After I sent the note on June 19 to the online amyloidosis support group about the preliminary results from Boston, Muriel Finkel informed that there was an online support group for familial amyloidosis only. So I joined that group also.
Dr. Skinner had asked us to touch base with her in about a month, but Mom was in the middle of a two-week trip to Hawaii on that date so I waited until Monday, July 26 to send Dr. Skinner an email. She wrote me back the next day and said they were finishing up Mom's genetic testing, and we scheduled a conference call for Friday, July 30. Given the title of this blog, it should be no surprise that they determined Mom had the fibrinogen mutation. (The other three most likely possibilities were lysozome, apolipoprotein A1, and apolipoprotein A2.)
Dr. Skinner gave us some of the specifics on fibrinogen amyloidosis, and she also emailed me an article that was a study of 71 patients and their various outcomes with liver and kidney transplants. I sent an email to the family members with a 50% chance of having inherited the same mutation, which was my two younger sisters and Mom's two brothers (one older, one younger). Then on August 2, 2010, I sent the following update to both of the online support groups, which pretty well covers everything I knew about fibrinogen amyloidosis at that point:
My mother Linda (from Dallas) got her diagnosis from Boston last week. I'm posting this update in both the regular group and the familial group. To recap:
- 69 year-old female, history of proteinuria going back to ~2007
- Kidney biopsy December of 2009 showed amyloids, but not definitive for
- Bone marrow biopsy and blood work negative for primary amyloidosis (March
- Evaluated at Boston in June of 2010
- Fat pad biopsy negative. Second bone marrow biopsy negative. No heart issues.
- Kidney function is estimated to be below 40%
- Familial amyloidosis suspected, but not ATTR. Genetic testing required.
The genetic testing revealed that she has the fibrinogen mutation, which means the liver is producing amyloids and the kidneys are usually the only affected organ. Progression is much slower than primary amyloidosis, which is good news. There are no drug treatments or clinical trials available at this time, which limits the treatment options to:
- Do nothing other than take care of her kidneys the best she can, which means the kidneys will gradually get worse and she will eventually require dialysis.
- Get a liver transplant. The damage is already done to the kidneys, but a liver transplant means there will be no further damage due to additional amyloids.
- Get a kidney transplant, keeping the original liver. It takes several years for a new kidney to show signs of amyloidosis.
- Get a combination liver and kidney transplant.
So we have a lot to think about regarding an organ transplant, if she is even a good transplant candidate given her age and current medical condition. Dr. Skinner sent me a very informative article about a study in the UK that followed 71 patients with fibrinogen amyloidosis, and there is some good info in there regarding actual outcomes with and without organ transplants. If anyone would care to share their experience regarding dialysis, organ transplantation or struggling with the decision on whether to have a transplant at this stage of the disease, feel free to contact me through the group or privately at firstname.lastname@example.org.
Since a parent with this mutation has a 50% chance of passing it to a child, I am now in the process of contacting other family members who may be affected so nobody gets unnecessarily blindsided by this disease and has to go through a long process of diagnosis (or no diagnosis). Hopefully I can convince some others to proactively have the genetic testing done so we can know for certain where it is and where it isn't. My mother's mother was an only child, but my mother's father had eight siblings, six of whom have surviving children and grandchildren. It could get interesting if anyone on that side tests positive.
So that's where we were as of early August of 2010. As indicated in the last paragraph of my note to the online support group, my focus at that point became getting the word out to the rest of the family.