There have been a few development recently. Perhaps the most important/biggest development is that I don’t seem to have Amyloidosis. I’ve now seen one of the world’s foremost authorities, and he tested me for all sorts of genetic possibilities, including TTR, as well as for acquired possibilities. For example, no Bence Jones, and more generally no evidence in urine or blood.

Meanwhile, I had a colonoscopy and gastroscopy, with samples taken from all over the GI, top to bottom, for biopsy. No evidence of amyloid, H. Pylori, Celiac (though I’ve been off gluten for over a year now with the exception of two slips, so the negative result mean nothing), and a few other things. At this point a fat pad biopsy is thought to be unnecessary, as well as a sural nerve biopsy since I have no evidence of motor involvement. So if I do have Amyloidosis, then it’s hiding extremely well and is not in my liver, lungs, heart, kidneys or GI. This seems highly unlikely. So I’m happy to cross that off the list. I was quite thorough, pushed for all the tests and nothing showed up.

David, that is good news - it sounds to me that the guy who you saw did a very careful and thorough investigation.

Thank you, Kiwi. It means a lot hearing that from you. I had you in mind when I wrote the update, since you've been quite helpful during this investigation. Like I said, if I do have amyloidosis, it would be a very unique case and the amyloids would be doing a hell of a job hiding. So highly unlikely.

[QUOTE=DavidHC;1220112]There have been a few development recently. Perhaps the most important/biggest development is that I don’t seem to have Amyloidosis. I’ve now seen one of the world’s foremost authorities, and he tested me for all sorts of genetic possibilities, including TTR, as well as for acquired possibilities. For example, no Bence Jones, and more generally no evidence in urine or blood.

Hi David,

Can I ask what made you pursue the amyloidosis test. I have read about this myself and wondered whether it would be worth pursuing. Frankly I'd have every test going if it wasn't such a fight to get consultants to do it.
Sorry if you have said this before. Was the sample taken for amyloidosis in the GI only? Ive read that the inside of the bum passage is a key place to check as well as the fat pad biopsy. What made them yet for this or did you suggest it and make it happen so to speak?

It was mostly pursuing a list of most likely differential diagnoses. My neurologist thought it a possibility for good reason, as did I. I have many of the symptoms of amyloidosis and not just SFN.

They took biopsies from the entire GI tract, stomach, small intestine, large intestine and rectum. I believe you have the last in mind. Yes, that's a good location to biopsy, though the best way is to biopsy the organ involved, if you already know that. But I had no obvious organ involvement. I also had my skin punch biopsy sample tested/stained with Congo red, and nothing.

You can also do a fat bad biopsy or a sural nerve biopsy. But if you have, say, kidney involvement, then you biopsy the kidney which is as precise as it gets. But I didn't have any such obvious involvement.

Biopsy samples of the GI tract are very standard during a colonoscopy or gastroscopy, so that shouldn't be an issue. There are also urine and serum tests to check for certain markers.




Hi David,

Can I ask what made you pursue the amyloidosis test. I have read about this myself and wondered whether it would be worth pursuing. Frankly I'd have every test going if it wasn't such a fight to get consultants to do it.
Sorry if you have said this before. Was the sample taken for amyloidosis in the GI only? Ive read that the inside of the bum passage is a key place to check as well as the fat pad biopsy. What made them yet for this or did you suggest it and make it happen so to speak?[/QUOTE]

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Thanks David, that's really helpful information. Its great it isn't that but I know you just wish something would show up positive soon! Think we all feel this way on here. That's one down though so on with the next! 😃

Yes indeed

I really do want to know what it is, but honestly I'm so glad it wasn't amyloidosis. With some exceptions, the prognosis in many cases is about 2 years!

Upward and onward!


Thanks David, that's really helpful information. Its great it isn't that but I know you just wish something would show up positive soon! Think we all feel this way on here. That's one down though so on with the next! 😃[/QUOTE]