Physician awareness

General
1

It is 9 years since my diagnosis. I am luckily living a pretty normal life now. I was reviewing the course of my case over the years, and the thing that stood out was how physicians don't think of amyloidosis when trying to find the cause of patient symptoms.

Granted, it is a relatively rare disease, but I think that is partially due to its not being diagnosed enough. I think physician awareness is the goal of the Amyloidosis Foundation, and I am grateful that they are working on that.

My diagnosis story is unusual. My job was cardiac testing, and I just routinely ran an EKG on myself every year. When I was 50 I saw it change a tiny bit. I thought, oh well, I'm aging. The next year it changed a little bit more, and I shared my concern with a cardiologist I worked with, and he said it was nonspecific. But it bugged me, and I asked for a cardiac stress test. He said ok, and a stress/echo test was done. It came out really abnormal and he immediately said I had cardiomyopathy. Right then and there he re-asked me about my and my family's medical histories. What I remember in my mind most is the image of him pacing back and forth, trying to figure why a 51 year old woman would suddenly have cardiomyopathy. Amyloidosis was not a thought.

In my opinion this man was not a bad cardiologist, but amyloidosis did not enter his mind, and of course I had never heard of it. Two years later when I began having kidney symptoms, a kidney biopsy was done and the amyloidosis diagnosis was made. So I could have started therapy two years earlier if amyloidosis had been linked to the cardiomyopathy.

I never went to one of the big medical centers that specialize in amyloidosis, but I did go to a hematologist who was active at one of them. Luckily my 6 years of taking Thalomid and Decadron has finally halted the progression for now. But the restrictive cardiomyopathy and nephrotic syndrome remain, though stable for now.

I guess I am just lamenting how amyloidosis remains in the back of the minds of many physicians, causing a delay in initiation of therapy, that could mean the difference of life and death.

2

I’m afraid yours is an all too common story, SheSurvives. Raising awareness for AMY is really important. I am glad you are able to live a normal life, and I hope that continues for a long time. All the best to you!

3

Hi SheSurvives,

Your story is very similar to mine. I started with stomach problems in 2006--had GI work done but they found nothing. Then, I noticed hair and nail issues--had blood work done--showed nothing. Saw a dermatologist who put me on vitamins--I did not see any changes. I had carpal tunnel problems (who doesn't?)--a play the piano and work on the computer a lot. I saw a hand surgeon after the nerve conductor test that showed I had it and he said before surgery, we needed an updated EKG.

In the meantime, due to the hair and nail issues as well as concerns I had about a very odd fatigue, I asked for a referral to an endocrinologist ( I thought I had thyroid or hormonal issues). I was 53 at that time. I saw the endocrinologist who did a ton of blood work and found high markers for an auto immune disease--she referred me to a rheumatologist.

At the same time, I had the EGK for the carpal tunnel surgery clearance and my doctor saw an irregularity and ordered a stress test. I took that and did well during the test but went into complete afib when I got off the treadmill. That got a referral to cardiologist who thought I had blockages or valve issues and ordered a cardica CT. I passed that with flying colors--no blockages and no valve issues. He told me to take an aspirin and cleared me for the carpal tunnel surgery which went well.

I then saw the rheumatologist who ordered more tests and found no auto immune disease but did find MGUS and thought I should see an oncologist for possible multiple myeloma. I did that--had the bone marrow biopsy and some other tests. They found 15% plasma cells. However, this doctor had listened to all of my other tests and doctor's visits. She ordered an abdominal biopsy which was done very quickly and revealed amyloidosis--she had put it all together! She sent me, within two days, to a specialist.

That was June 1, 2012 (six years after the first symptoms were tested). He ordered a ton of tests--all revealed no organ damage (really lucky). I stared velcade on June 19, 2012-had 20 treatments and then a SCT on 12/12/12.

Now, we are monitoring the counts each month. I did get into clinical remission after the SCT but the counts have been on the rise almost every month since.

We have decided that we will begin velcade once I hit 1/2 of where I was before so that I can avoid any damage. I have my cells stored for another transplant at some point in the future but I am hoping they will come up with a cure before I need to do that.

I live in Pittsburgh and am lucky to have a very experienced specialist as my physician. He keeps in touch regarding my case with doctors at Mayo and Boston and all are in agreement on what we are doing. I am very lucky that I am doing well and without organ issues. I am now 56 years old. Hard to believe that it took six years to get to the problem. I am lucky that I am someone who knew something was not right and kept pushing to another doctor to get the answers.

There needs to be much more education on this and much more work to a cure!

4

Dearest SheSurvives,

Thank you so much for sharing your story. My prayer will always be that a cure for AMY will be found soon.

Stay Strong & Stay Positive!

5

Thanks so much for sharing your story. I actually have never met anyone else with amyloidosis. Like you, I had carpal tunnel, but used a computer a lot, so who knows. I also was really dragging around, though functional, so I knew something must be happening to me. When I finally was diagnosed too, the hematologist thought I might be developing multiple myeloma, but that didn't happen thankfully. I've seen him write MGUS.

It's weird having a rare disease. No walks, 10k runs, or bake sales for our disease, because no one has ever heard of it. But the important thing is that it appears that more and more people are surviving.



DBT said:

Hi SheSurvives,

Your story is very similar to mine. I started with stomach problems in 2006--had GI work done but they found nothing. Then, I noticed hair and nail issues--had blood work done--showed nothing. Saw a dermatologist who put me on vitamins--I did not see any changes. I had carpal tunnel problems (who doesn't?)--a play the piano and work on the computer a lot. I saw a hand surgeon after the nerve conductor test that showed I had it and he said before surgery, we needed an updated EKG.

In the meantime, due to the hair and nail issues as well as concerns I had about a very odd fatigue, I asked for a referral to an endocrinologist ( I thought I had thyroid or hormonal issues). I was 53 at that time. I saw the endocrinologist who did a ton of blood work and found high markers for an auto immune disease--she referred me to a rheumatologist.

At the same time, I had the EGK for the carpal tunnel surgery clearance and my doctor saw an irregularity and ordered a stress test. I took that and did well during the test but went into complete afib when I got off the treadmill. That got a referral to cardiologist who thought I had blockages or valve issues and ordered a cardica CT. I passed that with flying colors--no blockages and no valve issues. He told me to take an aspirin and cleared me for the carpal tunnel surgery which went well.

I then saw the rheumatologist who ordered more tests and found no auto immune disease but did find MGUS and thought I should see an oncologist for possible multiple myeloma. I did that--had the bone marrow biopsy and some other tests. They found 15% plasma cells. However, this doctor had listened to all of my other tests and doctor's visits. She ordered an abdominal biopsy which was done very quickly and revealed amyloidosis--she had put it all together! She sent me, within two days, to a specialist.

That was June 1, 2012 (six years after the first symptoms were tested). He ordered a ton of tests--all revealed no organ damage (really lucky). I stared velcade on June 19, 2012-had 20 treatments and then a SCT on 12/12/12.

Now, we are monitoring the counts each month. I did get into clinical remission after the SCT but the counts have been on the rise almost every month since.

We have decided that we will begin velcade once I hit 1/2 of where I was before so that I can avoid any damage. I have my cells stored for another transplant at some point in the future but I am hoping they will come up with a cure before I need to do that.

I live in Pittsburgh and am lucky to have a very experienced specialist as my physician. He keeps in touch regarding my case with doctors at Mayo and Boston and all are in agreement on what we are doing. I am very lucky that I am doing well and without organ issues. I am now 56 years old. Hard to believe that it took six years to get to the problem. I am lucky that I am someone who knew something was not right and kept pushing to another doctor to get the answers.

There needs to be much more education on this and much more work to a cure!

6

You are welcome. I knew of three people with amyloidosis--prior to my diagnosis. And, known of them had good outcomes but they were awhile ago. The first was the Mayor of Pittsburgh--Richard Caliguiri--he died in 1988--about 8 months after he was diagnosed. The second was the governor of PA--Robert Casey--he had a liver and heart transplant and lived a few more years--he died in the late 90s, I think. The third was my daughter's best friend's mother--they were seniors in high school and her mom died within a few months--that was in 1998. That was all I knew so I thought I would not have a long time to live. My daughter and son-in-law were nine months pregnant when I was diagnosed--my first grandchild as I only have one daughter. I thought that baby would never know me or how important she was to me before I ever met her. Now, she is over two and the light of my life. I measure everything in terms of her--how much more time do I need to get for her to remember me. I believe that I will be around for awhile but more needs to be done regarding awareness of this illness and I plan to take a much more active role in doing so.

I was a university Vice President and working a 75-80 work week--I returned to it a few weeks after the transplant(from home) and then to the office within about 8 weeks. I was active with my office from the transplant unit. But, I found in the following year that I don't quite have the energy that I need to work those long weeks and still have some to enjoy life. So, in March of 2014, I moved to my tenured faculty position and it keeps me busy but gives me more time and less stress. I spend as much time as possible with my little one and I love it! So, I want to get more involved with the battle regarding this illness. I subscribe to several medical journals and dig for every research article I can find. Fortunately, my doctor is great at sharing what he finds and answering any very technical questions that I can't figure out on my own. He is really wonderful and I am so grateful for him.

Have you had a transplant? Where are your counts now if you don't mind me asking? How high were they at diagnosis? How are your organs?

I don't know anyone in my position with this right now--no organ damage at all but still with all of the problems of this illness. Would love to hear more about your situation--are you able to work at all? Please share anything you are willing to share.

7

No transplants here. If need be I would consider a kidney transplant, but a heart transplant is not my cup of tea. The first couple of years after diagnosis (2005) were pretty rough. Repeated pleural effusions, intestinal problems (I think from the massive doses of Decadron). Very easily short of breath. I do not think I would have survived a SCT. I had to have several intestinal surgeries & kind of tanked during them. Also had to have 2 cataract surgeries due to the long term use of Decadron.Thankfully I was able to continue with my medical technician job until last year when my department was eliminated. I decided not to pursue a new job at age 61. I am able to modestly get by financially. I'm now on Obamacare and it's serving me just fine. The first thing I did after I stopped work was begin walking. I now walk 2.5+ miles at least three times per week. I just walk at my own pace and stay off of the hills. I do just fine, though I'm fairly tired the last 1/2 mile or so. I don't have my lab numbers off the top of my head, but I do the kappa/lamda blood test every six months now for my hematologist, and for about 3 years the results have looked "normal". My nephrologist keeps tabs on my creatinine & albumin. Those levels are not normal, but they are stable. He says I'm stage 3 kidney disease. My restrictive cardiomyopathy by echo has been stable for several years now. Believe me, I know I'm a lucky gal.

8

Thank you for sharing these with me. My light chains (lambda are my issue) are climbing but no need to do anything, yet. I will need to return to velcade at some point (I react very well to it) and, maybe, another SCT. I am glad to see that you have been okay for 9 years--that is comforting to know since I am only 2 years out from SCT. You and I were diagnosed around the same age.

I have not tried to walk a lot, yet. I have two herniated discs in my back that have given me a lot of grief. But, they seem to be getting a bit better and walking is supposed to help them. So, I have plans to begin a walking regimen. My first eight weeks of the semester was really busy--teaching night classes and online. But, the current schedule is lighter and I should have more time to walk once I submit grades at the end of this week:)

Please feel free to exchange information any time!

9

It is amazing that you've kept up with your teaching duties. I had so many different medical issues going on during my first few years after diagnosis that I didn't walk at that time. The few times I did try to take a walk I nearly fainted. Last year, when I began walking in earnest, I did a tentative two block walk to see if I was going to nearly faint like before. When it went fine, each day I increased the length of the walk. I do find though, that the 2.5 miles is my limit, even after doing it for a year. It seems when I hit the 2 mile point my endurance starts declining.

Though I was sad to lose my job after so many years, I have found that I am leading a much more peaceful life in retirement, and that has to be good for my health. Through these 9 years since diagnosis, the only time I nearly kicked the bucket was post op after intestinal surgery. Otherwise it was just enduring the side effects of the Thalomid and Decadron.

At the time of my diagnosis (2005) the literature said that amyloidosis was mostly diagnosed in older males. So it is intriguing as to why a woman in her 50's would develop it. No Mediterranean ancestry. No one else with it in my family. I sometimes wonder if it was chemical exposure when I did some manufacturing jobs to help pay for college in my 20's. Any clue in your case?

10

I honestly don't know. I don't have the typical ancestry or any match to the categories at all and I was just 54 when I was diagnosed. I worked in office type settings and classrooms my entire life. My mother died from myelofibrosis in 1996--it was a terrible death. She had over 200 transfusions in just a few years and she basically wasted away before she died at the age of 69. I asked my oncologist if there was any relation since they are both bone marrow diseases. He said they are not--that it would be like comparing two types of cancers.

It has been a difficult few years. My husband died six years ago--a sudden heart attack at the age of 58 and I became a 50 year old widow. Then, the few years of trying to figure this all out and then the past two years of dealing with it. I am thankful my daughter and son-in-law and granddaughter are only 1/2 mile away from me and wonderful! But, it's a lot to take care of.

I still work full-time, own a little dog grooming business, take care of my house, and look after my 98 year old father-in-law and 88 year old step-father. The fatigue is the hardest part for me. I lived my whole life on 4-5 hours of sleep each night--worked late at night and got up early for work. I just can't do that any more. My doctor does lecture me on getting more rest and relaxation. That was part of the decision for giving up my VP job.

I am grateful that I can still work and have good medical benefits. I have no intention of giving up any time soon:)

11

Certainly. You must live your own life the way you want to and to the best of your abilities. Sounds like your life is not simple. A lot of people our age are in the "squeezed" stage. Squeezed between obligations to children and grand children, and to those of our still living parents. I'm not a grandma yet, but I was thrilled to live to see my son's wedding two years ago. Isn't it great that we have the internet and websites such as this to compare notes on our challenges?

12

Life is never easy but it is pretty wonderful most of the time:) Wait until you have that grandchild! I never thought anything could be as wonderful as my daughter but my granddaughter is simply the best in this world! She was born three weeks early on the day that I was to start my first round of chemo. I postponed until the next day so that I could be in the delivery room to see her birth! At the time, I was just not sure if she would ever know me at all. But, here we are--still going strong!

Please keep me posted on your situation and let me know anytime you remember something about your situation--I am anxious to hear as we move through the days!