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My Story

PostPosted: Sat Jun 10, 2017 4:34 pm
by sacrosanct
Hi Folks,

I have actually been around this forum for 7 years. I used to have a different username, but have decided to post under this one from now on (I forgot the password and no longer have the email address). I realized I haven't actually told my story, so for anyone who sees my posts on the forum and is interested exactly who I am, I'm leaving this here for you to read.

When I was about 4/5 years old and in the infants, other parents and the teachers mentioned to my mum that they had noticed that I smelled sometimes. One parent described this odour as that of 'fish'. My mother, highly confused, could only assure them that we didn't even eat fish at home. In fact, she was more concerned that she thought other people thought we did not practice good hygiene, more than there actually being something different about me. In all fairness, she couldn't smell it, and would offer me up to close relatives for a good sniff, to see if they could notice anything.

This went on for only a year or two, then as quickly as this issue appeared, it also disappeared.

I had a normal childhood and life after that, right until the age of about 20.

I had been to university for a year at the age of 19, with no issues whatsoever. Then dropped out as I didn't like my course.

I subsequently got a job and worked there for about 12 months with no issues at all. Then I went on holiday to Malaga on a stag do. While on holiday they guys I was with said they noticed a bad smell. It only lasted 3 days, and I went back to work like normal on my return.

I then decided to return to university. It was at this point that others would notice a bad smell emanating from me. A smell that I could never smell. Given that I lived alone, I assumed it was probably something to do with where I lived and that living there I had just gone noseblind and was filtering it out. I changed carpets, changed washing machines, changed clothes. I did everything I could but couldn't get stop the reactions to me.

I eventually moved and lived in student halls. After a few weeks, I overheard a conversation by my flatmates where they were deciding whether or not to flag up my 'personal hygiene' to me. I got in the shower religiously and wore freshly laundered clothes every day.

Since that time I have suffered with some form of odour. I am now 30. I have been tested for TMAU, and the results indicated a TMA -> TMAO conversion rate of 70%. The result are floating about on here somewhere. The actual TMA/TMAO levels were quite low. I have been told this indicates a TMAU1 diagnosis. I have been seen at several clinics, mainly the Metabolic/Lysomal/Endocrine Dept at Cambridge Addenbrokes.

I'd like to hear from other's with a confirmed TMAU1 diagnosis. If I had suffered from this all my life, I could understand the diagnosis. But I am a little confused at to why, for 15 years of my life, I was completely asymptomatic.

At the minute, I am just finalizing my PhD thesis, ready for handing in around 6 months from now. I am awaiting to be seen at a separate clinic where hopefully I'll be able to get my genome sequenced and the TMAU1 diagnosis confirmed.

I have tried many things to alleviate my symptoms, but I can honestly say none of them have really made much of a difference. I'll probably create a thread at some point to list what I have tried, and the results.

Hope all is well,

Re: My Story

PostPosted: Tue Jun 13, 2017 12:52 pm
by sweatybetty
Hi Sacrosanct

It is such a damn frustrating condition

My urine tests(8 results from 2014-2016) were v indicative of TMAU1 and I eventually had the DNA test which came back negative. This does not seem that unusual as many people with strong TMAU1 result test -ve for TMAU DNA test. I still believe there must be a genetic component (family history of odour problems) - maybe the sequencing test used did not investigate all options for faults in other genes /pathways that cause the odour. I don't have a strong science knowledge so bit weak at the technical explanation.

Have you tested recently i.e. 2017 as it seems that the new assay used by Sheffield is not delivering many +ve results and this has caused a good deal of confusion for me. I had never choline loaded in my previous tests yet they showed definite TMAU. however I did do a choline load for the 'new' test in 2017 and the results came back negative which given the history of 8 strongly positive test is extremely odd.

Re: My Story

PostPosted: Sun Jun 18, 2017 9:10 pm
by PoetFire
Betty ...

re DNa test
you are right to have concerns.

FMO3 gene is like this :
532 coding sequence.
promoter region etc (i.e. important foundation parts for the coding part)
junk part

At the moment for any gene the labs only test the coding part.
so for FMO3 = 532 coding part.
but you can have faults in the promoter region etc, or even junk part, and these can cause output issues.

Also, the lab 532 results can be shown in this way :
1. the lab techs interpretation, pointing out 'variants' that they think may be an issue
or
2. told of all variants

at the moment almost all labs do option 1.
in 95% of cases this is probably enough, but who knows.

- - - - --
re new Sheff tmau urine results
surprised to hear they get less +ves now.
could you say where you heard ?
their new ref range is much more 'liberal' (or to be precise, more closer to the consensus then the old conservative ref range).
So i would expect more +ves. Maybe 20% more.

Re: My Story

PostPosted: Sun Jul 09, 2017 3:09 pm
by sweatybetty
Yes Poetfire

I understand your point re the more liberal test ranges at Sheffield and yes it would suggest more positive tests.

As there were problems with the assay at Sheffield I finally received October 16 test result in Mar 17. As I noted it was normal although I have a history of 8 positive results under the old system with most of these results indicative of TMAU1. I had even choline loaded for the Oct 16 test (not eggs but salmon - although I note with interest sacrosanct's latest input on fish re the choline load). Thus I was astonished to have such a normal result. When I indicated my surprise the dietician mentioned that they had not at that time i.e. Mar 17 seen a positive result using the new test method. This seemed really strange - by Mar there must have been quite a few test coming through from the backlog of Oct 16-Feb 17 when the testing was down and some of these must have been from people like me who had a TMAU + history.

I questioned whether there could be any issues with the new test and my understanding (I could be wrong here) was that the results were not being checked re the old test to ensure accuracy of test result. Frankly I do not understand enough about the testing process to explain this well.

I will probably receive my Mar test result soon so am interested to see what this will read. Also I am going to try to find out if they are seeing an unexpected level of -ve results given the more liberal threshold for a +ve.

Re: My Story

PostPosted: Sun Jul 09, 2017 3:41 pm
by PoetFire
I agree it's odd.

The 2 parts of the test are :

1.the method (i.e. the physical test in the mass spec).
Nigel used GC/MS, and I think his own method to get the curve or whatever.

the new team are using GC/MS as well, but a method for the curve devised by a previous reputable method documented.

2. The ref ranges
each lab decide their own ref range.
Nigels was quite conservative imho (harder to get a 'fail')

The new lab seems to use the same ref range as Heidleberg lab, imho much more the 'consensus'
e.g. about 10tma and 90% oxide.

I have a feeling their new 'method' is for some reason not showing up as many 'positives' as the old method.
The new team arent as 'community friendly' as Nigel (who was lukewarm but did a bit), so for now it seems unlikely we will get stats made public etc (which would be important for awareness imho)