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Old 04-04-2016, 09:10 AM #1
MAT52 MAT52 is offline
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Join Date: Feb 2015
Location: Scotland, UK
Posts: 529
8 yr Member
MAT52 MAT52 is offline
Member
 
Join Date: Feb 2015
Location: Scotland, UK
Posts: 529
8 yr Member
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Quote:
Originally Posted by mrsD View Post
Mat, I think it is time for some DNA testing for MTHFR.

I don't recall if you have posted that you have had this done?

People who have these mutations (there are several of them) cannot repair tissue, have nervous system symptoms, and all sorts of problems). Homozygous carriers( one copy of the errors) develop symptoms slowly and later in life that heterozygous (2 copies of the errors).

As time passes, here on NeuroTalk, more members are getting this test and turning up learning their puzzling problems are related to a MTHFR mutation.
Thanks Mrs D. I did have my homocysteine and MFR (I think this was the name - the other test for B12 levels) done privately three years ago when my SFN first started. They both came back within range. I think my rheumatologist and the last neurologist have pretty much covered all the DNA tests that are done in the UK. This isn't to say I am sure because I don't receive print outs of all hospital results - only the ones done in the local lab. Some of these tests can only be done in the London lab and these are just described as normal by my specialists.

I had my serum B12 tested two months ago and it came back at 628 so I defintely wouldn't be seen as having B12 deficiency/ PA. I pointed out to the neurologist last week that my IgA was raised in 2013 and again last year but she just dismissed this as me reading too much into blood tests and said everyone would have a few off results if tested often but told me I'm over thinking it all. I think the introduction of Liothyronine is helping a bit with my energy levels and general wellbeing though - perhaps it is actually making the T4 do its job. And perhaps I will feel further improvement to other symptoms over time. But the endocrinologist also told me that I would never recover the sensation that the SFN has killed off now.

So despite being warned not to overthink and look for reasons for my SFN that apparently don't exist - I still plan to keep researching and tweaking as I see fit. I think anyone with an enquiringly mind and the gradual loss of sensation in their peripheries would. You have helped me a great deal with my quest for answers over the past two years and I'm very appreciative. I particularly love your Galileo signature and mutter it to myself inwardly every time I come across an indifferent or dismissive doctor! Mat x
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Sjögren’s, Hashimoto’s and Systemic Sclerosis with Raynaud’s, Erythromelagia and small fibre polyneuropathy, GI problems top to tail, degenerative disc disease and possible additional autoimmune diseases
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bluesfan (04-04-2016), mrsD (04-04-2016), ShaggyChic_1201 (04-04-2016)
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