Before proceeding, please watch the following five second YouTube clip, because 37 million views isn't enough:
So now we know. I wasn't devastated by any means, especially since I've known since Mom's diagnosis that I had a 50% chance of having it. I figure if I'm going to have the mutation, now I have plenty of time to think about organ transplants and keep informed of the latest developments. I know it's a late onset disease, and we suspect Mom's symptoms first started appearing around the age of 65. (I was 48 at the time of my diagnosis.) I also knew from the articles I had read that the penetrance is well below 100%, which means having the mutation does not guarantee a person will develop symptoms. So to me there was no sense in worrying about something that might not ever happen. What does make sense is to have my creatinine and proteinuria checked annually, and to have a plan for what to do should either one of those start heading the wrong direction.
(Incidentally, I do not have any biological children, so the prospect of having passed along the mutation was not a concern for me. I can understand how possibly passing on the mutation adds another dimension of concern for people in that situation.)
After informing my wife, my mother and my two sisters that I tested positive, I posted the following as my Facebook status:
"Those of you who have known me for awhile may already suspect this, but genetic testing has recently confirmed that I am, indeed, a mutant."
Then on February 27 I sent this email to the familial support group, with the subject line "From Caregiver to Patient":
In the summer of 2010 my mother (Linda from Dallas) was diagnosed with fibrinogen amyloidosis after an evaluation at Boston, and I am the first additional family member to be tested for the mutation. I found out this month that I did test positive, so I now become not only a caregiver but also a potential patient. As my cousin put it, I won the family reverse-lottery.
Fibrinogen amyloidosis affects the kidneys almost exclusively, and at my last physical exam I showed no signs of proteinuria or elevated creatinine levels. Dr. Skinner said as long as I have those items checked annually there isn't much else for me to do at this point. I will likely have a baseline evaluation done at Boston if and when my mother goes back there for another evaluation. (I'm 48, and I suspect her symptoms first appeared around the age of 65.) Some people
with the mutation never develop any symptoms, so maybe I'll be lucky in that regard.
Since there are no drug treatments available for fibrinogen amyloidosis, and a liver transplant is the only "cure" at this point, other family members have been less interested in getting tested for the mutation. (At least they have informed their primary care physicians of the possibility.) It's obvious where I stand on the question of genetic testing, but that may be due to my having gone through the diagnosis process with my mother and participating in support groups in Dallas and online for almost a year now.
I assume most people on this list can think of many good reasons for someone who is asymptomatic to get tested if they have a 50% chance of having inherited a genetic mutation leading to amyloidosis, but are there any good reasons not to get tested? The Genetic Information Nondiscrimination Act (GINA) prohibits U.S. insurance companies and employers from discriminating on the basis of information derived from genetic tests, so I can't think of anything bad that can come from knowing, regardless of the results.
So that's where we were as of early 2011. Mom's kidneys are slowly getting worse but she has no outward symptoms and is traveling all over the world. I have the mutation but no symptoms. Things slowed down a little at that point (but not for long), so now is a good time to start adding some more background info and resources to the blog. Stay tuned.