Genetics

Lon went to the conference for the genetics, but I listened too!
Familial amyloidosis means just that--it's a family thing! The bummer gene was with me at birth, therefore I had to get it from either my Mom or my Dad. In turn they had to be a carrier and get it from their Mon or Dad. So where is the smoking gun? I have spent hours considering this and still don't know--it's really not necessary to know, but it's so frustrating not knowing. We know it's passed at a rate of 50%, so half of my kids may have the gene. My Mom was one of six and my Dad one of seven, so the odds would be that someone had the actual disease, but I can't think of anyone who might have had it. It is more common in certain kindreds, and based on that I could probably rule out my Czech paternal grandfather. My Dad's Mom was born in Sweden and that could be a possibility. She also died relatively young--48--in the flu epidemic in 1918. So if she had the disease she died before it appeared. The other possibility could be my Mom's Dad. He was born in Scotland, but he lived to be 73--too old I think. Her Mom is Danish and that isn't a kindred that is usually affected.
What does all this mean? It's actually a good thing-- a very good thing. It means that the penetrance, the rate that people actually get the disease, is very low, and that the age of penetrance is relatively late in life--kind of like me! So it means the kids could get tested to know for sure, or just make sure that when they get around 50 to get tested every year for any signs of kidney disease--something that should show up in even the most minimal of a physical.
Do I still feel awful that I probably passed this on--of course! But it is manageable now and in the future it will be even more manageable. Hopefully no one will ever get to the point of kidney failure that I am at right now.