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:
  • 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.

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