new girl from dublin

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new girl from dublin

Postby tupence » Thu Sep 06, 2012 9:50 am

everyone,
Last edited by tupence on Wed Jun 03, 2015 9:17 am, edited 1 time in total.
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Re: new girl from dublin

Postby bigvern » Thu Sep 06, 2012 4:15 pm

hi tupence & welcome :D

type dublin into the 'search' box in the upper right corner of the screen and you will find something that may help;;

d it?..Were you referred to Dr Eileen Treacy in the National Centre for Inherited Metabolic Disorders at the Children's University Hospital Dublin? I hope you find a nice gal in Cork soon...An avid vegetarian would be best :D kcx
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Re: new girl from dublin

Postby robert123 » Thu Sep 06, 2012 10:44 pm

Hi Tupence (not a silly name btw),
I'd like to share my experience if that's ok, I'll put it on here as there's a question I need to ask that hopefully someone will know. Anyway like you I've had this for many many years. I suffer from a range of
extremely unpleasant odours including fish that can be smelled from a long distance away. After stumbling across an article on tmau I thought wow that must be whats wrong with me. I found Prof Eileen Treacy at the Crumlin
Children's Hospital on google and asked my gp to send a referral letter. (He was reluctant to do so as he didn't think I had tmau but did so anyway). My appointment came through so I went up there, provided a urine sample ( should say the test was free btw) and then went back six weeks later for the results.Actually I saw someone else from Cork on a different orum say that he only had to give his gp the sample, didn't have to go to Dublin himself so I don't know iis it necessary to attend the hospital or not. both times I meet with this doctor first and Prof Treacy came in a bit
later. I have to say I found both of them very pleasant and professional people, honestly you have no need to feel apprehensive if you get to see them. The one problem I had was that neither time were Prof Treacy or her
colleague able to smell me and believe me I get bad reactions throughtout the day everyday (typical the one time I wanted someone to smell me they couldn't).
Anyway my test came back as negative which shocked me alright. Prof Treacy said the results weren't even borderline. The one issue I have with the test is this. For my urine smaple I just had to fill up a small test tube provided at the hospital when I got there. But a British friend of mine said that when she had to provide a urine sample for her tmau test in the U.K. she had to fill up a large container with urine collected over a full day. I'm wondering how significant is this, how can one test demand a one off small sample of urine while another was a day long event? If anybody has some insight on this I'd really appreciate it.
Anyway that's my story with Prof Treacy, would love how to hear how you get on Tupence if thats ok and good luck with your test.
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Re: new girl from dublin

Postby PoetFire » Thu Sep 06, 2012 11:43 pm

Unfortunately I heard that Dr Treacy no longer sees adults for TMAU, but if you contact her she will write to your GP (or something similar) to ask them to order the test on your behalf. I don't know why the change happened. Maybe too many adults were asking to be seen (it's a children's hospital). The sample is sent to Sheffield same place where UK samples are sent.

Re the testing protocol, it does seem that Sheffield suggest a collection of urine is collected for say 12-24 hours then you siphon off a tube's worth into the tube and write how much was collected. In theory I think you could do a 'spot test' too (which is much easier of course) as long as lab knows it is a spot-test and not from a collection. Whether one way is better than the other, I don't know. Though I think it seems the collection type would be preferable.
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Re: new girl from dublin

Postby PoetFire » Fri Sep 07, 2012 1:34 pm

there is a page on this site that has a written explanation by the Sheffield tester on how to prepare a sample
http://tmau.org.uk/index.php/getting-tested
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Re: new girl from dublin

Postby robert123 » Fri Sep 07, 2012 10:53 pm

Thanks for the info Poetfire,
That's v disappointing news alright that Prof Tracey no longer sees adults. It's a pity that there is not one standard procedure for testing tmau, I've read as well sometimes the results themselves can be open to interpretation. Like if you get a test done at an American clinic they might say you have tmau depending on what range they assess it at while a British one for example might not. Also I hear there are an awful lot of false negative results which I really feel is what happened to me. It just goes to show there is still so much more to be discovered about tmau and similar conditions.
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Re: new girl from dublin

Postby PoetFire » Sat Sep 08, 2012 12:29 am

Yes thats right, the labs have differnet ref ranges which makes it very disappointingly confusing. Possibly because so few many test they can all set their own ref range.

There are 2 things to consider : tma concentration and the % of tma oxidized to tmao

Most seem to only test the latter and do not include a tma concentration ref range.

Sheffield do both but in my opinion they have their tmao % bar set too low at around 80%, meaning it is easy for someone to pass as 'normal'. I read on the Phillips/Shpehard NIH article that the bar should be set at around 90% and personally I think a normal person should really be around +95%

Diagnosis of trimethylaminuria is based on one of the following:

Percent of total trimethylamine (TMA) (i.e., free TMA plus the non-odorous metabolite TMA N-oxide) excreted in the urine as unmetabolized free TMA [Cashman et al 2003, Mackay et al 2011].

Severe trimethylaminuria: more than 40% of total TMA excreted as unmetabolized free TMA

Mild trimethylaminuria: 10%-39% of total TMA excreted as unmetabolized free TMA

Unaffected: 0%-9% of total TMA excreted as unmetabolized free TMA

http://www.ncbi.nlm.nih.gov/books/NBK11 ... .Diagnosis


So with the Sheffield test, if someone has a ratio of >0.10 they would be 'positive' in the ref range suggested in the quote.
Personally I think a normal person should have a ratio of around <0.05

Arkansas do not test for TMAO and only go for concentration. Their level is :
<6.7 for normal

Sheffield have a concentration level at <10.9 for normal

So Arkansas is probably the easiest place to get a positive but they cannot tell you if it is TMAU1 or 2 without TMAO being measured.

Its a very unfortunate situation for us meaning many may be 'false negatives' and making it look as if it is a rare disorder, which I do not think it is. Also I think the disorder should be called FMO3 deficiency or overload rather than TMAU. It just happens that TMA was tested for and no other metabolite is tested.

It would be interesting to hear if any out there had ratios of tma/tmao with the Sheffield test had a result between 0.10 and 0.21 out there and were told they were normal. Using the phillips/shephard suggested ref range they would be positive.
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Re: new girl from dublin

Postby timid » Sat Sep 08, 2012 8:00 am

Yes Professor Treacy no longer tests adults, there will be testing for adults again but it will be at the mater hospital, but her secretary doesn't know when, and they will take your sample in uk if your gp sends it over, but my gp doesn't have the equipment to send it in apparently it needs to be frozen? He phoned Treacy's office to ask if they would lend the equipment to send it in, but the secretary said Treacy will call him back, but she has not, so the only other option is for me to go to uk and get the test there :( So i feel fed up with this condition and the horrible isolation it makes me feel, and i'm struggling to get back out to work, it's a nightmare to say the least..
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Re: new girl from dublin

Postby PoetFire » Sat Sep 08, 2012 5:13 pm

That will be good if they start seeing tmau patients in the adult unit. I have a feeling too many were contacting Dr Treacy (it's classed as a 'rare disorder' but probably isn't rare) and so they are looking to make it something an adult metabolism unit can deal with. In the UK many adult metabolism units now see TMAU patients (though to be honest the patient probably knows more than the unit). Still it gives us a contact in the medical field.

Re your GP and TMAU testing, I would show your GP this :
http://tmau.org.uk/index.php/getting-tested
It's written by Nigel Manning and seems to have been given to the website manager

It says it does not need to be frozen but should get there overnight (although I vaguely recall being told a couple of days was ok due to the HCL)

It needs to have HCL added to it, and the test kit is apparently similar to the 'calcium urine test' which your GP may be familiar with (?). The idea at the moment is that the GP or local biochemistry dept supply the kit.

Apart from that it does not need special care.
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Re: new girl from dublin

Postby PoetFire » Sat Sep 08, 2012 5:15 pm

Perhaps someone could ask Dr Treacy if her dept could supply the kit to GPs (for a small fee ?) since they are not familiar with it. Dubliners could even collect the kit from there too.
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