Thank Goodness for Multiple Opinions
My name is Marion Farina. For most of my life I’ve taken good care of myself, eating well and getting a lot of exercise. I considered myself to be a healthy woman, except for having osteoporosis.
In August of 2009 at the age of 62, I went for a follow-up visit to my osteoporosis specialist at St. Barnabus Ambulatory Care in Livingston, NJ. She ordered a routine blood test and the results showed a low albumen (protein) level. I’ve had a low protein level before on an annual blood test ordered by my primary doctor, but since he didn’t make anything of it, I wasn’t concerned. However, the specialist felt it needed to be pursued further. She ordered a 24 hour urine test and the results came back showing a very high level of something called free lambda light chains and creatinine (kidney) function. She told me I needed to see a hematologist right away to pursue the results of the test. I thought she was making a mountain out of a mole-hill, however I did go to see a local hematologist who conducted more blood tests plus a bone marrow biopsy. I asked him what he was looking for and he said multiple myeloma, so I think he only tested for that particular blood cancer. However, since the abnormality was below the range for cancer, his diagnosis was MGUS (Monoclonal Gammopathy of Undetermined Significance.) He said there was no treatment necessary at that time, and it should just be regularly watched. He said I might very well live a long life and possibly never have to undergo any treatment. That’s what I wanted to hear, so I wasn’t going to pursue it any further, except my husband Tony called his cousin, an oncology nurse, and she strongly urged me to get another opinion.
So, although I thought it unnecessary, I went to get a second opinion with an oncologist she recommended who specialized in multiple myeloma. Dr. David Siegel at John Theurer Cancer Center at Hackensack Medical Center in Hackensack, NJ, said that he was not worried about MGUS or multiple myeloma with me, but rather something called amyloidosis. (“What a strange name for a disease” I thought.) He said his clue was the high protein count in my urine which made him suspect something was causing my kidney filter to leak. He was familiar with the disease, as a percentage of his multiple myeloma patients also had amyloidosis. He explained that amyloidosis could lead to the breakdown of any or all of my major organs if untreated. That got my attention!
Dr. Siegel said I needed to have a kidney biopsy performed to confirm his suspicion. I did have the biopsy and it turned out he was correct. It was determined that I did indeed have amyloid deposits on my kidney and my kidney filter was leaking as a result. The leaking manifested as bubbles in my urine, which I had noticed for some time, but to which I had paid little attention. I had thought it was just something that happened as one aged.
There were no other obvious symptoms, except for an unexplained purple blotch on my eye lid. I had pointed the blotch out to my primary doctor in the past, but he didn’t know what caused it but said not to worry about it. I’ve since learned that discoloration and bleeding into the skin around the eyes can also be a sign of amyloidosis. Needless to say shortly after I was properly diagnosed I found myself a new primary care doctor.
Now armed with the correct diagnosis, my supportive husband Tony started researching the disease online and discovered the Amyloidosis Foundation. Through the foundation he found one of the foremost experts on amyloidosis in the northeast, Dr. Ray Comenzo of Tufts Medical Center in Boston. Tony and I immediately went to Boston and Dr. Comenzo confirmed a Primary AL Amyloidosis diagnosis. He said that since my organs had not been seriously compromised and if I opted to have a stem cell transplant (which he said was the first line of defense) I had a very good chance of going into remission. He explained that he had developed the treatment protocol for Amyloidosis at Memorial Sloan Kettering Cancer Center (MSKCC) in New York City, (not far from my home in N.J.) He said I would be in good hands with Dr. Heather Landau at Memorial. I connected with Dr. Landau and scheduled a Stem Cell Transplant for April 9, 2010, (which I now consider my re-birth date.)
A week before my scheduled transplant I had my own (autologous) stem cells collected (as an out-patient). I was admitted a week later to Memorial as an in-patient for what I expected to be around two to three weeks. I was given a high dose of Melphalan chemotherapy to shut down my immune system so that my bone marrow would stop producing the malformed proteins (amyloid). One week later, my new stem cells were re-introduced into my blood stream. For a week I felt normal and thought “this is going to be a piece of cake”, but no such luck. After that first week, I had a prolonged unusual reaction to my own stem cells. It took me considerably longer than most amyloidosis patients – 10 weeks in and out of the hospital to get over the side effects (high fever, full body rash, very low blood pressure, two visits to ICU). In August of 2010 I was told that I was in remission. No sign of amyloid and all of my vitals were back in range. Quite a roller coaster ride, but it was all worth it!
This past April 9, 2016 was six years since my stem cell transplant. My kidneys have healed (no more bubbles), I’m still in remission and all of my vitals continue to be right in range. Thank goodness I got multiple opinions that led to the correct diagnosis! I am so lucky.
Although great strides have been made with research and treatment, amyloidosis is still considered to be incurable. My blood and urine are checked regularly to make sure nothing has changed. I am not on any medication. I feel better than ever and continue to live a normal life.
I wrote a small book detailing the day-to-day experiences of my journey. I hand a copy to every new doctor I see with the hope that it will remind them to routinely test for amyloidosis. To look beyond the symptoms to the cause, as it can mimic many other diseases. I suspect that it’s probably not as rare as the medical world thinks. I know from my own experience, that early detection is the key to the best possible outcome.
Update: July, 2019
I travel to Emory Winship Cancer Institute in Atlanta every six months for testing and I am still in remission. This past April I celebrated my ninth year in remission!