DNA testing

help with getting a diagnosis

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Re: DNA testing

Postby PoetFire » Fri Jun 01, 2012 11:56 pm

I think this letter best explains most of us, but would use TMA only as a biomarker of FMO3 function, rather than the cause of the odors. Perhaps TMA may be a small part of the malodor, or maybe even not at all.

"Over the past decade we have encountered many patients who have odour problems on a mild, transient, and periodic basis.3, 4 These otherwise healthy individuals are presumably heterozygotes, or compound heterozygotes, who can cope with the daily burden of trimethylamine, but have little, if any, reserve capacity when stressed by other factors and may fail to metabolically remove trimethylamine.5 To raise the general awareness of this disorder and reiterate that it “is not merely a rare recessive disorder but rather a spectrum of phenotypes of transient or mild malodour” is important,1 but it is also imperative to realise that fish-odour syndrome is not a simple genetic problem and that heterozygotes (carriers) may have to endure a transient and more elusive form of this complaint initiated by various, less obvious, and more ephemeral, factors."
http://www.thelancet.com/journals/lance ... 40-6736(05)77067-7/fulltext
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Re: DNA testing

Postby bubbles » Sat Jun 02, 2012 10:57 am

Hey P,

You have obviously given this a lot of thought and seem to be very knowledgeable, I think our theories hold weight, as we are the ones experiencing the awfulness of the condition and therefore have first hand information of what aggravates it or what seems to help. I have to say in my own experience the low choline diet is helping me. I the past I experienced the decaying fish/ meat smell just a few times, I would love to win the lottery and give a large part of my winnings over to research in this field!!!! Instead of having this blow up every few days, I now have 2 to nearly three weeks were things are okay, so that in itself is an improvement.

Though I do worry about my body and the effects that being on a low choline diet (for a long time) will have and I think the medical community has kind of left us in limbo, surely there is some alternative out there if only they would take the condition seriously and invest some money into exploring possible causes and treatment. My major concern is my lack of calcium as I have had a really sore upper back this last few months and worry this could be linked to a lack of calcium for my bones but maybe I am just putting 2 and 2 together and coming up with 5.

I really do feel this disorder needs to be given more prominence although no one is going to die directly from it, the psychological effects are devastating and it really is a life disruptive condition having a major detrimental effect on self-esteem , confidence, relationships, career and the ability to be happy and live in the here and now. I would say quite a number of people living with this are dealing with huge levels of stress and anxiety, depression and perhaps at its very worst in some cases, even suicidal tendencies. Not only that, it is a very costly disorder having to buy the charcoal, chlorophyll, probiotics, B2 without any financial assistance and probably the worst thing of all is that people assume you are crazy , doctors included and I certainly feel that if someone had taken my concerns seriously and not dismissed it as just OCD or it's all in your head I wouldn't have had to live through so many years of hurt and shame because personally that is what I experienced, I cant speak for anyone else as I know our experiences of having this disorder varies according to each individual.

That's my rant over, I suppose I would just love to see something done because I really wouldn't want anyone else to have to go through what I have had to. When you are young and your whole life is laid out before you, there seems to be endless opportunities and dreams to conquer, I certainly never thought I would have to contend with a beast like Tmau and have some of the above wrestled from me, I also hate the lack of self control associated with this I don't like being unhappy, anxious or stressed out or negative but sometimes during the bad times I go through all of these and I really hate tmau for that, but I suppose many people besides TMAU sufferers have had to deal with many unexpected and horrific things in their lives that they could have never foreseen so I try to take the attitude now I have it, I wish I didn't, being angry or frustrated isn't helping my mind or body so when I am down and something hasn't worked, or gone wrong odour wise, I think what can I do now, what other avenues can I explore however I do think that the angry and frustrated part is a stage that I had to go through and is perhaps natural whenever you know or find out there is something wrong. Bubbles. X
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