Thursday, November 29, 2012

November 2011

This post will cover some interesting activity and correspondence that was happening in November of 2011, plus one thing I forgot about from October.

October 21, 2011  --  Mom and I attended a class that Mom's nephrologist office (Dallas Nephrology Associates) provides to patients with chronic kidney disease (CKD). The first part of the class covered some basic topics such as:

  • What do the kidneys do
  • What causes Chronic Kidney Disease (CKD)
  • What are the stages of CKD
  • How is kidney function is measured (primarily by Creatinine level and GFR)
  • How can you slow down the progression of CKD
  • What are some symptoms of CKD

It was a lot of material but at least they gave us printouts of the PowerPoint slides.

The second part of the class covered the treatment options for kidney failure, which are:

  • Kidney transplant
  • Hemodialysis
  • Peritoneal Dialysis
  • No treatment

There wasn't much discussion of the "no treatment" option, but they went over the basics of each of the other three options, describing the process and giving the pros and cons of each one. Mom and I knew about peritoneal dialysis and had talked a little about peritoneal dialysis vs. hemodialysis before attending this class, and the class confirmed that she should opt for peritoneal dialysis if and when she gets to that point. It seems like peritoneal is much more flexible than hemodialysis, since you do it at home, it's easier to travel, and it doesn't tie you down to visiting a dialysis clinic (somewhere) three times a week. (There is a home hemodialysis option, but that requires someone to be with the patient during dialysis, which wouldn't be an option for Mom.) At this point we could only guess how long it would be before Mom needed dialysis, and her nephrologist hadn't given her any indication of when it would be. We were guessing dialysis was at least two years away.

November 3, 2011  --  You may recall from my September 13, 2011 post that I made contact with another person who has the fibrinogen mutation, who I referred to as NL from South Africa. I can now tell you that "NL" has graciously allowed me to use her full name, which is Nicola Lloyd. After Mom and I got back from Chicago I sent Nicola an email about the familial meeting, and she wrote me back with two very interesting bits of info.

  • First, she was preparing to travel to London for an evaluation at the UK National Amyloidosis Centre. As far as I know that is the center of experience for amyloidosis in Europe, so it's like going to Boston or Mayo in the US.
  • Second, she had used the letter I sent to Mom's cousins as a guide for writing a letter to her cousins, and she had already gotten responses from cousins in Australia and the UK. It seems there is a history of kidney problems with some of her relatives, so her communication may help some of them more quickly obtain a proper diagnosis if they have the fibrinogen mutation. Stories like that give me the warm fuzzies.

November 17, 2011  --  After returning from London Nicola sent me an email about her trip to the National Amyloidosis Centre. Highlights of that email were:

  • They can do a full-body scan for amyloidosis there called an SAP scan, which gives a graphical representation of where amyloid deposits are in the body. Based partly on the results of that scan, her amyloidosis does appear to have been detected early. Good news there.
  • The doctors at the UK National Amyloidosis Centre (NAC) are not quite sold on the idea of doing liver only transplants for patients with fibrinogen amyloidosis. Recall that Cathy Tidwell had a liver transplant in 2010 at UCSF. I found out later that the doctors at the NAC were unaware of that until they heard it from Nicola, and they were interested in contacting Cathy to find out more details.
  • Remember our CPHPC update in October of 2010? Well, as of November of 2011, CPHPC had been used in 30 patients with all types of amyloidosis. [Link to journal article is here.] The results have been good and show the amyloid deposits being reduced. (I assume that is determined primarily by the SAP scan mentioned above.) Supposedly this initial trial will last another six months. The doctors indicated that Nicola might be a candidate for the next round of clinical trials with CPHPC.

Next up: Looking for a liver

[Edited January 12, 2013: Added link to journal article in last paragraph.]

Monday, November 26, 2012

November 12, 2011 - Amyloidosis Support Group Meeting

While looking through the notebook I use to keep notes of amyloidosis support group meetings and amyloidosis-related doctor appointments, I realized I totally skipped over the support group meeting in March of 2011. So this post will actually cover two meetings. (Well, three if you count the one I missed.)

March 12, 2011

Mom and I both attended the support group meeting in March of 2011. It was Mom's first meeting, so I was happy to finally introduce her to the group since I'd been talking about her for a year. The medical guest at this meeting was Dr. M from Baylor, who was also the medical guest at the first support group meeting I went to in March of 2010. There were a total of 29 attendees, including Muriel Finkel. Since this meeting was about a month after I had tested positive for the fibrinogen mutation, I got to announce that news to the group after I told Mom's story. Counting me and Mom there were 12 patients plus one other person there on behalf of her mother. One man had just been diagnosed with amyloidosis 10 days ago and was headed to Mayo Clinic in Scottsdale, AZ for an evaluation the next week. I'm not sure if I have mentioned her before, but there was a woman with familial amyloidosis who was initially misdiagnosed with AL (primary) amyloidosis and started on chemotherapy. She did develop some neuropathy as a result.

The most interesting story was from a man who was only 37 years old. He had been very active including being a soccer referee and felt fine, but in March of 2010 he found himself getting tired more and more easily such that three months later he could not walk up his driveway without stopping. He was eventually diagnosed with amyloidosis in August and was evaluated at Mayo Clinic. He was having a good response to chemotherapy at the time of this meeting. His rapid decline in energy is actually quite common in cases with cardiac involvement. One of the articles I read said cardiac amyloidosis is more readily noticeable in people who are very active and get a lot of aerobic exercise. I'm guessing that's because they push themselves more and will quickly notice the decline, whereas a sedentary person may not notice how much less energy they have until it starts impacting their sedentary lifestyle.

June, 2011

We didn't attend this meeting because we were in Jamaica, mon. 

November 12, 2011

Mom did not attend this meeting because she and Ed had been in Sealy, TX the night before for an 80th birthday party for a friend of theirs who sometimes travels with them. (The birthday boy allegedly did The Chicken Dance.) There were two medical guests at this meeting, Dr. G (cardiologist from Mayo Rochester) and Dr. B from the Baylor stem cell transplant group. Including the two doctors and Muriel Finkel, there were 38 people at this meeting. There were 16 patients there, including me. The soccer ref from the March meeting was there, as was the woman with familial who had been mistakenly diagnosed and started on chemotherapy. She recently had a pacemaker installed and was feeling much better. Considering her age (88), she seemed to be doing great.

I was very interested in hearing the cardiologist from Mayo discuss how amyloidosis affects the heart. Although it is rare to have significant cardiac involvement with fibrinogen amyloidosis, it has been documented. (See the article "Cardiac Amyloidosis with the E526V Mutation of the Fibrinogen A alpha-Chain" on the Resources page.) I had already learned a little about cardiac amyloidosis from the familial meeting in October, so I knew that amyloidosis causes the walls of the heart to get thicker and lose some elasticity. The heart muscle itself is still strong, which is why the ejection fraction (a measure of what percentage of the blood in the heart gets pumped out with each beat) may be normal in a heart affected by amyloidosis. I had heard or read that some biomarkers may be a good indication of cardiac involvement, but when Dr. G talked about those (BNP and triponin) I didn't get a clear indication that that was the case because, for instance, BNP can be affected by so many other things and it can vary considerably from week to week. I asked her about those biomarkers specifically after the meeting, and she confirmed that there really is no obvious measurement that can be done to determine the extent of cardiac involvement. It takes more of an overall assessment, including things like an echocardiogram, electrocardiogram, stress test, etc. So it looks like keeping a check on the heart will not be as easy as keeping a check on the kidneys, which is simply an annual check for proteinuria or elevated creatinine levels. That's something to keep in mind going forward, for Mom more than for me at this point since she already has kidney involvement.

Sunday, November 25, 2012

October 2011 - Familial Amyloidosis Meeting in Chicago

Back in October of 2009 before Mom or I had heard of amyloidosis, a national meeting for patients with familial amyloidosis was held in the Chicago area. This two-day meeting was sponsored by the Amyloidosis Support Groups and was held at Muriel Finkel's business, Finkel Supply. Several of the leading experts in familial amyloidosis from around the US (primarily Mayo Clinic and Boston University) were there and gave presentations, had Q & A sessions, and made themselves available for patients and caregivers to talk to. There were almost 100 attendees (patients and caregivers), and it was apparently such a successful meeting that they decided to have them every two years. Mom and I were very excited to attend the next meeting after we found out about it, so we planned our trip back when the dates were announced early in 2011, and off we went in October.

The 2011 meeting took place on Saturday and Sunday, October 29 and 30, also at Finkel Supply in the Chicago area, with an informal dinner for everyone at the hotel on Friday night. Mom and I traveled on Thursday, and then Friday morning we rode a train into downtown Chicago and took a hop on - hop off bus tour of Chicago. (Bus tours are a great way to see and learn about a new city, especially if you have a good tour guide. If you get a guide who isn't all that good, just hop off the bus [Gus] and wait for the next one to arrive at that stop.) We ended our tour with a visit to the
observation deck on the 103rd floor of the Willis Tower (formerly the Sears Tower), where we got to step out on a cantilevered ledge with a glass floor, enabling us to look straight down 1353 feet to the street below.

Skydeck Chicago
David standing 1353 feet above Chicago

We got back to the hotel in time for the dinner, and we sat at a table with some other people and introduced ourselves. I think there were four people from the same family (three men and the wife of one of them), and I believe all three of the men had at least one organ transplant. Their family had one of the ATTR variants. We told our story of how Mom was the first one diagnosed in our family, and then one of them told his story of how it took a long time to get diagnosed, and he was the first one diagnosed in his family and had never heard of it. He said when he called his mother and told her about his diagnosis of familial amyloidosis, she said something like, "Oh yeah, I got a letter from a cousin of mine about that awhile back. Since I didn't have any symptoms I assumed I didn't inherit it so I didn't think anything more about it." I have no idea how far my jaw dropped or how big my eyes got when I heard that, but it had to be a lot, given how passionate I am about informing all possibly affected family members about this hereditary disease. That's the exact scenario I'm trying to prevent, and here's a family that it happened to, simply due to a lack of communication. (Calm down David, calm down . . .)

Then another couple joined our table. It was a married couple, and he had one of the ATTR variants. This was the first glimpse Mom and I got of the effects of polyneuropathy, which begins with a numbness or tingling sensation in the extremities. I'd guess it's similar to when your hand or foot falls asleep if you cut off the circulation for awhile, except the numbness doesn't go away. Eventually the neuropathy expands to other body systems (such as the GI tract), and the patient will usually start losing feeling and/or strength in their limbs. This man's neuropathy had significantly affected his hand and arm strength, such that his wife had to cut up his food for him. I believe he also mentioned he has difficulty dressing himself. We couldn't help but feel sorry for him, and we had no idea how much more of that we would see over the next two days. At some point we also got to speak to Dr. Skinner from Boston for a bit. It was good to see her again.

Then the highlight of our evening occurred when we met Cathy Tidwell and her husband Lon. It was great meeting her after swapping emails off and on for over a year, and following her
blog as well. She seemed to be doing great, both physically and mentally. After catching each other up on our latest medical situations, we called it a night so we could be rested for the first full meeting day on Saturday.

I won't get into the various presentations that were given during the meeting. Most of them are available at the Amyloidosis Support Group web site: I think there were over 175 attendees at this meeting, and by far most of the patients had one of the ATTR variants. In fact, Cathy T., Mom and I were the only people there with fibrinogen amyloidosis as far as we know. So that was just another reinforcement of how rare our disease is, especially in the US. (It is much more common in the UK.) Some of my random thoughts on the meeting, in no particular order, are:

  • I mentioned the polyneuropathy we saw in one person at dinner Friday night. We saw many more people with various levels of polyneuropathy over the next two days, since that is one of the main symptoms with ATTR. There was one presentation dedicated to it, followed by a live demonstration by that doctor of how he goes about assessing polyneuropathy with a patient. Seeing all that honestly made us feel a little lucky that fibrinogen amyloidosis does not cause polyneuropathy, given its effects on a person's quality of life.
  • Although many of the presentations were geared specifically toward the ATTR variants, those were still interesting to listen to, especially when the various phases of clinical trials were being discussed and how that process works. It is a little disheartening to realize that the chances of any clinical trials directed specifically toward fibrinogen amyloidosis are pretty slim, given the number of potential patients. Hopefully there will be something that works on all types of amyloids.
  • A lot of the attendees had organ transplants, and it was not unusual to meet someone with two organ transplants, like we did at dinner Friday night. I think there were at least two people at the meeting with three transplants (heart, liver, kidney).
  • Speaking of transplants, the age of the transplant recipient was mentioned frequently. Since most types of familial amyloidosis get diagnosed later in life, people naturally want to know if there is an age limit beyond which a person cannot get an organ transplant. The doctors stressed repeatedly that a person's physical condition is much more important than their chronological age when considering suitability for a transplant. So there is no absolute age limit for transplant recipients. (Although I think it was mentioned that Medicare may put an age limit on heart transplants.) Since Mom was 70 at the time of this meeting, that was good to hear.
  • All of the doctors who presented at the meeting are really good speakers, very entertaining, informative, and funny at times. They know their stuff and they can explain it in an understandable way to their patients. They aren't afraid to admit when they don't know something or ask another doctor who does. It's a relatively small community of doctors who specialize in amyloidosis (concentrated at Boston University and Mayo Clinic), and they appear to work together very well and aren't territorial at all.

All in all it was an excellent meeting and we can't wait to attend the next familial meeting, which has already been scheduled for October 2013. The most uplifting part was seeing how well Cathy was doing after her liver transplant, and we came away from the meeting with the realization that we really needed to pursue a liver only transplant for Mom, since that's what Cathy had and she was on the verge of going on dialysis at the time. So we have a new mission once we get back home.

Speaking of getting back home, while waiting for our bags at DFW Airport, Mom noticed one of those plastic tubs on the conveyor that had what looked like the remains of a suitcase and its contents that had been pulled out of a shredder. She asked me if that was my bag, and I looked a little closer and recognized one of the shirts that was visible. Yep, that's my bag.

Shredded bag
David's suitcase at baggage claim

I couldn't really believe what I was seeing. After showing it to the baggage claim agent and getting a replacement bag on the way, I started going through the contents, simultaneously assessing the damage while trying to figure out how the heck this happened. Some of my clothes actually had burn marks, and one or two shirts were even stuck to melted parts of the nylon bag. One arm of the retractable metal handle that lifts up had a huge bend in it, and the other one was only slightly bent. My best guess on how it happened was that my bag fell off the cart as it was being driven from the plane to the terminal, and it got wedged under one of the wheels. It must have been pushed along the concrete tarmac by this wheel until either: A) The wheel finally rolled over the bag, getting the attention of the driver as the baggage cart jostled, or B) Somebody noticed the sparks or smoke or flames coming from my bag, and got the driver to stop. Amazingly enough, none of the contents were lost. It was all there, some of it even undamaged. I did file a claim and got promptly reimbursed. I included some pictures when I submitted the claim, mainly for the enjoyment of the people who handle claims. I'm sure they were glad to settle this one for about $200.

Friday, November 23, 2012

September 13, 2011 - You are not alone, Part 3

As a member of the Yahoo support group for familial amyloidosis (, I get an email whenever a new member joins the group, containing some or all of what they submitted to the moderators in order to join. On September 13, 2011, I received this email about a new member:

I previously joined the AL Amy support group but have now been diagnosed with hereditary fibrinogen a alpha amyloidosis.

Hey, another person with the fibrinogen mutation. Up until this point the only other person I knew with it was Cathy Tidwell, so this person was definitely someone I'd like to make contact with. So I sent an email to the support group addressed to the new member with fibrinogen amyloidosis, basically to introduce myself and offer to share any information I had already gathered. That person wrote back and I'll share just a bit of that person's information here. She's a female we'll refer to as NL, and she lives in South Africa. She's a little younger than I am, and at this point she has proteinuria. So it sounds like her amyloidosis was diagnosed relatively early. She suspects she inherited it from her father, an Englishman who died of kidney failure.

NL and I swapped a few emails over the next several days, talking about transplants, genetic testing, dialysis, etc. I ended up sending her eight articles on fibrinogen amyloidosis, plus the letter I sent to Mom's cousins informing them about her diagnosis and what they should do about it. That exercise of finding and sending those articles is what really got me thinking about how convenient it would be to have all that stuff in one place. And look, just a little over a year later, it's a reality. Now I can simply direct any new fibrinogen amyloidosis patients to my Resources page.

So it's September of 2011, more than a year after Mom's diagnosis, and I've been in contact with just two other people with fibrinogen amyloidosis. Next up is the bi-annual meeting of familial amyloidosis patients and caregivers in Chicago at the end of October. Will we meet any other fibrinogen patients there?

Thursday, November 22, 2012

July 2011 - From Russia With Love

The runner-up title for this blog post was: "Stuck in the US, Stuck in the US, Stuck in the USSR!"

I think I've mentioned before that Mom and her friend Ed do a lot of traveling, both domestic and international. One of their trips in the summer of 2011 was a river cruise somewhere in western Russia. If I had taken some notes of what was going on while they were in Russia I would probably need several blog posts. So I'll do my best to condense it down to the more interesting details I can remember.

I do know they were at the Moscow airport on June 24. I assume they got started on the river cruise a day or two after that, but then very early into the cruise (first or second day, maybe?) Ed went into full body convulsions in their cabin. (Ed's recent medical history could fill another blog or two, but the fact that he was traveling with a copy of his most recent brain CAT scans on a CD should tell you something.) Fortunately Mom was with him when these convulsions started and she immediately went into the hall and yelled for help. Also fortunate was the fact that there happened to be a staff meeting in progress nearby, and the ship's doctor was right there. Even more fortunately they happened to be at a port when this happened, so an ambulance was called to take Ed to the nearest hospital. (They were traveling with some other people who gathered up their belongings they left on the ship so they could be reunited with their stuff at some point.)

Based on Mom's description of it, to call this first location a hospital would be a gross exaggeration. It sounds like it was more of a small-town clinic, and it took the ambulance a very long time to get there over some very bumpy roads. I don't think they stayed there more than one night before Ed was transferred to what could perhaps be called a real hospital in a larger town, but it was a "hospital" only by Russian standards. It was either this place or the first one (maybe both) that had a resident cat that rode the elevator to travel from floor to floor. Mom also discovered that the night duty nurses have a room where they go to sleep overnight, and they get really annoyed when you wake them up just because you think someone needs medical attention.

After a day or two at this "hospital," Ed was transferred to a Euromed Clinic in St. Petersburg, which is intended for international travelers who need medical care while in Europe. The Euromed Clinic was better than the second place, and they were treated well and assigned a translator, but Mom had already gotten her fill of Russia's medical system and didn't want any part of it. That was really unfortunate because she developed a urinary tract infection while the logistics were being worked out on getting Ed back home, now that he was stable enough to travel. Ed's travel insurance provider insisted that he travel back with a medical professional such as a nurse, and they have people lined up to do just that. But the first person that was selected couldn't travel for some reason, so they ended up getting someone else who could travel as far as Finland. That meant Mom and Ed had to travel from St. Petersburg to Helsinki, Finland with a doctor, and then Ed was transferred to the care of the nurse who had traveled from Canada, I think.

So their stay in Russia was extended by about a week, and Mom was stuck there with a urinary tract infection (UTI) which she did not seek medical attention for due to what she had seen of the Russian health care system, combined with the fact that any medications needed to be approved by her nephrologist due to the amyloidosis in her kidneys. Mom did take an antibiotic her nephrologist had prescribed to have on hand, in case she got a UTI while traveling.

So the barely-walking wounded couple eventually made it all the way back to Austin where Ed lives. Mom wasn't doing well at all, so the day after they got back she went to some clinic like a PrimaCare, and they told her to go to the emergency room at the hospital. They admitted her at Seton Medical Center with a severe kidney infection, where she stayed for I think four days until they got that under control. Cathy and I went down to see her on her birthday, and the day before we went the hospital had implemented quarantine rules for Mom's room, meaning everyone who entered her room had to suit up in these disposable gowns, gloves and surgical masks. I was looking forward to suiting up and getting pictures of all that, but unfortunately they stopped doing the quarantine thing before we got there. But we still had a lovely birthday celebration with the smattering of birthday decorations from Party City we brought with us. "Happy Birthday! You have a kidney infection!"

As you can imagine, a kidney infection in someone with reduced kidney function is not a good thing. The nurses told her they were really concerned about her when she first arrived. I think her creatinine had been hovering somewhere between 2 and 3, but her first labs at the hospital showed it to be somewhere between 4 and 5, if I remember correctly. It did steadily improve while she was there, and it was close to her pre-Russia level by the time she was released. We'll always wonder what impact this episode had on the rate of decline of her kidney function.

[Minor edits January 12, 2013]

Tuesday, November 20, 2012

Resources Page Added

As I mentioned in the previous post (also in the very first post, come to think of it), I want to have a single place to point people to for links to all the important internet resources I have found related to fibrinogen amyloidosis. I'm still in the process of gathering up all the articles I have, making a list of them, figuring out how to find them on the internet again, etc. But if I wait for that project to be completed and perfect I might never put anything out there. So I have now published the Fibrinogen Amyloidosis Resources page. It can be accessed on the right side of the blog, under the "Pages" heading. Here is the URL:

I know there are at least four articles I have not listed yet (including a relatively new one), but they'll be added soon. I'm finding as I read over these articles again there are usually other articles they refer to that are worth looking up, leading to other articles that are worth looking up, etc. It has also been interesting doing a little research into the history of this mutation and where in the world it is most frequently diagnosed.

As with the other page, email and RSS subscribers will not be notified of updates, but I'll mention anything significant in a blog post. I'm also working on a central location to make all of these articles available for download (probably using Dropbox, which is simply awesome), so that will be announced at some point in the near future.

We now return to our regularly scheduled programming. In the next episode of As The Amyloid Turns we have a bit of international drama: From Russia With Love.

Sunday, November 18, 2012

Patient Timelines Page Added

More than once I have thought of how handy it would be to have one place to look for a concise timeline of Mom's history with fibrinogen amyloidosis, instead of having to read through a zillion blog posts, go through her copies of lab reports and whatever other medical records she has, or rely on my less than perfect memory. Blog posts (entertaining as they are) and medical records (dry and boring as they are) both tend to have a lot of extra stuff and sometimes, to borrow a phrase from Sgt. Joe Friday, "all we want are the facts, ma'am."

So to that end I have added a new page to the blog, called "Fibrinogen Amyloidosis Patient Timelines." You can get to it from the right side of any page on the blog, under the "Pages" heading. The direct link is:

There is still plenty I want to add to Mom's timeline, such as when we think the first symptoms appeared, and her creatinine, GFR, and protein numbers that we have records of. So that will be added over time. Email and RSS subscribers will thankfully not be automatically notified of updates to the Timelines page, but I'll mention any significant updates in future blog posts.

Here is the entire Timelines page so far, for your perusal and feedback:

This page will be used to document the major milestones of each person's journey with fibrinogen amyloidosis. In addition to being a handy place to record this information and update it over time, hopefully this page can be of benefit to anyone who comes across this page so they can see some examples of the progression of this disease.

I'm not limiting this page to members of my family, so if you have the fibrinogen mutation and want some of your information included here, please send me an email (toe at juno dot com). I'll identify you however you wish, whether that's full name, first name only, initials, a pseudonym, a number, or whatever.

Improvement suggestions are welcome.

(This page initially created November 17, 2012)

Linda J. (DOB July 1941)

(Added to page November 17, 2012)

2008 - 2009: Seeing a nephrologist to determine cause of proteinuria and elevated creatinine level.

2010, January: Kidney biopsy shows presence of amyloidosis, but unable to positively determine type.

2010, March: Bone marrow biopsy shows no sign of amyloidosis.

2010, June: Evaluated at Boston University Amyloidosis Center. AL and AA amyloidosis ruled out. Familial suspected, but not ATTR.

2010, July: Genetic testing shows Fibrinogen E526V mutation.

(Last updated November 17, 2012. Waiting for blog to catch up before adding more.)

David J. (DOB July 1962) (Son of Linda J.)

(Added to page November 17, 2012)

2010, October: No proteinuria. Creatinine level normal. 

2011, February: Genetic testing shows Fibrinogen E526V mutation.
(Last updated November 17, 2012. Waiting for blog to catch up before adding more.)

Next up: Sources of information on fibrinogen amyloidosis

Friday, November 16, 2012

February 9, 2011 - My genetic testing results, Part 2

As you may recall from way back two blog posts ago, on December 20, 2010 my doctor's office sent some of my blood to Boston for genetic testing to determine if I had inherited the genetic mutation for fibrinogen amyloidosis from my mother. Less than two months later, on February 9, 2011 Dr. Skinner called me with the results. I did test positive for the fibrinogen Val526 mutation.

Before proceeding, please watch the following five second YouTube clip, because 37 million views isn't enough:

So now we know. I wasn't devastated by any means, especially since I've known since Mom's diagnosis that I had a 50% chance of having it. I figure if I'm going to have the mutation, now I have plenty of time to think about organ transplants and keep informed of the latest developments. I know it's a late onset disease, and we suspect Mom's symptoms first started appearing around the age of 65. (I was 48 at the time of my diagnosis.) I also knew from the articles I had read that the penetrance is well below 100%, which means having the mutation does not guarantee a person will develop symptoms. So to me there was no sense in worrying about something that might not ever happen. What does make sense is to have my creatinine and proteinuria checked annually, and to have a plan for what to do should either one of those start heading the wrong direction.

(Incidentally, I do not have any biological children, so the prospect of having passed along the mutation was not a concern for me. I can understand how possibly passing on the mutation adds another dimension of concern for people in that situation.)

After informing my wife, my mother and my two sisters that I tested positive, I posted the following as my Facebook status:
"Those of you who have known me for awhile may already suspect this, but genetic testing has recently confirmed that I am, indeed, a mutant."

Then on February 27 I sent this email to the familial support group, with the subject line "From Caregiver to Patient":
In the summer of 2010 my mother (Linda from Dallas) was diagnosed with fibrinogen amyloidosis after an evaluation at Boston, and I am the first additional family member to be tested for the mutation. I found out this month that I did test positive, so I now become not only a caregiver but also a potential patient. As my cousin put it, I won the family reverse-lottery.

Fibrinogen amyloidosis affects the kidneys almost exclusively, and at my last physical exam I showed no signs of proteinuria or elevated creatinine levels. Dr. Skinner said as long as I have those items checked annually there isn't much else for me to do at this point. I will likely have a baseline evaluation done at Boston if and when my mother goes back there for another evaluation. (I'm 48, and I suspect her symptoms first appeared around the age of 65.) Some people
with the mutation never develop any symptoms, so maybe I'll be lucky in that regard.

Since there are no drug treatments available for fibrinogen amyloidosis, and a liver transplant is the only "cure" at this point, other family members have been less interested in getting tested for the mutation. (At least they have informed their primary care physicians of the possibility.) It's obvious where I stand on the question of genetic testing, but that may be due to my having gone through the diagnosis process with my mother and participating in support groups in Dallas and online for almost a year now.

I assume most people on this list can think of many good reasons for someone who is asymptomatic to get tested if they have a 50% chance of having inherited a genetic mutation leading to amyloidosis, but are there any good reasons not to get tested? The Genetic Information Nondiscrimination Act (GINA) prohibits U.S. insurance companies and employers from discriminating on the basis of information derived from genetic tests, so I can't think of anything bad that can come from knowing, regardless of the results.

So that's where we were as of early 2011. Mom's kidneys are slowly getting worse but she has no outward symptoms and is traveling all over the world. I have the mutation but no symptoms. Things slowed down a little at that point (but not for long), so now is a good time to start adding some more background info and resources to the blog. Stay tuned.

Thursday, November 15, 2012

October 2010 - CPHPC update

While we wait for my genetic testing results (again), I thought I'd go off on a slight tangent, back up just a bit, and mention something called CPHPC. What is CPHPC, you ask? Well, CPHPC is R-1-[6-[R-2-Carboxy-Pyrrolidin-1-yl]-6-oxo-Hexanoyl] Pyrrolidine-2-Carboxylic acid. I don't know why they felt a need to shorten all that to "CPHPC," but I guess I'll go along with it.

Ok, so what does CPHPC have to do with amyloidosis? Here is the grossly oversimplified answer to that question: CPHPC may enable the human body to eliminate amyloid deposits. Yes, you read that right. CPHPC may enable the human body to eliminate amyloid deposits. But before you jump up and down declaring CPHPC to be the wonder drug that cures amyloidosis, be aware that this drug has a loooooooong history, and as of the end of 2010 had only been used on laboratory mice, not humans. [Edit: There was a study on the effects of CPHPC in 31 human patients between 2001 and 2006. Here is the link to that article:] It was developed in the UK, and I remember hearing one of the US doctors say that the amyloidosis medical community has been hearing about CPHPC for so long that they're sort of tired of hearing about it, and they'd rather not hear about it again unless there are some results from use in humans.

I'm bringing up CPHPC now because in November of 2010 someone on the amyloidosis Listserv (not the Yahoo support group) mentioned an October 2010 article about CPHPC that appeared in Financial Times. It gives a good, concise summary of the history of CPHPC. Here's the link to the article:

And here is the text of the article. Note the link to Alzheimer's, and support from a major pharmaceutical company:
After 35 years spent studying the protein amyloid, Mark Pepys, professor of medicine at University College London, is finding persistence pays off.

For 35 years, Pepys has been studying amyloid, an insoluble protein that can cause serious disease when excessive amounts build up in the body.
And now, a paper published last week in the top journal Nature showed that a drug that he designed in the 1990s, called CPHPC, works well in combination with a newly designed antibody to clear amyloid deposits in laboratory mice.

A trial in patients will follow soon. If that succeeds too, the immediate clinical benefits will go to sufferers of an incurable disease called systemic amyloidosis, which causes organ failure in tens of thousands of people worldwide.

Amyloidosis, which affects about one person in 1,000, results from the build-up of abnormal fibres in the body. In the case of Alzheimer’s, amyloid deposits contribute to the destruction of the brain.

The original breakthrough came in the 1980s when Pepys realised that a normal blood protein called serum amyloid P component or SAP was the key to tackling amyloidosis.

SAP is always present in amyloid deposits as well as in the blood, and it contributes to the formation and persistence of amyloid.

In collaboration with Roche, the Swiss drug company, he developed CPHPC, a drug that targets SAP and removes it from the blood. This treatment stopped further accumulation of amyloid but did not lead to clearance of existing deposits, perhaps because it did not remove all the SAP from the amyloid.

Roche then pulled out of the collaboration but Pepys wasn’t discouraged. Nor was the Medical Research Council, which has funded his work from the start.

He had the idea of combining CPHPC with an antibody to target the residual SAP – and he persuaded another pharmaceutical giant, GlaxoSmithKline, to work on its development.

“Our findings open up promising prospects for successful intervention in patients,” said Professor Pepys.

An obvious question to ask, given the title of this blog, is whether or not CPHPC is expected to work on reducing all types of amyloid deposits, or just those found in cases of AL (primary) amyloidosis. My understanding from one of the doctors at one of the support group meetings is that CPHPC is expected to work on all types. He gave a technical explanation on why that was the case, and I believe it has something to do with the fact that the serum amyloid P (SAP) is always present and binds to the amyloid deposits. Since the SAP is being targeted and cleared out of the body, it takes along whatever it is attached to. That's totally from memory, so I could be all wrong.

There are a lot of articles about CPHPC out there, so if you want to find out more just search for these terms: CPHPC, Pepys, SAP, amyloidosis. You'll likely find some articles published later than 2010 to be interesting. CPHPC might even get mentioned again in this blog.  ;-)

Ok, where were we? Oh yeah, waiting on my genetic testing results from Boston.

[Edited December 24, 2012]

Friday, November 9, 2012

December 2010 - My genetic testing results

Two posts ago I talked about having my doctor's office send a blood sample to Athena Diagnostics for genetic testing. I did get the results before Christmas of 2010, and here's what the report said:

This individual does not possess a DNA sequence alteration in the coding region of the Transthyretin (TTR) gene and therefore is unlikely to be affected with or predisposed to developing the Transthyretin-associated amyloidosis symptoms.

At a glance you might think that would be a big relief, since I tested negative. But if you're familiar with familial amyloidosis you know that I tested negative for the ATTR mutation of familial amyloidosis, not the fibrinogen mutation. ATTR is by far the most common familial amyloidosis mutation (in the US, anyway), and that's all Athena Diagnostics tests for. I actually figured this was going to happen when I looked at their web site after my doctor's office sent in the blood, because in the description of the test they specifically mention TTR (transthyretin) and peripheral neuropathy.

After emailing my results to Dr. Skinner in Boston to confirm that I had not been tested for the fibrinogen mutation, I called my doctor's office and gave them the good news. It took a little explaining and the conversation went something like this:

Me: They didn't do the right test at Athena Diagnostics.

Nurse: But they said you tested negative for familial amyloidosis. That's what your mother has, right?

Me: There are over 100 mutations of familial amyloidosis. They didn't test me for the one my mom has. If they had tested her for ATTR, she would have tested negative, too.

Nurse: Oh.

Eventually someone at the doctor's office realized they needed to simply figure out how to send the blood to Boston. (And there was much rejoicing.) I was still assigned an action item, which was to provide them with a small shipping box from the post office. Given all the other running around I had already done to try to make this happen, I was more than happy to do that, since both my doctor's office and the post office are within walking distance of our house.

So on December 20, 2010 I gave my doctor's office some more blood and a box to ship it in. They sent it to Boston for genetic testing. I was much more confident this time around that I would get some useful results. Stay tuned . . .

Thursday, November 8, 2012

November 13, 2010 - Meeting Muriel

On November 13, 2010 I attended another amyloidosis support group meeting. Mom was at a UT football game in Austin so she did not attend. I think people were starting to wonder if she really existed since she had never been to a meeting.

There were 22 people in attendance including the medical guest, Dr. Z from Karmanos in Detroit. There were 9 patients at this meeting, including two that were in the process of being diagnosed and one person with familial amyloidosis who was initially misdiagnosed and started on a regimen of chemotherapy.

What stands out the most for me regarding this meeting was finally getting to meet Muriel Finkel, the President of the Amyloidosis Support Groups ( She is very active in the online support groups, and there is no doubt as to who is in charge when Muriel attends a local meeting. She is extremely passionate about people having the right information and getting the medical care they need, having cared for an uncle who lost his life to amyloidosis years ago. What began with a single support group meeting in Dallas in 2004 has now expanded to at least 15 support groups across the US that meet regularly. Muriel does a fantastic job keeping it all together and running smoothly, while simultaneously operating her own business, Finkel Supply, in the Chicago area. If you have any type of amyloidosis and can make it to a support group meeting, I highly recommend it.

Now, about my genetic testing . . . 

Tuesday, November 6, 2012

October 25, 2010 - Let's get a physical, a physical

For me there was never any doubt that I wanted to get genetic testing to see if I had the mutation for fibrinogen amyloidosis. (I'm an engineer. I like data.). Since I knew I needed to be on the lookout for proteinuria and elevated creatinine levels, skipping my annual physical was not really an option for me in 2010.

On October 25 I had my annual physical with Dr. S. I brought a copy of the letter that Mom received from Boston with the results of her genetic testing and told him what I've been telling everyone else to tell their doctor regarding symptoms to be on the lookout for. He had the results of my labs that were done the week before and he said everything looked fine. Good news there, but not really surprising since this is a late onset disease, and we think Mom's symptoms first appeared when she was about 65.

Dr. S mentioned genetic testing for me before I even brought it up. I had a copy of the form Boston needed for submitting blood samples for genetic testing. I don't remember if it was Dr. S or one of the nurses that asked if Boston provided a kit of some sort for sending in the vials of blood. As far as I knew they did not. So I left that appointment with the action item of finding a kit of some sort for shipping three vials of blood to Boston.

I don't recall the exact sequence of events after that, but I know I eventually became very frustrated at trying to find a kit for my doctor's office to send blood. I remember doing the following things, roughly in this order:

  • I called Boston to ask if they had any kits, and if not, what they recommended. They do not provide kits, and basically said to wrap up the vials individually in a suitable packing material to prevent breakage.
  • I called Dr. B's office in Indianapolis. He does genetic testing for familial amyloidosis, having had a hand in discovering about half of the genetic mutations himself. Supposedly he does genetic testing for free. I asked his administrator if I could get a kit from them, and if not, what would they recommend. They don't send kits unless someone is sending blood to them. Again, she said to just wrap up the vials so they don't break.
  • I went to the lab where we go to get blood drawn before our physicals. I asked if they could either A) give me a kit, or B) draw three vials of blood and ship it to Boston for me. They said something about only being able to ship it to a place they already have an agreement with. Of course they didn't have any agreement with the Boston University Amyloidosis Center, so strike three. No point in having them draw the blood if they can't ship it for me, unless, of course, they'd give the vials to me and let me ship it myself . . .
  • I went to the closest FedEx office and asked if there were any special precautions required to ship human blood, or if it was even allowed to be shipped by Joe Average Consumer. Nope, only medical facilities can ship blood. No surprise there, really.
  • I looked online for kits for shipping vials of blood. I think I found something somewhere, but the price for a single kit seemed a little steep.

Yes, I was thinking it was quite ridiculous that the patient would need to be involved to this extent. I had thought dealing with my doctor's office would go something like this: "I may have a rare hereditary disease. I'd like to get tested for it. Here's the address of a place that will do the testing. Please send them some of my blood. Thanks. How much do I owe you?" But, nooooooo . . .

Anyway, at some point I let my doctor's office know that I wasn't having any luck coming up with a kit. They had apparently been looking for some place to do the testing besides Boston, and they had found a lab called Athena Diagnostics that does genetic testing for all sorts of hereditary conditions. So in November I had some blood drawn and sent to Athena Diagnostics. Maybe I'll get the results by Christmas . . .

Monday, November 5, 2012

October 2010 - Applying for Transplant

After Mom's visit to Boston in June of 2010, I continued going to her nephrologist appointments when I could. The nephrologist (Dr. V) was seeing Mom every three months to keep tabs on her kidney function and her anemia. Now that we knew exactly what Mom had, we started discussing the possibility of getting a transplant (liver, kidney or both). Dr. V talked to us a little about the pros and cons of organ transplants, and rather than make any immediate decisions she recommended that Mom submit a transplant application and see what they say. ("They" being the transplant committee.)

So Mom completed the 13 page transplant application in late October and submitted it to Baylor. We heard back within a month or two that she was denied because her kidney function was not bad enough at that point to justify an organ transplant. So in a way that can be considered good news, being told you haven't reached the point yet where you need a transplant. We'll revisit this situation at a later date, but for now we'll leave it at that.

As the end of 2010 approaches, we have gone from being introduced to the word "amyloidosis" for the first time in January, finding out what Mom really has in July, learning there are no treatments for it other than organ transplants, and being told she doesn't need an organ transplant yet. Before we finish 2010, however, we need to talk a little about one of my favorite subjects: Me.

Sunday, November 4, 2012

August/September 2010 - Notifying the Cousins

After notifying the close relatives about Mom's diagnosis of fibrinogen amyloidosis, I made it my mission to get the word out to her more distant relatives. That letter was a bit of a challenge to write, since I had to not only be concise in defining "amyloidosis," "familial amyloidosis," and "fibrinogen amyloidosis," I also had to introduce myself and explain where Mom and I fit in the family tree. Plus, I wanted to give the family members some practical steps to take, so they wouldn't be left in limbo wondering what to do after finding out they may have a rare hereditary disease. Eventually I got the letter to the point where I was happy with it. Without further ado, here's the letter that was sent to various cousins in August and September of 2010, followed by some additional comments:


All Amyloids in the Family

This note is to inform you that a rare hereditary disease has been diagnosed in one of the grandchildren of Arrie and Selma Mordecai. It is unknown at this time if the disease, which is a slowly progressing disease that impacts the kidneys, was inherited through either Arrie or Selma, or through the other set of grandparents. The rest of this note will explain who has it, what it is, how it is treated, how it is inherited, and what you need to do about it at this point.

Who was diagnosed?

My name is David Jennings. My mother is Linda Sue Jennings. Her father was Marshall Mordecai, the oldest child of Arrie and Selma Mordecai. My mother Linda was diagnosed in July of 2010 at the age of 69 with a disease called fibrinogen amyloidosis. Right now she has reduced kidney function, but she feels fine and has no symptoms related to her kidneys that significantly affect her daily activities.

What is amyloidosis?

Amyloidosis is a family of diseases in which the body incorrectly manufactures certain proteins, called amyloids, which the body is then unable to process. These amyloids end up accumulating in one or more organs, eventually causing damage. About 3000 people per year are diagnosed with amyloidosis in the US.

Different organs can be impacted depending on the specific type of amyloidosis a person has. There are four main types of amyloidosis, and only about 10% of amyloidosis cases are a hereditary type, which is called familial amyloidosis.

There are over 100 specific gene mutations that have been discovered to cause familial (hereditary) amyloidosis. Linda has the one caused by a fibrinogen mutation, so it is called fibrinogen amyloidosis. To help keep the terminology straight: Fibrinogen amyloidosis is a specific form of familial amyloidosis, and familial amyloidosis is one of the four main types of amyloidosis.

Here is what I think I know about fibrinogen amyloidosis. Keep in mind that I am not a doctor:

- The amyloids (abnormal proteins) are produced in the liver.

- The kidneys are usually the only affected organ, with no significant symptoms until after middle age.

- Some people with the gene mutation never develop significant kidney problems at all, even into their senior years. (Linda’s parents lived to the ages of 76 and 85, with no known history of kidney problems.)

- This type of amyloidosis typically has a much slower progression rate than the more common types of amyloidosis.

What is the treatment for fibrinogen amyloidosis?

As of 2010 there are no medicines developed to treat this particular type of amyloidosis. Treatment options include:

- Do nothing, which means the kidneys will slowly get worse (lots of factors involved there), eventually leading to a need for dialysis.

- Get a liver transplant, which stops production of the amyloids. The damage has already been done to the kidneys, but there is no further damage due to amyloids once the amyloid-producing liver is replaced.

- Get a kidney transplant, replacing one or both kidneys. This option typically has good results because it takes many years for the new kidney(s) to be affected by the amyloids still being produced by the original liver.

- Get a combination liver and kidney transplant.


Since Linda was only recently diagnosed, we have not begun the process to determine if she is a good candidate for a transplant. Even if she is a good candidate, there is much to consider before deciding whether or not to have a transplant for a situation that is not life-threatening right now.

How is fibrinogen amyloidosis inherited? What are the chances I inherited it?

The gene mutation that causes fibrinogen amyloidosis is passed from one parent to a child, and there is a 50% chance that a child will inherit this gene from a parent. The genders of the parent and the child are not a factor. The mutation cannot skip a generation, but the symptoms can. Genetic testing can determine if a person has the mutation.

What do I need to do about it?

We do not know at this time whether Linda inherited this gene from her mother or father, and until a family member tests positive on either side we will not know for certain. Linda’s mother (Eloise) was an only child, so we have to go up another generation to find more distant family members on that side who may have inherited it. This does not mean everyone needs to immediately have genetic testing done, but there are some things you need to tell your doctor. Here is what I recommend:

- Tell your doctor at your next regular visit there is a chance you have inherited fibrinogen amyloidosis. Do not be surprised if your doctor does not know what you are talking about, since many doctors have never seen a patient with amyloidosis, and fibrinogen amyloidosis was only discovered in 1993. Your doctor may have to do some research before being able to discuss it with you.

- Tell your doctor to be on the lookout for signs of kidney trouble, especially proteinuria (excessive protein in the urine) or elevated creatinine levels. Although those can be symptoms of many other conditions, either one of them would justify having the genetic testing done to determine if you have this hereditary form of amyloidosis.

Genetic testing for this condition requires analysis of blood samples at a genetic testing laboratory. Attached is a form for having blood samples sent to Boston University, which is where Linda was evaluated in June of 2010. The current cost of this test is $450. They do not file an insurance claim on behalf of the patient, but your doctor may be able to file a claim for reimbursement if the testing is covered by your health insurance. I am sure there are other labs around the country that can also do this testing, but I have not done any research on that.

If you do get tested, I would appreciate it very much if you would let me know the results, positive or negative. If anyone tests positive who is not a descendant of Marshall Mordecai, that will need to be communicated to everyone because it means it is certain that Arrie or Selma Mordecai carried this mutation and each one of their children had a 50% chance of inheriting it. I will not disclose any medical information you wish to keep private.

If you do test positive for this mutation, please contact me so I can give you my recommendations on the next steps to take in your medical care. Amyloidosis is a rare disease that many doctors will never see in their career, and fibrinogen amyloidosis is a rare type of this rare disease. Getting proper medical evaluation and treatment for this condition usually requires visiting a location that specializes in treating amyloidosis.

How do I find out more?

If you want to do some research on your own, here are a couple of links to start with:

Mayo Clinic article on amyloidosis:

eMedicine article on familial amyloidosis:

Be aware that most of the information available on amyloidosis on the internet deals with the primary version of the disease (also referred to as AL amyloidosis), so anything about chemotherapy or stem cell transplants does not apply. Much of the information I have found on familial and fibrinogen amyloidosis is geared toward medical professionals.

I know this is a lot to absorb, and since I have been learning about amyloidosis this entire year I will gladly discuss this further with anyone and answer any questions. My goal is for everyone who could have inherited this disease to be aware of it and inform their doctor. The genetic testing is secondary to that. But without genetic testing, this disease can take years to diagnose and is often misdiagnosed, leading to unnecessary loss of kidney function.

I can be contacted via email, phone, or regular mail. Here is my contact info:




David Jennings


If you find yourself in a similar situation and could use a letter like this to communicate to family members or your doctor, feel free to use any or all of it. Plagiarism is encouraged.

There isn't much I would change if I were to write this letter again today. I would, however, expand a little on genetic testing and include a link to, a web site that provides information about the Genetic Information Nondiscrimination Act (GINA). People naturally have questions about what can and cannot be done with an individual's genetic testing information, and I know there is some misinformation out there because I have heard it directly from one doctor and indirectly from another. Rather than give my interpretation when I hear those types of questions being asked, now I typically refer people to the site so they can read it and reach their own conclusions. (Note to our international readers: GINA applies only in the US. I am unfamiliar with the regulations in other countries.)

Next up: Transplant application

Friday, November 2, 2012

August 2010 - Spreading the word

After Mom got her diagnosis of fibrinogen amyloidosis, I started searching for and reading the medical journal articles I could find that dealt with it, and I also asked Dr. Skinner in Boston some more questions. I was curious about how rare fibrinogen amyloidosis really was. Dr. Skinner said that Boston sees about 200 new amyloidosis patients per year and has since 1980, and only about 10% of those (20 per year) have some form of familial amyloidosis, usually ATTR. She said they have only seen a total of 10 to 15 patients with fibrinogen amyloidosis since 1980. So for the Boston patient population, that averages out to one patient every two years with fibrinogen amyloidosis. If we assume the Boston patient population is representative of the overall US population (unlikely in terms of familial, but let's go with it), and if we use the figure of 3000 new amyloidosis patients per year in the US, then that works out to be 7.5 new fibrinogen amyloidosis patients per year. Given that wild guesstimate, and assuming a US population of 300 million, Mom went from being one out of 100,000 to one out of 40,000,000. Isn't she special?

Anyway, I first wanted to inform the family members with a 50% chance of having inherited the mutation what to tell their doctors to be on the lookout for, now that we had a better idea of what the earliest symptoms would be. Based on what Dr. Skinner had told us, here's what I sent to my two younger sisters and my two uncles on my mother's side about that:

- Tell your doctor at your next regular visit that you have a 50% chance of having familial amyloidosis due to a fibrinogen mutation. Do not be surprised if your doctor does not have a clue what you are talking about it. He or she may have to do some research before being able to tell you much about it.

- Tell your doctor to be on the lookout for signs of kidney trouble, especially proteinuria (excessive protein in the urine) or elevated creatinine levels. Either of those symptoms would warrant having the genetic testing done to determine if you have this hereditary form of amyloidosis. A positive test result for the fibrinogen mutation would warrant referral to a nephrologist (kidney doctor) for recommendations on taking care of the kidneys and discussions about liver and/or kidney transplants.


Having taken care of the immediate family, my next mission was to spread the word to the extended family. At this point we didn't know whether Mom inherited the mutation from her mother or father. Her mother died at the age of 85 due to heart issues, and her father died at the age of 76 after a spinal cord injury. Neither one of them had kidney issues as far as we know, so whichever one of them had the mutation apparently didn't develop significant symptoms. We know one of them did have the mutation, which means one of my mother's grandparents had the mutation, which means my mother's cousins are potentially at risk of having the mutation.

My mother's mother was an only child, so we would have to go up another generation and come back down to find descendants who may have the mutation, if it came from that line. My mother's father, on the other hand, came from a large family. He had eight siblings, and six of them have surviving children or grandchildren. As in many families that large, people move around the country and lose contact over time, but between Mom, her cousin Pat, and Mom's older brother we eventually determined we had a way to contact at least one person in each family.

So now I needed to write a letter explaining Mom's situation to people who have likely never heard of amyloidosis, and may or may not remember me even if they had ever met me in the past. Given its length, that letter will be in the next post.


Monthly Blog Status Update

At least until I catch up to real time, the first blog post each month will include a little blog status update at the end. This may only be of interest to me, so feel free to skip it. That's why it's at the end. (This material will not be on the final exam.)

Months behind as of October 2012: 33
Month behind as of November 2012: 27
Total posts: 18