In our previous episode of As The Amyloid Turns, Mom and I had just arrived at DFW Airport on Sunday, October 27, after attending the 2013 Familial Support Meeting in Chicago. Mom was exhausted due to not having her CPAP machine for three nights, her blood pressure was high, her most recent dialysis was three days ago, and now she was throwing up. She said she felt a little better after throwing up, and she suspected it was the tuna sandwich she had for dinner at the Cincinnati airport. Since she and I split that sandwich and I felt fine, I had my doubts as to whether it was indeed food related. The shuttle van for the parking lot came to pick us up, and we made the trip to my truck without incident.
On the drive home Mom threw up just a little more (in a plastic bag, thank goodness.) She said she was not having any chest pains or shortness of breath, so I did not feel like it was an emergency room situation at that point. We got to her house and she still said she was not having any chest pains or shortness of breath, and we felt like she was just very tired and needed a good night of sleep with the CPAP machine. So she was going straight to bed, and I went on home, more than a little worried that she might not be able to drive herself to dialysis Monday morning.
My sister Laura called me Monday morning a little before 9:00 AM and said she had been unable to reach Mom on her cell phone. I knew Mom was going to try to get into dialysis early, so I called the dialysis clinic to see if she was there. They said she was not, which got me a little worried. I called her home number first and she answered. She said she had thrown up some more overnight and just did not feel like getting up and going to dialysis. So I started making phone calls to find out who could take Mom to dialysis and when could the clinic take her. In the meantime we found out that she had a mild fever, so the clinic recommended we take her to the emergency room given the fever and the nausea. My sister Laura took Mom to Plano Presbyterian hospital around 11:30 AM.
Laura called my home phone and spoke to my wife a little after noon and said Mom was really incoherent in the ER and her blood pressure was 236/114. So I left work (home) and headed to the hospital. When I got to Mom's room in the ER both my sisters were there, and I saw on the monitor that Mom's blood pressure was just a little over 200. Mom seemed tired but somewhat coherent, so things appeared to be under control. An ER doctor came in and said they were still waiting on the results of the blood tests, but Mom likely just needed dialysis. He said they would be giving her some clonidine intravenously to help bring the blood pressure down. Laura left shortly after the ER doc did, and I stayed a little longer. While I was there a nurse walked in, looked at me and Mom, and said, "Hey, I remember you guys." I recognized her, too. She was Mom's ER nurse on her June 3 visit to the ER, described in the June 18, 2013 blog post. I filled her in on what was going on and I stayed a little longer. Not much was happening in the ER, and Mom's blood pressure was slowly going down, so I went back home.
I had been home less than an hour when my sister Amy called and said the blood work showed Mom's potassium was high. The doctor suggested she have dialysis at the clinic today if possible, because she would have to be admitted in order to have dialysis at the hospital, and she probably would not have dialysis until the following morning (Tuesday). So I called the clinic to see if they could take her, and they said they could. My sister Amy could not take Mom to dialysis due to something she had to do, so I went back to the hospital and took Mom to dialysis after she was finally discharged. I could tell she was simply exhausted on the way there, and not altogether there, especially when I received a phone call from Laura on the way and Mom did not even ask me who called or anything about the phone call.
My sister Amy took Mom home after dialysis, and Laura and Amy were both there to help her eat a little food, take her evening medicine, and get to bed with her CPAP machine. They said she was really exhausted and incoherent. So for the second night in a row, Mom went to bed not doing too well. Hopefully getting a full night of sleep with the CPAP machine will get her a little closer to normal. Well . . .
She felt much better Tuesday morning after a good night's sleep. Maybe not as good as new, but definitely better than she felt on Monday. She happened to already have an appointment Tuesday with her internist for a routine checkup, and my sister Amy took her to that. We will cover that appointment in the next post.
Sunday, November 10, 2013
Tuesday, November 5, 2013
2013 Familial Support Group Meeting - Day 2
This post will cover Day 2 of the 2013 Familial Support Group meeting, which was Sunday, October 27. After breakfast at the hotel Sunday morning we were shuttled back over to the meeting location. The agenda for today was a question and answer session all morning with the doctors, where people could submit their questions either in writing or by sending an email to Muriel. I had emailed a question to Muriel the night before asking about getting a tissue biopsy analyzed when you already know your mutation. The doctors always state that the only way to know a person truly has amyloidosis (of any type) is to confirm the presence of amyloid in a tissue biopsy. Congo Red staining will confirm the presence of amyloid deposits, but that alone does not tell the pathologist what type of amyloidosis the patient has. The specific protein making up the amyloid deposits is needed to make that determination, and there are additional stains or other methods that can be used for that. So in my question I set up the scenario where a patient knows what mutation he or she has due to genetic testing, and then they start to develop symptoms and get a biopsy. Then my question was:
"If Congo Red staining shows biopsy is positive for amyloid, does that biopsy need to be analyzed further by one of the more advanced methods in order to type the amyloid, or is the Congo Red staining sufficient to confirm amyloidosis so this patient can pursue clinical trial and/or organ transplant options?”
Since this could be my scenario some day, I have wondered what would be the best thing to have done to my kidney biopsy if I ever have one. Should I insist that it be sent to the Mayo Clinic for a full analysis, or, since my mutation is known, is it sufficient to have it analyzed at whatever local pathology lab it would typically go to, as long as they know to do the Congo Red stain?
The meeting started, with Dr. Gertz of Mayo Clinic moderating the Q and A session. He would read the questions and assign them to whatever doctor or doctors he felt could answer it best. He did tend to group similar questions together and there were a lot of very good questions asked. The notes from today's session are also included in the PDF file available for download at the Amyloidosis Support Groups web site. On the familial page, look for "Familial Amyloidosis Conference Notes and Presetation" below the list of doctors for the 2013 meeting. Here is the direct link to the PDF file: http://amyloidosissupport.com/13fam.pdf. The Q and A session begins on page 37 of the October 31, 2013 version of the file.
So at this point it was a matter of sitting back and listening to the questions and answers. The majority of the questions were not directly applicable to fibrinogen amyloidosis, but I found most of the discussion very informative and I had no trouble staying awake. Mom, on the other hand, did have a bit of trouble. Well, she had a lot of trouble staying awake. I had noticed after we got to the hotel Saturday night that she seemed a little tired although it was only about 7:00 PM. I realized she had not brought her CPAP machine on this trip, so two nights of sleeping without it was starting to catch up to her. She also checked her blood pressure and found it was high, so she took the pill that she is supposed to take as needed when her systolic pressure (top number) is over 180. Sunday morning at the hotel it was high again, and she got tired just rolling her suitcase down to the lobby. Now here we are at the meeting Sunday morning, and she simply cannot stay awake. I feel very confident in stating she was asleep more than she was awake. At least twice I suggested that she simply give up and lay her head down on the table.
As the scheduled end time for the meeting was approaching, I was starting to wonder if Dr. Gertz would ever get to my question. He finally did, but instead of setting up the scenario I presented, here is what he asked: "Is Congo Red staining sufficient to confirm amyloidosis so a patient can pursue clinical trial and/or organ transplant options?” That, of course, leaves out the most important part of my scenario, about the patient already knowing what mutation they have. He gave the question to Dr. Angela Dispenzieri of Mayo Clinic, and she began by saying something about it depends on whether or not the patient is a known carrier. She did quickly say that typing the biopsy was not all that critical in that case, and then she spent the rest of her time talking about other techniques for analyzing biopsies. So I did get my question answered, and the last page of the PDF file with notes from the meeting also has my question and says that typing the amyloid in a tissue biopsy is not necessary if the mutation in the patient's family is already known. I have made some minor changes to the "What should I do now?" page as a result.
Here are some of my random thoughts about the meeting and a few things I learned, in no particular order:
The meeting wrapped up after lunch, and we said our goodbyes and waited for the van to take us to the airport. Mom got wheelchair assistance at the airport, which was an absolute necessity given how far we would have had to walk otherwise. It was nice to get ahead of the long security line, too. We caught a connecting flight in Cincinnati and had dinner there.
Mom was very tired during most of the flight from Cincinnati to DFW. Initially she was cold, but near the end she got up to use the restroom and I could tell when she came back to the seat that she wasn't doing well and seemed to be getting warm. We landed at DFW a little after 9:00 PM, and Mom had wheelchair assistance as far as baggage claim, which again was definitely necessary given the distance from the gate. They were having some sort of technical difficulty getting that baggage claim carousel started, and I jokingly told Mom I hoped the problem was not due to my bag getting stuck and chewed up somewhere along the way. Some of you may remember my baggage claim experience after the Familial Meeting in 2011, when my suitcase came out looking like this:
After the carousel started I anxiously waited for our bags to come out, and they finally appeared, undamaged. Now we needed to get downstairs to catch the shuttle to where my car was parked off-airport. There was no good way I would be able to push Mom and pull all of our luggage at the same time, but it was a relatively short walk to the elevator to go down so I figured Mom could make it. We got downstairs, walked outside, and then before I could call the parking lot to ask them to come pick us up in the shuttle van, Mom started throwing up.
This post seems long enough, and it has been a few months since we had a good cliffhanger episode, so our story will continue with the next post.
"If Congo Red staining shows biopsy is positive for amyloid, does that biopsy need to be analyzed further by one of the more advanced methods in order to type the amyloid, or is the Congo Red staining sufficient to confirm amyloidosis so this patient can pursue clinical trial and/or organ transplant options?”
Since this could be my scenario some day, I have wondered what would be the best thing to have done to my kidney biopsy if I ever have one. Should I insist that it be sent to the Mayo Clinic for a full analysis, or, since my mutation is known, is it sufficient to have it analyzed at whatever local pathology lab it would typically go to, as long as they know to do the Congo Red stain?
The meeting started, with Dr. Gertz of Mayo Clinic moderating the Q and A session. He would read the questions and assign them to whatever doctor or doctors he felt could answer it best. He did tend to group similar questions together and there were a lot of very good questions asked. The notes from today's session are also included in the PDF file available for download at the Amyloidosis Support Groups web site. On the familial page, look for "Familial Amyloidosis Conference Notes and Presetation" below the list of doctors for the 2013 meeting. Here is the direct link to the PDF file: http://amyloidosissupport.com/13fam.pdf. The Q and A session begins on page 37 of the October 31, 2013 version of the file.
So at this point it was a matter of sitting back and listening to the questions and answers. The majority of the questions were not directly applicable to fibrinogen amyloidosis, but I found most of the discussion very informative and I had no trouble staying awake. Mom, on the other hand, did have a bit of trouble. Well, she had a lot of trouble staying awake. I had noticed after we got to the hotel Saturday night that she seemed a little tired although it was only about 7:00 PM. I realized she had not brought her CPAP machine on this trip, so two nights of sleeping without it was starting to catch up to her. She also checked her blood pressure and found it was high, so she took the pill that she is supposed to take as needed when her systolic pressure (top number) is over 180. Sunday morning at the hotel it was high again, and she got tired just rolling her suitcase down to the lobby. Now here we are at the meeting Sunday morning, and she simply cannot stay awake. I feel very confident in stating she was asleep more than she was awake. At least twice I suggested that she simply give up and lay her head down on the table.
As the scheduled end time for the meeting was approaching, I was starting to wonder if Dr. Gertz would ever get to my question. He finally did, but instead of setting up the scenario I presented, here is what he asked: "Is Congo Red staining sufficient to confirm amyloidosis so a patient can pursue clinical trial and/or organ transplant options?” That, of course, leaves out the most important part of my scenario, about the patient already knowing what mutation they have. He gave the question to Dr. Angela Dispenzieri of Mayo Clinic, and she began by saying something about it depends on whether or not the patient is a known carrier. She did quickly say that typing the biopsy was not all that critical in that case, and then she spent the rest of her time talking about other techniques for analyzing biopsies. So I did get my question answered, and the last page of the PDF file with notes from the meeting also has my question and says that typing the amyloid in a tissue biopsy is not necessary if the mutation in the patient's family is already known. I have made some minor changes to the "What should I do now?" page as a result.
Here are some of my random thoughts about the meeting and a few things I learned, in no particular order:
- This a great group of doctors that come together for these meetings. They can explain things very well, they have a lot of respect for each other even though they disagree at times, and they are not afraid to admit when they do not know something.
- I learned some things about transthyretin mutations (ATTR amyloidosis) that I was unaware of before the meeting. I had heard the term "wild type TTR" for some time and eventually learned that "wild type" really means "normal" in that context (as opposed to mutated), but what I did not know was that even after a liver transplant, the existing amyloid deposits can serve as a base for the normal TTR to continue to build on. That is why a liver transplant is far from being a cure for patients with ATTR. Patients who have received liver transplants for ATTR are a little frustrated at their inability to participate in clinical trials, and understandably so since their symptoms do tend to progress.
- Like at the last meeting, attending this meeting does make me think that we fibrinogen patients are somewhat fortunate not to have an ATTR mutation, given the peripheral neuropathy, gastro-intestinal, and cardiac issues often associated with those. Generally speaking, it seems like the ATTR mutations have more impact on a person's quality of life (not that dialysis is a cake walk, either.)
- Although the majority of the meeting is geared toward those with ATTR mutations, I still think it is worthwhile for patients with one of the rarer mutations like fibrinogen to attend for a couple of reasons. First, just like at the local support group meetings, there is some benefit to meeting others with any type of amyloidosis and sharing stories of diagnosis, impact on quality of life, impact on the family, etc. Second, this is likely the only opportunity to meet others outside of your family with the same mutation. At the 2009 meeting I believe Cathy T. was the only fibrinogen patient in attendance. At the 2011 meeting there were two families represented, and at this year's meeting there were four families represented. I do intend to give Muriel some ideas on how to make the meeting more beneficial to those with non-TTR mutations, with the understanding that it will be difficult to clone Dr. Benson.
The meeting wrapped up after lunch, and we said our goodbyes and waited for the van to take us to the airport. Mom got wheelchair assistance at the airport, which was an absolute necessity given how far we would have had to walk otherwise. It was nice to get ahead of the long security line, too. We caught a connecting flight in Cincinnati and had dinner there.
Mom was very tired during most of the flight from Cincinnati to DFW. Initially she was cold, but near the end she got up to use the restroom and I could tell when she came back to the seat that she wasn't doing well and seemed to be getting warm. We landed at DFW a little after 9:00 PM, and Mom had wheelchair assistance as far as baggage claim, which again was definitely necessary given the distance from the gate. They were having some sort of technical difficulty getting that baggage claim carousel started, and I jokingly told Mom I hoped the problem was not due to my bag getting stuck and chewed up somewhere along the way. Some of you may remember my baggage claim experience after the Familial Meeting in 2011, when my suitcase came out looking like this:
 |
| David's suitcase after 2011 Familial Meeting |
After the carousel started I anxiously waited for our bags to come out, and they finally appeared, undamaged. Now we needed to get downstairs to catch the shuttle to where my car was parked off-airport. There was no good way I would be able to push Mom and pull all of our luggage at the same time, but it was a relatively short walk to the elevator to go down so I figured Mom could make it. We got downstairs, walked outside, and then before I could call the parking lot to ask them to come pick us up in the shuttle van, Mom started throwing up.
This post seems long enough, and it has been a few months since we had a good cliffhanger episode, so our story will continue with the next post.
Sunday, November 3, 2013
2013 Familial Support Group Meeting - Day 1
Today's post will cover Day 1 of the 2013 Familial Support Group meeting, which was Saturday, October 26. The monthly blog stats are at the end, and once again you may need an atlas to find all five of the new countries that visited the blog for the first time last month.
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:
After picking up our name tags and a hot-off-the-presses copy of the very well done Amyloidosis Awareness brochure, we sat in the large meeting room. The projected attendance for the meeting was around 230 patients and caregivers, although I recently read a comment indicating the actual attendance was closer to 210. In any case, we were still packed in there tightly. The golf club literature says they can accommodate groups of 200, so you might say we were slightly over capacity, especially when you add about 15 doctors and pharmaceutical reps to the group.
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.
=====Monthly Blog Status Update=====
Total posts: 106 (5 in October)
Total pageviews: 8600 (~1000 in October)
Email subscribers: 6
Total number of countries that have viewed the blog: 79
5 new countries viewed the blog in October:
Burkina Faso
Lithuania
Belarus
Mongolia
Bangladesh
=======
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:
 |
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.
=====Monthly Blog Status Update=====
Total posts: 106 (5 in October)
Total pageviews: 8600 (~1000 in October)
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Total number of countries that have viewed the blog: 79
5 new countries viewed the blog in October:
Burkina Faso
Lithuania
Belarus
Mongolia
Bangladesh
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