Dallas Support Group Meeting: November 14, 2015

Today's post will cover the Dallas support group meeting I attended on November 14, 2015. If I counted correctly there were 29 attendees at this meeting, not counting the two doctors. The main guest speaker was Dr. G from Mayo Clinic in Rochester. He gave a good presentation about amyloidosis that mainly covered AL and ATTR amyloidosis and the various treatment options for those types, including currently active clinical trials. The other guest doctor was Dr. Q from MD Anderson in Houston, who I believe came at the suggestion of one of his patients who was also in attendance. MD Anderson is developing some amyloidosis expertise in diagnosing and treating mainly AL amyloidosis patients.

Of the 29 attendees, there were ten with AL amyloidosis, four with familial types, two localized, and one with wild type TTR. The remaining 12 attendees were caregivers, friends, or family members. Four or five people were attending their first meeting.

Although one of the facilitators of the support group told the group about Mom's passing near the beginning of the meeting and said some very kind words, I knew I would have to speak about it when it came my turn to talk about my experience with amyloidosis. I started fine and got through the story about how Mom's diagnosis came about, and her going on dialysis, and being on, off, and back on the kidney transplant list while dealing with various other health issues. But I struggled a little when I started to say that everything seemed to be going fine until the day she died unexpectedly due to the ruptured fistula. I had to stop for a bit, took a breath, and continued with the story. That led into my talking about what I had learned about ruptured fistulas since then, which I will discuss in a future blog post.

So I made it through my first support group meeting since Mom's passing. Maybe the next one will be a little easier for me. Or maybe not.

This post will most likely be the last one of 2015. I plan on starting 2016 with the usual year in review post, and I know there are a few articles I still need to review. I do have a few other topics planned for blog posts, so my goal is to continue posting at least monthly.

See you next year!

2015 Familial Support Group Meeting - Part 2

The previous post covered the morning of Day 1 of the 2015 Familial Support Group Meeting in Chicago. This post will cover the remainder of the meeting.

After lunch on the first day, the first three presentations were from representatives of different pharmaceutical companies (Alnylam, ISIS Pharmaceuticals, and Pfizer) that have developed drugs currently in clinical trials to treat ATTR amyloidosis. I will not go into any detail on those presentations since they deal strictly with ATTR, but some of the presentations can be viewed at this link: http://www.amyloidosissupport.org/support_groups/familial_temp.html, and summaries of all the presentations can be viewed at this link: http://files.ctctcdn.com/b2465c81401/3e266c20-d1ca-428b-8ef5-c8090c7b24b2.pdf.

The next presenter was Dr. Berk of Boston University again, who discussed some alternative treatments for amyloidosis that have been studied to varying degrees. Most of those were strictly for ATTR, but one that applies to all types of amyloidosis is doxycycline, an antibiotic developed in the 1960s that was recently discovered to have some possible benefits with regard to amyloidosis. Boston University had a recent clinical trial for doxycycline that was open to patients with all types of amyloidosis. The trial is complete but the results have not yet been published because they are still going over the data. Dr. Berk was able to tell us that 25 subjects enrolled in the trial, with five dropping out for various reasons. He did not say too much about the results, but he did indicate there were significant side effects, mainly GI issues and sun hypersensitivity.

For ATTR patients the ongoing drug development is very good news, especially given the significant progress that has been made in just the last few years. As far as drugs being developed to treat fibrinogen amyloidosis, for now it looks like our best hope will be for one of the drugs that breaks up amyloid deposits of all types.

The last presenter before the breakout sessions was Isabelle Lousada of the Amyloidosis Foundation and the Amyloidosis Research Consortium. She presented the results of a recent patient survey for ATTR patients to gather information about symptoms and quality of life issues. This survey was part of an ongoing effort to communicate with the FDA in the US about clinical trials and drug development for ATTR.

The remainder of the afternoon of the first day was used for six simultaneous breakout sessions taking place in smaller meeting rooms at the hotel. Attendees could visit whatever breakout sessions they wanted to, and move around as desired. The six topics were:

• Neuropathy
• Cardiac
• Non-ATTR Variants
• Genetic Issues
• Clinical Trials
• Caregiving and Coping

It should be no surprise that Cathy T and I attended the session on non-ATTR variants. This session was facilitated by doctors Stern and Picken, who gave presentations in the morning, and by Dr. Martha Skinner, Professor Emerita of Boston University. It was Dr. Skinner who sat down with me and Mom in June of 2010 and went over the results of Mom's Boston evaluation, called us the following month to tell us Mom had fibrinogen amyloidosis, and then called me in February of 2011 to tell me I had tested positive for the mutation. So I certainly have a special fondness for her, and in fact the only time I really teared up this entire weekend was when Dr. Gertz introduced Dr. Skinner before the breakout sessions and said some very kind words about her contributions to amyloidosis research and what she has meant to the amyloidosis community. (Or maybe my eyes got a little watery at that moment due to allergies. It's hard to know for sure.)

I am sure our breakout session was one of the smaller ones, with approximately 20 people attending in addition to the three doctors. There was not a lot of discussion about fibrinogen amyloidosis, but we did hear something interesting about liver-only transplants for AFib. You may recall from previous article reviews that there is some disagreement in the medical community about whether or not a liver-only transplant is ever an appropriate treatment for fibrinogen amyloidosis. Specifically, the National Amyloidosis Centre (NAC) in London has been reluctant to recommend liver-only transplants, instead opting for combined liver and kidney transplants for patients who are good candidates for that. Dr. Stern stated she had spoken about this to one of the doctors at the NAC, who said he would recommend a liver-only transplant in healthy patients under the age of 50. That age cutoff seems a little too low in my opinion, especially considering patients with ATTR get liver transplants into their 70s, but at least the NAC is willing to consider it and hopefully over time relax their criteria after some successes.

That wraps up Day 1 of the meeting. Day 2 was the Question and Answer session with the doctors, where attendees can submit their questions to be answered by the panel of doctors. I actually submitted the same question I submitted at the 2013 meeting, hoping to get a little better answer than I got in 2013. Here is my question:

An asymptomatic carrier of a genetic mutation develops symptoms and has a biopsy which is Congo Red positive for amyloid. Does the amyloid from this biopsy need to be typed by more advanced analysis such as mass spec?

I do think this question was answered (and asked) better this time than it was in 2013. Dr. Dispenzieri said Mayo would also do mass spectrometry on it to confirm the type, and they do mass spec on all amyloid biopsies anyway. Dr. Berk said further analysis of the biopsy would not be necessary if it fit within the clinical picture of what would be expected in the early stages of the disease. He said he would want to rule out any other cause of the amyloid, such as a plasma cell dyscrasia, so he would probably do a bone marrow biopsy to rule out AL amyloid. So that is good information to know in case I ever start developing symptoms and have a kidney biopsy that is Congo Red positive for amyloid.

The summary of the whole Q & A session is available in the PDF file at this link: http://www.amyloidosissupport.org/support_groups/fam_qanda.pdf. You can see that the questions cover a very wide range of topics, usually generating some interesting discussions. There was one question about the CPHPC trials being done in the UK, and Dr. Dispenzieri spoke about that. She said the results are encouraging and it is definitely safe, but a lot more work needs to be done. I do plan on reviewing the recently published article about the Phase 1 trials for CPHPC+antibody early in 2016, since some of the participants had fibrinogen amyloidosis.

That's about it for the 2015 meeting. My trip home was uneventful, unlike the trip home from the 2011 meeting when my luggage was destroyed, or the 2013 meeting when Mom started throwing up after we picked up our bags and then made a trip to the ER the following day.

The next post will cover the November support group meeting in Dallas.

=====Monthly Blog Status Update===== 

As of November 30, 2015:

Total posts: 160 (2 in November)

Total pageviews: 31,800 (~1400 in November)

Email subscribers: 14 (increased by 2)

Total number of countries that have viewed the blog: 106

No new countries visited the blog in November.

=====

Edit 12-31-15: Corrected country count.
Edit 3-24-16: Corrected typo in the penultimate paragraph.

2015 Familial Support Group Meeting - Part 1

Today's post was originally going to cover both days of the 2015 Familial Support Group Meeting in Chicago, but it became so long enough that I decided to cover the meeting with two posts (hopefully). I will not go into the same detail I did for the 2011 and 2013 meetings because there would be a lot of duplication.

After breakfast Saturday morning I headed to the meeting room to register early and get a good seat. Since I had seen the room the night before I knew where I wanted to sit, in a row near the front with the most leg room. So I claimed my seat and then went back up front to see if there were any other name tags I recognized as fibrinogen amyloidosis patients. The only one I saw was for Cathy T (the only liver-only transplant recipient for fibrinogen amyloidosis, as far as we know), who arrived shortly after I did. We were both attending the meeting solo this year (missed you Lon!), so we sat together and became the Fibrinogen Alliance.

The meeting started right on time at 8:00 AM with Muriel Finkel making some quick announcements before handing it over to Dr. Gertz from the Mayo Clinic in Rochester. Muriel did ask for a show of hands to see who was attending their fourth, third, second, or first familial meeting, and it looked like about half of the attendees were attending their first meeting. Based on what I think the attendance was at the four meetings (2009, 2011, 2013, 2015), it increases by about 40% each time. If that trend continues the 2017 meeting will have at least 350 attendees.

As I mentioned I will not try to summarize every presentation, but I will at least mention the items I specifically took notes on. If you want more information about the individual presentations, there are two helpful links.

First, the presentations themselves are gradually being made available at this temporary link: http://www.amyloidosissupport.org/support_groups/familial_temp.html. I believe the plan is to move those links over to the section of the Amyloidosis Support Groups web site titled "TTR & Familial" once all the presentations that are going to be available are posted.

Second, summary notes covering the Saturday presentations, taken by one of the attendees, are available at this link in a PDF file: http://files.ctctcdn.com/b2465c81401/3e266c20-d1ca-428b-8ef5-c8090c7b24b2.pdf

Moving right along, here are some of the notes I took during the meeting. Dr. Gertz showed a slide that gave the percentages of the various types of amyloidosis the patients seen at Mayo Clinic have been diagnosed with. (He probably mentioned what time period this covers, but I did not write that down.) AL amyloidosis accounts for about 62%, and ATTR accounts for about 24.5%. As if we did not already know how special we AFibbers are, fibrinogen amyloidosis patients account for only 0.63% of the amyloidosis patients seen at Mayo Clinic. Making a few assumptions and rough calculations based on some sketchy data in the back of my head, that works out to be about one person in 20 million in the US with fibrinogen amyloidosis, or 16 people total (including asymptomatic carriers like me). I am aware of nine in the US right now including myself, so statistically speaking there should be approximately seven lurkers in the US who have yet to introduce themselves.

After Dr. Berk of Boston University spoke about ATTR, Dr. Benson of Indiana University spoke about the non-ATTR variants, most of which cause renal issues. Dr. Benson brought up an important point about fibrinogen amyloidosis which we have heard before, but it is always good to repeat it since this is so important in differentiating fibrinogen from the other familial types. A liver transplant is probably curative for fibrinogen amyloidosis for two reasons:

1. Fibrinogen is only produced in the liver, so no more mutant fibrinogen is produced after a liver transplant. With ATTR, although most of the transthyretin is produced in the liver, it is produced elsewhere in the body.
2. Only mutant fibrinogen causes amyloid deposits. So once the source of the mutant fibrinogen is removed, the amyloid deposits do not increase. With ATTR it is different. Once the mutant transthyretin creates amyloid deposits, both mutant and "normal" transthyretin can add to those amyloid deposits. So removing the source of the mutant transthyretin does not stop the buildup of existing amyloid deposits.

The next presenter was Dr. Stern, a nephrologist from Boston University. This was the first time a nephrologist presented at the familial meeting. She discussed the basic function of the kidneys and explained how the kidneys and the heart work together. Once the kidney function has been affected by amyloidosis, it is best to avoid nephrotoxins (substances that are harmful to the kidneys) such as nonsteroidal anti-inflammatory drugs, IV contrast, herbal supplements, and sodium phosphate bowel preps such as Fleet products. (That reminds me, I need to schedule a colonoscopy early next year.) We will hear more from Dr. Stern during the afternoon breakout session.

Next up was Dr. Picken, a pathologist from Loyola University, who has authored or co-authored at least three of the articles that have been reviewed on this blog. One note I made during her presentation was that she strongly urged patients to request Congo Red staining for amyloid on any GI biopsies that are taken. (That reminds me, I need to schedule a colonoscopy early next year.) Staining GI biopsies for amyloid is probably more important for those with ATTR than AFib, but it still might be a worthwhile data point to have so it can be compared to the onset of kidney issues such as proteinuria or elevated creatinine.

The next presenter was Sarah Mets, a genetic counselor from Mayo Clinic. Her presentation first went over the basics of what a genetic mutation really is and why some matter and some don't. Then she discussed some of the points to consider when deciding whether or not to have genetic testing, such as being prepared to handle the results (positive or negative), how to talk to family members about it, and insurance considerations. Sarah Mets' presentation is available at the link near the beginning of this post. Unfortunately it is in PDF format instead of PowerPoint, which means some of the slides have several overlapping graphic elements such that you do not really see the slide presentation itself.

After the morning break, Dr. Weisman of Boston University spoke about neuropathy, which is usually not a concern for fibrinogen amyloidosis patients. Then we heard from Dr. Grogan of Mayo Clinic, who always gives an excellent presentation on the heart and how it is affected by amyloid deposits. The PDF version of her presentation does not include the excellent animations, but Mayo Clinic has some very good YouTube videos on cardiac amyloidosis starring Dr. Grogan. Just search for "Grogan Mayo amyloid" on YouTube and you will find them. Ok, here is a link to the first one: https://www.youtube.com/watch?v=o6u-nETEj9M.

The last presenter before lunch was Dr. Dispenzieri of the Mayo Clinic, who spoke about organ transplantation. Her presentation dealt primarily with ATTR, including the use of domino liver transplants, but the last few slides were on fibrinogen amyloidosis. One bullet point on one slide stated that among patients who get just a kidney transplant, the new kidney typically fails within 1 to 7 years, with only 5% surviving 10 years or more. She then discussed the data presented in the 2010 article by Stangou, et al, which I reviewed in the February 21, 2014 blog post. Out of the 22 patients described in that article, nine eventually received liver and kidney transplants, with five of those patients achieving long term survival. In the Conclusions slide of her presentation, she stated that for fibrinogen amyloidosis, liver plus kidney transplantation is best (when compared to kidney only.) I would agree that a liver plus kidney transplant gives a better long term outcome than a kidney only transplant, but with early detection a liver transplant (no kidney) might be the best option out of the three. The subject of liver only transplantation for fibrinogen amyloidosis was discussed in the breakout session Cathy T and I attended that afternoon, so you will have to wait for the next post for that.

Lunch time!

Next up: Part 2

2015 Familial Support Group Meeting - Getting there

This post will cover the days leading up to the 2015 Familial Amyloidosis Support Group meeting in Chicago. When Mom and I attended the familial meeting in 2013 she had dialysis in Chicago on Thursday and then not again until the Monday after the meeting, which was really hard on her. So when we planned our trip to the 2015 meeting we decided to schedule Mom for dialysis on Friday in Chicago, giving us all day Thursday to do touristy stuff in Chicago if we arrived Wednesday night. Alas, it wasn't meant to be, and making this trip without Mom meant I had two full days to myself in Chicago so I tried to make the best of it. I stayed at the Hilton at O'Hare Airport, which is where the meeting was being held on Saturday and Sunday.

We had booked a lake and river cruise for Thursday afternoon, and before traveling to Chicago I decided I just did not feel like going on the cruise by myself and would instead try to give away or sell our tickets. I took the train to downtown Chicago Thursday morning and as I walked through Millennium Park on my way to Navy Pier I decided I was feeling good enough to take the cruise after all. But when I arrived at the ticket booth there was a sign in the window stating all cruises for the day were cancelled due to weather. Well, darn. At least I was able to call their customer service number and request a full refund, so I guess that worked out after all. Then I walked to the end of Navy Pier and saw the bronze statue of America's favorite psychologist, Bob Newhart.

Bob Newhart

After eating lunch at Harry Caray's place on Navy Pier I made my way back to the train station, stopping at a few touristy spots along the way. The money museum at the Federal Reserve Bank was interesting, especially the huge glass-enclosed cube of one million one dollar bills.

$$$  A Cool Million  $$$

I would have walked around Chicago some more but it was an overcast, windy, cold day, so I called it quits early in the afternoon and headed back to the hotel.

On Friday I decided not to go into town, which turned out to be a mistake because the weather was great: sunny and not too cold or windy. I did enjoy the weather for a bit when I went for a walk outside around the hotel, and I spent most of the day alternating between getting some exercise and staring at my computer screen. (Part of my exercise routine was walking up and down the stairwell at the hotel, and for the next few days my legs frequently reminded me that I don't walk up and down stairs very often.) I did find Muriel Finkel late in the afternoon and volunteered to help her and her husband Steve unload some items for the meeting and store them in the meeting room. And that was about it for Friday since there was not an informal gathering the Friday evening before the meeting like there was for the previous two meetings.

The next post will cover the meeting itself.

=====Monthly Blog Status Update===== 

As of October 31, 2015:

Total posts: 158 (2 in October)

Total pageviews: 30,400 (~1000 in October)

Email subscribers: 12 (unchanged)

Total number of countries that have viewed the blog: 106

One new country visited the blog in October:

Slovenia

=====

Edit 12-31-15: Corrected country count.

Obituary

As expected, the last few days have been a whirlwind of activity. After three nights of going to bed around 1:00 AM, on Wednesday night I managed to be in bed just before 11:00 PM, which is only slightly later than normal for me.

The obituary has been published in two local newspapers and at the web site of the funeral home. On the day they were published in the papers I remembered an important detail about Mom that I wish I had included (breast cancer survivor), so the revised obituary will be part of this blog post.

The link to the obituary in the Dallas Morning News is: http://www.legacy.com/obituaries/dallasmorningnews/obituary.aspx?pid=176175738

That obituary was shortened due to the ridiculously high cost compared to the Denton Record Chronicle, so it just includes the basic facts.

The link to the obituary in the Denton Record Chronicle is: http://www.dentonrc.com/obituaries-headlines/20151021-linda-sue-mordecai-jennings.ece

That is the full obituary, minus the part about surviving breast cancer.

The link to the obituary at the funeral home web site is: http://www.deberryfuneraldirectors.com/home/index.cfm/obituaries/view/fh_id/13043/id/3357049

That is the full obituary. Last night I submitted a request to add the part about surviving breast cancer, and while I was typing this post it was updated.

Here is the text of the revised obituary:

Linda Sue (Mordecai) Jennings, 74, of Farmers Branch died at her home on Sunday, October 18, 2015. She was born in Denton, Texas, the middle child of Marshall O'Connor Mordecai and Vera Eloise Taliaferro, on July 19, 1941. Linda graduated from Denton High School in 1959 and from North Texas State University with a degree in Education in 1964. She spent over twenty years as an elementary school teacher in the Carrollton-Farmers Branch ISD. She was preceded in death by her husband of 25 years David Lee Jennings, both of her parents, and her older brother Wayne Mordecai.

Linda was not only a 13-year breast cancer survivor, she lived a very active life well into her senior years, including the following memorable adventures after turning 50: Parasailing in Cozumel, snowmobiling at the Continental Divide, surviving an out of control hot air balloon ride, cruising through the Panama Canal, and driving on the German Autobahn (Go granny go!). In her later years she fulfilled her love of traveling even more with her beloved companion Ed Kubala, as they traveled around the world for four years to more locations than her children can remember.

Despite being on dialysis for three years due to kidney failure caused by fibrinogen amyloidosis, Linda continued to travel whenever possible, including trips to Hawaii and a Caribbean cruise. She had recently booked another cruise for 2016. Although her travels may have slowed down, she still got great enjoyment from her grandchildren and attended as many soccer, basketball, gymnastics and band events as she could. Her grandchildren thoroughly enjoyed the weekly no-parent lunches with Nama that she started this summer.

Linda is survived by her son David Wayne Jennings (Cathy) of Plano; daughters Laura Sue Franklin (Tom) and Amy Lynn Christian (Jimmy) of Carrollton; and younger brother Michael Mordecai (Laura) of Spicewood, TX. Grandchildren include Victoria White (Trevor), Cliff Jennings, Brittany, Brian and Bradley Franklin; Connor and Cole Christian; and one great-grandchild, Cooper White.

Visitation will be Thursday, October 22, 2015 from 6:00 to 8:00 PM at DeBerry Funeral Directors in Denton. Funeral service will be Friday, October 23, 2015 at 10:00 AM in the chapel of DeBerry Funeral Directors. Burial will follow at New Hope Cemetery in Mountain Springs.

In lieu of flowers, the family asks that donations be sent to Amyloidosis Support Groups (http://amyloidosissupport.org/donations_form.html) or a charity of your choice.

An unexpected ending

Since I knew I would be away from home for the familial meeting in Chicago at the end of this month, I was planning on doing an article review this week for my October post and then some posts in November to cover the familial meeting. Well, plans change.

It with great sadness that I report that Mom died unexpectedly this past weekend, most likely Saturday night, October 17, 2015.

The last contact anyone had with her was when my sister Laura called her at 8:45 PM Saturday night, shortly after taking her back home after they attended a marching band competition one of Laura's sons was performing in. On Sunday morning I sent Mom some pictures of a project I was working on at home that I know she was interested in, and I became concerned when I did not get a reply. When I contacted both my sisters after lunch and they also could not contact Mom, I became concerned and went to her house to check on her. To say I had an uneasy feeling during that drive would be an understatement. I found her deceased at 2:30 PM.

I will spare you the detailed account of the rest of that day, but based on what I have been able to piece together it looks like Mom's AV fistula in her right arm started bleeding profusely while she was in the bathroom just before going to bed Saturday night. She was unable to stop the bleeding and made it back into her bedroom, presumably to call for help on her phone or with the medical alert device on the nightstand. She appears to have passed out due to the blood loss when she reached her bed. I really do not think it would have made any difference if she had called for help, given the ongoing bleeding.

The dialysis clinic recently stopped using Mom's buttonholes for dialysis access, and one of them was not healing very well. Mom was concerned about that due to the possibility of infection and was keeping an adhesive bandage over it. My speculation is that this buttonhole access was the source of the bleeding. Unbeknownst to me, these fistula bleeds are not terribly uncommon. We contacted a company to do the cleanup after the representative from funeral home came and went, and they told us they get four or five similar calls every year where a fistula has opened up. And they are aware of only one survivor among their cases in the past five years.

Here are the funeral arrangements:

Visitation will be Thursday, October 22, 6 PM - 8 PM
DeBerry Funeral Directors
2025 West University Drive
Denton, TX 76201

Funeral Service will be Friday, October 23, at 10:00 AM in the chapel at DeBerry Funeral Directors.

Burial will follow at New Hope Cemetery in Mountain Springs, Texas.

In lieu of flowers, the family asks that donations be made to Amyloidosis Support Groups (http://amyloidosissupport.org/donations_form.html) or the charity of your choice.

That's all I will write for now, but I'm sure there will be more at some point. I will post the obituary or a link to it once it is published. I do still plan on going to the familial meeting in Chicago next week, which is going to be difficult.

=====Monthly Blog Status Update===== 

As of September 30, 2015:

Total posts: 156 (1 in September)

Total pageviews: 29,400 (~500 in August)

Email subscribers: 12 (unchanged)

Total number of countries that have viewed the blog: 105

No new countries visited the blog in September.

=====

Spontaneous Confusion

Today's post will be an update on Mom. As you may recall, as of the previous update (July 30) Mom was fighting an infection that had essentially eaten away some vertebrae and surrounding tissue in her upper back. She also had an upcoming appointment with her cardiologist to discuss the findings of her pulmonologist regarding her heart. The cardiologist appointment was on August 6, and it was no real surprise that he said we just need to wait until the back infection is gone, then schedule a heart catheterization. I suppose it is a good thing that he did not think there was anything serious enough to justify more immediate action.

After her pain levels were significantly reduced while on the initial round of antibiotics, Mom's back pain started coming back around August 9 but not as intense as before the antibiotics started. Her bloodwork from the August 10 blood draw did show the infection marker coming back up, from a low of 3.2 to 10.1 now. (It started at 25.) Dr. L, the infectious disease doctor, was notified, and she said to stay on the oral antibiotics for now. (She had switched Mom from the IV antibiotics to oral less than two weeks prior to the back pain coming back.) The infection marker (and pain level) did start going down the following week, so it looks to me like the oral antibiotics just needed a little time to start having an effect. It probably takes a little longer in a dialysis patient anyway. On September 1 Mom had an appointment with Dr. L, and she wants Mom to stay on the oral antibiotics another two months.

On September 3 I went to Mom's appointment with Dr. S, the neurosurgeon. We were expecting to have a discussion of what her surgical options would be to repair the damage done by the infection. But Dr. S said right now it looks like her T5 and T6 vertebrae are beginning to repair on their own, and they should actually fuse together over time. He showed us the most recent MRI (August 10) and compared that to her initial one from May 26. In both MRIs the normal vertebrae appear white, very similar to the way bones look on an X-ray. The infected vertebrae appear much darker due to the lack of bone material. In the original MRI this dark area was very large such that there was very little left of T5 and T6. But in the latest MRI it is apparent that this dark area is starting to fill in with white, indicating the bone is repairing itself. Dr. S said the patient's pain will typically improve faster than the actual bone repair as indicated on the MRI images, and if all goes well she will not need any surgery. Needless to say we were very happy to hear this news from Dr. S. And of course the first thing I googled when I got home was "spontaneous spinal fusion." Neat stuff.

So we are feeling good about the antibiotics taking care of the back infection, and the fact that the vertebrae seem to be healing on their own. But there always has to be some sort of issue lingering in the background, and in this case it happens to be Mom's blood pressure. She's been on medication for high blood pressure for many years, but in late August she started having problems with low blood pressure at dialysis, as in 90-something over 40-something. Usually they can get it to come back up after dialysis by having her lie down flat and/or feeding her some soup with a moderate sodium content. One time they had to administer some saline solution via IV. She checks her blood pressure at home a few times per day, and it had been fine at home until August 25 when the systolic pressure (top number) was under 100. The nephrologist at the dialysis clinic, Dr. P, said it looks like they are removing too much fluid at dialysis so he intends to adjust her dry weight since she has gained some weight over the past few months. He also asked her to cut the dosage of one of her high blood pressure medicines in half, and if her blood pressure is low in the evening (systolic under 100), do not take the evening dose of that medicine.

As of late September she is still having issues with low blood pressure, and she usually has to stay awhile after dialysis to get it to come back up. The blood pressure medication that was previously cut in half has now been stopped altogether, so the nephrologist is still trying to get this issue under control. Another issue (unrelated to blood pressure) is that she cannot take Humira for her arthritis due to the infection, so the arthritis pain is becoming more prevalent.

The only other news is that Mom had to have another balloon angioplasty on her fistula on September 29. The doctor said he opened up two locations that were slightly restricted. The dialysis clinic has also stopped using the buttonhole technique for the dialysis needles on all their patients due to the risk of infection, so now Mom gets to experience two large needle pokes at the beginning of every dialysis session. Thank goodness for the lidocaine cream to make that a little more bearable.

One month until the familial meeting in Chicago!

=====Monthly Blog Status Update===== 

As of August 31, 2015:

Total posts: 155 (1 in August)

Total pageviews: 28,900 (~700 in August)

Email subscribers: 12 (unchanged)

Total number of countries that have viewed the blog: 105

No new countries visited the blog in August.

=====

Article Review (2013) - Delayed diagnosis of fibrinogen A alpha-chain amyloidosis after dual heart–kidney transplantation

Today's post will be our first article review since April of this year. So much for doing reviewing one article per month, right? As you can tell from the title of this post, the patient in this case underwent organ transplantation (heart and kidney) before being diagnosed with amyloidosis. Would a proper diagnosis before the transplant have made any difference? Let's see . . .

Title: Delayed diagnosis of fibrinogen A alpha-chain amyloidosis after dual heart–kidney transplantation (1)

Authors: Tristan Legris, Laurent Daniel, Valeris Moal (Marseille, France)

Journal: Transplant International (January 2013)

There is no abstract for this article since it is actually a letter to the editors of the journal. Here is the link to the article online: http://onlinelibrary.wiley.com/doi/10.1111/tri.12002/full

This article is about a male patient who had a heart attack in 2003 at the age of 55. His heart did not do well after the heart attack, despite angioplasty and implantation of a stent. He also had indications of moderate renal failure (elevated serum creatinine and and proteinuria), but that was not explored until 2004 when it worsened. His kidneys were too small for biopsy (8 cm), and no tests could explain the kidney problems. There was also no family history of renal failure. He started hemodialysis at the end of 2004 and was placed on the waiting list for combined heart-kidney transplantation, which he received in November of 2005.

The article discusses the issues with the heart over the next few years, including receiving a pacemaker in 2010. It also states there was septum wall thickening, an impaired relaxation pattern with restrictive profile, and normal ejection fraction (65%). The article also states that the septum had a "granular sparkling appearance." (Note: Those are common findings in a patient with cardiac amyloid involvement.)

In 2011 a renal biopsy showed the presence of amyloid with congo red staining. The amyloid deposits were primarily glomerular. Immunofluorescence was positive for fibrinogen, and genetic analysis found him to have the Glu526Val mutation. Then they examined some tissue from his explanted heart (the original heart that was removed for transplant) and found mild amyloid deposits. The biopsies from his transplanted heart, however, did not show amyloid deposits.

As of the writing of this article (presumably late in 2012), the patient was doing well, with mild proteinuria. The article states that recurrence of amyloid is proven in the transplanted kidney, but only suspected in the transplanted heart.

=====

As far as I know this article describes the only case of heart-kidney transplantation in a patient with fibrinogen amyloidosis. It is also an unusual case for the obvious reason that the diagnosis of fibrinogen amyloidosis was made after the transplant. As to whether that would have made a difference in this case, the conclusion of the article states the following: "The diagnosis of systemic AFib amyloidosis at the time of discovery of proteinuria would have led us to discuss combined heart-liver transplantation or heart-liver-kidney transplantation."

This patient is not the first patient described in the literature with fibrinogen amyloidosis and clinically significant heart involvement. Another patient was described in two articles reviewed in the blog on January 6, 2014. That patient presented with proteinuria at the age of 48, and then reported shortness of breath at age 51. Heart biopsies at age 53 showed amyloid involvement, and he eventually received a pacemaker and an implanted defibrillator.

The recurrence of amyloid in a transplanted kidney has been described in other articles. This one occurred about six years after transplant, which is within the normal range if I remember correctly. The fact that biopsies taken from the transplanted heart were negative for amyloid is not unusual, as that often happens in cases of AL amyloidosis with heart involvement.

It is still worth noting that significant heart involvement with AFib is rare, whereas mild involvement has been noted in some patients. My assessment of the published data indicates renal involvement can be expected to precede clinically significant heart involvement by several years. This patient's heart attack at a time when he had only mild renal involvement likely means the cause of the heart attack was something other than amyloid. My understanding is that amyloid deposits in the heart cause a gradually stiffening of the heart, reducing the ability of the heart to pump blood efficiently. So please do not worry about AFib causing a heart attack.

Next up will be an update on Mom.


=====Monthly Blog Status Update===== 

As of July 31, 2015:

Total posts: 154 (1 in July)

Total pageviews: 28,100 (~800 in July)

Email subscribers: 12 (unchanged)

Total number of countries that have viewed the blog: 105

One new country visited the blog in July.

Senegal

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Citation:

(1) Legris T, Daniel L, Moal V. Delayed diagnosis of fibrinogen Aα-chain amyloidosis after dual heart-kidney transplantation. Transpl Int. 2013;26(1):e1-3.

Back out of whack

Today's post will be an update on Mom. It is a little long, but it covers three months of drama.

In the previous update (May 26 blog post) Mom was dealing with the spot on her lung that was initially found in December of 2014 (but not reported to her until three months later) when some of that testing indicated there might be issues with her pulmonary aorta and a slightly enlarged heart. Then as I mentioned at the end of that post, she started experiencing some back pain on April 22. We will pick up the story there . . .

April 24, 2015 (Friday): Mom told me today her back is still bothering her. It is in the upper back, between the shoulder blades. She thinks she may have strained it at dialysis on Wednesday when she was trying to get up from the dialysis chair. Right now she is taking Tylenol for it.

Mom also told me that she spoke to her pre-transplant coordinator about the most recent report from her pulmonologist about what he saw regarding her heart, and the coordinator will present that to the transplant committee to see what they recommend. The coordinator also told Mom that her gastroenterologist said she is currently stable with regards to the recurring GI bleed that was an issue in 2014. So there is some good news.

April 28 (Tuesday): Mom's back pain continued through the weekend, and when the Tylenol wore off she could definitely tell. She had a regularly scheduled appointment with her rheumatologist this morning and told him about it. He said it was likely a natural progression of her psoriatic arthritis. He gave her three shots in her upper back and neck area, which gave her some very quick relief. But that relief did not last.

May 2 (Saturday): Since Mom could not find any comfortable position for her back last night, we decided she needed to go to the hospital this morning due to the ongoing pain, especially considering that she and my sister Laura are scheduled to fly to Hawaii the following Saturday. At the emergency room they took x-rays and did not find anything broken. They gave her some morphine for the pain which made her nauseous, but she eventually was able to sleep a little. They discharged her that afternoon with instructions to follow up with her physician. They gave her a prescription for Tramadol for the pain, and another anti-nausea medication.

May 5 (Tuesday): Dr. M, Mom's regular doctor (internist), thinks she has a thoracic muscle strain since she is not having any other symptoms like pain in the extremities or loss of bowel control. So for now, rather than scheduling an MRI, she prescribed Mom a Lidocaine patch to place on her back. It can be used 12 hours on, 12 hours off. We are hoping that will be enough to get her through this upcoming week in Hawaii.

May 9 (Saturday): Although Mom had a lot of back pain Friday night, she did very well on the flight to Hawaii. The one week stay in Hawaii seemed to alternate between good days and bad days. Some days she felt too bad to leave the room, whereas other days a pain pill or Lidocaine patch would alleviate the pain enough for her to get out and enjoy herself.

After returning from Hawaii, Mom finally had an MRI and x-ray done on Tuesday, May 26. She says the pain seems to be concentrated in a very specific spot on her upper back, just under where her bra sits. Then on that Friday her back pain was the worst it has ever been, and she cancelled a planned weekend trip to Austin for a graduation party.

June 4 (Thursday): After the MRI results came in, Mom had an appointment with a neurosurgeon, Dr. S of Texas Back Institute. The MRI shows one disc in Mom's upper back is either very inflamed or has a lot of fluid around it, or both. He thinks it is most likely discitis, which is an infection. The next step is to get some blood work to confirm it is an infection. Dr. S also wants to get a CT scan of that area to get a better view of exactly what it looks like. If the blood work does not indicate an infection then they may need to do a needle biopsy of that area. Mom had the blood work and CT scan on June 9.

June 10 (Wednesday): Dr. S called Mom and said the blood work definitely indicates she has an infection, and it will need to be treated with antibiotics either in a hospital or at dialysis. They need to know what type of infection it is to determine which antibiotics she needs, so now they are waiting on some cultures from the blood work, which will take another two days.

Dr. M then called Mom and said she wants to proceed with the biopsy so they don't lose time if the cultures do not indicate the type of infection. The biopsy is scheduled for Friday, June 12, and in the meantime they decided to start giving Mom antibiotics at dialysis this Saturday.

June 12 (Friday): My wife Cathy took Mom to the hospital for the biopsy today (outpatient procedure). There were no complications and the doctor talked to Cathy after the procedure and said everything went fine. Then it became interesting when Cathy was talking to Mom in the recovery room. Mom said the doctor told her the infection had significantly eaten away at one vertebrae and the cartilage around it, and depending on how much damage has been done it may require surgery to clean it up. Regarding the antibiotics, he said she would probably be on them for months since the infection has reached her bloodstream as indicated by the fever that started the day before. So that is a little more information than we had previously.

June 13: At dialysis today Mom was given the first of the two antibiotics that have been prescribed, and she will be given both of them at dialysis starting Monday, June 15. I suspect they are starting her on antibiotics without knowing exactly what type of infection she has because it has progressed so far.

June 18 (Thursday): Dr. M referred Mom to an infectious disease specialist, and Laura took her to that appointment today. The infectious disease specialist, Dr. L, said it could take up to three weeks of antibiotics before Mom sees some pain relief. Given how far along the infection is, she suspects Mom developed some type of staph infection during one of the times her permacath got infected in 2012 or 2013. Dr. L wants to treat the infection with antibiotics first instead of doing surgery to manually remove the infection, because there may be a future need to have surgery to repair the damage or insert rods for support.

July 1 (Wednesday): Mom's nephrologist told her today that her blood work indicates that the antibiotics are working. She is also doing better now with the pain, taking less pain medication and getting more sleep at night.

July 23 (Thursday): The infection markers have consistently dropped week to week since starting the antibiotics. I do not know what these numbers are measuring or what the units are, other than lower is better, but here are the weekly numbers so far: 25, 16, 10.8, 5.1. That is definitely a good trend.

July 28 (Tuesday): Mom had another appointment today with Dr. L, the infectious disease specialist. The infection is definitely going down, and Dr. L is switching Mom to an oral antibiotic.

July 30 (Today!): Mom had an appointment with the neurosurgeon, Dr. S. He said if the antibiotics work then the bone (vertebrae) may heal and fill in on its own. If it does not, and nothing is done about it, she will start stooping over more and more, which he does not want to happen. He took an x-ray today, and depending on the x-ray he will schedule an MRI or CT scan before he sees her again in 4 weeks.

As of the writing of this blog post, Mom seems to be on the mend although not totally free of back pain. But at least any pain now is much less intense than previously, and it does not last nearly as long.

Throughout all of this episode with the back pain we have not thought much about the possible heart issues the pulmonologist noted in his report in April. But Mom has an appointment with her cardiologist next week to discuss that. So the next update on Mom in a month or two should have plenty of things to report.

The familial meeting in Chicago is only three months away!


=====Monthly Blog Status Update===== 

As of June 30, 2015:

Total posts: 153 (1 in June)

Total pageviews: 27,300 (~500 in June)

Email subscribers: 12 (unchanged)

Total number of countries that have viewed the blog: 104

No new countries visited the blog in June.

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Dallas Support Group Meeting: June 6, 2015 (plus some handy handiwork)

Today's post will cover the most recent meeting of the Dallas Amyloidosis Support Group which occurred on June 6, 2015, followed by the always exciting monthly blog stats. But first I want to mention something totally off-subject that I finally had a chance to document after this particular meeting.

The Dallas support group meetings are held on the lower level of one of the hospital buildings at Baylor University Medical Center. Just one floor up, right there in the lobby, is the Adrian E. Flatt, M. D., Hand Collection. A collection of hands? That sounds gross, doesn't it? Well these are not actual hands, but rather bronze-coated casts of the hands of famous people. Dr. Flatt, who was chief of orthopedic surgery at Baylor from 1982 to 1992, began doing this as a hobby in 1952. His collection now includes more than 100 pairs of hands from people of many different professions such as sports, entertainment, medicine, politics, science, etc. Here is a picture I took of one of several walls of this display, to give you an idea of what it looks like:

Adrian E. Flatt, M. D., Hand Collection

It was difficult to get good pictures in there due to the glare of the overhead lights on the glass, but here is one of my favorites:

Wilt and Willie

Those are the hands of basketball player Wilt Chamberlain (7' 1") next to those of jockey Willie Shoemaker (4'11").

Anyway, here is a link with some more information and better pictures:  http://www.juliatexas.com/historichands.htm. If you are ever in the lobby of Truett Memorial Hospital at Baylor in Dallas, look for the hands. Somehow I was attending support group meetings there for three years before I noticed them.

Back to the main topic of today's post, the June support group meeting. The attendance at this meeting was rather low (19) compared to some previous meetings with over 40 attendees, but I suppose summer vacations can account for a lot of that. The guest speaker was Dr. B from Mayo Clinic in Rochester, who talked initially about AL amyloidosis and then briefly touched on the other types. Then he talked about the various clinical trials that are in process and how they differ in terms of the approach to treating amyloidosis, whether it's stopping the production of the misfolded proteins or helping the body eliminate them.

Of the 19 attendees, ten were patients and nine were friends or family members of patients (including two women whose husbands had lost their battle with amyloidosis). There were 4 AL amyloidosis patients and then one or two each with localized, ATTR, other familial, or wild type TTR. I believe there were only one or two patients who were attending their first support group meeting.

That's it for today's post, which is barely making it out before the end of June. Maybe the July post will be before July 31. Or not.


=====Monthly Blog Status Update===== 

As of May 31, 2015:

Total posts: 152 (1 in May)

Total pageviews: 26,700 (~800 in May)

Email subscribers: 12 (unchanged)

Total number of countries that have viewed the blog: 104

2 new countries visited the blog in May:

Liberia
Palestine

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Edit 7-1-15: Corrected one month in Monthly Blog Status Update

What we've got here is . . . failure to communicate.

Today's post will be an update on Mom, followed by the always exciting monthly blog stats at the end. The record six-month dry spell without any new countries visiting the blog (twice as long as the previous record) finally ended in April. It did not end quite like the recent dry spell in Texas ended, but it did end nonetheless.

As I mentioned in the previous post, now that Mom is back on the list for a kidney transplant she has to be evaluated annually by the pre-transplant group. She had an appointment on March 25, and when they were going over her medical records we realized there has been some miscommunication over the past few months, hence the title of this post (borrowed from the excellent 1967 movie "Cool Hand Luke," starring Paul Newman).

There were two obvious examples of miscommunication uncovered during this appointment, one of which was really upsetting.

The first miscommunication was that the pre-transplant group was not aware of Mom's GI bleeding episodes in 2014, when she was hospitalized on three separate occasions. I know I informed Mom's coordinator about those, and I found the emails I sent to her for two of those hospitalizations, telling her when and where she was hospitalized and giving the doctors' names and phone numbers. I never got replies to those emails, so I know going forward that I need to follow up those emails with a phone call.

The second miscommunication was a much greater concern than the first one. You may recall that Mom was hospitalized overnight this past Christmas Eve due to chest pains and an increased heart rate (http://fibrinogenamyloidosis.blogspot.com/2015/01/happy-new-year.html). She had a chest x-ray, EKG, and a chemical stress test during that stay. No abnormalities were found and she was released the following day. Well, we only thought no abnormalities were found. At this March 25 appointment with the pre-transplant group she was told that the chest x-ray showed a spot on her lung, and they asked her if she had seen a pulmonologist about that. No, she has not seen a pulmonologist about that because the hospital did not say anything about it. My sister Amy was there with her when she was brought to the ER until she was admitted, and I picked her up when she was discharged the next day. Amy did not hear anyone say anything about a spot on her lung, and I know I looked over the discharge papers and there was nothing about it there. So now we have something else to worry about in addition to the heart palpitations. Great. Here is a chronology of events that occurred during the next few weeks as we tried to address that:

March 27, 2015 (Friday): I accessed Mom's online medical records at the hospital where she was admitted an Christmas Eve, and I could get the written reports but not the images. The written report on the chest x-ray did say there was a 10 millimeter spot on one lung, and a few other spots that were considerably smaller ( 3 to 4 mm). Oh by the way, the report also recommended the patient follow up with a pulmonologist, which would have been nice to know three months ago. I printed out that report for Mom to take to her pulmonologist on Monday, March 30.

March 30: Mom had an appointment with her pulmonologist, Dr. M. He does need to see the images from December, and he wants her to have another CT scan for comparison so he can see what changes, if any, have occurred in the past three months. He said there are three possibilities:

• If the spot has gotten smaller since December, that is good and they won't do anything.
• If the spot has gotten larger since December, they will remove it and do a biopsy. (Removing a spot from the lung is a major surgery.)
• If the spot is the same size it was in December, one option is to do nothing and just monitor it. But that would keep Mom off the transplant list for two years. The other option is to remove it and do a biopsy.

So that is a lot to think about, but first we need to get the new CT scan.

April 6 (Monday): Mom received a letter from the pre-transplant group stating her status was changed to Hold due to the pulmonary nodules (spots on the lung) and the GI bleed. That was not really a surprise, given everything currently going on.

April 7: Mom had the CT scan today (Tuesday) and she was told the results should be sent to her pulmonologist's office by Friday.

April 14 (Tuesday): Mom has left several messages with the office of her pulmonologist (Dr. M), but has yet to hear anything from them about scheduling another appointment to go over the results of the latest CT scan. She does not even know if they have received those latest CT scan results. She spoke to her new coordinator at the pre-transplant group about it, and she offered to get those results and mail them to Mom, which she did.

April 17 (Friday): Mom still has not heard anything from Dr. M's office, but she did get the latest CT scan results. She could not understand it, but she is going to bring it to me when we meet at a restaurant for a birthday dinner on Sunday.

April 19 (Sunday): I looked at the CT scan results Mom had received in the mail, and something did not seem quite right. It began by stating the indication for the scan was respiratory failure, and it was being compared to yesterday's exam. Well, Mom does not have respiratory failure as far as we know, and there was no "yesterday's exam" because this scan was done more than three months after her previous one. But I kept reading and noticed there was no mention of nodules on the lungs, and then the real surprise was this sentence: "Left chest wall pacing device is seen with leads in the right heart chambers, unchanged." Yes, that is a description of a pacemaker. No, Mom does not have a pacemaker. Although her name and birth date were at the top of this report, and the date of the exam was correct, this was definitely not a report of Mom's CT scan. Oh, good grief . . . <Insert title of this post here.>

April 20 (Monday): Mom called the clinic that did the April 7 CT scan, and she eventually convinced someone that a mistake had been made in the report. The person she spoke to called her back later in the day and said he had the correct report and Mom can pick it up. So Mom planned on doing that the following day (Tuesday), and then going to Dr. M's office in person to try to schedule an appointment since they won't call her back.

April 21: Mom picked up the correct CT scan report and the disc with the images this morning, then went directly to Dr. M's office to schedule an appointment. Surprisingly she was able to see Dr. M while she was there. Mom learned that he had been getting the messages from Mom, but there was some miscommunication in his office about what was supposed to happen next or who was supposed to do what, so nobody ever called Mom back. <Insert title of this post here.> Mom did tell him she was not happy about all that.

Anyway, this appointment was not without its surprises. Dr. M said there was no sign of the 10 mm nodule, but there were a few nodules about 4 mm in diameter. Of greater concern, however, is the pulmonary aorta. He said there are signs of a slightly enlarged heart on the left side, and he recommends that she have a heart catheterization to check that before she has a kidney transplant.

In all of Mom's various heart tests until now, there has never been any mention of an enlarged heart or issues with the pulmonary aorta. Her cardiologist has always said her heart itself is fine. So now all of this information needs to be submitted to the pre-transplant group to see what they recommend, which will impact how soon Mom needs to see her cardiologist. Maybe the pulmonologist is being very conservative, or maybe something has recently changed, or maybe this most recent CT scan captured some images of an area that had not been imaged before. At this point all we can do is speculate.

As if all that was not enough to worry about, Mom started experiencing some back pain on Wednesday, April 22. That seems like a good point to end this post.



=====Monthly Blog Status Update===== 

As of April 30, 2015:

Total posts: 151 (1 in April)

Total pageviews: 25,800 (~1600 in April)

Email subscribers: 12 (unchanged)

Total number of countries that have viewed the blog: 102

1 new country visited the blog in April:

Oman

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