The Trouble with Diagnosing a Rare Disease

Amyloid light-chain (AL) amyloidosis is the most common form of amyloidosis, a group of disorders in which an abnormal protein called amyloid builds up in tissues and organs. The disease is caused when a person’s antibody-producing cells do not function properly and produce abnormal protein fibers made of components of antibodies called light chains. These light chains come together to form amyloid deposits in different organs which can cause serious damage to these organs. Abnormal light chains in blood and urine are sometimes referred to as “Bence Jones protein”.

AL amyloidosis impacts different organs and many of its symptoms are also common to other diseases. Many patients, like Isabelle Lousada, spent several months—her health deteriorating– going from one doctor to another—trying to get a proper diagnosis. She was in her early thirties at the time. Doctors diagnosed her with Chronic Fatigue Syndrome. It wasn’t until months later that she was finally diagnosed with AL amyloidosis. Isabelle, now 52, joins us, to share her story. We also hear from an amyloidosis expert – Dr. Raymond Comenzo, Director, Blood Bank and Stem Cell Processing Laboratory and Director, John C. Davis Myeloma and Amyloid Program at Tufts Medical Center. Tune-in, to learn who gets this disease. What are the symptoms that mimic so many other illnesses.