August 2010 - Spreading the word

After Mom got her diagnosis of fibrinogen amyloidosis, I started searching for and reading the medical journal articles I could find that dealt with it, and I also asked Dr. Skinner in Boston some more questions. I was curious about how rare fibrinogen amyloidosis really was. Dr. Skinner said that Boston sees about 200 new amyloidosis patients per year and has since 1980, and only about 10% of those (20 per year) have some form of familial amyloidosis, usually ATTR. She said they have only seen a total of 10 to 15 patients with fibrinogen amyloidosis since 1980. So for the Boston patient population, that averages out to one patient every two years with fibrinogen amyloidosis. If we assume the Boston patient population is representative of the overall US population (unlikely in terms of familial, but let's go with it), and if we use the figure of 3000 new amyloidosis patients per year in the US, then that works out to be 7.5 new fibrinogen amyloidosis patients per year. Given that wild guesstimate, and assuming a US population of 300 million, Mom went from being one out of 100,000 to one out of 40,000,000. Isn't she special?

Anyway, I first wanted to inform the family members with a 50% chance of having inherited the mutation what to tell their doctors to be on the lookout for, now that we had a better idea of what the earliest symptoms would be. Based on what Dr. Skinner had told us, here's what I sent to my two younger sisters and my two uncles on my mother's side about that:

==========
- Tell your doctor at your next regular visit that you have a 50% chance of having familial amyloidosis due to a fibrinogen mutation. Do not be surprised if your doctor does not have a clue what you are talking about it. He or she may have to do some research before being able to tell you much about it.

- Tell your doctor to be on the lookout for signs of kidney trouble, especially proteinuria (excessive protein in the urine) or elevated creatinine levels. Either of those symptoms would warrant having the genetic testing done to determine if you have this hereditary form of amyloidosis. A positive test result for the fibrinogen mutation would warrant referral to a nephrologist (kidney doctor) for recommendations on taking care of the kidneys and discussions about liver and/or kidney transplants.
==========

Having taken care of the immediate family, my next mission was to spread the word to the extended family. At this point we didn't know whether Mom inherited the mutation from her mother or father. Her mother died at the age of 85 due to heart issues, and her father died at the age of 76 after a spinal cord injury. Neither one of them had kidney issues as far as we know, so whichever one of them had the mutation apparently didn't develop significant symptoms. We know one of them did have the mutation, which means one of my mother's grandparents had the mutation, which means my mother's cousins are potentially at risk of having the mutation.

My mother's mother was an only child, so we would have to go up another generation and come back down to find descendants who may have the mutation, if it came from that line. My mother's father, on the other hand, came from a large family. He had eight siblings, and six of them have surviving children or grandchildren. As in many families that large, people move around the country and lose contact over time, but between Mom, her cousin Pat, and Mom's older brother we eventually determined we had a way to contact at least one person in each family.

So now I needed to write a letter explaining Mom's situation to people who have likely never heard of amyloidosis, and may or may not remember me even if they had ever met me in the past. Given its length, that letter will be in the next post.

=====

Monthly Blog Status Update

At least until I catch up to real time, the first blog post each month will include a little blog status update at the end. This may only be of interest to me, so feel free to skip it. That's why it's at the end. (This material will not be on the final exam.)

Months behind as of October 2012: 33
Month behind as of November 2012: 27
Total posts: 18