Blue Horizons Genetic Test Results.... Can anyone help explain what this means for me?

[jamjar67]

I’m just wondering if this suggests I should try T4/T3 combo - would these results be worth discussing with an Endo?

Also I have Mirena Coil and Oestrogen patch....maybe ditch the patch?

I know I don’t handle stress well and believe prolonged stress caused my Hashimotos...

The TSHR - is odd as I am Hypothyroid..?

Any suggestions what I do with this info greatly appreciated 🙏

I will type the results as the image is unclear and have only done

Amber and Red results.....

Gene - COMT - Inactivation of Stress hormone and Oestrogen -

COMT is one of the main inactivating enzymes of stress

hormones and oestrogen in the body. COMT variants cause

slow clearance of stress hormones and oestrogen leading to

high oestrogen and stress hormone levels which may also be

linked to thyroid hormone dysfunction.

RESULT - RED AA -

Impact and advice - Very slow (up to 4x slower than the wild "GG" genotype )

clearance of stress hormones and oestrogen. You may be at

increased risk of thyroid dysfunction when under stress and

due to poor elimination of oestrogen.

DIO1 - Thyroid Hormone Activation

“D1” is largely expressed in the liver and kidneys. It is

responsible for the clearance of rT3 from circulation, and for

facilitating the conversion of T4 to T3 in plasma and

surrounding tissue. This process requires selenium and iodine

for optimum function. Here we look at two variants linked to

poor conversion of T4 to T3 and reduced clearance of rT3.

RESULT - AMBER AA -

The 'A' result is not associated with increased DIO1 gene

function and is therefore not associated with high conversion

of FT4 to T3, or of reduced circulating rT3 levels. Ensure

adequate iodine and selenium intake to support this pathway

optimally.

RESULT - AMBER TC -

Likely to have lower DIO1 activity and therefore probably

decreased clearance of rT3 from circulation, and lower

conversion of T4 to T3. Ensure adequate intake of iodine and

selenium to support this pathway.

DIO2 - Thyroid Hormone Activation

“D2” is importantly expressed in the central nervous system,

pituitary, brown fat tissue and muscle, and responds to

changes in thyroid levels. D2 is responsible for the ‘local’

conversion of T4 to T3 in the thyroid, placenta and brain. It

requires selenium and iodine to function optimally. Here we

look at two different variants linked to decreased T4 and low

mood in certain individuals.

RESULT - AMBER TC -

The 'C' result is associated with anxiety and depression in

many cases in those taking thyroxine (T4) hormone

replacement therapy for hypothyroidism. This can be

overcome with combined T4/T3 therapy.

RESULT - GREEN TC -

The 'T' result is associated with increased DIO2 activity. This

has been shown to present as lower T4 and rT3, and higher T3

levels. Adequate levels of iodine and selenium are required

for optimal functioning of this pathway.

FKBP5 - Cortisol Regulation

FKBP5 is an important stress-regulating gene responsible for

lowering cortisol levels after a stress response. Variants are

associated with prolonged and increased symptoms of stress,

which may be due to delayed lowering of cortisol levels.

RESULT - AMBER CT -

The 'T' result is associated with impaired cortisol regulation

and lower stress resilience. You are likely to be more

negatively affected by stress and the impact it has on the

body. This includes the lowering of thyroid hormones.

Exercise has been shown to be effective in reducing the

negative effects of stress, and in increasing cell sensitivity to

thyroid hormones.

TSHR - Thyroid Stimulating Hormone (TSH) Receptor

The TSHR gene plays a central role in thyroid metabolism by

controlling the thyroid gland’s receptivity to TSH. Variants in

this gene have been linked to hyperthyroidism, particularly to

Graves’ Disease (GD).

RESULT - AMBER GA -

The 'A' result has been found to be more common in people

with Graves' Disease and is linked to the presence of thyroid

stimulating hormone receptor antibodies (TRAb), associated

with increased risk of developing GD.

[SlowDragon Administrator]

Looking at these and most recent Medichecks results,

healthunlocked.com/thyroidu......

yes looks like you need to try addition of small dose of T3

Are you on strictly gluten free diet?

Roughly where in the Uk are you?

Email Dionne at Thyroid Uk for list of recommended thyroid specialists who will prescribe T3

please email Dionne at

[e-mail]

[jamjar67 in reply to SlowDragon]

Thankyou for your response...

Yes I am strictly GF since diagnosis

I’m in West Yorkshire

Are the specialists private or NHS ? Do you think it’s worth me trying NHS??

I will email for the list...

I’ve been advised to try a loading dose of B12 for my weird head symptoms

Adding a bit of T3

My cortisol and DHEA were low when I last tested

And this test says I don’t get rid of cortisol or oestrogen...

My Dr said to stay on the hrt patch but I do get symptoms of Oestrogen dominance ie v tender breasts....is there a test I could do for this do you know?

I do get this weird temp feeling down my arms and in my cheeks, it’s hard to explain but it’s neither hot or cold, it’s a bit like the prickly feeling you get when you blush without the heat 🤔 I’m wondering if this could be linked to Cortisol/adrenaline...rt3....I don’t know....🤔. But something isn’t right...

[SlowDragon Administrator in reply to jamjar67]

Personally I never ventured in to HRT ....had enough trouble just dealing with thyroid!

Your test seems to suggest you are Heterozygous DIO2 and DIO1

So likely to need T3

I am Heterozygous DIO2. Adding T3 was transformation. More on my profile

Some consultants are NHS and private.....that's best option. See them privately to get initial trial of T3, then (hopefully) transfer to NHS once well and stable on T3

[jamjar67 in reply to SlowDragon]

Ok... that’s helpful...Thankyou.... my GP says she knows an Endo who will prescribe but obviously if I have to buy in the Uk it’s a fortune... I have been given info where I can buy without prescription but will the Gps Endos accept this 🤔 sorry for being thick!!...

Also...Your test seems to suggest you are Heterozygous DIO2 and DIO1....

What does this mean...

I’m just baffled by all this...,

I hope I have the same response as you to this addition of T3 ... I’d love my head and body chemistry to feel ‘normalish’ again 🤞🤞🤞

[SlowDragon Administrator in reply to jamjar67]

A private prescription enables access to cheap T3 direct from EU - Germany

31 Euro for 100 x 20mcg Liothyronine from Thybon Henning

thyroiduk.org.uk/tuk/treatm...

UK T3 is £206 per 28 tablets

Another option is for endocrinologist to prescribe 25mcg T3 - all 25mcg is non UK and therefore also very cheap.

Endocrinologist should advise on options they prefer to use

DIO2 gene variation is common genetic variation that you may inherit from one parent (Heterozygous) or from both parents (homozygous)

Homozygous means even more pronounced effect than Heterozygous

There's recent research that suggests people with DIO2 gene variation struggle on just Levothyroxine because we can't convert T4 to T3 in brain

thyroiduk.org.uk/tuk/testin...

To explain this paper briefly, the DIO2 gene activates tri-iodothyronine (T3) and the researchers found that a tiny fault in this gene could mean that although the body gets enough T3, the brain doesn’t.

The researchers found that patients on levothyroxine (T4) alone felt worse if the faulty DIO2 gene was inherited through one parent and worse still if they inherited the faulty gene from both parents.

The patients on this study were given T4 only for a set period and then combination treatment of both T4 and T3. The patients who had normal genes did not feel any different on combination treatment. However, those who had one faulty gene felt better on the combination treatment and those with both faulty genes felt better still.

This means that there is a possibility that patients who are on levothyroxine alone and still have symptoms may improve with the addition of T3.

Because this faulty gene causes a deficiency of T3 within the cells, the usual thyroid hormone function tests will not show up a problem. This means that your TSH, FT4 and FT3 blood tests will look normal.

[jamjar67 in reply to SlowDragon]

So that maybe why I still feel have this feeling in my head...., I just hope it’s reversible!!!!! X Thanks for that!!

[bookish in reply to jamjar67]

I know this is months ago, just searching COMT as recently tested and am homozygous myself. Your prickly feeling could well be adrenaline - have a look at beyondmthfr.com/a-genetic-c...

Oestrogen is also an issue with poor methylation (can be due to MTHFR variant, but not always) so have a read of purehealthclinic.co.uk/heal...

and yes, it is possible to test, see purehealthclinic.co.uk/heal... Hope things are improving for you. Best wishes

[Pascha1]

Some Endos take notice of these gene faults , but some are ignorant in genetics.. you have same as me a dio1 and Dio2 fault my Endo upped my T3 from 20 to 30 with these result, if you are not doing well on T4 mono, give Endo a list of symptoms and show him genetics he should add A bit of T3,it maybe worth asking to have a serum cortisol test done as well, The Dio2 is the main genetic to get T3 with,, I would ring endos Secretary up to see if he prescribes T3 or not , if he doesn’t research an Endo who does.. good luck , I felt better after having T3 added with same gene faults as you x

[jamjar67 in reply to Pascha1]

Maybe I need to do another post to see if anyone can recommend an NHS endo ..., it’s awful that it’s such pot luck!!!! Thanks v much for your reply x

[SlowDragon Administrator in reply to jamjar67]

Roughly where in the UK are you?

Email Dionne at Thyroid Uk for list of recommended thyroid specialists who will prescribe T3

[jamjar67 in reply to SlowDragon]

West Yorkshire but I cover the North of England for my job so could travel..... Humberside, Manchester, Wirral, Cheshire, Staffs, down to Derby, Leics, Lincs and everything inbetween!!!

[SlowDragon Administrator in reply to jamjar67]

Sorry don't know any in that area

Get the list off Dionne next week

please email Dionne at

[e-mail]

[jamjar67 in reply to SlowDragon]

Yes I’ve emailed x

[DippyDame]

The results given for this test are confusing....several members have noted this. I had this test about a year ago.

I would suggest you show this to your endo...however s/he may or may not accept it so be prepared for that!

Your Dio2 variant comes from one parent (heterozygous) so will have less impact on conversion than a CC result from both parents (homozygous) which I have.

The addition of T3 should be helpful but I would also suggest you optimise your nutrients if you haven't already done so... Folate, Ferritin, Vit B12 and Vit D

Adding a little T3 may also improve your stress levels and anxiety, which are frequently signs of undermedication.

It appears that you have problems with elimination of oestrogen so I'm not sure what benefit your patches are giving. My experience of HRT was short lived...more problems than benefit! Others clearly swear by It.

My Cortisol Regulation result was CT, like yours, and like you I don't handle stress well . A recent private test has shown I have a very low DHEA level (this does decrease with age and I am 73!) but when I mentioned this to my endo he suggested a slow synachten test to check my adrenal function. I am due to see him at the end of next month so cannot comment further on that one. You may wish to investigate this.

I'm afraid there is no quick fix but once you learn more the way forward becomes much clearer as does your chances of recovery.

I now self medicate and buy my own T3.....my endo (have only seen him once!) has neither diagnosed nor prescribed I asked to see him because I want my clinical need for T3 to be recorded in my med records.... in case I end up in hospital!

Eventually the NHS may prescribe my T3 but that can be an uphill slog so I bypassed the issue, although my GP at the time was kept informed of my maverick ways and seemed happy to let me carry on based on my personal research.

I note your comment "something isn't right"....it's one I've repeated for decades to various GPs who never found an answer. Only here at TUK did I begin to find an explanation, I'm not totally recovered but very much better than I was.

Incidentally, have you had a diagnosis of fibromyalgia or CFS? They were the diagnoses I was left with!

Not sure if this rant helps but wishing you lots of luck and better health.

DD

[jamjar67]

Thanks for sharing your experiences with me x. My cortisol and DHEA are on the low side but not at the level of CFS or Fibro....I have to be thankful for that!!.... My energy levels are not what they were up until my 50th...., 52 now....but I still work full time...

It’s a good point you make re seeing an NHS endo even if just to get my medical need for T3 on my records....

Thanks to this site it has led me to people and info which I would never have found and I’m so thankful and grateful for all the input and support 🙏...., it’s funny but when I was diagnosed all the Drs told me to stay away from this site!!!!

Anyway atleast I have this to try and so still live in hope that I can fix things 🤞🤞🤞

Thanks so much for taking the time to reply.

[Pascha1 in reply to jamjar67]

I took 100 mags of selenium it did help me convert T4 better but not enough as I had fibro pains before T3 was added

[jamjar67 in reply to Pascha1]

Yes I’m taking 200mg a day

I need to test my iron and D again but I’m hoping they are nearly there now....

Folate was good

B12 looks good but I’m supplementing and using patches so not sure if it’s getting where it needs to x