help with getting a diagnosis

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Re: Diagnosis

Postby merkap » Sun Jan 10, 2010 4:35 pm

No bigvern, I have not got any message from my doc.
I suspect she is overseas for the X-mas, she is from abroad. Hopefully she will be back in Sweden now when all holidays are over.

Have been thinking a lot about this TMAU complex and have read on forums how people have been hit in all kind of ways.
Maybe most of us suffers from TMAU as a basic illness but due to individual differencies (genetical, physical, mental - and combination thereof) it manifests as all sorts of odors coming from different parts of the body.
That does not necessarily change the treatment, what is effective for one person may not be good for another sufferer so I think it is better to stick to what has showed to be helpful.

But it would be so nice if this TMAU problem will be observed to a higher degree in the different National Health Systems so we can have really serious research about the illness.
So many lives have been destroyed and that alone should be a reason to do something serious about TMAU - not mentioning the costs for the society to treat all kind of diffuse symptoms which in fact have TMAU in the bottom.

Just some thoughts...
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Re: Diagnosis

Postby tmau » Mon Jan 18, 2010 10:29 pm

Hi all,

I have been dealing with my diabetes in the past few months and am making a lot of progress with keeping it under control. As for my odour issue, I went to a GP for a second time (a different GP from the one I met at the first visit as the surgery I go to is a training facility for recently graduated doctors who get assigned to you depending on who's working the day you go to the surgery). I explained that I had come before and was told to go away and not drink tea for a month and see if that has any affect. I told her it didn't and that's why I had come back. I came armed with printouts of the 2 articles that Admin provided links to (thanks Admin) and contact details for Drs Manning and Lachmann. I told her that I'd really like a diagnosis as it would help me a lot in my social and work life. Well, she was having none of it. She said that it was a matter of life and death that I was suffering from this problem and it was not serious enough to warrant sending me for expensive referrals to specialists and to pay for the urine and blood tests I suggested could be done to make a diagnosis. She also picked up very quickly on the fact that this was not something that could be cured and that's why it was not worth doing anything about. In fact she seemed visibly angry that I had dared waste her time by coming to her. When I mentioned that one of the ways in which the disease is controlled is through diet her response was that I should try applying the diet. I replied to her every objection and finally she relented that she would look into getting me diagnosed but she said she wasn't promising anything. I told her she could email or call either Dr Lachmann or Dr Manning for more information. She seemed like she had no idea how to go about getting a patient diagnosed with TMAU.

Anyway, will keep you all posted.

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Re: Diagnosis

Postby smelly » Tue Jan 19, 2010 11:12 pm

Hi tmau,

yep, this is what we are up against.......

from what i have experienced, I think you basically have to drive this through yourself.

If you are working and have access to cash and dont get a referal from GP, I would advise you email Lachmann and / or Manning for details of testing at their facilities, privately. (lachmannn answered my email promptly.) Then ask your GP to refer you , using those details, WITH YOU PAYING (im sure that even for private treatment you need an initial referal from GP.) Then either you pay for testing or they panic a bit that you are serious and there might be questions about why you paid for something that Lachmann has said should be freely availbale on NHS, and they pay. if Gp doesnt want to do anything, I researched that i could see a private Gp (yellow pages) for £30ish and get him to arrange it (and i think lacmann said he would go with a private GP referal.)

there are adverts on other sites for private labs doing tests without your GP referring you, but i dont know their story. Ii would try and get the test done through Lachmann/manning since they are experts and seem very cooperative / understanding about problem of getting NHS GP referals.

Let us know how you get on so that we can work out what is best approach to getting tested / treated when you live in a GP practice area with limited funding and lots of health rationing!!!!

Oh, and the advice from doctor about trying out the TMAU low choline diet to see effect ,is actually worth following. I cant smell all of the smells people atribute to me so i cant tell how effective the diet is for me, but i roughly follow it JUST IN CASE, because Im desperate! if you can smell the problem odours yourself you should definately be following it until you get a negative tmau result. I think this is the major 'treatment' you would be given with a positive result anyway.

Good luck!
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Re: Diagnosis

Postby admin » Thu Jan 21, 2010 6:43 pm

Hi tmau,

Your story is all to familiar, although to be honest once most GPs are made aware of the fact that this is a recognised illness then they become more helpful. I am surprised by the seeming inability of your GP to recognise how serious this is.

Is there a practice manager you could speak to about this?. This is not a trivial illness, if only due to the fact that it can have very serious mental health issues.

I am working to get together a definitive list of step by step actions for people who think they may have TMAU to get diagnosed on the NHS.

Keep us posted.
Site Admin
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Re: Diagnosis

Postby merkap » Sat Jan 23, 2010 4:24 pm

admin wrote:Hi tmau,
I am working to get together a definitive list of step by step actions for people who think they may have TMAU to get diagnosed on the NHS.

Keep us posted.

That list of steps for getting diagnosed seems to be a very good idea! And as mentioned before, some relevant links to web sites with explanations and facts about TMAU shure is good to give to the contacted GP.
Lots of things is much easier if the Doc can read for him/her self about TMAU. Information is as always very important and if the info is given by well known institutions there is not much to argue about.

Good luck with the list and when I am through with all steps in my own diagnosis I maybe can be of some help with procedure glimpses from the Swedish horizon.

Warm regards/merkap
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Re: Diagnosis

Postby merkap » Wed Jun 02, 2010 5:55 am

Now got this bill from the doc. She wants €110...

But - she have not received any documentation from the lab analysis of my sample and her written guess in the mail to me is that "they just opened the test tube and checked the smell". And did not bother to make an chemical analysis due to the "characteristic smell".
Very scientific in the year 2010. And furthermore from Karolinska Institutet wich is a well known research institution in Stockholm! Hard to believe.

Well, I suppose I have to pay the doc but it feels like I am getting nothing for my money. My TMAU illness was known to me many many years before this "smell test" and I just wanted an written confirmation.
Now I am back to square one again and very frustrated.

Mailed back to the doc an explained my view and asked her (again) for a signed analysis report from the lab.
But I suspect they can't produce an analysis report if they just dipped their noses in the test tube and then discarded the sample.

Should be interesting to see what the doc answers, trying to justify taking my money and delivering nothing.
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Re: Diagnosis

Postby merkap » Fri Jul 09, 2010 7:41 am

Now got a reminding email from my Doc. About her money.

She enclosed all specifications about costs for the test tube package, dry ice, worked time with my referral and emails and mentioned phone calls and so on.

She also enclosed the scanned hand written message about the smell test from the lab. Four short hand written lines - readable with difficulties - confirms my past, present and future TMAU situation.
In vague words though, "the positive smell test speaks for a TMAU illness"...

Got the info that the lab assembles a group of pee testers every time they receive a urine sample and they are then all familiarizing themselves about the smell of the alkalized urine sample.
Can't help it but I am getting an picture of a bunch of white coated figures sitting on chairs in a circle and passing the test tube around, dipping their noses in the tube and inhaling the vapors.
They probably are doing it in another way, but in lack of proper info you never know...

Anyway my doc offered me a referral to a specialist in the nearby hospital for discussions about treatment. Periodic antibiotic treatment was mentioned and also a strict diet - treatments already known in this and other TMAU mail groups.

In other words no treatment news so far but it would anyhow be nice to talk things over with a specialist.
And now the free (well...) Swedish Health Care kicks in, just 10€ or so for every consultation in the hospital from now on.
But as we all know there is no TMAU cure, I can only lessen the manifestation of my genetic illness.

The formal, scientific, signed lab report will however be deeply missed by me.

BTW, dry ice is 4€ per kg... :mrgreen:
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Re: Diagnosis

Postby Ms Bananas » Fri Jul 09, 2010 9:56 am

If you want to get tested properly you could try Mullhaven as Magsie suggested me. You can order the test online, price's pretty high at least for me, but maybe later I'll do it.

Ms Bananas
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Re: Diagnosis

Postby merkap » Sat Jul 10, 2010 1:04 pm

Thank you Ms Bananas for the URL, will digest my situation so far before I order a test.
Will also talk to the specialist i am getting a referral to, maybe he can provide me with a written diagnosis.

But I am really questioning why they don't do a proper test here at Karolinska, Stockholm. Money or politics?
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Re: Diagnosis

Postby melcorio » Sat Jul 10, 2010 10:13 pm

bigvern wrote:howdy tmau,,  I don’t think Trimethylaminuria is linked to other diseases but I’m no expert. I have chrons disease as well which is a stomach disorder and bothe my consultants say they are not linked. I have heard other people (not medical people) suggest that liver disorders can make the symptoms of tmau (the semll) worse.
Hi i'm melcorio
I e-mailed Dr. Lachman after i was diagnosed to tell him that i had hepatitis A as a child and that i was also allergic to hen eggs. I asked if this had any relation to my tmau but he said no.
I saw the tv documentary and came straight to the website and read the interview with Dr. Lachmann. I went to my gp with the website adress. Gp's dont no much about it so you,ve got to tell them that u need a 24hr urine test. In my case the practice nurse was helpfull an she got the equipment. When i was diagnosed the gp didnt explain it properly. When i was seeing the nurse about something else she let me see my notes then i knew i had tmau2. Nobody really knows much about it so youve got to fight. Dr. Lachmann is a good man and he will answer your e-mail straight away and the dieticians will answer your questions too.
Theres no easy way to live with this thing. I'm a clean person and would love to smell fresh. I wish i cud speak to you all and discuss more. I feel sorry for you all that you have to suffer this horrible thing. Good luck to everyone and maybe one day there will be a complete cure.
In case you dont have it heres Dr Lachmanns e-mail adress:-robin.lachmann@uclh.nhs.uk
and the dietician is Charlotte Ellerton:-charlotte.ellerton@uclh.nhs.uk
It doesnt matter if u dont live in london or sheffield your gp can liase with them from where you live.
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