Faulty gene re decreased ability to generate T3

[Val26]

I've recently found out - via a private saliva test - that I have a faulty gene which causes decreased ability to generate the T3 hormone. I've been advised to see my GP and ask for a T3 blood test as well as two more to test for auto-immunity. Does anyone else have this faulty gene and, if so, have they any advice they could give me please? Many thanks.

[puncturedbicycle]

I'm afraid I don't have any advice, but I have an interest in this as my mum and I both have to supplement w t3 to feel well, even though we show no problem w conversion and have been v well-replaced on levo according to test results. I have no explanation for this and am even open to the idea of the placebo effect, but the way t3 helps is v concrete and I don't think I could wish it into existence. For instance, I retain water like crazy on levo alone, but on 10mcg t3, whoosh, I shed the water overnight. My hair was thin on levo and came back v thickly on t3.

I can't say how my good t3 result on levo doesn't help me but my good result w a little extra t3 does, but I wonder if there is some genetic issue that my mum and I share.

May I ask what prompted you to be tested?

[Val26 in reply to puncturedbicycle]

Hi, I was prompted to be tested after not feeling any difference being on T4. Have found out since through my own research that I was informed wrongly to ask for a T3 blood test because the decreased ability to generate T3 is cellular so it wouldn't show up on a blood test! For more details about the test go to the Thyroid UK site and click on the left side - Testing - then click on DIO2 gene testing.

[puncturedbicycle in reply to Val26]

Many thanks. I will screenshot this and save for later.

I think the reason people are often told to ask for a t3 test is because it's free if you're gp will do it, you can see immediately if it is low and you can try adding some t3. That is often an easy fix and people feel better. If they try the t3 w levo and no dice, they often go on to try t3 alone and ndt, in whatever order they prefer. People like you who have an issue at a cellular level may not find it helpful, but in the flow chart of thyroid hacks I suspect the t3 test as first line of troubleshooting helps 50-75% of people struggling on levo alone to find a solution.

Things would be different if the default testing method was genetic (as it someday might be) but as it is serum blood testing, the simplest thing is to approach the problem on that basis. Glad you did yours in what turned out to be the correct order for you. I hope it fasttracks your recovery.

[Val26 in reply to puncturedbicycle]

Thank you for reply. I guess in, say, 50 years time folk will look back in disbelief at the way thyroid insufficiency was diagnosed and treated!

[SAMBS]

Hi Val, interesting post, as is along lines I e been researching about my health history from a baby to now at 69, as several things make me think I could do with having a gene test - however I think it's about knowing exactly what you arelooking for in a test isn't it. I have 2 confirmed autoimmune diseases amongst other things. Do you know what the faulty Gene is or do you prefer not to say?

On more than one occasion the comment has been on my large blood tests, as to Afro/Antilles - African / Caribbean) origins/links. As far as I'm aware I'm 100% British - with a mix of Irish/Scottish/English genetic history, with a Scottish Father, English Mother and Irish in the Scottish greatgrandfethef and maternal grandmother blood line!

I also know there is a pattern to inherited blood lines and genes that goes from males to females. I have 2 sons and one had a mysterious episode that had him hospitalised when at University over 25 yrs ago. His wife several years later lost a babŷ girl at 6 mths gestation and they both refute my recent hypothesis on genetic inheritance! I have 3 of the same conditions that were listed as probBle cause on my fathers DC in '98. I was asked for permission to let them do a PM and he'd been in hospital a week, not a usual occurrence I believe back then. Back then I didn't know what I know now!

I think my problem lies buried somewhere in the lymphocyte/leukocyte T or B cells, but I could be, probably am, wrong! I see the haematologist soon and am going to talk to him about my theories. He was interested last year when I said I'd had TB neck op as a baby not long after birth....... (At that time I was due to see the Endo Consult following month, re my long Undiagnosed cause of cirrhosis).............cause of My RAF dad came back from Africa at end of ww2 and also had it. She, the Endo, wasn't interestedin the TB op factor) however - so at present still in Limbo!

So much for me to ponder and still make enquiries about!

[Val26 in reply to SAMBS]

Hi Sambs, the faulty gene is DIO2 and if you're interested about the test I had, go onto the Thyroid UK site and on the left side where it says Testing, click on and you will see DIO2 gene test. As far as I know this test was only found out in 2009 so still in its infancy and I doubt if any GPs or specialists know about it.

[SAMBS in reply to Val26]

Thanks Val, I'll certainly give it a look and add to my notes for the Haemo appt. Nothing ventured, nothing gained - as they say! If I remember or can find the post again, I'll come back on here and let you know what happens! By the way, I had forgotten to add the endo's words to me after not interested in tb and other links, had been " go and pay for a holistic expert". With that I was dismissed, so I haven't been back to her since!

The French medics aren't my favorite people at present!

pS I'll also see if it's relative to my Pituitary it could be a different faulty gene I'm looking for.

[Musicmonkey]

Hi there. I have a faulty DIO2 gene, causing poor conversion.

For me it has meant that I didn't do well on Levo - symptoms remained. I am now self-medicating T3/T4 combo (last few months) and feeling an improvement in some symptoms, particularly mood.

[Val26 in reply to Musicmonkey]

Thank you for reply Music. When you said you are self-medicating, do you mean your GP/endo didn't recommend T3?

[Musicmonkey in reply to Val26]

Val26 I tried and almost succeeded in getting a trial of T3 via an Endo, but then the goal posts were moved, i.e. CCG's restricted T3 prescribing, so I missed out.

As a result, I started self-medicating with a T3/T4 combination which is helping me to experience improvements that I didn't get on Levothyroxine only treatment 😊