I’m new here, but have been lurking for a couple of weeks whilst I try and get my head around what I think is going on. I am grateful for all the information I have gleaned from you all.....thank you!
I am now convinced I have PA, because I have so many symptoms, for quite a number of years, although the last 6 years I put them down to the diagnosis of hEhlers Danlos Syndrome and Mast Cell Activation Syndrome (and apparently PA is very common with this disorder)…… so many years wasted not getting to the bottom of this (I have seen a lot of different specialists). I also have Smouldering Myeloma with regular 6monthly blood tests at the Royal Marsden - they always scratch their heads at my consistently low Haemoglobin readings (never tested for B12, folate or anything else useful for PA tho): so an iron infusion was given a year ago, with no change whatsoever to my haemoglobin or symptoms (but thereafter no further investigations either).
Symptoms are endless, pretty much everything on the list, from gastric pain, sensation of cold water running down my legs and stabbing pains, chronic fatigue, changeable eyesight, palpitations, cognitive changes, tinnitus and much much more.
As I have deteriorated and become more worried, and now come to the PA conclusion, I just had some tests done: but my Active B12 was high (although I only stopped taking supplements 10 days before) as was my ferritin, and folate, Intrinsic Factor Antibodies <1.00 and Gastric Parietal Cell Antibodies also Negative. I know the tests can be unreliable…..but I’m wondering that because my symptoms are so pronounced…if it could be a a functional issue. If so, how would we know apart from my symptoms?
I know that I have a string of key high risk genetic variants for a variety of relevant things - primarily that could affect my ability to absorb B12, also that could give me a predisposition towards an impaired methylation cycle and a lower folate methylation ability as well as a lower red blood cell count.
I’m really hoping to find my way! I am only worried about getting the right diagnosis. I would welcome any thoughts before I speak to my doctor.
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NZCruise
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My daughter has ehlers danlos( heds) also P.o.Ts The latter because of an undiagnosed B12 deficiency and megobolastic anaemia but did have low ferritin and folate deficiency.
She eventually did get B12 injections.
And has been them for about 8 years.
Although a nurse has meddled recently and stopped her b12 injections getting a g.p to sign if off .
Yet to be sorted.!!!
There is
Functional B12 deficiency when your b12 levels are in range but not reaching cell level .
The order usually can be;
B12 serum test
Iron panel / ferritin
Vif D
Then
Intrinsic factor antibody test ( picks up about 50% of those with PA)
Hi, just be aware that MMA and homocysteine might also be normal and you still have a deficiency which will benefit from injections (which was the case with me). I haven't found that anyone is remotely interested in my genetic SNPs so I no longer mention them (medically speaking), but I did get a considerable benefit from a small dose of methylfolate, gradually introduced, as well as from magnesium. I expect we have some of the same variants, but unlikely to be exactly the same so you may not find these as helpful as I did. Interesting about the mast cells. I have no diagnosis but definitely have some issue there, quercetin (and magnesium) most useful, but it is still a problem. Best wishes
Thank you ....very helpful particularly about the methylfolate (I already find magnesium is good for me). Also glad to hear on your take on interest in gentics, which kind of confirmed my sense of whether this would be taken as meaningful (or not) .....as a very complex area, I suspect that most would prefer to leave it to experts in the field of genetics (rather than piquing a curiosity in their given field), not to mention an inherent cynisism / irritation of healthcare professionals as patients search to try to make sense of their condition. I guess I'll keep it to myself too. Having said that, genetics is definiately going to be the way of the future in terms of preventative medicine and diagnostics....that, I welcome.
You're welcome! I know some with methylation issues definitely don't want more methyl groups and these things can change over time anyway, but I was surprised by how much it helped to add the methy(tetrahydro)folate liquid.
As I've got further up the tree with consultants I have found a few who are mildly interested in the SNPs, but the inherited metabolic disease people that I saw were only looking at genetic mutations and not at all at variants. This seemed rather a shame as you can generally change lifestyle, diet and supplements to bypass the SNPs but the mutations may be more tricky. I think the huge amount of over-hype concentrating on MTHFR alone has made some medics dismiss the whole thing, whereas if you look at all of the SNPs potentially (if expressed) affecting the whole one carbon/methylation/folate etc cycle then it is obvious that knowing and working on your personal vulnerabilities can make a significant impact on how your body functions and explain a lot about why we got into the position we are in. I benefited from magnesium and methylfolate prior to doing my genetic testing, and the results showed me why. Best wishes
I've spoken in past to someone with EDS who thought that gut symptoms linked to EDS were causing her B12 deficiency. I found some articles on this when I searched online for "B12 deficiency Ehlers Danlos".
Ehlers Danlos Support UK (charity) may have some info.
I left detailed replies on these threads below with links to help those in UK struggling to get adequate treatment eg suggestions of UK B12 documents to read, people to contact if unhappy with treatment, sources of help for GPs.
Some links I post may have details that could be upsetting so you may want to read through them with a supportive friend or family member.
Yes, I had already joined the PA Society and had had a good trawl around the information you mentioned (from your previous posts): such invaluable resources. But thank you for bringing them to my attention again.
Your right, the EDS road is very complicated, and with MCAS in the mix even more so: it would be good to find out which way round the causation is. I hope that this information might become clear as more infomation becomes available, but it is no means a given. I am hopeful.
You said your active b12 was high and that you stopped taking oral b12 10 days before. Whilst it would be useful to know how high and how much b12 you were taking, it is possible that your serum b12 levels were still elevated after 10 days.
If so why hasn't the elevated b12 resolved the deficiency?
B12 is a somewhat odd deficiency. It seems that for many people once they have had deficiency then the serum levels need to be really quite high to control symptoms. The reason for this is not entirely clear. This is apparent in the treatment protocols which flood the body with b12 as injections eod albeit it is not explicitly stated.
The reason for needing high b12 once deficiency has developed may be a result of poor distribution at the cellular level and also into the CNS. B12 is a big molecule. It might also be to push or flood enzymatic activity which otherwise have failed.
I am sorry to hear of the suffering you’ve experienced for so long. We understand.
I recently decided to accept I won’t get a proper diagnosis (in my own situation) and to treat the (multitude of) symptoms instead. Not knowing along with totally unhelpful providers was just increasing my anxiety. For now I’m doing injections about every two weeks on my own and I’ve become mostly symptom free for now anyway. I’ve been on this roll coaster nine months. Although I looked back and saw a very low B12 result from nine years ago! Praying for your situation.
What an acheivement, on your own, to get to the position where you have become mostly symptom free. It must have been quite some journey but I salute your tenacity. I think reducing anxiety is really important in the mix, so getting to a place of acceptance must be really helpful (although also no mean feat I daresay). So many heroes on this journey. Thank you for your prayers.
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