your test results are, "normal" aside ? Mostly I'm unsure exactly what I have been tested for. Not helpful if you are watching out for downward or upward trends of which they may be quite unaware, even if currently within range. Or if you want to eliminate something. I will find out about Coeliac tests but she was quite adamant in ruling this out.

Not sure my GP does want to stop my NHS-B12 injections (1 every 2 months), but I'm concerned that she would if advised by a consultant to do so. In fact, she is well aware of my improvement, has commented on it, so have the nurses who see me every 2 months.

[Marz]

So sorry and sad for you that you had such a gruelling time. Just like your art work - so well expressed 😊

Let's hope the Anti-TPO test was one requested along with the TSH. In a perfect world you need FT4 & FT3 tested along with Anti-Tg. When will you see the results ?

Take good care and hang in there ....

[Cherylclaire Forum Support in reply to Marz]

Unfortunately, since I have been signed off by Gastroenterologist, I will only see the results if she believes there is anything relevant there. Her final report is unlikely to include these.

Not sure why she decided against SIBO in favour of IBS, unsure if that would explain raised MMA which was the initial reason for breath-testing. Likely influenced by reports from 2 previous Gastroenterologists, both of whom gave "likely IBS" reports after giving me about 5 minutes' airspace - and no tests done at all -(this was prior to the Lactulose breath test initiated by Haematologist to find non-B12 reason for consistently raised MMA levels).

Thanks for your concern and advice, Marz. I'm back on it......

[Marz in reply to Cherylclaire]

I know I sound like a stuck record but you are legally entitled to have copies of your OWN blood test results - either done from the surgery or at the Hospital. Please please e-mail the secretary of the Gastroentrologist and ask for them - and if necessary quoting the Data Protection Act or NHS Choices Website. Link below. Those results should now be ready ....

nhs.uk/chq/pages/1309.aspx?...

Now Ernie didn't quite come up to expected levels - just 25 GBP's - so there's a start. If I see anything Thyroidie in your results - eg raised anti-bodies - which they love to ignore - then we can plan the next step

[Sleepybunny in reply to Marz]

"Mostly I'm unsure exactly what I have been tested for"

I agree with Marz that you are legally entitled to copies of medical records/test results.

nhs.uk/NHSEngland/thenhs/re...

It is harder in my personal opinion to get copies of hospital records though.

If secretary/personal assistant to gastroenterologist is unhelpful you could contact hospital records office. Search for hospital records office on local NHS hospital website. May involve form filling and visit to hospital records office. You may want to leave a few days to make sure anything relevant has been filed.

As well as e-mail, might be worth putting request in a brief formal letter to specialist and keep copies of any e-mails/letters.

If for some reason you are denied access to hospital records, local MP may be of assistance. Only reason to deny access to records/results that I know of, is if doctor feels that having access could cause the patient harm.

parliament.uk/mps-lords-and...

citizensadvice.org.uk/healt...

[Marz in reply to Sleepybunny]

The link above does include being able to access Hospital Records as well as the Surgery. Also includes Dentists ! Maybe a good idea to send the Link to the Secretary in case s/he is not aware of the law

[Cherylclaire Forum Support in reply to Marz]

Well done....25 GBPs are better than a penny on the pavement. I am cashing in one of my pensions instead.

Have already contacted nearest private hospital regarding full thyroid tests and a GP referral necessary- so will talk to nurse when I get my NHS B12 jab tomorrow, also have to get prescription for antibiotics for SIBO, which are on the list of drugs that clash with B12.

[So GP may end up cancelling out nurse, haha !]

Will let you know, Marz.

[Marz in reply to Cherylclaire]

thyroiduk.org.uk/tuk/testin...

Here is the link to Medichecks and Blue Horizon for FULL Testing. BH have Special Offers on Thursdays - think that is tomorrow ! How does that compare with your local Private Hospital/Clinic ??

[Cherylclaire Forum Support in reply to Marz]

Not sure- will check though !

[Cherylclaire Forum Support in reply to Cherylclaire]

Marz , just started antibiotics and probiotics today- let's see what that does.

Then will try thyroid test- think you are right and those prices will be difficult to beat.

Hot outside and hard to believe a month ago it was snowing

(snow.....cold, white stuff ? Never mind, you've probably forgotten it by now!)

[Marz in reply to Cherylclaire]

We have snow too ! We have mountain views from our house and love it when the snow falls and they look so white against the blue skies ! Hence they are called the White Mountains - Lefki Ori

We moved here in Jan 2004 - and on 14th February we had almost two foot fall overnight - guess that is why my Red Roses did not arrive Sorry have no idea about metric measurements !! Thankfully there was a building boom going on and all those diggers came out and cleared the roads !!

Hope your meds and probiotics do what you want them to do - and that you soon feel stronger ....

[Cherylclaire Forum Support in reply to Marz]

Really trying to get well, Marz. Maybe one day you can point out Lefki Ori to me in person !

So difficult to get help from professionals, the only sound advice comes from here. Otherwise, can't imagine how lonely this would be. It's very draining pretending to be okay, and hard not to hurt others' feelings if being honest. I wouldn't have been able to truly grasp any of this if it hadn't happened to me.

I still don't understand the logic behind treating a patient presenting with various complaints all manifesting at exactly the same time by sending them to a variety of separate specialists working autonomously on one symptom each. There is a common thread getting very tangled here.

So, lots to do still:

Write to Gastroenterologist and ask for full test results with ranges, ask same of Metabolic Diseases consultant at next appointment.

Investigate saliva gland malfunction and link with possible inability to absorb B12 from extrinsic factor. ENT specialist agreed with me on this and on my continuing self-treatment (which seems to totally freak out all the other consultants and distract them from concentrating on my real problems! )

Finish antibiotics and see what that does for me (might even help my saliva glands).

Then organise test for possible Hashimoto's.

Feeling a bit more positive and less of a drama-queen: this clearly is not yet the end of the line !

PS: Having a mini-heatwave, can't go out in it because of warning on Doxycycline label, hence spending hours in library !

[Marz in reply to Cherylclaire]

I so understand the issues with multiple consultants. Have you had a quick peep at my Bio - if you click onto my username OMG spent my life pretending everything was due to what happened some 50 years ago with the TB. Then in 2005 at the ripe old age of 59 I was diagnosed with Hashimotos - it was certainly the beginning of a journey that at last brought me health .... Now at almost 72 - apart from the hip bursitis I am stronger than ever and passionate about people finding the root cause. Or at least ruling out something that governs every cell in your body.

A recent visit to see an Orthopaedic consultant here - had him with his head in his hands at the mention of Crohns and then again when I mentioned Hashimotos. Both conditions combined increase my risk of poorly OUCH hips ! According to the MRI's/scans/x-rays - I should not be able to do the things I CAN do - declared a Medical Mystery !!!

Enjoy your time in the library - wish you were painting for all of us to enjoy

I am more than happy to show you the mountains - we do have a studio next to the pool .... our first guests arrive from France on Saturday ! Been busy !

Take care and stay in touch

[Cherylclaire Forum Support in reply to Marz]

Bit jealous of French guests, Marz !

I like the thought of you being a Medical Mystery- sounds like a superhero name.

[Marz in reply to Cherylclaire]

The story of my life ! - a MM that is x

[deniseinmilden]

Hi!

I'm very sorry for you and know how disappointing it is to feel well for an odd day or two and then be set back again.

I can't offer any answers but know that in the past your body seems to have reacted positively to increased B12 so wonder if it is a case of trying to get the B12 to work again.

Stab in the dark suggestions (forgive me if you've tried them)...

Broad spectrum multivitamin and mineral supplement incase it's a micro nutritient that's limiting things

Methylfolate or even folinic acid instead of just folic acid

Extra potassium, magnesium and iron

Bizarrely I need to eat pork products every day and fish several times a week. I thought it was to do with amino acids but I'm not sure now... all I know is it's critical for me! I've tried a top quality protein drink but it doesn't seem to work the same.

More B12

Trying cyanocobalamin, methylcobalamin or adenosylcobalamin or a combination of these

Checking that the things you are taking are in balance and one thing isn't causing a problem with other things

Doing short term (few days) trials of increasing something significantly and then cutting it out again to see if there's any difference

Googling your symptoms one at a time and see what it suggests for each one independently

Looking up the symptoms for the less obvious things that people speak about on here

Joining the Facebook PA/B12 deficiency support group and asking on there too

Keep trying! Best wishes, Denise

[Cherylclaire Forum Support in reply to deniseinmilden]

It was you, Denise, who first advised me to get a good multi-vitamin and mineral daily supplement, and I have also been taking folic acid daily but willing to try alternative. Gastroenterologist cannot now find any deficiencies, so it must be working !

Don't eat pork or fish, but ensure plenty of folate-rich, potassium-rich and B12-rich inclusions as well as protein. I have been a very strong and healthy vegetarian for about 35 years without a problem, until 3 years ago. Even now I'm getting better, I'm finding rebuilding strength and muscle very difficult. Will keep trying, and thanks for support.

[deniseinmilden in reply to Cherylclaire]

If I think of anything else I'll let you know! Good luck!

[Glaciera]

Hi, sorry to hear of your struggles, I know how hard it is to live with an illness for as long as you have, especially if you can’t get a proper diagnosis and treatment it can feel like your life is put on hold and slipping by.. and it’s very painful and disheartening to be turned away by gp’s and to not be able to find the required care and sympathy. I personally struggled with an illness for third year going with no help from the nhs or some of the private specialists who didn’t know what is wrong and couldn’t be bothered to rule out certain issues. Only recently have I found a link through personal research between many of my symptoms and Leaky Gut / Mycotoxins / Pylori and Candidiasis. I hope you get better soon, I can only recommend to look into those too and get the necessary tests to rule them out. Good luck and hugs, don’t give up! 🌷

[Peepsdog]

Grr. I'm sorry no one is listening to you. Please look into scurvy the bleeding gums are a red flag for it. Vitamin c deficiency can be very severe and affect so many areas of the body. It can also lead to other malabsorption problems as it is required for proper bile production. Interestingly patients are routinly dx with iron, b12 and folate deficiencies in addition to the vitamin C. Hope this helps you get the treatment you need.

[deniseinmilden in reply to Peepsdog]

Very interesting - thank you!

Our vitamin and mineral absorption and metabolism is so intricately linked. It fascinates me and it's always important to find out just what is the limiting factor.

[Cherylclaire Forum Support in reply to deniseinmilden]

Have seen in my NHS osteoporosis leaflet that vitamin C helps with iron absorption too, so worth a try.

I've never been good at fruit, because often too sweet for me ...... once stayed in a lovely hotel where free daily fruit basket included, among other treats, and had to practice before I went ....... it was in Bali, and when we got there, the fruit was wonderful -and completely unrecogniseable to me !

[moni4moni]

how is your digestion generally? any food intolerances?

[Cherylclaire Forum Support in reply to moni4moni]

No, my body seems to reject just about everything now, so cannot work out patterns at all. Can't even work out why I'm not stick-thin. In fact, I've put on weight and lost a lot of muscle.

[moni4moni in reply to Cherylclaire]

That’s interesting because the same happened to me and I’m only 23. I was on the paleo diet and actually gained weight eating so incredibly healthfully for an entire year. I also developed acid reflux, acne, poor immunity, and very weird food intolerances. My holistic doctor thinks I have a malabsorption problem and that my liver/gallbladder is not processing and absorbing vitamins and minerals from food properly. I definitely could not digest fat or protein for the life of me. When I started taking a liquid multivitamin with extra liquid b complex on the side my digestion seemed to actually start working again and my acid reflux went away. I also nearly cured my dairy intolerance. There are certain vitamins that you need to fuel organ function and proper digestion so when you lack them you start digesting even worse and then it’s a vicious cycle.

When I went paleo and basically removed all of my food intolerances the only thing it cured was discomfort from those foods. I found that liquid supplementation (goes into your bloodstream) combined with removing problem foods is the key. I also had perfect blood work and no celiac or any other disease for that matter, not even thyroid despite all of my symptoms. Basically, my problem is that no matter what I eat my body isn’t benefiting from it and my metabolism was starting to break down. For me, the right combination of b12, folate, zinc, and iron as well as a liver support supplement (milk thistle) seem to help my issues so much. I hope this helps. google: congested liver, weak gallbladder, possibly low stomach acid. I know this isn’t professional medical speak per se but it helped me.

[moni4moni in reply to moni4moni]

also magnesium glycinate helps me a lot as well!

[Cherylclaire Forum Support in reply to moni4moni]

Have only done 6 week FODMAP diet which did not do anything (except make life hard and food choices a bit boring) -on advice of a dietitian. Still -in spite of this- keep getting told it's IBS, which does not explain other symptoms.

Think for women, IBS and/or depression way more likely misdiagnoses.

Elimination difficult as I've had daily diarrhoea for 3 years now, no matter what I eat. That is why I don't know where to start at all. Fasting and purging prior to endoscopy procedures is pretty awful for anyone, but actually made me feel better for a while after: gave my body a break from all that constant rejection.

Certainly, a lot of b12, folic acid, multivits and minerals helps with all symptoms, some easier to control than others. Cognitive difficulties not as frequent, but remain by far the worst of all my problems. No longer that bothered about hair condition or loss, nail condition or bleeding, bleeding gums, bad teeth, sore or cracked corners of mouth etc. (which still come and go in spite of my efforts, but less dramatic now)- as at least GP/nurse/consultant can see these symptoms, which means they are difficult to ignore.

Never had more than tingling and numbness in hands, feet, lower part of legs - no mobility issues beyond a tightness in legs at very worst. For that, I have always been grateful. I know this is a major issue for many here.

[moni4moni in reply to Cherylclaire]

yes. I completely understand. It was the same for me. hair loss terrible nails cracked corners depression anxiety irregular menstruation. My guess is that you have severe deficiencies that don’t show up on blood work because you’re supplementing to keep yourself functional! have you tried probiotics?

[GGourmet]

I am no medical specialist but this is pretty much just as I experienced but the MMA test was never done. I have had success with daily multivitamin and mineral plus 2000 microgrammes of sublingual Methylcobalamin. Additionally Hydroxycobalamin injections every 2 months.

It appears that mine was possibly down to a corrupted biome but the PAS research is to report next month on this.

Treatment together with those above was Symprove probiotic to help restore the biome, as recommended by my gastroenterologist. Antibiotics could be counterproductive if you don’t take probiotics and this was part of the underlying cause.

I hope this helps.

[Cherylclaire Forum Support]

Yes it does, although not sure what biomes are let alone what might corrupt them.

Am taking daily multivitamin and mineral plus additional folic acid daily, D3 daily and Risedronate weekly due to osteoporosis of spine. Also injecting B12 every other day as 1 NHS injection every 2 months alone means deterioration for me.

Will certainly take your advice about probiotics- thanks.

[GGourmet in reply to Cherylclaire]

Your biome in the symbiosis with bacteria. In this case, it’s gut bacteria, the sworn enemy of broad spectrum antibiotics. Metronidazole is a gut bacteria stripper that should strip C Diff too, but you must use a probiotic to repopulate the gut. Probiotics must usually only be taken within 30 minutes of waking and take no other food or drink for another 15 mins. This helps protect the probiotic from higher stomach acid levels that occur later or after eating/drinking.

[Cherylclaire Forum Support in reply to GGourmet]

Thanks, GGourmet - started Doxycycline and probiotics today. I'll let you know what happens !