Hurrah I'm defective!

[Airmed]

This is the only time I'm glad that something isn't quite right. Not rare, nor unusual but non the less not right. Have just had DIO2 test results back which confirms polymorphism and better on T3/T4 combo. I'll stick with T3 only. Will give GP a copy of result. Hopefully more ammo in case our CCG decide I don't need it. I'm sure all of you in the know will burst my bubble as I haven't started researching it yet but for now am convincing self that everything is going to be ok and celebrate with a glass of wine.

[helvella Administrator Thyroid UK]

I assume this was a private test?

Have a look here:

theguardian.com/science/201...

[Airmed in reply to helvella]

Hi Helvella, yes it was Regenerus Labs

[radd in reply to helvella]

Helvella,

I am all for genetic testing (if affordable) as there are specific physical conditions (and cognitive patterns) associated with various genetic impairments, allowing better diagnosis and management.

However, the results are so dependant on other multifactorial conditions, that getting these understood is probably the biggest obstacle.

[fortunata]

I have the same gene molymorphism and my endocrinologist has prescribed me 40mcgs of T3 because of it. I feel SO much better on T3.

[Airmed in reply to fortunata]

Hi fortunata, going over to T3 was a life changer for me. I sincerely wish it wasn't given problems with cost and secure supply of T3 and no thyroid. I feel like I did before thyroidectomy. Having read papers yesterday on how this DIO2polymorphism works and which parts of the body are affected left me shocked to say the least. I am now even more +ve that if further clinical studies were carried out using a cohort of genetically selected people the results could end up with patients being given a tailor made dose of medication be it T4, T3 or a combination. My world through rose tinted glasses works for me anyway!

[fortunata in reply to Airmed]

What were the papers you read? I'd be grateful if you could post a link to them. X

[Airmed in reply to fortunata]

Sorry for not replying sooner You must think incredibly rude, I volunteer for a charity, only just got home after a serious shout and incredibly tired will send tomorrow. Sorryx

[thyr01d in reply to fortunata]

Please, would you tell me what made you suspect this? I'm wondering if I do because of the way my father was - overweight though he ate little, thin hair, facial colouring that used to be used as a diagnostic tool and distant which I now think was because of an inability to remember much about us even when he was young!

Although, on Levo, my TSH and T4 results look 'fine' T3 is relatively low, bottom of the range. Would you know if this is any kind of indicator? Or perhaps makes it less likely to be the gene?

[fortunata in reply to thyr01d]

Don't know if the question is directed at me but I got worse and worse on doses of Levothyroxine up to 200mcgs. I carried on putting on weight, was freezing cold, hurt everywhere and couldn't string two thoughts together. It was when my TSH level hit 9 while on 200mchs of Levo that I decided to self treat. I suspected the Levo was swilling around my blood and not getting into the cells so I decided to pay for the DIO2 test. It came back showing I had the polymorphism.

[fortunata in reply to fortunata]

Sorry... 200mcgs!!

[thyr01d in reply to fortunata]

Many thanks, this is helpful because it suggests I don't have the faulty gene, my TSH goes down.

[Airmed]

Regenerus Laboratories not sure whether am allowed to put their phone number but will PM if you like. It costs £60 for the test. They send a sample kit, you spit in the funnel which leads to sample tube. When your sample is up to the line you close the funnel lid which releases some other fluid into the sample then you apply screw lid. So easy to do and then post back. For another £60 you pay for a counsellor to give you results. I did question that as the results were not going to shock me, not like some genetic diseases. But is required by law with any genetic testing. However, you can have the results sent to your own doctor. I was going to do this at first then thought if I'm normal then it may be an own goal so to speak. Instead I asked a friend who is a retired GP if he would "counsel" me and accept the results.

[helvella Administrator Thyroid UK in reply to Airmed]

You are welcome to put their number.

[Airmed in reply to helvella]

Regenerus Labs. Phone number is 02037500870 the one given on one of the thyroid sites, can't remember which one, is no longer correct. The number does answer and will give you above number. The staff at Regenerus are also very helpful.

[silverfox7]

I posted something, not sure where, about looking for this gene or rather confirming I hadn't got it but I asked about the best testing. The better value for money was I think called 123and me or something like that but I'm not sure I want to know everything. I'm still dithering!

[Airmed in reply to silverfox7]

Hey silverfox7, you won't get that lucky for 60 quid at Regenerus. If you request the DIO2 test that is all they test for. If you wanted anything else tested you would have to pay for it. I read about 123andme briefly do they do a complete genetic profile? Am guessing but you would definitely need a professional to interpret those results. I didn't have much time to look at different companies and compare prices.

[helvella Administrator Thyroid UK in reply to Airmed]

Not complete - but a large number of tests.

[helvella Administrator Thyroid UK in reply to helvella]

And no need for counselling.

[DanteNXS in reply to silverfox7]

23andme.com/

$199 for 60+ genetic results

[OzoneGirl in reply to DanteNXS]

£125 in UK

[helvella Administrator Thyroid UK in reply to OzoneGirl]

And certainly more than 60 tests:

23andme.com/en-gb/health/re...

[silverfox7 in reply to DanteNXS]

Well it's a good price for what it does but....,, I can't select what u want to know as don't know of anything that could be there and I'm a born worrier so is this the sort of thing I should be doing. Sometime I think go for it then later I thing frightening! The only thing that seems to pass down my tree is TB but I imagine every family was touched by that and meningitis though seems to have missed my generation.

[Airmed]

You will have to ask them. I'm sure mine would as she has been very supportive. I don't know is the straight answer. It doesn't matter what comes back on the report the law states that you have to have "counselling" regardless. Before any genetic result can be issued whether it's +ve or -ve. That's what they told me anyway. I suspect it's only a 5 minute phone call though, but am not sure.

[silverfox7]

Yes I worried about doing the whole hog on would I understand it and do I really want to know. I'd like to take to someone in the uk who has had it done as I've a feeling they will explain more but at a cost!

[Airmed in reply to silverfox7]

Why don't you just get tested for things that you do want to know about rather than complete genetic profile.

[TupennyRush]

Welcome to the di02 gene defectives club (of which I have just elected myself president). I take the paper that says we do better on T3 combo to any and all endo appointments. I take ndt rather than t3 because it works for me (loads better than levo).

I found that levo made me feel better than I was (and after over 6.5 years of failure to diagnose I was at just about existing level) but not well. When I started on ndt I had a huge lifting of brain fog. That I hadn't realised that I still had, which means that pre levo I must have had rhe brain of a petunia, got up to monkey level with levo and then back to human with the ndt

Congratulations as it does give extra weight to keeping your t3!

[Airmed]

Thank you Ms president I do hope the gene defective club serves a good afternoon tea or I won't join😄. I asked my endo for NDT and she nearly had a cardiac arrest and said she didn't believe in it. That may be true but it wasn't she who had been living like a petunia for the past 5 years. I think I may have got to the pre pubescent monkey stage on T4 when she offered me 10 mcg of T3, largely I think, to get me out of her surgery with a final one liner of "don't be surprised if you don't end up in A&E next week with cardiac arrest". Nice. We got along much better after she saw an improvement in self but bloods abnormal, there's a surprise, not. Nor did she stand in the way when my doctor informed her that I had changed over completely to T3. Frankly I still believe I would be better on NDT but I feel so well now I don't want to mess about with meds. I have spoken to my doctor about the Dio2 results and she is going to copy them into my medical records. I have also attached a paper I found explaining the polymorphism and how it affects the DIO2 gene. Could you please copy me the paper you have found in case it's better than mine. It's not exactly bedtime reading is it.

Very best wishes

Defective minion.