This is a useful downloadable review which links different genetic situations to free thyroid hormone and TSH levels. It doesn't just cover DI02 mutations but many others which have an effect on sensitivity to TSH and on FT4 and FT3 levels, both absolutely and in relation to each other.
I was looking at this the other day. Lots of genetics to look at. I did make a start... But all these papers are not helping us when the criteria used to write guidelines is so limiting. Having listened to Kristien Boelaert’s explanations re the NICE guidance, she said NICE are not going to change their processes. So all this information is being ignored. How do we change this?
Perhaps if someone died clearly from misdiagnosis and mistreatment of a thyroid problem (i.e persisting with T4 only) a case could be made perhaps for medical neglect. Otherwise NICE are going to go with their guidance based on discredited clinical trials of T3 v T4 etc because they set themselves this severely restricted remit as the base for their decision making. Matters outside this remit are brushed aside as being "not in the format/remit" that NICE set itself to come to a decision even though they must have realised that trawling over te same old evidence once again is not going to come up with anything new. I fear that minds are so closed that retirement/death of this panel of thyroidologists is the only way out. However, I still think that developments in the USA might hasten things. The basic fact that current establishment thinking has to understand is the thyroid's direct and key role in T3 production in the body overall. If that is accepted, their whole argument collapses. The thinking is that the thyroid is essentially only a T4 factory under TSH control, and that any T3 produced is by the body only. That thinking simplifies matters so much that the establishment case is unassailable (if it were true). But it is not and only acceptance of the above new understanding will change things.
diogenes No one is likely to die with death being attributed to thyroid directly. Making it almost impossible that any medical neglect case will ever take place. Death will be recorded as the consequential ailments, heart disease, diabetes or such, so well hidden disguised mistreatment of thyroid disease. Hypothyroid is the invisible disease. We are easy targets because the reputation the media portrays. Manic, depressed, overweight, middle age menopausal women...who cares?
And hypoT is deemed to be the easiest of conditions to treat, test Tsh, give t4. Because it seems hypo is not well researched. Most research is Hyper/cancer based. The people making the big decisions being made by people who deal with these conditions and only see hypo as a result of RAI or TT. They don’t really understand the impact that HypO has on patients. KB said secondary is from the pituitary. And this is extremely rare. But is it or is it just not looked for? How many of us have complained for years that t4 is not working for us, and been told our continuing symptoms are not due to thyroid. What else do they test? They might retest TSh/t4 and repeat - ’normal no further action’. They don’t think ‘well ok this blood shows normal thyroid so what else could be going on?’ They just tick a box and ignore.
Example. Back in 2003/4, having fought for 10 years to get a diagnosis and then been on T4 for 10 years, with increasing and worsening symptoms of CF, Fibro and Migraine, recorded on GP records as TATT, aches/pains and headache, my TSH dropped very low. Unbeknown to me, until about 2 years ago, they tested my FSH and LH, both of with were extremely low also. Nothing was done, this was not reported to me or ever retested, that I can see. I didn’t even know they were doing these tests. I tried to ask my current GP about this when I found it, he avoided me for weeks, even missed a telephone appointment, I made when he was not returning my calls. Until I made a call and said I was not out to cause trouble just wanted to understand what it meant.
I was told that is was dismissed as I was on the pill at the time and it was deemed that this had caused the fall in levels. However, my TSH remained very low up until about 2 years ago when it started to rise again. The FSH/LH were not rechecked. Smacks of incompetence.
Kristien Boelaert at the meeting at the weekend, kept repeating that they can only recommend on the basis of the reviewed evidence base. When the suggestion that maybe the criteria for this evidence base needs to be addressed and amended we were told that NICE won’t change their process. Why not, when it is not fit for purpose? Probably because it is geared towards cost effectiveness. Cost effectiveness based on papers that have been applied to the the NHS setting. Maybe these need to be looked into. This is peoples lives being affected by them. And they don’t take into account the cost effectiveness of people who do not fit into the NICE boxes.
Something else she said is that good Drs would know not to be tied by the guidance. But as most already adhere to the ‘non recommendation of issue of T3 or NDT’ I’m pretty sure that most will accept this guidance as how to treat all hypo.
I’m not sure that the death/retirement of this panel will change anything - newer generation being groomed into the same old corrupt thinking. I’m reminded of Seamus O’Mahony’s Can Medicine be Cured. Corruption so engrained through the generations.
I think you're right. The problem isn't just professional pig-headed pursuit of an incorrect paradigm. The corruption of medical ethics in the service of cost-cutting is key here.
I'm now fairly sure that my first signs of "low T3" started about 50 years ago - I've heard others say much the same. Medics failed to find a cause but overtime diagnosed FM, CFS and hypo.
I tried numerous treatments and remedies to no avail, although ten years of almost weekly CranioSacral therapy helped me to plod on!
Twenty years onT4 did nothing to resolve my ever increasing symptoms until by age 69/70 I could barely function.
In desperation I took control, as many of us do, with private testing and self medicating. I am Dio2 homozygous...so very poor conversion. I have a form of Thyroid Hormone Resistance and spend a fortune on T3. I saw an endo only briefly....members here are hugely better informed!
I am very slowly recovering but I'm beginning to think too much damage has been done over too many years to restore the health I would otherwise have had.
I've just found a paper which throws light on what Dr Skinner,Dr Peatfield, Dr Lowe et al had already worked out....and what many of us, from experience, can vouch for.
Briefly...
There is a higher prevalence of "Low T3 syndrome" attributable to a sub-group of patients with CFS
I am just about to post it.
I am sure that it is/ will be disregarded by medics because like so much else it doesn't fit into their tightly sealed "rule book".
My maternal grandmother was bedridden for years with pain and fatigue, diagnosed as having Fibrositis (now Fibromyalgia) ...she died a long slow death. I believe she was a happy, fun person, but sadly I only remember her as a complaining old lady. Her daughter, my mother, I now suspect suffered from hypo/low T3, she died when I was 29. I inherited the Dio2 snp from her (and my father)
I also share another genetic deletion with my elder son and his younger son!
Perhaps the answer lies, at least partly, in extensive genetic research....until the research field is widened I can't see much advancement.
Obviously I don't know how this clinical neglect can be resolved but it seems that the future (as the past has been) is bleak for people who, for whatever reason, are unable to take control of what can be a long, lonely and expensive "digging process".
The "old corrupt thinking" as you say, seems set to perpetuate.
££££ - money in symptoms, money in keeping us ill. No money in well people.
You sound like me, I know I had problems growing up, Always cold and lethargic, lacking energy. Give me a pencil and paper and a seat by a fire, rather than a coat and wellies. Hated sport and no energy to run. And too cold most of time. Still do. Could not get into a swimming pool, even in summer heat when in Florida - could not breath. Felt too cold.
Fainting from about 11yrs. Once, at exactly the same time as an older sister (who developed Graves) We were in church at the time. My dad thought we were putting it on, till Mam pointed out the colour of us both.
Saw as specialist at 18/19yrs, fobbed off for 2 years, couldn’t make minds up sent me away. Took another 10yrs to get a diagnosis, despite symptoms and blood checks. 20 years on T4, constantly saying not working being told not my thyroid, as bloods ok. Gradual build up of Fibro, CF and migraine, being worst symptoms, with foggy brain and memory loss. Until could not work.
Eventually thanks to Dr P and a supportive GP (sadly now retired) got onto T3 mono. Combi didn’t work either. 10 years now on mono. Would not touch T4 again.
I have inherited one of the significant snp in DIO2 gene, but others in DIO1 and 3. lots of others that impact, such as VDR. Lots of genes seem to have some sort of ‘thyroid’ connection...not rocket science.
So don’t know what my conversion issue really are. Adrenal maybe? TR - how do you get thyroid resistance diagnosed? The SpinaThyro algorithm using the only bloods when on T4 but not on T3 which include FT3 test, back in 2007, showed some odd results, but indicated to Hypothyroid Graves. Not really sure what that is. But always felt levels fluctuating, energy one min floored next - erratic and intermittent.
A real worry for our children and future generations. My younger son (now mid 20’s) has already had problems with adrenals that his GP would not acknowledge, despite him being sick and having horrendous CF and rashes setting off eczema, that have impacted heavily on his life chances and his wellbeing. He was on a scholarship when he was first hit with what we suspect was Glandular Fever but not diagnosed in time, plied with antibios. Took him see Dr . TG. Who helped get him on the right road. But his Uni studies also impacted.
Where are the new generation of Dr P’s Skinners, Lowes and Myhills? We cannot do this alone.
Look at Thyroid Disease. Hyper =5% Hypo much much more, even those of us needing t3 are probably twice the cohort size of Hyper. And not dissing Hyper in anyway! But look at the research focus - how much on hyper how much on hypo. Largely because the view is Hyper is easy to treat by destroy thyroid make hypo give T4...job done. There is not even any current follow up research on patients beyond this. Tho it may be in pipeline. Where is the research on hypo? Too complicated to do? Focus is on primary - hypo and hyper. Secondary is considered to be hypopituitary only. Those of us left, not diagnosed with hypo pit as considered so very rare...IMO not looked for, are left with nothing not even recognition. Where is the guidance, the pathways to move testing on?
And suffering from being subjected to an engrained assumption that hypo is easy to diagnose with Tsh and treat with t4.
And decisions made by people with little knowledge in that area.
Interesting - especially the part about different tissues expressing a gene differently, so it's possible to be hyperthyroid in one and hypo in another (especially the brain).
Both hypo and hyper can exist together. But what drs really understand that? I’ve had a dr in recent years, tell me that my fluctuations from hypo to hyper can’t happen ‘the thyroid does not do that’. Not from what he learnt from his half hour lecture, if he even attended that. Spina thyro indicates (from 2003 bloods before t3) Hypo Graves. Kristien Boelaert did not know what that was.
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