Amyloidosis. Diagnosis, treatment, frustration. AL, hATTR, etc.

Posted by oldkarl @oldkarl, Aug 25, 2017

Perhaps the most difficult disorders are those which offer little hope, such as some forms of Amy. The diagnosis is very difficult, slow, frustrating and non-sensical. Some say even illiterate and ego-driven for those with the symptoms and signs. Many of the individual types, such as Cystatin C and others show up at rates of less than one in a million per year, some less than one in 100 million per year. So far, my diagnosis has taken over 50 years, and I suspect will take another 5, if I live that long. My life expectancy is now about 2 years, we suspect. The best known centers in the USA are Mayo-MN, Boston, Stanford, City of Hope. Story at: https://bit.Ly/1w7j4j8

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Kanaaz Pereira, Connect Moderator | @kanaazpereira | Aug 25, 2017

Thank you for sharing this, @oldkarl.

This may sound naive, but with all your incredible research on Amyloidosis I'm hoping you are aware of the clinical trials at Mayo Clinic?
I found 11 'open' studies, with respect to AL amyloidosis, and hereditary transthyretin-mediated amyloidosis (hATTR):
http://www.mayoclinic.org/diseases-conditions/amyloidosis/diagnosis-treatment/clinical-trials/rsc-20338936
And here's a bit about Mayo Clinic's "Protein Misfiling Lab" which focuses on light chain amyloidosis:
http://www.mayo.edu/research/labs/protein-misfolding/overview
Please keep talking to us and continue to keep us updated – there is no better teacher than experience. We wish you every success and strength.

oldkarl | @oldkarl | Aug 25, 2017

Yes, Kanaaz, I am just now coming to the point of being eligible for some of those trials. There is one in particular that I hope to get in on, the 2A4-NEOD001. But oh, yes, I am quite familiar with the Mayo-MI system now. Thanks.

John, Volunteer Mentor | @johnbishop | Oct 14, 2021

@oldkarl and other members with Amyloidosis, hATTR, and polyneuropathy. I thought you might be interested in the following free webinar from the Foundation of Peripheral Neuropathy.

Understanding the Connection Between Polyneuropathy and Hereditary ATTR (hATTR) Amyloidosis
Tue, Oct 26, 2021 1:30 PM - 2:30 PM CDT
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Understanding the Connection Between Polyneuropathy and hATTR Amyloidosis

Hereditary ATTR (hATTR) amyloidosis is a rare, genetic condition that affects an estimated 50,000 people worldwide. hATTR amyloidosis is caused by a gene change, or variant, that affects the function of a protein called transthyretin (TTR). In hATTR amyloidosis, the TTR gene change causes the protein to take on an abnormal shape and misfold. This change in shape causes the protein to build up in various parts of the body, including the nerves, heart, and digestive system.

As a hereditary disease, hATTR amyloidosis is passed down through family members. If one parent has hATTR amyloidosis, each child will have a 50% chance of inheriting the variant from that parent. However, inheriting the variant does not necessarily mean that they will develop hATTR amyloidosis.
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Register for the webinar here: https://register.gotowebinar.com/register/3171035932823239695