CT to me:
Hi David,I read your post on the Amy boards this morning. Your Mom's experience sounds much like mine. I was spilling a bunch of protein and got a kidney biopsy last Sept. I belong to Kaiser HMO and my nephrologist sent the biopsy to Stanford. They found the amyloid (by staining), but it didn't react the right way for primary. They (Stanford) sent the biopsy to Mayo for clarification. In the meantime I had a bone marrow biopsy and started trying on hats to wear after SCT. Early Oct. my oncologist called me with the Mayo results. I was shocked to discover it was familial amy. I am currently on the top of the list for a liver transplant at UCSF. My rare, rare type affects mainly the kidneys. My kidneys are hanging in there, but just barely.
Mayo does some kind of specialized test on the biopsy that was just published in November (if I recall correctly).Good luck! If I can help any more email me.
Me to CT:
Thanks for the note. In the back of my mind I have been wondering if Mom's might be familial, since I haven't looked much into familial to know how it's diagnosed, symptoms, etc. Is your liver transplant necessary because that's where the amyloids are produced, or due to damage caused by the amyloids?
CT to me:
Yes, ALL of the bummer stuff is produced in my liver. In most familial amy MOST of the bummer stuff is produced in the liver. I only had to have the one biopsy. There is a genetic blood test that can be done to see if you have the gene, but the biopsy is needed to see if you actually have the disease. I come from a large family and still can't find anyone who may have had this. The penetrance is really low with my type. I have never seen a doctor specifically for my amy--only the symptoms. I think I went through seven different diagnoses before I finally got this one.
So now we know there is someone whose initial symptoms were somewhat similar to Mom's, and hers turned out to be familial (hereditary) amyloidosis. And she's currently listed for a liver transplant.
We can also see at this point (April of 2010) that I was considering the possibility that Mom might have familial amyloidosis, but I hadn't done much research on it.
Next up: Boston or Mayo?