Adel Foz

July 29, 2012

Even though I live in Boston, one of the medical centers of the world, it took almost a whole year to diagnose my case of light chain amyloidosis in 2007. My stamina was eroding a few months after I turned 65. I was losing about 3-4 lbs per month, muscles ached, my taste buds and sense of smell were gone, I would have sudden coughing fits, and break into sweats and chills without cause. I started getting light-headed when I sat up or went up the stairs. I blamed all this on the statins I'd been taking to control cholesterol. The problems continued when I stopped taking them. I was given Fludrocortisone to improve my blood pressure and sent to specialists for each of my other complaints, with no particular findings: (urologist for ED in January, Ear/Nose/Throat and MRI in February, endocrinologist in April, radioactive tracer heart test (negative) in May, and so on). Despite being aware of multiple symptoms, specialists rarely look beyond their specialties and so my condition remained a mystery.

By September, I was feeling more and more rundown. My family and I used the Web to figure out that amyloidosis was a possibility connecting all the disparate symptoms. My wife called this in to my primary care physician and his otherwise exemplary secretary told her to leave the diagnosis to the doctor. This prompted me to offer him a picture of my very foamy urine. It made him order a 24 hr proteinuria test whose results (over 7g/l) got me to a nephrologist at Brigham and Women's Hospital and a kidney biopsy in October. The pathologist used several tests to demonstrate and confirm amyloidosis. Next stop was a hematologist at the Dana Farber Cancer Institute in November. He ordered a bone marrow biopsy which confirmed plasma cell dyscrasia. Despite my slight peripheral neuropathy, he offered to start Velcade - which usually worsens it. He also suggested talking to Boston University Medical Center (BMC) if I was interested in a stem cell transplant.

Instead, my wife and I opted for a second opinion from a hematologist at Mass General Hospital. By then, I was getting lightheaded walking more than a quarter mile on level ground unless I did it very slowly. He recommended drugs to control the amyloidosis before going to a stem cell transplant. Since he'd boasted of talking weekly to the Mayo Clinic, I asked him to check with them since by then I knew that they treated amyloidosis. A week later, he called back to say that they felt my dyscrasia was low enough to go directly to the stem cell transplant. BMC administered more tests which confirmed the diagnosis and added gastro-intestinal involvement to the list of affected organs. After more cardiovascular and pulmonary testing, I was cleared for a Stem Cell Transplant (SCT) in February.

The BMC staff are excellent and very experienced. The stem cell collection and transplant and recovery went smoothly without pain or complications, on an outpatient basis. After the transplant on Feb 29, 2008, the only "incidents" were passing out twice going up the three steps to our porch. The second time my wife insisted I go to the hospital and I spent one weekend there, finally getting fluids and a platelet transfusion which revived me. I was discharged from BMC March 20, 2008. But I was very weak and got tired quickly; an hour +/- of walking or doing anything or riding in a car was my limit for another 9 months.

Since then, recovery has been slow and steady. The pedometer I'd gotten to track my walks gives an idea of how slow that was. In April 2008, I averaged about 0.15 miles/day in total. A year later, I could manage up to 1.5; it's now over 2.5/day after a surge in early December 2009 when the doctors noted that my heart had recovered muscle tone. Kidneys have improved slightly and stabilized at a low, but acceptable level. The peripheral neuropathy continues to ebb very slowly, but my taste buds haven't come back. My temperature control system improved this summer. So, overall I am recovering from the amyloidosis. Now, I can be active between 4 hrs in a row, but need a short rest before going back to whatever I was doing.

For the fourth year in a row, the annual checkup has shown me to be free of amyloid formation. In short, I feel very lucky that I was still in good enough shape to have the stem cell transplant and that it has worked as well as it has. Given my experience, I want to emphasize how very important it is to consult and be treated at one of the Centers of Excellence for this disease: Boston University Medical Center and the Mayo Clinic. Don't wait. The disease can accelerate very quickly.