DNA testing

help with getting a diagnosis

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DNA testing

Postby bubbles » Mon May 21, 2012 5:41 pm

Hello, Could anyone help, I have been diagnosed with tmau, my urine sample indicated the primary/genetic version of this, I had my sample taken just before my period started which definitely seems to be the worst time for me, even with the restricted diet and supplements I have some good weeks in the month where I can keep the odour at bay but this time frame that i mentioned above is very difficult. If I had my bloods done for DNA screening or testing , is there a specific time when I need to get this done, in other words my TMAU is at its worst just before my period so would my DNA only show this weakness at this time, sorry for my ignorance but genetics goes way over my head!!!!!! Thanks Bubbles.
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Re: DNA testing

Postby PoetFire » Mon May 21, 2012 6:46 pm

Hi. The DNA test you can take anytime. It will always be the same result. No need to worry about anything altering it. What I mean is, your faults (if any) will remain the same no matter what.

The only concern I would have is whether it is just a test from a list of known variants or if it's full sequencing. It's best to get full sequencing and have the full data but I am not sure if the NHS testing gives this much. Some labs give a 'restricted view', a bit like watching a concert behind a pillar (they believe you are getting to see the 'important parts'). Also the interpretation may not regard some combos of faults as 'deficency causing' etc, so may come up with false negative interpretation.

Even with full sequencing you only get told about the 'coding part'. You can have faults in the junk part or other associated parts and these won't show.

Sorry for all the catches to the test but unfortunately I have found that DNA testing is not as straight-forward as we imagined. It's still worth doing, especially if free. It's a bit like Rumsfields comment : there are known knowns, known unknowns and unknown unknowns etc (?). Probably most will at least show some and probably all of any faults they have in a first DNA test.
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Re: DNA testing

Postby bubbles » Tue May 22, 2012 7:48 pm

Thanks Poetfire for your reply, unfortunately I would have to pay for this myself as I did my urine sample, my Gp is not entirely sold on TMAU, he is a nice man, you see mine is a complicated story, I always complained years before diagnosis that I thought I sometimes gave of an unpleasant odour, I could never get the odour on most occasions (a few times I have) but judging by others reactions (mostly the workplace) I felt sure that I was the source, now this lead to excessive washing and checking and so I was diagnosed with OCD, this smell was according to the medical professionals imagined and all in my head, it wasnt detected by my family, etc or by my doctor. Well I got a diagnosis of TMAU1 in September and still people are reluctant to see past my former OCD diagnosis which is very frustrating. My Gp is a nice man, he has a warm and friendly demeanor but when I asked about getting the bloods done he said I would have to pay for it myself, which he gave reasons for - it would have to be referred to the board which takes a very long time, etc. I might go and get my blood taken privately to see if it is genetic. I really want to have children in the future and I dont think TMAU should stop me from fulfilling this lifelong dream of being a mother, I have always been very maternal however I do worry about passing it on because I know the depths that I have sunk to in despair over this awful disorder. If I do go ahead with the DNA testing, what exactly do I need to ask for? Many thanks Bubbles. X
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Re: DNA testing

Postby PoetFire » Tue May 22, 2012 8:53 pm

Hi Bubbles. You could try asking your GP to refer you to the local metabolism unit (I would check to see they know about TMAU. Quite a few do now eg Cardiff, London, Glasgow, Birmingham, Manchester ... it's usually the dept where diabetes patients are reviewed). Hopefully they would dna test you. Anyone with a tmau1 urine test is suggested to be dna tested by the urine test lab. Or you could try another GP.

Whoever you see, you would ask them to dna test your FMO3 gene (preferably full sequencing). Also after it is done ask for a copy of the results data. Many consultants tend to keep the data and give the patient and GP an 'interpretation' only, which is unsatisfactory imho. If that happens you can ask for the data.

Testing some other way may be a bit difficult. Mainly in accessing a lab that would test. 23andme.com do a 'restricted view' (17 codons out of 532 but where common variants often are). I think they are $299. This is unsatisfactory but quite cheap. At least you get the data of the 17 codons. They also test a lot of other genes which you may not wish to see (eg parkinsons variants etc).

I will let you know if I can think of anywhere else
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Re: DNA testing

Postby bubbles » Wed May 23, 2012 9:20 pm

Hey Poetfire,
I did ring my local metabolic unit, they weren't very knowledgeable about tmau, I also rang the endocrinology dept and whoever I got there didnt know about tmau either. I come from Ireland, I would be reluctant to get a new GP, he is a nice man, really nice and emphatic but he thinks the board just wont okay because inot much is known about it, he had never heard of it and I fear my history OCD re smell doesn't help my case either. If I have to pay I will but it might have to wait a bit as it is expensive but I suppose my DNA isn't going anywhere!!!! Thanks for your advice, it is such a complicated disorder, you know I went shopping tonight in a rather large Sainsburys and there were only three aisles out of about 20 that I could go up with this crazy restricted diet, the fruit one, the veg one, the bread with some of the freefrom pastas but I suppose I am getting used to it now!!!!! Thanks Bubbles.
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Re: DNA testing

Postby PoetFire » Thu May 24, 2012 1:02 am

You could ask your Dr to contact or refer you to Dr Eileen Treacy in Dublin. She has past history in TMAU research and tests people (she sends the samples to Sheffield).
http://www.bloodbornebodyodorandhalitos ... tosis.html
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Re: DNA testing

Postby bubbles » Thu May 24, 2012 5:02 pm

I got in touch with Dr Treacy in July before diagnosis but she wasnt taking new cases or adult cases I cant remember which one she said but it was something along those lines!!!! Anyway I am not getting it done right away so can have a think to either have it done by my GP and pay or go privately and pay. TMAU is all money!!!!! Thanks for your help Bubbles
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Re: DNA testing

Postby PoetFire » Thu May 24, 2012 9:45 pm

Sorry to hear that about Dr Treacy. It wouldn't surprise me if too many adults were requesting to be seen as I don't think 'fmo3 malodor' (as I would call it) is rare. It wouldn't surprise me if in metabolism depts it will end up 2nd only to diabetes. Good luck in the future.
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Re: DNA testing

Postby bubbles » Thu May 31, 2012 10:41 pm

Hey Poetfire,
Your definiton of FM03 malodour is very interesting, given that many people dont experience the classic fishy smell that is associated with tmau but experience many other odours, which vary according to the individual so perhaps Trimethylaminuria/ choline is not the only thing our bodies cant break down or process properly. I think this disorder of ours is almost like a spectrum, ranging from those who suffer all the time with a constant strong smell to those who suffer intermittently with a strong smell or those who like myself their odour and the intensity of this varies according to the time of the month, with the diet and supplements if done correctly I can control it for 2-3 weeks but around my period it seems to be harder to manage even if I do everything right, so I have kind of figured that I have a reduced FM03 capacity at the best of times and if I eat regular foods this becomes overloaded and hence an odour is created regardless of when or what part of the month it is, however even if I stick to the diet and supplements the timeframe around my period is always going to be difficult as I really believe that my FM03 is further reduced or compromised by female hormones or increased bacteria at this time. Thanks for taking the time to respond to my queries, continued good luck. Bubbles. X
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Re: DNA testing

Postby PoetFire » Fri Jun 01, 2012 11:48 pm

It's a pity because TMAU probably acts as a diversion from the real diagnosis and therefore any possible treatment. Perhaps the low choline diet is even detrimental as choline is quite important in bile flow etc. 99.99% of Doctors are unaware of TMAU but TMAU is the only metabolic diagnosis on offer. What's happening is that people have fecal and gas odors and end up with a TMAU diagnosis because no other metabolite is tested and their problem will be transient. 'Fish odor' I suspect may only be an issue in 'severe' cases. I also think most of us will be 'mild genetic' cases or even regarded 'carriers' but the small flaws make one liable to overload. There is probably a lose-lose situation with the gut flora (becoming sulfide and amine abundant). Then it's a case of constantly being close to overload. An expert described it as a 'mismatch'.

In my opinion the sooner we get on to the proper problem (sulfides and amines (of a certain structure) malodor) the better.

This is a speculative hypothesis by me and may be incorrect.
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