The 2009 and 2011 Familial Support Group meetings were held at Muriel Finkel's place of business, Finkel Supply, in Itasca, IL. We were really a little too big for that location at the 2011 meeting, so Muriel decided to have it at a different location this year. She chose Salt Creek Golf Club in Wood Dale, IL. After breakfast at the hotel they started shuttling attendees over to the meeting location, where we were greeted with a nice welcome sign:
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Speaking of doctors, these doctors are the rock stars of the amyloidosis medical community. They are the ones who lead the way doing the research and publishing the articles on amyloidosis. They see more amyloidosis patients in a week than most doctors see during their entire career. It is quite amazing that they are willing to give up a weekend and gather in Chicago for this meeting. I am not going to go into much detail on most of the presentations because those are gradually being uploaded (as Muriel gets permission) to the familial page of the Amyloidosis Support Groups web site at this link: http://amyloidosissupport.com/support_groups/familial.html. There is also a link to a large PDF file with notes that were taken for each presentation and for the Q and A session on the second day. Look for "Familial Amyloidosis Conference Notes and Presentation" under the list of doctors at the 2013 meeting.
After Muriel said a few words the meeting started with Dr. Morie Gertz, Chair of Internal Medicine at the Mayo Clinic in Rochester. He talked mainly about the nervous system and the heart, and how ATTR amyloidosis them both. Next up was Dr. Martha Skinner of Boston University. She was director of the Boston Amyloidosis Center for 19 years, and is now officially retired as Professor Emerita. Dr. Skinner was the one who explained to us that Mom had some type of familial amyloidosis after her Boston evaluation in June of 2010, so we consider Dr. Skinner to be the doctor who diagnosed Mom. She talked about the history of familial amyloidosis and gave an overview of the various types and the percentages of each. About 15% of all amyloidosis cases are familial, with ATTR (transthyretin mutations) accounting for 10 to 12%. The five remaining types each make up less than 1% each of the total amyloidosis cases. Those five are fibrinogen, apolipoprotein A1, apolipoprotein A2, lysozyme, and gelsolin.
The next speaker was Teresa Kruiselbrink, a genetic counselor from Mayo Clinic in Rochester. She had a very good presentation about the issues with genetic testing, the benefits and limitations, and the questions an individual should ask themselves when deciding whether or not to get tested. I won't go into any more details on her presentation since I can talk for a long time about genetic testing. The conference notes have a very good summary of her talk, and I may use that as a starting point for a future blog post.
Then we took a break, and Cathy T. asked me if I had located the new person with fibrinogen amyloidosis from Arkansas, because Cathy had been looking for her as well. So we both wandered around looking at name tags during the break, but we were unsuccessful.
After the break, Dr. Annabel Wang of UC Irvine and Dr. Janice Weisman of Boston University discussed peripheral neuropathy, specifically, what is it and how does a doctor do a proper exam for it. It was during this presentation that things got interesting for me. Yes, the presentation was interesting (although fibrinogen amyloidosis rarely causes peripheral neuropathy), but what was really interesting was when my phone started vibrating. I put it on vibrate before the meeting started, and unfortunately I do not always feel it when it vibrates depending on where it is in my pocket. It turns out I had missed a phone call earlier and there were four text messages and one voicemail waiting for me. Two text messages were from my wife telling me about some good things our son was doing that day, and the other two (actually one long one divided in two) were from someone I'll refer to as SS who said she was at the meeting with her mother and daughter, all three of them had been diagnosed with fibrinogen amyloidosis, and they would like to meet me. She told me where they were sitting in the room, so I wrote her back and told her where we were sitting and that we would come over to their table at the lunch break. I did not recognize her name as the person from Arkansas, so I was quite anxious to meet this family and find out their story.
The next presentation was by Dr. Martha Grogan, a cardiologist at Mayo Clinic Rochester. I had met her previously at an amyloidosis support group meeting in Dallas in November of 2011. (Good grief it's hard to believe that was two years ago.) Her presentation was really excellent, in part due the very well done graphics and animations in the Powerpoint slides. The main takeaways from her presentation are that cardiac amyloidosis is very easily misdiagnosed because the symptoms are so similar to other more common heart ailments, and there is no particular test that can be used to test for cardiac amyloidosis. It takes more of an overall assessment, beginning with an echocardiogram. (Note: Cardiac involvement is rare with fibrinogen amyloidosis, but once you have confirmed amyloidosis in the kidneys it is important to be aware of the possibility and get some baseline measurements before problems appear.)
Then it was time to break for lunch and we finally got to meet SS, who had sent me the text message. It turns out that her mother is the one from Arkansas I was aware of before the meeting and had sent an email to. Her mother's kidneys are functioning at about 17%, so she is not on dialysis yet. SS and her daughter both have the mutation but are currently asymptomatic. So that was interesting to have three generations in one family who all have the fibrinogen mutation. We talked some during the breaks that day, but I wish we had more of an opportunity to talk.
The first presentation after lunch was from Dr. Steve Zeldenrust of Mayo Clinic Rochester. He talked primarily about TTR mutations and the use of organ transplants in their treatment. Next up was Dr. Merrill Benson of Indiana University. Dr. Benson is probably the world's foremost expert on all types of familial amyloidosis, having had a part in discovering around half of the mutations, maybe more. He discussed the non-TTR mutations, the organs affected by each one, and the use of organ transplants in their treatment. Regarding fibrinogen amyloidosis, he said that a liver transplant appears to be curative, and he would recommend getting a liver transplant before the serum creatinine levels go over 2.1. As he put it, original equipment tends to work better. If you get just a liver transplant and down the road you need a kidney, then get a kidney at that time. (Early detection is obviously important here. I'll have more to say about this subject a few posts down the road.)
Next up was Dr. Maria Picken of Loyola University. She discussed amyloidosis from the pathologist's perspective. She gave the history of Congo Red stain, which was initially used as a dye in the textile industry, and then she talked about different types of biopsies (fat pad vs. tissue from an organ). Unless I missed it, I don't think she discussed the more advanced analysis techniques like immunohistochemistry or laser microdissection. (Not to worry, I'll be reviewing some articles on that later on.)
During the afternoon break I met the husband of a fibrinogen amyloidosis patient from Washington I had swapped a few emails with in the past. I had no idea he was coming to the meeting, so that was another neat surprise. I was able to learn more about his wife's journey with amyloidosis, and it turns out she was also diagnosed after a Boston evaluation in 2010.
After the break the presentations on clinical trials began. Since all of the drug development is geared toward ATTR, the only clinical trial (in the US) applicable to fibrinogen amyloidosis is the doxycycline trial, which I wrote about back in January. Dr. John Berk from Boston was on the agenda to talk about the Diflunisal and doxycycline trials, but unfortunately the bulk of his presentation was about Diflunisal. He did talk about doxycycline toward the end of his presentation, and the main points he mentioned about it were:
1. The trial is open to patients with any type of amyloidosis as long as there is something measurable. (For fibrinogen amyloidosis that would be things like creatinine, GFR, and proteinuria.)
2. Study participants will take doxycycline twice per day for one year.
The next three presentations were about other trials for the various drugs that have been developed to treat ATTR. They weren't really applicable to us Afib patients but I still found parts of them interesting since I'm so nerdy anyway.
The last thing on the agenda for the day was a series of concurrent workshops, where there were eight areas set up where doctors were leading discussions on eight different topics and attendees were free to roam from topic to topic. I hung out at the clinical trials session the whole time, since I wanted to ask Dr. Berk some more questions about the doxycycline trial. Since all eight sessions took place in the same large room, and there were many pockets of people carrying on their own conversations, it was very hard to hear, at least in the session where I was.
I eventually was able to ask Dr. Berk two questions. First I asked if there are any fibrinogen amyloidosis patients on the doxycycline trial. He said he did not know because he had not reviewed the data. (The clinicaltrials.gov entry for this trial indicates that it started recruiting in August of 2012, and they expect to complete gathering data in December of 2014.) My second question was whether or not there was any reason to suspect that doxycycline would be particularly effective against fibrinogen amyloidosis, since the amyloid deposits are primarily in the glomeruli of the kidneys. (I was curious about this because doxycyline has been shown to be effective at breaking down amyloid deposits in vitro, which means outside the body like in a petri dish or a test tube. Since the glomeruli are essentially in the bloodstream, doxycycline that is circulating in the bloodstream would have direct access to the amyloid deposits in the glomeruli, and hopefully break them down rather quickly.) Dr. Berk thought about it for a bit and said it was an interesting hypothesis, but they have no data to say one way or another at this point. So I got the impression that he understood my line of reasoning behind the question, and the fact that he did not quickly say "no" gives me a little hope that I might be onto something. I suppose we will just have to wait for the trial results to be published to see if there are any fibrinogen patients enrolled. This brings up another reason why genetic testing and early detection are so important, because it means more people are available to participate in clinical trials.
After the concurrent workshops concluded we had dinner at the golf club and then we were shuttled back to the hotel. Next up is the Q and A session on day 2, and then the wrap-up and trip back home.
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