Thanks, Mat. Much appreciated. I hope so too. I'm in the same boat: better now than earlier, so I don't think it's Amyloidosis, but one never knows, and it could always be the calm before the storm. Now I'm just being negative...

Regardless, I thought I'd look into it and it seems my neuro seems to think at least familial could be possible. There are slowly progressing types, and one never knows how to interpret all these signs and symptoms when ill, so perhaps I can find someone to do a biopsy soon.

I hope you get some answers too, it's what I hope for all of us, since we're all searching, or most of us at any rate.

David I do understand. I seem to alternate between panic and thinking I'm a hypochondriac. But I had RA five years ago and this led to me taking various immunesuppresants. RA seems to have gone into remission and I couldn't tolerate the drugs so this is good. I'm too stressed out by other stuff such as buying a house that reeks for as yet unknown reasons, uncle dying and other more minor stuff. I haven't time to be worrying about forms of cancer - I just have to trust my instincts that something is wrong and I feel it must be immune mediated because I've had RA. But Amiloidisis is very closely related to RA so this doesn't reassure me too much!

"Do you happen to know whether it's still possible to have Amyloidosis or MM with a negative Bence Jones?"
Yes, it is possible.

"I'm curious whether it's possible that they find a new mutation with me and just don't know."
It could happen though finding it out would be more complicated to discover (full sequencing your TTR genes) rather than just checking for L55P or V30M.

If you do have a novel TTR mutation, possibly linked to your neuropathy, then Professor J W Kelly at the Scripps Institute would be worth getting in touch with.

He is very approachable (he gave us a plasmid with the L55P mutant in it - we used that to make many other mutants). He has done lots of work on TTR amyloidosis, including developing experimental drugs which may block it - he could have some suggestions for you.

Thanks. If I do, I will do so. I've already looked up his contacts details.

I see. And is that not normal for a lab? I mean, should I request it from my neuro or at least inquire what will happen?

Also, I'm somewhat confused, since the list of known mutations is much longer than those two. Here: http://amyloidosismutations.com/mut-attr.php. Wouldn't every lab at least check for every known mutation? You seem to be saying those are the most common? Even if so...

In all honesty, I sincerely hope I don't have Amyloidosis.

Mat, I'm sorry for your loss. I'm also sorry to hear you're having stress from those issues. Ah, buying a new one is always a stressful event, even when it goes smoothly. I hope you can get past this stuff sooner than later. I know, easier said than done.

I believe Amyloidosis and RA can go together, though I doubt it's that common, though don't quote me on that. It's then called secondary A., I think.

I hear you. I am getting better and worrying less really, much less. But that's for now and the vitamin D has helped, but I don't know how I will in the future. I used to be a serious hypochondriac in my earlier days, though I got over that for the most part. But it doesn't help when one is ill and can't figure out the cause, not to mention when the illness causes so many symptoms. Alas, we do what we can, I guess!

DavidHC, you are right - there are many TTR mutants which form amyloid fairly quickly. Even normal (wild-type) TTR can do this, though slowly - this is associated with Senile Systemic Amyloidosis, which mainly affects people who are 80+ and often leads to heart damage.

I think that, if only for your peace of mind, getting checked out for all of those possible mutants is a good idea.

It could be done in two ways; sequencing both of your TTR genes or doing a SNP (Single Nucleotide Polymorphism) screen. The latter is what 23andMe does, though there may be other entities who can also do that.

Your neurologist should be able to advise you about this.

Kiwi,

You've been most helpful. Thank you. I'll speak with my neurologist further and see what precise test he intends to have done.

Again 23andMe has come up. Perhaps I should have it done. I wonder how realizable it is. I presume there's no difference between providing one's saliva to them as opposed to one's blood to some non-commercial lab/company. I'll look into it. I'll contact 23andMe and see what they do in Canada (apparently there are now some issues for them in the US) and whether they cover all the mutations for Amyloidosis. I'll also speak with my neuro.

Edit/Addition: I managed to find this: https://www.23andme.com/en-ca/health/reports/, which mentioned only the following mutations, far fewer than the list I posted earlier with all (I think) known mutations:
Thr60Ala,T60A, p.Thr80Ala, c.238A>G
Val30Met, V30M, p.Val50Met, c.148G>A
Val122Ile, V122I, p.Val142Ile, c.424G>A

I'll still call them and speak with them just in case they do more, or can do so.

Found this also: http://www.mayomedicallaboratories.c...Overview/83674

I am surprised that the 23andMe coverage of TTR SNPs is seemingly so small. They buy the SNP library from a reputable source (Illumina) - might be worth checking with them.

The Mayo Clinic has an excellent reputation and their approach looks sensible to me.

Thanks, Kiwi. I'll be calling 23andMe tomorrow morning to inquire about this. I'll also speak with my neuro and see about sending the sample to the Mayo Clinic and asking for a thorough test. Thank you for all your expert assistance.