Friday, July 5, 2013

All In The Family

As I mentioned in the previous post, we now know which of Mom's parents she inherited fibrinogen amyloidosis from. We recently learned that a cousin on her father's side was diagnosed with fibrinogen amyloidosis. Here is the preliminary information I have. This cousin, who I will refer to as RM for now, is 60 years old, has been on dialysis for about two years, and was diagnosed with fibrinogen amyloidosis when a kidney biopsy was analyzed at the Mayo Clinic. Here is how we go through the family tree to get from Mom to RM:

My mother's father, Marshall, died at the age of 76 due to complications after a spinal cord injury. He had diabetes, but no significant kidney issues as far as we know. Marshall's father died at the age of 89 and his mother died at the age of 95, with neither of them having any known kidney issues. We do not know which of them had the mutation.

Marshall's brother Charlie died at the age of 60, again with no known kidney issues. Charlie had three children, one of whom is his son RM who has been diagnosed with fibrinogen amyloidosis. Charlie also had two daughters, and they have both tested negative for the mutation. RM has two children who have not been tested.

So in this kindred we see at least two individuals (Marshall and one of his parents) who had the mutation but lived into their 70's or later without developing any symptoms associated with fibrinogen amyloidosis. That is one of the main reasons why genetic testing is so important. Lack of symptoms in an individual does nothing to indicate whether or not that individual has the mutation. The symptoms can and often do skip one or more generations, but the mutation cannot.

Marshall and Charlie came from a family of 11 children, 9 of whom lived to adulthood, with 8 of them having children. Two sisters are still living today at the ages of 94 and 79. Those 8 siblings had 20 children among themselves. Based on the information I have on that side of the family, which I know does not include all of the descendants, there are now 7 people living who have a 50% chance of having inherited the mutation and have not been tested, 17 with a 25% chance, and at least 22 with a 12.5% or lower chance.

So it looks like I have a new mission now, to let Mom's cousins on that side of the family know that an ancestor of theirs definitely had the mutation. With that information, and the fact that the symptoms can skip generations, hopefully some more family members will get tested.

Another important piece of information from RM's diagnosis is the age of onset. Mom started dialysis at the age of 71, whereas RM started dialysis around the age of 58. As we will see in some future articles, the age of onset does have a fairly wide range with fibrinogen amyloidosis. So just because Mom's symptoms stared appearing in her mid 60's does not mean I can sit back and rest easy until I reach that age.

Next up: Dialysis on a cruise ship? Yep.

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Here is my favorite spam comment from June:

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