Sunday, December 30, 2012

October 2 through 6, 2012 - Resuming PD training

This post covers the first week of October 2012.

October 2, 2012 (Tuesday): Mom resumed training for peritoneal dialysis today. (Previous training in July had to be stopped due to the dialysis fluid getting past her diaphragm and into her chest cavity.) She had some minor discomfort during the second exchange, but she shifted around in the chair and was able to get in a comfortable position.

October 3: During Mom's PD training today they realized they were not draining out as much fluid as they were putting in. Each bag of dialysis fluid is 2000 milliliters (about half a gallon), but they were only getting out about 1700 milliliters. They should actually drain out slightly more than 2000 milliliters due to the impurities that get absorbed into the fluid through the peritoneum. So they sent her to have another chest x-ray.

Mom received her first delivery of peritoneal dialysis supplies today. Since Mom was at the PD clinic, my wife Cathy met the delivery driver at Mom’s house. The drivers who deliver these supplies put them wherever you ask them to in your house, which is really good because each box of PD fluid contains five bags of fluid and weighs a total of 33 pounds. (That’s 15 kilograms for our readers outside of the US.) There is now a stack of at least 30 of these boxes about five feet tall (~1.5 meters) in her closet. In addition to the PD fluid she also received a heating pad, a scale, a blood pressure monitor, a thermometer, an IV pole and things like face masks, gloves, and syringes. Given the current issues with her PD training, however, I was wondering if she would ever get a chance to use all this stuff.

October 4: Mom met the nephrologist, Dr. S, at the PD clinic to go over the results of yesterday's chest x-ray. He is willing to keep trying to get her on PD if she's willing to keep fighting for it. She's going back to the PD clinic tomorrow (Friday) to try again and see what happens, and there are some more tests they'll do next week. In the meantime she's getting Procrit shots twice per week for her anemia. It's going to take awhile to get her hemoglobin back up. The lab work from Tuesday of this week showed the hemoglobin at 7.8, which is up a little from 7.0 last week.

I heard from two different people today that on Katie Couric's new talk show ("Katie"), there was a story today about a woman who found a living kidney donor through Facebook. Her daughter posted on Facebook that her mother needed a kidney, and they ended up matching her mom with a friend of a friend of a friend. Here is the link to a video of that segment of the show:

http://link.brightcove.com/services/player/bcpid1778770226001?bckey=AQ~~,AAABWfWhrnk~,FtZztaNxIqTVkSb1ju2Ka7JVAY8r79nB&bclid=0&bctid=1878682588001

I have jokingly mentioned to Mom in the past that we could post something on Facebook about her needing a kidney, but I don’t think she took me too seriously since A) She’s not a big Facebook fan, and B) Marqueta had offered to donate. Unfortunately we heard today that Marqueta had to go back on her original medication, so she is officially ruled out as a donor at this point. Laura and I both talked to Mom about posting something on Facebook about it, and she’s all for it now. So Laura, Amy and I will probably post something in the next day or two.


October 5: Mom went to the PD clinic this morning to continue PD training. They did two exchanges but were only able to drain out 1800 ml each time, after putting in 2000 ml. They told her to go home and do nothing all weekend, then come back Monday morning. Given this ongoing issue of not draining out all the fluid, and the fact that her chest x-ray from this week showed fluid on the right side again, my sisters and I are convinced at this point that peritoneal dialysis isn't going to work. I told them that I would go over to Mom's house this weekend to talk to her about it and hopefully convince her that we have enough data and we need to get her started on hemodialysis.

This afternoon I posted the following on Facebook:

Even though my mother has an iPhone and is actually checking email and doing a little web surfing with it, she still hates Facebook. Doesn't want to have anything to do with it. It's just a waste of time. Nothing but trouble. But she may change her mind soon, and you (yes, you!) can help. Wanna know how?

Donate a kidney.

Her kidneys aren't doing too well, and you would probably be just fine with only one. To learn more about kidney donation and how you or someone you know can convince my mom to be one of Facebook's second billion users, click this link:

http://www.kidneylink.org/LivingDonationOverview.aspx

And don't worry about being a good match for my mom. You can be a good match for someone else and still help my mom get a kidney as a result. Read about Paired Donation at the link to learn more.

October 6 (Saturday): I went over to Mom's house and we had a good discussion about the prospects of going on hemodialysis, given the most recent chest x-ray and the fact that they still aren't draining as much fluid as they are putting in. Since her nephrologist is only there one day per week (Thursday), and since she's gone this far with PD, she'd like to do these last tests they want her to do before deciding to go with hemodialysis. I can understand that she doesn't want to have any regrets about giving up on PD. We agreed that I would go with her to see the nephrologist on Thursday to review the latest test results and make a decision.

I took her to run a few errands, and although she still gets exhausted with just a short amount of walking, she did fine while we were out as long as we took it easy. Since she is so tired now (presumably due to the anemia) we arranged for Amy to take her to the PD clinic on Monday, and for Laura to pick her up.

Next up: Decision time.

[July 14, 2013: Minor edit]

Thursday, December 27, 2012

September 2012 - Doing the anemia limbo

This post covers the second half of September 2012.

September 22, 2012: Marqueta (potential kidney donor) told Mom her doctor has changed her medication to take her off the anti-inflammation medicine that meant she couldn’t be considered as a living kidney donor. If that goes well she’s planning on applying again in about a month. We're keeping our fingers crossed on that.


September 28: Mom has had little to no energy lately, much like she was in August when she was very low on iron (anemic)  and needed a Procrit shot. She’s in sort of a limbo situation right now since she has not started peritoneal dialysis. She’s not really under the care of the doctor at the PD clinic yet (Dr. S), nor is she officially under the care of her original nephrologist, Dr. V. She finally had some bloodwork done yesterday (Thursday, September 27) and they said her hemoglobin level was at 8, so they gave her a Procrit shot. (I think she’s supposed to get a Procrit shot whenever it’s below 10.) She went down to Austin after that since she didn’t feel like doing anything at home anyway, and Dr. S from the PD clinic called her today and said she definitely needed a Procrit shot because the lab work shows her hemoglobin at 7. (Apparently the lab work is more accurate than the test they do on the spot in the doctor’s office.) He said she needs to have two shots per week and have it tested weekly going forward until they get things under control. He also said it will take several weeks to bring her hemoglobin back up, and it won’t do any good to give her more than two shots per week. It’s really frustrating that they let her hemoglobin get that low, with her feeling so bad for so many days. Hopefully she’ll be more closely monitored once she starts the dialysis training again next week.

September 29: Today I finally published my first post on this blog. Better late than never, as they say.

Monday, December 24, 2012

September 2012 - Transplant and moving news

In the last episode of As The Amyloid Turns, we learned that Mom has been approved for a kidney transplant but only with a living donor. Then the next day a friend of the family volunteered to be a donor. This post will cover the first half of September 2012.

I can now identify the potential living donor (previously identified as "MK") as Marqueta. Over the next several days I did some research on living kidney donation and sent Marqueta a couple of links. I felt it was best for her to learn all she could before starting down that path. First was the site http://www.kidneylink.org/LivingDonationOverview.aspx, which  gives a good overview of the process. While looking into living kidney donation I also learned about paired kidney donation at the site http://www.kidneylink.org/PairedDonationOverview.aspx. Paired donation is where you have two potential kidney recipients (A and B), and they each have a living donor who is willing to donate a kidney. Recipient A's donor is not a good match for A but is a good match for B, and recipient B's donor is not a good match for B but is a good match for A. If all four parties agree then the donors can be swapped between recipients. So two people get kidneys from living donors immediately, instead of waiting for a living donor who is a better match.

In early September Marqueta faxed her living donor application to the transplant center, but on September 10 we found out that she can’t be a living kidney donor because of an anti-inflammatory medication she is currently taking. 
Marqueta is planning on asking her doctor if there are any alternatives to her current medication. We were all obviously disappointed with the news that she can't donate, but there is still a little hope.

September 12, 2012: Today I learned some exciting news via the familial amyloidosis support group. Our very own Nicola Lloyd, who lives in South Africa and has been diagnosed with fibrinogen amyloidosis, will be moving. (That by itself is no big deal.) To London. (Ok, that’s quite a change.) She’s moving to London to be on the CPHPC treatment being administered by the National Amyloidosis Centre in the UK. How cool is that? Previous updates in this blog regarding CPHPC can be found here and here. A very interesting journal article about the initial use of CPHPC in 31 human patients (six with fibrinogen amyloidosis) from 2001 through 2006 can be found here: http://onlinelibrary.wiley.com/doi/10.1111/j.1365-2141.2009.08036.x/full. The kidney function in the fibrinogen amyloidosis patients on CPHPC was significantly extended compared to patients who were not being given CPHPC. So we certainly hope Nicola has similar or better results.

Her treatment consists of two CPHPC injections per day. She’ll be having periodic SAP scintigraphy scans which graphically show the amyloid load in the body, and more frequent tests to monitor her kidney function. So now we have two trendsetters in our own little world of AFib patients. First there was Cathy Tidwell, who had the first liver-only transplant for fibrinogen amyloidosis in July of 2010. And now we have Nicola Lloyd taking part in the latest CPHPC study.

Next up: How is our pre-dialysis patient feeling?

Friday, December 21, 2012

August 2012 - Dialysis and transplant update

This post will cover the rest of August of 2012.

August 8, 2012 (Wednesday): Mom still has very little energy after the surgery on July 31, and she's starting to look a little jaundiced (yellow). Laura took her to the peritoneal dialysis (PD) clinic to have some blood work done.

August 15 (Wednesday): I went with Mom to her follow-up appointment with the surgeon who did the talc pleurodesis surgery (talcum powder and Fix-A-Flat). He said everything is looking good, and she can start peritoneal dialysis training whenever they need her to. The longer they wait, the better. Mom is still very tired and cannot walk very far at all without resting.

August 16: Mom met with her nephrologist (Dr. S) at the PD clinic. He said her numbers are ok and there is no need to start PD training yet. They'll check her again in about two weeks. Her recent exhaustion was likely due to being low on iron, and they gave her a Procrit shot at the PD clinic. It was a night and day difference comparing how she felt today vs. yesterday. I asked her if she started feeling better after the Procrit shot or the dialysis news, and she said it was a combination of the two.

August 28, 2012 (Tuesday): Remember the series of appointments Mom had in July regarding being evaluated for a kidney transplant? Her transplant coordinator called her today with some news. She has been approved for a kidney transplant, but only with a living donor. (The success rate is higher with living kidney donors compared to cadaver donors.) Although this was disappointing news, in some ways it makes sense because the wait would likely be two to three years before she would get a cadaver donor.

So now we need to start thinking more seriously about finding a living kidney donor. I'm out, since I also have fibrinogen amyloidosis. My sister Amy has tested negative for the mutation, but she had gestational diabetes during one of her pregnancies and diabetes is one of the conditions that prevents someone from donating. My sister Laura has not been tested for fibrinogen amyloidosis, but she has some health issues of her own that would likely rule her out, although she has those pretty well under control right now.

August 29: My uncle's wife and a friend of theirs (MK) that we have known for a few years came to visit Mom today. When Mom told them about the transplant situation, MK spoke up and said she would be willing to donate. Wow, we weren't expecting that. MK said she has always felt like if the situation arose and she knew someone who needed a kidney that she would be willing to donate.

So we finish August with Mom not yet needing to start dialysis. She's approved for a kidney transplant but only with a living donor, and a friend of the family has volunteered to donate. Remember when I suggested you fasten your seat belts as we entered July? As we enter September, be sure it has a shoulder harness and isn't just a lap belt like they have on airplanes.

Tuesday, December 18, 2012

July 31, 2012 - Photographic evidence of a robot attack

Warning  --  There is a photo at the bottom of this blog post which may be a little graphic to some people. It has some bruising and a few stitches, but no blood or open wounds.

July 31, 2012 (Tuesday)  --  Today Mom had the robot-assisted surgery on her right side to hopefully correct whatever issues were preventing her from doing peritoneal dialysis. (The procedure was talc pleurodesis, previously described here.) To keep your anatomical bearings straight, this surgery went into her chest cavity on her right side, above the diaphragm. This is the area where the lungs are, which is where the fluid from peritoneal dialysis should not go.

My sister Amy took Mom to the hospital this morning to check in, and she called me just before 10:00 AM with an update:
  • Her blood pressure was really good when they took it at the hospital this morning, and she has lost some more weight. (Most likely due to getting rid of the excess fluid.)
  • Her creatinine level is now 6.2, compared to 5.1 last week. (Lower is better, so that's not good. It's another indication of failing kidneys.)
  • Her potassium level is critically low, so they may need to give her a potassium substitute. (She's on a low-potassium diet, so I found that confusing.)
  • Her blood level is low, so she may need a blood transfusion during surgery. (Blood transfusions can complicate future transplant prospects, so hopefully a transfusion won't be necessary.)


I went to the hospital around lunch time and the surgeon spoke to me and Amy in the waiting room around 1 PM after the surgery. He said he was able to get a good look at everything. He didn't see any holes or tears in the diaphragm, so he applied some sort of sealant over the diaphragm which I suppose would plug up any small holes he was unable to see. The procedure with the surgical talc also went fine. He said there was very little extra fluid in there compared to what the x-ray showed last week, so the increased dosage of furosemide has been working.

He expects her to be up and moving a little bit tonight, and she will probably be able to go home tomorrow. Training for peritoneal dialysis can start again in about two weeks after a follow-up visit with him. He did not sum it up like this: "Patch her up with a little Fix-a-Flat and some talcum powder, and she'll be good for several thousand more miles."

I went to see her in the hospital the night of the surgery, and she was sitting up eating dinner. She was moving kinda slow and had some discomfort at the surgery site, but she had been able to get up with assistance and use the restroom. She was released from the hospital the following afternoon (Wednesday, August 1). I think she convinced them she was ready to be released because she was offered a sponge bath that morning, which she declined.

Her recovery after this surgery wasn't exactly a stroll in the park. She didn't take any pain medications after Wednesday, but there was still some lingering pain and it was several days before she could take a deep breath. I suppose that was due in part to the inflammation and scarring process taking place between her right lung and inner wall of her chest cavity, and partly due to the pain from the incisions where the instruments were inserted between her ribs on the right side. Speaking of incisions, although recovery from this robotic-assisted surgery was likely much less painful than the traditional method of spreading the ribs apart to take a good look, Mom will tell you that the robot was not all that gentle. At the bottom of this post is a picture I took of her right side on August 4, four days after the surgery. (Yes, she wanted me to post the picture on the blog.)

=== Blog News ===

I came across two interesting things while Googling the phrase "fibrinogen amyloidosis" recently. First, it's no surprise to find postings from this blog in the search results, but I was surprised to find the first paragraph of a recent post copied over to the web site www.aboutkidneydialysis.com. It was the post from December 12 titled "July 1 through July 23 - Gearing up for peritoneal dialysis training." The direct link is here. From what I can tell it looks like that site automatically searches for web pages that have certain key words like "dialysis" and copies them over in part or in full. Maybe there is a human involved to filter out stuff that doesn’t apply, since that certainly wasn’t the first post where I mentioned dialysis. They did provide a link to the original post on this blog, so that’s nice.

The second thing I found was a blog of someone in Norway. In the comments of an entry from March of this year a commenter had mentioned that his or her girlfriend's brother was diagnosed with fibrinogen amyloidosis, and he has been told he is the first person in Norway diagnosed with it. I replied with a link to this blog, but whether or not the person who commented reads it is anyone's guess. (The blog has had some hits from Norway in the past, and some recent hits since I posted the comment on that blog.) To all our readers from Norway, velkommen!

=== The Picture ===

Finally, here's the slightly graphic picture I mentioned earlier, of Mom's right side on August 4, 2012. 


Mom's right side, August 4, 2012
Photographic Evidence of a Robot Attack

These are the locations where the instruments were inserted into Mom's chest cavity for robotic-assisted surgery. I think I see a total of four incisions. No, that lowest one is not her belly button. Her belly is to the right in this picture and her back is to the left. I don't know why that one is indented so much. It looks like the outer layer of her skin is being pulled tight against a rib somehow.

Next up: Recovering from surgery, and transplant news

Saturday, December 15, 2012

July 24, 2012 - Peritoneal Dialysis Training

This post will cover Mom's first week of training for peritoneal dialysis. But first I'll jump to the end of that week and copy the initial paragraph of an email I sent to some extended family members the evening of July 30, 2012. My previous update to them was shortly after she had the PD catheter installed on June 28, so all they knew was that she would be starting dialysis soon:
Today (Monday, July 30) seems like a good day to update everyone on Mom's current health situation, since she's having talc pleurodesis via robotic-assisted thorascopic surgery tomorrow morning (Tuesday, July 31), while getting any holes or tears in her diaphragm repaired at the same time. Confused? Allow me to explain . . .
So how did we go from "starting dialysis soon" to diaphragm repair surgery? Like this:

July 24, 2012 (Tuesday)  --  Mom started peritoneal dialysis training today at the PD clinic. Before going any further, I need to define the word "exchange" in this context. In peritoneal dialysis, an exchange is a complete cycle where they drain a bag of dialysis fluid into the abdomen, let it sit for a time period known as the dwell time, then drain the dialysis fluid out of the abdomen after it has absorbed impurities through the peritoneum. (By the way, each bag of dialysis fluid is 2000 milliliters, which is 2 liters, which is just over 2 quarts, which is half a gallon.)

Mom's first exchange went fine, but she started feeling some discomfort during the second exchange so they stopped and immediately drained it. They thought maybe the catheter was irritating a nerve during the filling process, but then they thought she might be constipated, causing the fluid to rise higher than it normally would. They told her to go home, take a laxative, and they'll try again tomorrow.

July 25  --  Second day of PD training. Once again, the first exchange went fine but she started feeling really bad during the second exchange so they stopped. They sent her to get a chest x-ray to hopefully find out just where the end of the catheter is and determine why she's experiencing so much pain. Peritoneal dialysis should not cause any pain.

July 26  --  Mom met with the nephrologist at the PD clinic today. (This is not Dr. V, the nephrologist she has been seeing for years. Once you go on dialysis, you are under the care of a nephrologist at the dialysis clinic.) Her nephrologist is now Dr. S. He talked to her during the second exchange, which went a little better but still caused her some discomfort. Based on yesterday's chest x-ray he thinks she may have a hole or a tear in her diaphragm, due to the amount of fluid around her lungs. That means she can either do hemodialysis or get the hole in the diaphragm closed up and try PD again after that heals, which he thinks would be about four weeks. As you can probably guess, Mom the globetrotter would like to stick with PD, so Dr. S said he'd look for a surgeon for her.

In the meantime, she’s on a very strict diet of low potassium and phosphorous to avoid the need for hemodialysis in the interim. Dr. S has also prescribed a heavier dosage of Lasix (furosemide) to reduce the fluid she has retained as a result of the hole in the diaphragm. Due to the amount of fluid in her chest cavity, she is becoming exhausted with minimal exertion. So today wasn’t really a good day.

July 30 (Monday)  --  Mom's appointment with the surgeon is scheduled for 3 PM today. The surgeon's office called her this morning and said that due to a cancellation they have an opening for surgery for tomorrow (Tuesday), and would she like to be penciled in there pending the results the appointment this afternoon. Mom and I agreed to go ahead and do that, since time is of the essence.

So we met with the surgeon at the 3 PM appointment. After he took Mom's medical history and did a brief exam, he pulled up her chest x-ray on his computer and it showed a lot of fluid around her right lung. He then explained his recommendation, which is a procedure called talc pleurodesis. It involves applying a surgical talc to the outer surfaces of the lungs and the inner lining of the chest cavity, which causes inflammation, essentially causing the lungs to adhere to the walls of the chest cavity due to scarring. That more or less closes up the cavity above the diaphragm, so any fluid that leaks past the diaphragm really has no place to go. A side benefit is that it prevents the possibility of a collapsed lung, because the lungs will be attached to the walls of the chest cavity. Regarding the diaphragm, there's really no way to know for sure what's going on there without taking a look. He said it's hard to tear the diaphragm even with violent coughing, so it could be a congenital defect she's had since birth, or it might be that it just doesn't completely close off the top of the abdominal cavity for whatever reason. He won't really know until he goes in and takes a look, so that aspect of the surgery really is exploratory. That's why he recommends doing the talc procedure, so even if the diaphragm isn't repaired, or if it fails later, the cavity above the diaphragm will be closed off. We both felt good after talking to the surgeon and Mom decided to proceed with the surgery Tuesday morning. He said she'd be in the hospital one or two nights, then completely healed within 10 to 14 days.

Speaking of robots, the surgeon said the traditional way of doing this type of surgery would be to make a large incision in the side and spread the ribs apart to gain access. There is obviously lots of post-op pain associated with that. He's a big advocate of robotic surgery now, and he said with robotic surgery they only make four small incisions in the side, and there is no need to spread the ribs because the instruments are so small. I looked at his web site (www.jettmd.com) and learned that the robotic equipment he uses is the da Vinci Surgical System, so naturally I had to check out their web site (www.davincisurgery.com). That site had lots of great stuff for a geeky engineer like me. If you want to watch the robot in action but would rather not look at a surgery video, there are many many videos of it on Youtube where it's being used to peel a grape. Just search for "davinci surgery grape."


Next up: Robots!

Wednesday, December 12, 2012

July 1 through July 23, 2012 - Gearing up for peritoneal dialysis training

July 1, 2012  --  As I mentioned in the previous post, today Mom, Ed and I went to the home of a married couple (GM and CM) who attend the amyloidosis support group meetings. GM is on peritoneal dialysis (PD), and I know he and CM have taken multiple cruises since he's been on PD. We learned that GM has AL amyloidosis which affected his kidneys. He started with hemodialysis but switched to PD a couple of years ago. He said when he was doing hemodialysis he would be exhausted the rest of the day after a dialysis treatment and sometimes into the next day. He feels much better now that he's on PD.

GM does his dialysis overnight while connected to a machine that automatically fills and drains the dialysis fluid while he's sleeping. (I think he has to do it five nights per week, but that depends on the patient's dialysis needs.) He showed us his home setup and walked us through the steps of what he does to get the process started in the evenings. He can disconnect from the machine temporarily if he needs to, so it's not like he's tied to the machine for eight hours.

He only did PD manually during his training, then he started doing it overnight with the machine as soon as his training was complete. The machine itself isn't tiny. I'd say the footprint is about twice as large as the average printer you might have at home, but it's not quite as tall. It does have its own case for traveling and I think it weighs between 25 and 30 pounds, so it's like traveling with an extra suitcase.

We discussed the logistics of ordering the monthly supplies, what it's like to travel while on PD, what it actually feels like when the dialysis fluid is inside, etc. We also discussed dietary restrictions while on PD and how they deal with that at home and while traveling. GM and CM also told us of their experiences with the local PD clinics, so we have something to think about there. All in all it was a great discussion and we learned quite a bit about what would be in store for Mom once she starts PD.

July 9, 2012 (Monday) --  Mom went to the PD clinic today to have her catheter flushed. I don't recall just where we heard this from, but supposedly a PD catheter that isn't being used needs to be flushed out weekly to make sure it doesn't get clogged up. She certainly wasn't told that when the catheter was inserted. Seems like that might be an important part of the post-op instructions. Anyway, while she was at the PD clinic they said they'd like to start the training sooner rather than later, but they need to make a home visit first to see where she’ll be putting the equipment, running the hoses, etc. She scheduled the home visit for Tuesday of next week (July 17), but she’s got a fair amount of work to do before then, mainly getting her bedroom closet cleaned out to make room for supplies.

July 10, 2012 -- Today I went with Mom to several appointments at the pre-transplant office of Dallas Nephrology Associates, to begin the full evaluation for a kidney transplant. In addition to some medical stuff like drawing blood and a basic physical exam, there was also one meeting that went over the basics of kidney transplantation, and another where we met with a nutritionist. There were no major revelations, and they said her case may go to the transplant committee in August if all the pieces come together. Given their unfamiliarity with fibrinogen amyloidosis, the nephrologist asked if we could get a letter from Mom's doctor stating that a kidney transplant was appropriate for her. Since she doesn't really have any local doctors who are all that familiar with treating fibrinogen amyloidosis, I suggested we get a letter from one of the doctors at Boston where she was diagnosed. I took the action item to get that letter sent, and I also volunteered to send the nephrologist a couple of journal articles about the use of transplants in treating fibrinogen amyloidosis. (Articles? Yes, I have articles.)

July 11, 2012 -- The PD clinic left messages for Mom yesterday and she called them back today. Apparently there was some miscommunication somewhere along the line and they said they want to do the home visit this Friday (instead of Tuesday of next week like originally scheduled), then start PD training on Monday. Mom told them there was no way she’d be ready for a home visit on Friday, and she has a funeral to go to anyway. Plus, she can’t start training on Monday because she has two doctor appointments that day, one of which is the follow-up visit with the surgeon who inserted the catheter. The lady at the PD clinic wasn’t happy about it, but that’s life. It seems like the communication regarding the catheter and the PD training has been nothing but awful. Thank goodness it’s not an urgent situation.

July 16, 2012 (Monday) -- As part of the pre-transplant evaluation, Mom had a chest x-ray and went to an informational session today regarding transplant costs. She’s been feeling nauseous since we did some work at her house on Saturday to get ready for the home visit tomorrow.

July 17, 2012  --   Mom’s feeling a little better today, but she did call the PD clinic this morning about her nausea. They suggested she call the surgeon who inserted the catheter. They don’t think it’s anything serious since there is no fever (not over 100) and the surgery site looks fine. (Infection associated with a PD catheter can become serious very quickly if it leads to peritonitis.)

The home visit from the PD clinic was scheduled for this afternoon, but the person Mom talked to about her symptoms this morning decided, without telling Mom, to cancel the home visit. Geez, can the communication get any worse? The home visit has now been rescheduled for tomorrow.

July 18, 2012  --  Mom’s home visit from the PD clinic went well. They noticed her ceiling fan blades needed to be cleaned, and they also said she needs to close the vents in her room when she’s making connections. It seems like they really want to minimize the chances of stuff blowing around while making the PD connections. I wonder how easy that’s going to be when she’s doing this away from home?

We went out to dinner with her to celebrate her birthday a day early. She’s slowly recovering from her nausea or whatever it was earlier in the week, but she's nowhere near 100%.

July 19, 2012 -- Mom has bronchitis. Happy birthday!

July 23, 2012 (Monday) -- Mom saw the surgeon who inserted her PD catheter today, and he gave her the OK to start PD training. She’ll start tomorrow.

Saturday, December 8, 2012

June 2012 - Support from the support group, and a little surgery

June 9, 2012  --  I went to the amyloidosis support group meeting today. As is usually the case, Mom could not attend due to traveling, this time to Hawaii. The speaker was Dr. M from Mayo Clinic in Arizona, and I really enjoyed listening to him. He explained complicated subjects very well and he was very entertaining. There were a total of 30 attendees at this meeting, with at least 14 patients. For some reason my note taking was a bit weaker during this meeting, such that I have no notes at all on nine people. So there were probably more than 14 patients.

A new family there was two sisters whose father has familial amyloidosis (one of the ATTR variants) and he has had a heart and liver transplant. One of the sisters had tested positive for the mutation (she's currently asymptomatic) and the other sister had not been tested yet. (Another sister not at the meeting has not been tested, either.) When one of them was telling their story, I could tell she was wrestling with some of the questions and issues that come up when knowledge about a hereditary disease is relatively new to family members. We were only able to talk briefly after the meeting, but I gave her my contact info and we swapped several emails over the next several weeks. Our situations are somewhat similar in that we both have a parent affected by familial amyloidosis, and we have both tested positive for the mutation but we are currently asymptomatic. So I think it did us both some good to be able to discuss our respective situations and share some information.

Someone who was not present at the meeting, who I really wanted to talk to, was a man who I knew was on peritoneal dialysis. Since I knew Mom would be starting PD in the next few months, I was wondering if he and/or his wife would mind if my mother called them to talk about being on PD, the logistics of dealing with supplies, what it's like to travel while on PD, etc. I got their contact info from the facilitator of the support group and sent them an email. They offered to have us come over for a visit and see his home setup, and we eventually found a date in July that would work for all of us. I'll talk about that visit in the next post.


June 28, 2012  --  Mom had the surgery today for inserting the peritoneal dialysis catheter in her abdomen. It was done on an outpatient basis, and there were no complications. (If you want to watch a video of that type of surgery, search for "peritoneal dialysis catheter surgery" on YouTube. There was almost no blood in the video I watched.) The PD clinic can start training her after that heals. At this point there is no rush to start dialysis, and the PD clinic has not given her a start date for the training.

As we get into July of 2012, please fasten your seat belts.

Friday, December 7, 2012

April and May, 2012 - Learning about peritoneal dialysis, and some good news

This post will cover a few things from April and May of 2012.

April 11, 2012  --  Today we went to a peritoneal dialysis clinic to learn all about, well, peritoneal dialysis. Mom's travel buddy Ed and my sister Amy also came with us. I had never heard of peritoneal dialysis (PD) until it I heard it mentioned at the amyloidosis support group meetings I went to in 2010. I assume when most people hear the word "dialysis" they think of hemodialysis, which is where the patient is connected to a dialysis machine a few times per week and the machine cleans their blood as it cycles through. Peritoneal dialysis (PD), on the other hand, involves draining a fluid into the abdomen to absorb impurities through the wall of the peritoneum, then this "dirty" fluid is drained out of the abdomen. This process is repeated as often as necessary, depending on the needs of the patient. The patient does this at home either doing several of these fluid exchanges during the day, or having a machine do the exchanges automatically overnight. It's easy enough to find out more about peritoneal dialysis on the internet, so I won't get into too many more details here.

They first had us watch a 15 to 20 minute video about peritoneal dialysis, then a nurse walked us through the basic process of doing the manual exchanges and answered whatever questions we had, especially regarding travel while on PD. It's a bit of work on the part of the patient (traveling or not), but the clinic trains the patient before they start doing it at home. The supplies, including the dialysis fluid, are delivered to the patient's home. The biggest aha moment for us was when they showed us about a month's worth of supplies of the fluid. Thank goodness the delivery person will stack it wherever you want inside your house, because it looks like a month's worth of fluid boxes will take up close to half of Mom's closet.

We didn't learn anything at the PD clinic to steer us away from peritoneal dialysis and consider hemodialysis instead, and the people at the clinic also strongly recommended PD over hemo. So Mom will let Dr. V's office know and they'll have Mom see a surgeon to discuss inserting the PD catheter in the abdomen.


May 16, 2012  --  We found out today that my sister Amy does not have the mutation for fibrinogen amyloidosis, so that's finally some good news, especially since she has two children. (People will sometimes shorten the word "amyloidosis" to "amy." So now we can say Amy does not have amy.) My other sister has not yet been tested.


May 21, 2012  --  Mom's application for a kidney transplant was not rejected, so the next step was to meet with a doctor for a brief exam and consultation. I went with her to this appointment. I think he talked about the surgery itself and what to expect post-transplant. I don't recall anything else significant from this appointment that is worth going into here. I believe the way we left this appointment was that he would present his report to the transplant committee and they would decide whether or not to proceed with the full evaluation.

Remember the Resources Page I added way back on November 20? At the time I thought the first section would have maybe 10 journal articles related to fibrinogen amyloidosis. Well, since then I have started looking at the references at the end of the articles I already have, pulling up some of those articles, looking at their references, etc. So now there are 16 articles listed on the Resources Page, and I have 19 more in my list for a total of 35. (13 of those I haven't found copies of yet.) They don't all deal primarily with fibrinogen amyloidosis, as some go back to before the fibrinogen mutation was discovered, but they're all related in some way to either the history, diagnosis, or treatment of it.

Wednesday, December 5, 2012

February - March, 2012 - The D word

This post will cover a few events from March of 2012. (Incidentally, it took 25 blog posts to cover 2010, and only 9 posts to cover 2011. That downward trend will definitely be reversed in 2012, in case you're wondering.)

March 1, 2012  --  I went with Mom to her nephrologist appointment today. We told Dr. V about the denial for a liver-only transplant, and that the committee recommended she try for a kidney transplant. Dr. V felt like Mom's kidney function was low enough now that she would qualify for a kidney transplant, so we got another kidney transplant application to complete and submit.

Dr. V also told Mom that based on her most recent lab work and how things are trending, they needed to start thinking about dialysis over the next several months. Mom's decision on which type of dialysis she chooses to try (peritoneal or hemo) will determine what has to be done to prep the body for dialysis (catheters and such). Since Mom had already been to the class about chronic kidney disease in October of 2011 and we were still leaning toward peritoneal, she wanted Mom to visit a peritoneal dialysis clinic to learn more of the details about peritoneal dialysis.

March support group meeting  --  Mom and I both missed the amyloidosis support group meeting in March due to our travels. I was in Charlotte and she was in Hawaii.

March 23, 2012  --  Nicola Lloyd informed me that one of her relatives had tested positive for the mutation but was currently asymptomatic, and another relative was planning to be tested soon. It's good to hear about people being proactive about genetic testing, since that will likely eliminate a lot of unnecessary suffering. She also said she would find out soon if she was going to be part of the upcoming CPHPC trial being conducted by the National Amyloidosis Centre in the UK. Since that is the only drug trial on the horizon that would treat fibrinogen amyloidosis, these human trials with CPHPC are exciting news for us aFibs.

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So about a month after being told she wouldn't qualify for a liver transplant, Mom is told to prepare for going on dialysis. We weren't expecting to be faced with dialysis this soon, but perhaps that episode in Russia last July accelerated things a bit. Again, that's something we can never know for certain. But Mom's not letting any of this amyloidosis stuff slow her down at this point. In March of 2012 she and Ed spent two weeks in Hawaii, and less than 48 hours after returning from that trip they departed for a two week cruise around the Yellow Sea, with ports of call in Vietnam, Korea, China and Hong Kong. At this time they had already booked a Caribbean cruise in May, and later they booked another trip to Hawaii in June. That adds up to three weeks of cruising and three weeks in Hawaii, all in the first half of 2012.

Next up: Learning about peritoneal dialysis


Monday, December 3, 2012

January 30, 2012 - Looking for a liver

On January 30, 2012, Mom and I met with Dr. O of Liver Consultants of Texas (associated with Baylor Hospital) to see about getting Mom evaluated for a domino liver transplant. Dr. O was familiar with domino transplants and with the role of the liver in fibrinogen amyloidosis, so I didn't need to explain any of that to her. After going over Mom's medical history and why we were there, Dr. O told us something we were totally not expecting to hear. She said Baylor has a hard cutoff of 40% kidney function to qualify for a liver only transplant. The primary reason for that is the anti-rejection medicine that is required after a liver transplant is very hard on the kidneys, so there is too much risk of damaging the kidneys and forcing a patient onto dialysis, which leads to a poor prognosis after a liver transplant. She also said Mom's current pulmonary condition, having quit smoking only a couple of years ago, would make any organ transplant very risky for her. She said the actual surgery for a liver transplant was similar to running a marathon in terms of the stress on other organs.

We were totally surprised when we heard this 40% figure, especially since Mom had submitted an application in October of 2010 for a liver-kidney transplant and at that time she was told her kidney function was not low enough to qualify for a transplant. We mentioned the previous transplant application to Dr. O and she said she would look into it. The way we left it was that she would present Mom's case to the transplant committee later that week and then call me with their recommendation. As I understood it, the three possible decisions from the transplant committee would be: A) Rejected as a transplant candidate, B) Accepted and proceed with a full medical evaluation, or C) Tentative approval, but proceed with a mini-evaluation and make a decision based on that. So we did hold out a little hope that she might get the tentative approval.

Dr. O called me later that week after presenting Mom's case to the transplant committee. Unfortunately she was rejected as a candidate for a liver-only transplant, but the committee did recommend that she apply for a kidney transplant. Dr. O also found out that the transplant application we submitted in October of 2010, which we thought was for a liver + kidney transplant, was evaluated as if it were for just a kidney transplant. That would explain the rejection at that time, since her kidney function was definitely above 20% toward the end of 2010.

Needless to say, we were both really bummed out over this turn of events. I did a lot of second-guessing and asking myself how we could have proceeded differently from the beginning, given what we know now. To say I have run through a lot of what-if scenarios would be an understatement. In retrospect, I don't think we had the diagnosis of fibrinogen amyloidosis soon enough to get a liver-only transplant, as Mom's kidney function was already below 40% at that time. But the reality is we'll never know what would have happened if we had started pursuing a liver-only transplant in the summer of 2010.

The medical literature at that time had no reports of liver-only transplants to treat fibrinogen amyloidosis, although some articles have proposed that a liver transplant may be curative. (After all, the first one was Cathy Tidwell's in July of 2010.) Even as of this writing I am only aware of one mention of Cathy's liver-only transplant in published medical literature (one paragraph in this article from June of 2012: http://informahealthcare.com/doi/abs/10.3109/13506129.2012.668503). But it is certainly being discussed among the amyloidosis community, at least in the UK (see this presentation from February of 2012, especially at the 12:27 mark: http://standard.kuluvalley.com/view/BVvHz9LbMI1).

With a liver transplant apparently ruled out, we'll see what happens with another kidney transplant application. We know a new kidney will eventually become affected by amyloidosis again if the liver is still producing amyloids, but the time frame for that varies considerably from patient to patient, so that still seems like it's worth pursuing.

Saturday, December 1, 2012

December 2011

We'll wrap up 2011 with a post covering the month of December. Since this is the first post of this month, there will be some blog stats at the end. (Even more interesting than last month's blog stats. Trust me.)

First, a quick update on me. I had my annual physical exam on December 14, 2011, and everything was still normal. I had also requested a 24-hour urine collection just to have that as a baseline for proteinuria. There was no indication of protein in the 24-hour collection, so hooray for me. I'm still asymptomatic.


As you recall, we had gotten excited about pursuing a domino liver transplant for Mom after talking with Cathy Tidwell at the familial meeting in Chicago. I don't think I've defined "domino liver transplant" in the blog before, so I will now. (Feel free to skip the rest of this paragraph if you don't need the lesson.) A domino liver transplant is when a liver from a deceased person (person A) is transplanted into a recipient (person B), and then the liver removed from that recipient (person B) is transplanted into a second recipient (person C). Liver A goes to B, liver B goes to C, liver C is disposed of. This procedure can be done when person B has just a little something wrong with their liver that makes it undesirable for person B, but person B's liver would be suitable for person C. In the case of fibrinogen amyloidosis the liver is the source, or "factory," of the misfolded proteins (amyloids) that get deposited throughout the body, primarily in the kidneys. Since it takes 40 years or more to see the impact of these amyloids, that liver (assuming it's good otherwise) would do just fine to extend an older person's life by 10 or 20 years. So one donated liver permits two people on the transplant list to get new livers.


Mom talked to her internist about this at her annual physical in November, and her internist gave her the names of two hepatologists (a hepatologist is a liver doctor, not to be confused with a herpetologist, which is someone who studies reptiles and amphibians.) On December 6, 2011 I went to Mom's quarterly nephrologist appointment with her. Her nephrologist wondered how successful a liver transplant would be for Mom given the amount of scar tissue she's likely to have in her kidneys, since scar tissue doesn't heal. She recommended we do two things. First, talk to a liver specialist about having Mom evaluated as a candidate for a domino liver transplant. Second, she asked if she could get some more info on Cathy's situation from her nephrologist, to find out what Cathy's kidney function was pre-transplant, how long she had had kidney problems, etc. So the nephrologist wasn't totally sold on the idea just yet, but she made some practical recommendations.


I swapped some emails with Cathy Tidwell over the next few days and put together a one-page chronology of her kidney history based on what she told me and what she had already written in her blog. The short version is that she was very close to needing dialysis at the time of her liver transplant in July of 2010. As of December of 2011 her kidney function was just good enough that she would not qualify for a kidney transplant. So although it's slow improvement and it may have stabilized there, it's still some improvement, which is much better than a decline.


Another interesting thing I learned from discussing this with Cathy was that she was the first fibrinogen amyloidosis patient to receive a domino liver transplant. She learned that herself at the familial meeting in Chicago. Up until then I had thought that a liver only transplant was a standard procedure for some fibrinogen patients, but now that I look again at the journal articles that reported on multiple patients with fibrinogen amyloidosis, I see that all of those patients with transplants received either a kidney or a liver and a kidney.


In December I also made an appointment with one of the liver specialists that had been recommended by Mom's internist. Unfortunately the earliest appointment we could get was January 30, 2012. So we'll have to wait until well after the holiday season to see about having Mom evaluated for a liver transplant.


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New and Improved Monthly Blog Status Update

As previously mentioned, 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.

Months behind as of November 2012: 27
Months behind as of December 2012: 12
Total posts: 34 (15 in November)

New categories:

Email subscribers: 3 (Don't worry. I can't see the email addresses used to subscribe, only the count.)

Number of countries that have viewed the blog: 14
 
Prior to November, I think the blog had only been visited by people in the US, UK, Germany and Russia. The country list expanded quite a bit this past month, at least partially due to being mentioned on the familial amyloidosis support group. Here's the current country list, in order of total pageviews:

United States
United Kingdom
Russia
Germany
Poland
Sweden
Canada
France
Norway
China
Philippines
Ukraine
Egypt
Japan

So, welcome to all of our international readers.

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: 
http://www.amyloidosissupport.com/support_groups/familial.html. 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 (www.familialonline.com), 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?