Hey, it's me again. The girl who's totally unable to tolerate and respond to oral thyroid meds - bizarre immune problem (poss MCAS related).
I am in hospital again after reaching out to the only endo still in contact with me who is definitely quite sick of me pushing the issue. He knows I am adamant I'm hypothryoid, but upon admission I was told they are going to look into other causes because my thyroid levels are normal.
This is how this will likely go - they're going to find nothing and misdiagnose me with chronic fatigue or say yet again this is psychosomatic even though I've showed pictures of my facial changes and drooping eyelids, and my weakness and slowness of movement is chronic, and I've described how I feel like as if I am slowly dying. I've been hypothyroid and untreated for nearly 3 years so you can imagine.
The silver lining is that the immunology team will be sent to me.
Conversation yesterday with endo goes like this -
him: your free t4 is 17 (rr 12-22)
me: but before, I proposed to you that there is a cellular metabolism issue possibly stopping the hormones from entering the cells and you said it was possible but rare. why do you not think that's possible any more?
him: because we've tested your selenium which is normal. you can have acquired deoidinase deficiencies but that would mean your TFTs would be abnormal.
me: ..........(stuck and unsure how to broach)....but my symptoms are hypothyroid
him: so we're going to look into other causes for those symptoms.
*note he didn't tell me my current TSH or FT3 but they have both been normal before with last memorable FT3 at 3.23 (rr 2.43 -6.01) and TSH 1.59 . I asked if testing total hormone levels would be of use at all but he said no because my thyroid labs are normal.
quite likely what is going on with me is cellular hypothyroidism due to poor mitochondrial function:
but even if I try and explain or broach these things, I can't quote him these pieces as they're not from medical literature. does anyone knew of some medical literature that explains the same concepts?
I am very doubtful they are going to treat me, but at the very least I would like not to be told it's 'medically unexplained' again.
diogenes or PR4NOW , would you have anything to add in how I might be able to approach this situation in conversation with him. I need to do this tactfully as I don't want to test patience further and get on his bad side as he is the only person left trying to help.
The only thing I can think of doing after this is trying to find an enlightened endocrinologist and hospital abroad who might be able to figure out how to treat me. Thank you all for past suggestions but I am pretty certain I'm past functional medicine approaches being of use (and also intolerant to supplements etc) and really need to be medicated somehow and asap. Perhaps immunology will come up with something but I'm not sure.
Thanks for reading.
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Another thing I wanted to ask if anyone knows which might be of use. Can your blood cortisol be normal but a synacthen test be abnormal, and what would this indicate? The doctor I am under is mostly an adrenal specialist - could this show anything? I don't quite understand the ACTH test. My AM blood cortisol is always normal.
I’m so sorry you’re feeling so unwell. I can’t imagine how awful it must be to not be able to get to the bottom of what’s going on but also to have doctors dismiss what you’re saying yet have nothing to offer you in return.
I’m going to go off in a slightly different direction though—and I know how widely you’ve read so it might be something you’ve already considered.
I can’t remember what your mast cell condition’s called—the one that’s limited your food intake so dramatically—but you’ve said before that your ferritin, B12, folate, Vit D etc have all been optimal, even though you can’t supplement. You also mentioned your B12 levels being very good.
That actually seems quite odd given your very limited diet. Hypothyroidism tends to make levels of all of those things I’ve mentioned tank dramatically, even in people whose dietary intake is well-rounded.
It’s the B12 result that has me especially curious. It seems it’s not well-known that very high B12 levels can be a sign of liver disease if you aren’t supplementing (it was in fact the only sign that my late partner had secondary liver cancer and it was missed until it was much too late, because doctors didn’t realise the significance). Has your doctor checked your liver function—done the full range of liver function tests?
I know your research has led you to conclude this is a slightly unusual presentation of thyroid hormone issues—and one thing’s for sure, I’m not qualified to say it isn’t.
But I think it’s probably good that they’re looking more widely for other contributory factors to your ill health. Health issues are often complex, especially once they’ve been going on a while—so even if this does turn out to be thyroid hormone related, the chances are there’s always been more going on than that.
Really hope you do start getting some answers soon.
thanks for your considered reply. i didn't know that about B12, that's really interesting. because mine is really quite high but then I eat a lot of meat. why is is that they go high in liver disease? it's not being metabolised properly? one thing i know is that they are always testing my B12 but not my active B12 (holotranscobalomin) so i'm going to ask for that. i'm due an updated vit D and folate test. i do think my iron is ok but i'm sure they'll do that again too.
no doubt i'm deficient in at some vits and mins but i'm not sure if they're the major ones. Things like vit C and micronutrients, copper iodine. think i might end up getting one of those vitamin drips tbh, don't know how else i'll get them in!
Ever had homocysteine, MMA, gastric parietal cell abs, (intrinsic factor abs, serum gastrin)....tested? Might be useful to see if they show anything like a functional B12/folate deficiency. Cheers
Thanks bookish! I've not heard of the latter few so will enquire. The first couple were definitely done by functional medicine a good while ago but results didn't seem to point there, i'll have to dig out.
does conventional medicine take all these or only functional labs?
Conventional ought to - but not as widely used as you'd hope. Parietal cell abs aren't 'diagnostic for Pernicious Anaemia' so no-one seems to want to do them, but if you have them you know you are likely to develop nutrient deficiencies, like iron, and B12 deficiency both because of lower stomach acid and less/no intrinsic factor - so useful to know I would have thought. Positive IF antibodies are generally diagnostic for PA but only about half ever show them. Unfortunately there are no perfect tests for B12/folate metabolism and plenty of places where things can go wrong. Even homocysteine and MMA can be misleading. But it is interesting that you are high without supplementing and that your thyroid seems to be a bit wayward. There is a possibility that lack of cellular B12/folate can affect myelin outer of pituitary and signalling can go awry in either direction. I'm trying to get to the bottom of that with my consultants although my hormone levels are low (looks like central/secondary). Datis Kharrazian's book on thyroid (and also the one on brain function) are quite helpful in my opinion, if you haven't read them. But Jazzw makes a very good point about liver function/disease and the thyroid and liver are intricately related, affecting each other, so worth checking out and a full set of liver function tests is definitely a good idea. Best wishes
very informative, thank you. the myelin pituitary bit is a bit beyond me, don't quite understand & have never heard of that but will read about it. thank you for the book suggestion because i am an information devourer but have not heard of this one! there is always more to know. all the best.
It was Dr Chandy's site which gave me the information about the pituitary membrane, and his book (also very useful, and huge!) which said that the outer membrane is myelin. Not been able to find anything to confirm as yet, but no reason not to think it may be an issue for some. b12d.org/overview/endocrine. Best wishes
Do you have a medical professional who would be prepared to do an internet application for genetic testing?
An American genetics lab called Invitae do loads of genetic testing panels, and believe that lack of money should not be an impediment to access to genetic testing. Hence, they are cheap for what you get for your money. It worked out about £180 per panel when I used them in March/April 2021, with the exchange rate dollars to sterling at the time. You pay in American Dollars. A "Clarity" credit card from Halifax doesn't charge for conversion of currency. With the dollars to sterling scenario at the moment, cost will now be different.
A medical professional has to do the application and I think they and the lab. would need to be convinced that you had good reason to be testing, rather than on a fishing expedition.
Because I thought it possible, due to family history, that I may have an auto recessive mutation(inherited from both parents) re. Vit B12, and their "Treatable Neurometabolic Diseases Panel" contains quite a few tests re. this, I paid for this panel to be run.
Other panels have B12 tests which this one does not have, which would be £180 per panel.
Testing there paid dividends for me for other reasons, but not to do with B12. Turns out
I can link the results from this as the reason why I seem to have Central Hypo. It did however cost me £350 for the medical professional who did the application. I did another panel in relation to my hypermobility, which was another £180.
An alternative may be using someone like" 23 and me" or something like that and running your genetics/ raw data through some kind of raw data base. I would like to do this, but really don't understand the process, and the old brain not really up to getting to grips with how to do this at the moment. I think Dippy Dame, and possibly Slow Dragon might have done this, as well as other forum members.
I doubt the NHS genetics dept. nor Adult Metabolic Diseases Unit would take you on, despite your apparent need for their services to get some answers.
I think these approaches to your ailments would pay dividends in finding answers that you won't find any other way.
Food for thought, and possible lifeline???
Hope you find some answers, and sending best wishes.
this is very interesting indeed. i don't quite understand though - would these not be present from birth? what exactly do the B12 tests done with this show that for example MMA can't? what specifically did your results show that linked with central hypo? intrigued.
I did 23andme and ran it through a program, actually the way they laid out the results was quite easily to understand. I'll have to look at it again but think it said I've MTHFR.
i don't think i have a metabolic condition per se - perhaps i used the wrong wording here, i mean the inadequate local/nuclear action of thyroid action within the cells due to various pathophysiological causes
I'm no expert on this and I'm winging it a bit. I dealt with Invitae c. 1 and a half years ago, so a bit hazy on it all. Don't really know your history. I'll try and answer what I think you are asking and trying to understand, and what I think would be of interest to you. Can't guarantee what i tell you is absolute gospel though.
You ask would these not be present from birth?
Yes and no. From memory, though present from birth I believe you could reach adulthood before problematic. I think it is to do with gene expression. The gene may not be expressed and cause problems unless triggered by , I think, things like environmental factors, stress, viruses etc.
A neurometabolic disease is caused by a lack or dysfunction of an enzyme or vitamin necessary for a specific chemical reaction in the body. Neurometabolic diseases ALTER CELLULAR METABOLISM, leading to disease including neurological manifestations. They alter specific metabolic pathways. You can have an adult onset of the disease. They can cause disorders of VITAMIN METABOLISM. These phrases I am copying from the internet. Just google "neurometabolic diseases", and there is plenty of information there.
Copying from another site they say: "The symptoms can appear at any age from newborns into adulthood".
You ask what exactly the b12 tests show. If you google , Invitae- Treatable Neurometabolic Test, it shows one of the panels which I did as testing 195 genes, and it lists them. I don't know whether you could run all 195 through 23 and me or not, as I don't understand this process.
Under "clinical description", you can click for all the diseases tested for, and there is a description. If I remember correctly, I read them all. Whenever cobalamin was mentioned in the description, then vit. b12 is involved, as cobalamin is Vit.b12.
You ask about the link my results have to central hypothyroidism.
I had variants of uncertain significance (VUS) for 2 associated neurometabolic diseases. They are basically brain diseases, and I have inherited mutations that are not fully understood. Genetic brain disease is one cause of Central Hypothyroidism.
I have 2 pseudodeficiency alleles for Krabbe Disease which they know does cause a mild enzyme deficiency for galactose (glucose and lactose).The genes for this disease were only cloned in 1990s. Although a mega rare disease, 60% of the population might have this allele. If have the double of these, plus another similar mutation you can have an adult onset of this disease, but no one in uk diagnosed as adult onset.
I have a single mutation for Alpha Mannosidosis which is a disease caused by an enzyme deficiency for mannose, a sugar similar to glucose. Mannitol in levo tablets is a sugar alcohol derivative of mannose. This VUS they don't think is harmful, but I do. If it is the combination would result in adult onset Krabbe. There would be damage to the white matter in my brain. I had an Mri brain scan last August and I do have vascular disease of the white matter of my brain! Surprise, surprise, they say it is age-related as I am 64. Had they done the scan 30 years ago , it would have been there then.
Therefore, i am linking these to Central Hypo. Whether the Endo does or not is another matter.
Having these VUS , I think, as well as IBS, has probably been why I have eventually managed to get liquid levo!
MTHFR is part of this neurometabolic panel, but as a separate report that had be requested. I was just told i was okay for this.
Neurometabolic diseases are deemed very, very rare. However, I read that everyone will be carrying around 6 gene mutations for rare diseases. They will be much more common than they think. To have one you need the gene from both parents, and that makes it less common.
I think this is what you wanted to know. Good luck!
I think you are replying to me? Could you not use the 23 and me and raw data base thing to run all the data through this?
I believe if you are talking about the Invitae internet application that a G.P. could do it. It is an American company and their medical system is different, but think they just want a medical practitioner. In theory I think you might get away with a G.P. application. I asked my G.P. to do it to avoid a £350 fee for a specialist to do it. I would have offered to pay the G.P. surgery for their time, if they had set a fee for doing it, I would have paid it. My G.P. wouldn't consider it. She said she knew nothing about the lab and didn't want to know. So, can't give you a definitive answer on whether a G.P. is acceptable. As i said the genetics lab are unlikely to entertain a "fishing expedition". You would need to be confirming a suspected diagnosis, with family history to back it up, I think.
It would be easier and cheaper if the first option is possible. I think the Invitae site information re. genes and diseases would likely give you the information you need to feed into the 23 and me and raw data base thing?
You are very, very welcome. Can you use the info from the Invitae site to run through your raw data base you link to 23 and me?
As I said, you will find cobalamin (Vit b12), being mentioned in other metabolic panels which you should also check if you can use 23 and me and raw data base to do so. I believe you must have mutations inherited from both parents. They may each have one and you have been handed down one from each parent, which have not caused either of them a problem. A single mutation from one parent is not supposed to cause a problem, but it can, although you won't have the actual associated disease as such.You obviously seem to have a metabolic problem with B12.
I know all too well how frustrating and upsetting it is to feel so ill and be searching for the cause. If you can't get anywhere with what we have discussed, you could ask to be referred to an adult metabolic unit, though I don't rate your chances as high. Use your high b12 without supplementation as your reason, to say that you seem to have a problem with vitamin metabolism?
Your endo is incorrect to assume TFT's would be abnormal in the presence of acquired deoidinase deficiencies because TFT's do not offer comprehensive enough results. The TSH is proved time & again to be an unreliable measure of HPT function and thyroid hormone levels only gauge what is in blood circulation but I think you would be hard pressed in finding a UK endo familiar with SPINA.
Your results evidence there is a HPT/HPA axis dysregulation and/or some cellular resistance even if conventional medicine doesn't understand this. Although you would supposedly require a multifactorial approach to overcome cell resistance, why don't you buy some thyroid hormone replacement meds and monitor yourself as many forum members have had to do? Have you read Dr P's book 'Your Thyroid and How To keep It Healthy' which offers light insight into the thyroid hormone and mitochondrial/ATP connections?
There is an interesting paper somewhere where a large percentage of CFS patients who were tested using SPINA were hypothyroid. Others who had cerebrospinal fluid levels rather than blood serum samples tested also proved hypothyroid. I can't remember or locate it atm but it may be on Tania Smith's forum .. thyroidpatients.ca/?s=SPINA
Regarding the testing of adrenals reserves, conventional medicine will use a blood test taken before 9am to test adrenals supposed highest hormonal output, and can be offered at a GP's surgery.
If results are low a hospital Stim test may offered which again only proves adrenals ability to respond in that moment and as a result of the injection, and not what day to day abilities/behaviours might be. If reserves remain low, unless ACTH is given it is difficult to assess where the problem lies.
Functional medicine commonly uses 4 x saliva samples taken over 24 hours that offers insight into not only the hormone levels but their behaviours regarding your circadian pattern. This allows appropriate functional support for the adrenals glands to be given, but results are not generally recognised by conventional medicine. If adrenals are unresponsive to functional supports it may be that you requires some steroid meds.
I'm sorry you are so unwell and being left to cope alone by the medical profession. If you post any results relating to adrenal investigations, members will comment.
a great reply, thank you so much. I will look into Dr. P's book.
The very unfortunate thing is that I am actually not responding to any oral thyroid meds at all, and they are causing a very bizarre and intolerable immune response - tried to explain it a bit more in a previous post but honestly it's very hard to describe the intensity of it and what it does to me.
This leaves me totally unable to self medicate, even on T3 only, despite so many efforts, and actually having to depend on specialists in conventional medicine to find some way to treat me either by dampening the immune response or a temporary non oral medication measure. which is unrealistic seeing as the doctors i've been working with so far will not recognise the condition. it's a tough situation.
i've had my saliva tested about a year ago and there is HPA dysfunction for sure. However, I'm responding with this awful immune response to any oral medications, so even a small dose of hydrocortisone tablets are doing this.
i went down the functional medicine road for quite some time, they were ultimately unable to help me even though i understand so much about it now.
Hey Thyroidfun. I’ve been in the same boat for many years, recently decided to get to grips with the facts and figures specifically. I’d recommend measuring the following:
Vit D (blood)
B12 (blood)
Folate (blood)
Iron (4 point; serum, ferritin, TBIC, transferrin saturation)
Cortisol (9am blood, 24hr 4 point saliva)
Without those ducks in a row, tolerating any thyroid medication is near impossible.
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Medical mystery.....
At last he listens
Test Results In
Endo appt a bit of a disappointment
Struggling Spouse 
