Feedback Please

help with getting a diagnosis

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Feedback Please

Postby sacrosanct » Thu Jul 16, 2015 8:12 pm

Hey peeps,

I'd like to share my story and receive your feedback if possible.

When I was around 7-8, I was running in the school playground with my arms pulled through my sleeves into my coat (very silly I know). I hit a grate, and without any means of preventing it, smashed all my face on the concrete. I was quickly rushed inside where the school secretary tried her best to patch me up. The headteacher walked in, and asked whether my nose was broken. She replied it was and asked whether I should be sent to the hosptial. Her shrugged non-chalantly. and walked out of the room. After an hour or so the bleeding subsided, and I was sent back to class. I was never taken to have it seen to.

As I grew older it got much worse. The left nostril is completely cut off, and the right is not much better. I therefore have virtually no sense of smell, as air simply doesn't go up my nose. The only way to get anything meaningful up there is to physically hold my airways open, or shoot massive amounts of otrivine or similar up there.

Around 22ish I started to get people around me who would notice that I smelled. And when I say this I mean not just a nifty whiff of sweat or similar. Unfortunately I have lived on my own for quite some time, and therefore attributed this to the fact that I was probably doing something stupid that other people were not, on the basis that I cannot smell anything. I lurched from one thing to another trying to eradicate this problem, to the point of OCD, but have never been able to.

I also have another issue which is my stomach/digestive system doesn't seem to handle much. I never have solid bowel movements, and most things I eat seem to upset my stomach quite a bit.

I have spent a good 7 years in and out of GP offices fobbing me off with one thing or another. If I tell them about the lack of smell, they tell me everyones sense of smell is different as it is a subjective thing and therefore won't refer me anywhere else. If it tell them about the digestive issues, they check my prostate then tell me that bowel movements are purely a function of what you consume and therefore everyone is different and send me on my merry way. It goes round and round in circles.

Eventually I got pissed off enough to look around online for anyone who could help me with either issue. Naturally its not too difficult to find people with medical experience with noses. Henceforth I looked online for septorhinoplasts, and luckily found one ranked in the top 10 in the UK not too far away. I coughed up some 200 pounds, made an appointment and explained about the loss of smell. He put on some gloves, had a feel around and told me the the bridge is broken in two places, the septum is completely squashed into the left nostril at the bottom cutting off my left airway and pushed into the right nostril at the top, severely thinning my right airway. Not only that, he felt inside and told me that the septum is completely snapped off the nasal column (ie the septum inside isn't even attached to my face properly). I asked him about my sense of smell, and he informed my that although he could guarantee my airway would be clearer if I has surgery, he could not advise me on whether or not my sense of smell would return as it simply wasn't his job. HIs job was to alter the aesthetics and therefore he wasn't in a position to make a medical assessment on it.

The consultant sent my results directly to my GP. I made an appointment with my GP, who is subsequently now refusing to send me to see anyone else on the basis that 'they aren't going to tell me anything else'. Which is of course complete bullshit.

Trying to resolve the other issue, which could honestly be anything from a food intolerance to bowel cancer (I have never been refered anywhere for them to even check), I walked in and demanded that a test for TMAU be performed to rule it out and I would pay the cost of the test. He eventually relented, making it perfectly clear that under no circumstances did he believe I had it. The results came back thusly:

TRIMETHYAMINE : 14 umol/mmol creat
TMA-N-OXIDE 35.3 umol/mmol creat

I now have an appointment with a metabolic specialist. I want to make it perfectly clear that anyone I have ever seen or read about who suffers from TMAU came to the conclusion they had it because they knew everything else was clean and were therefore confused as to why people reacted to them the way they did. I don't even have that luxury, because I know for a fact on several occasions when people have made comments I have gone back and realized I have done something stupid, like been in the bath for an hour then rubbed a sweaty towel all over myself by accident, not knowing purely because of the fact that my sense of smell is f*cked. If you think it's confusing just having TMAU, try possibly having TMAU and not being able to smell anything whatsoever, TMAU or not. I guess at least if you have it and you know that's your problem you can say to people hey, I have TMAU. I could say that and someone turn around and be like WTF are you talking about, its your clothes that smell, not you. Then think I'm a nutter, or worse a liar.

Here are my questions:

From your experience what are the chances of a false positive result? From the results you guys have posted my overall TMA reading seems quite low, but my TMA/TMAO ratio seems twice the reference range.

Does anyone else have stomach upsets / simple digestive issues. I mean when I eat certain things (mayo as an example), I feel like a nuclear war has erupted inside, not painful, but crazily gassy as if someone is pumping my insides up.

Looking forward to hearing from you guys.
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Re: Feedback Please

Postby Lisa » Sat Jul 18, 2015 8:10 pm

Hi there,
Quite a few people with TMAU can't smell themselves, so, if you do have it you are not alone on that score.
I will respond properly, as best I can tomorrow, hopefully Poetfire, or one of the clever ones, will analyse your results for you.
I have a very gassy, explosive tum when I eat something I shouldn't, think fireworks & you're there, maybe you have IBS? I am certainly not an expert, and I'm sure one of the lovely people on here could help you more?

Just wanted you to know that your post has been noted, and not ignored.

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Re: Feedback Please

Postby PoetFire » Sun Jul 19, 2015 4:09 pm

Hi Sacrosanct

re your TMAU result
My amateur view is :
The total TMA + TMAO seems pretty lowish, implying to me that you did not have a lot of TMA generated
But you only oxidized about 71% of the TMA ? I think the UK lab says a normal person should be at around >80%, but I think they are conservative and it should be at around >90%.
So in this test it does seem to imply a result of TMAU1 due to FMO3 deficiency.
But I am sceptical that one test is enough unless the person gets say <50% or <30% etc.
I have done the test 3 times myself and was TMAU1 for the first and TMAU2 for the other 2.
I don't know what the issue is but for most of us in the 'mild' area, imho the result can fluctuate.
I would guess you are carrying maybe 1 or more of the common SNP's like E158K or E308G

Currently the 'definition' of TMAU1 is pretty strict (imho) and most qualified experts would disagree with me I think. Personally I think it's the other way around, if someone reports of smelling and has 'outlier' results for FMO3/TMAU, then they probably are part of the group.

So at the moment I would say your result was inconclusive but suspicious (with me leaning towards an FMO3 issue)

re your nose problems :
I'm sorry to hear about your issue and you did the right thing going to a private consultant. I am surprised the NHS GP does not feel anything else is needed done. I would try other GPs to get a consultant appointment. I think the surgeries may get their own budget now, and maybe don't want to spend money they could keep.

As Lisa says though, most of us cannot smell our own malodors. In your case you have an added anosmia problem. For most of us I think the brain ignores what malodors are in the bloodstream, although it does seem to me that someone with any form of BO/halitosis cannot smell themselves or they would fix it (if solveable).

Re gut problems :
Yes my impression is that many/most of us report of gut issues such as IBs etc. Me included but not as obvious as yours. I think there it is part of the 'syndrome' myself. Not sure why. I am told that FMO3 would not likely play a role in the gut as it needs an oxygen rich environment to thrive. I don't know though. Maybe the lower colon or something. Just a hunch at the moment.
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Re: Feedback Please

Postby sacrosanct » Fri Jul 24, 2015 9:15 pm

Hi Peeps,

Thanks for your responses.

I have a few more questions . . . .

The first is that when I was younger, I noticed on a few occasions that when I had actually eaten fish, I could smell fish on the clothing I had been wearing where I sweat. It didn't smell like rotten fish, just actual fish. I don't know whether this was just the normal process of sweating out the odours of what one has eaten, or maybe an indicator of TMAU. Did anyone else notice this when they first started out with this?

The second is that I am still at the phase where I am pretty much eating whatever I want (which includes a lot of fish). My nose has been a little jammed and then I came upstairs and my nose cleared and I did smell something a little off. More sulfurous than anything else with no immediately identifiable source, other than myself. I know I have been clean all day as I was at an appointment where a perplexed doctor told me she couldn't smell anything. I have been eating chicken all week. I then realized that when I came home I had eaten 2 large basa fillets (LOL). When I took my urine test, I ate only choline rich foods, eggs beans etc. If my results are indicative of an FMO3 deficiency and that little TMA was actually generated from choline, might it be possible that actually I only have a relatively weak version of TMAU1 and if I simply cut out fish or TMA containing foods I might notice a large difference? ATM I am a tuna freak btw, I eat it almost every lunch time (except this week where I have had chicken).

The third might be a ridiculous oversimplification (I am a man of logic, and therefore work in simplified closed questions most of the time). Here's the question. If one of the 'symptoms' of TMA is not being able to smell it when others can, wouldn't a good test of whether a person might have TMAU be to simply give them a jar of TMA and see if they can smell it or recognize it?
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Re: Feedback Please

Postby PoetFire » Mon Jul 27, 2015 7:22 am

my view on your questions :

1 : When you eat 'fresh' seafish you are eating a food high in TMA-oxide. Some of this is broken down to TMA by your gut bacteria. So to the liver it probably means a high dose of TMA to deal with. So I guess it is a a TMAU test of a kind.

2 : In my opinion I think most of us will be 'weak/mild' TMAU1 cases. Personally I think it means being prone to all FMO3 substrates, not just TMA. That means many sulfides and amines. To me it seems to be more complicated than just avoiding TMA and it's precursors in my opinion. I think for most it is probably a syndrome, a mix of 'gut dysbiosis' and FMO3 deficiency that seem to come as a package. Perhaps for some avoiding TMA will be enough to reduce the FMO3 load but I am sceptical.

3 : It would be interesting to see if we could smell TMA in a jar as good as normal people. I am not sure because to me I suspect it might just be an anosmia to the smell when it has been emitted from a human's 'blood/lymph system' (so to speak). I suspect I can smell the odors from 'non-skin' sources. Maybe human blood tags the odors in some way not yet known or something. If that's not the case, maybe for some reason we have a higher threshold to the smell . The 'anosmia' part is still a mystery to all I think, so any view can be suggested. It seems to be the norm in all types of body odor/halitosis, otherwise most with 'treatable' bo/halitosis would I guess solve their own problem.
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Re: Feedback Please

Postby sacrosanct » Tue Jul 28, 2015 1:23 pm

I guess the anosmia aspect of TMAU is probably the most understandable from my experience. One's olfaction tends to acclimatise to any odour present over a long period of time, no matter how bad.

I have another slightly unrelated question. Has anyone looked into any detail of the use of Zantac? It's primary function is to reduce acid in the stomach and therefore reduce ulcers in the stomach and gastrointestinal tract. One of the side effects however is the elevation of liver enzymes. The enzymes usually of concern are Aspartate aminotransferase (AST), Alanine aminotransferase (ALT) and are measured in blood tests.

It would be interesting to see the effect (if any) on FMO3 production.

I have come across a few posts on forums linking zantac with odours of one form or another. Perhaps the reason their results appear to alter is because of enzyme alteration, and not because of the reduction in reflux etc they are currently attributing it to.
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