Today I received the latest message from NORD.Gov. It speaks of today being International Rare Disease Day. The point is to recognize that there are many diseases or disorders which are built into the lives of less than 200,000 Americans, or less than one in 100,000 or so around the world. I don't know the exact definition of "rare" here. Part of the confusion around Amyloidosis is that there is actually no consensus definition of the disease name, but NORD seems to estimate that about 3,000 persons are diagnosed each year. I think this means that, actually, about 100,000 Americans actually are host to this misfolded protein disease, but only about 1/30 of them are diagnosed. Doctors seem to do what they can to protect the disease from modern information and technology. The demand by Medicare to peg the whole diagnosis on biopsies is ridiculous, given that only about 60% of otherwise proven patients show positive in any biopsy, and some of the biopsies show only about 10-15%, according to Mayo Clinic. My form seems to be Gelsolin, a form in less than 1 in 1,000,000 persons, originating in Finland during the time of the Vikings.
Most doctors will never see a patient with one of the more common forms of Amyloidosis, hATTRwt, or others like it. Yet one of my doctors, a cardiologist, bragged he had seen "Hundreds of Amyloidosis patients".