Diagnosis

help with getting a diagnosis

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Diagnosis

Postby tmau » Sat Jul 04, 2009 11:15 am

Hi all,

I first noticed a body odour on myself when I reached puberty. I am 30 now and still suffer from it. It has taken over my life as I don't go and make any new friends out of embarassment. I went to my doctor a while ago and she said that there is nothing that can be done. Could someone please tell me what I can do and where I can go to at least determine whether it is TMAU that I have.

Incidently, I only learnt that there is such a thing as TMAU yesterday, while typing the words "body odour" in YouTube.

Any help would be appreciated.

Thanks,

S
tmau
 
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Re: Diagnosis

Postby admin » Sat Jul 04, 2009 11:43 am

Hi tmau,

Welcome to the forums, having been undiagnosed for years I understand the hell that tmau inflicts.
You are certainly amongst friends here, I was years without a diagnosis and packed in a job I loved with the Police because of the stress tmau gave me.

Most doctors haven't heard of tmau, having said all that it is a very rare condition and there are other medical causes of body odour. Do your symptoms include a fishy odour? (This is the most common description of the smell though there are others)

I would print this page out and ask your GP to have a look here (as it’s an NHS site he/she will give it the credence it deserves)

http://www.library.nhs.uk/skin/viewReso ... sID=276836

And then follow the link to here, if you can print that out and give it to your GP:

http://www.ncbi.nlm.nih.gov/bookshelf/b ... ylaminuria

when you click on the links I would open them in a new tab or page - there's a slight issue with the website at the moment that means they don't open in seperate page - I'm trying to get this resolved.

This should give him all the info he needs.

Once at that stage he should refer you for testing.

Sheffield Children’s hospital used to run Urine load tests - Dr Nigel Manning was in charge, I'm not sure if this is still the case (as I was tested a few years ago)

I myself have now been referred on to a specialist Dr in London.

It’s a lot to take in I know, keeps us updated on how you go.

In the meantime if you think you do have tmau check out the links page on the forums which will give you a list of foods and their Choline levels (this a precursor for tmau and you should try and keep this as low as possible whilst still eating healthily)

Cheers, admin :D
Last edited by admin on Sun Jul 05, 2009 12:26 pm, edited 2 times in total.
admin
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Re: Diagnosis

Postby tmau » Sun Jul 05, 2009 10:29 am

Hi Admin,

I actually live in London. Did you get referred to the specialist by your GP. If I were to go to my GP with the name and place of work of this specialist do you think my GP would be able to refer me to him?

Thanks

S
tmau
 
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Re: Diagnosis

Postby admin » Sun Jul 05, 2009 12:42 pm

Hi S,
My own route to diagnosis was via a tmau test at Sheffield children’s hospital (they were running a trial at the time and I stumbled on this infowhilst on the net - this was a few years ago now), when that was positive I had DNA sequencing done to confirm the gene mutation, from there I was referred for genetic counselling who managed to find my Consultant in London.

I think you need to see your GP again and let them have the information from the links, they would then make a decision on where to refer you, its certainly worth mentioning the details below.

The details of the Consultant I see in London are:

Dr. Robin Lachmann, Consultant in Metabolic Medicine, National Hospital for Neurology and Neurosurgery in London,

speak soon and keep us all updated on how you go.

cheers ..
admin
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Re: Diagnosis

Postby tmau » Sun Jul 19, 2009 4:04 pm

Thanks Guys,

I will keep you all updated but until then I have something else to deal with. I've had a couple of blood tests that suggest I might have diabetes. I now have had a fasting blood test to confirm whether this is the case and I'm awaiting the results. I'll deal with my diabetes first then with my possible TMAU. I've also got Keratoconus. I don't know if there is a link between these different conditions and wonder if anyone knows?

Thanks.

S
tmau
 
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Re: Diagnosis

Postby bigvern » Wed Jul 22, 2009 10:12 am

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.
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Re: Diagnosis

Postby merkap » Tue Oct 13, 2009 6:40 pm

Have now got a mail reply from the hospital here in Sweden that are doing tests for TMAU. The MD tells me in the mail that they use a ordinary, untreated urine sample "when it smells at most" and then they put in potassium. TMAU then gives a "very characteristic" smell from the test tube and is diagnosed that way!
Sounds peculiar if someone is putting a nose to the test tube, the MD maybe oversimplified the explanation and in reality will use some kind of analytical instrument (GC?).

But as i suspected, there have to be an referral from a local doctor. Now I have to put up all my guts to visit a doctor and hopefully also find an open-minded and unbiased one.

Think I need some time to gather courage for this...
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Re: Diagnosis

Postby bigvern » Tue Oct 13, 2009 7:59 pm

sounds strange to me - though as you say they may be over simplifying it for you.

My urine test examined the levels of trimethylamine (tma) and tma n-oxide.

the second one is metabolised version of tma and is non smelly (good)

the higher the % of tma n-oxide to tma the better (ie the less affected you are)

take a look here for testing methods:

http://www.ncbi.nlm.nih.gov/bookshelf/b ... ylaminuria
bigvern
 
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Re: Diagnosis

Postby merkap » Tue Oct 13, 2009 8:53 pm

bigvern wrote:sounds strange to me ...........................
................................


Yes, really strange. If it is that simple (well...), why isn't there already a self test? Got to be a catch somewhere.
I will however try it - have no alternative. Found a private doc this evening and have mailed her for the referral paper.
Her practice is only about 50 km away and that is almost in the neighborhood up here, not far from the Arctic Circle.

Really nice to have you guys to talk to, feels like I'm on my way back into a community. Thank you.
Good night to you all.
merkap
 
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Re: Diagnosis

Postby merkap » Thu Dec 03, 2009 10:13 am

Hello,
things are starting to move now, got a mail reply from this GP I contacted earlier.
She said she had a lot of work piled up after her travel abroad but is now catching up.

After consulting a genetics specialist she came back with a lot of questions about my relatives and children - if anyone of them suffered from TMAU.
Could not tell, have not dared to talk to my children about this problem.

Now she will contact the people that in fact do the urine test and ask for instructions and then call back.

The phone is watched here...
merkap
 
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