What started out as a pretty good day with fat ankles and a coffee date with my dad was becoming a complete nightmare. Chemotherapy? A stem cell transplant?! My mind was racing and I was having a hard time concentrating on the information that my doctor was so patiently, but truthfully, trying to relay to me. Thank goodness my dad was there to be an extra set of ears. My doctor explained that amyloidosis was a rare and life-threatening disease, striking only 8 in a million people. However, it manifests differently in every patient, so very often the disease goes undetected or misdiagnosed, which means these numbers may not factor into that figure. The cause of amyloidosis is unknown, but doctors do know that the disease begins in the bone marrow. In addition to producing red cells, white cells, and platelets, the bone marrow makes plasma cells, which are antibodies that protect against infection and disease. Normally, the body can break down and metabolize these plasma cells, like any other cell in the body. Amyloidosis occurs when plasma cells "fold" incorrectly and are unable to be broken down. These antibodies build up in the bloodstream and deposit themselves in the organ tissues as amyloid deposits, or fibrils, and interfere with normal organ function. The disease is progressive and can affect any organ in the body, and without proper treatment, the prognosis is only 12-15 months. The lethalness of the disease is attributed to the nature in which it attacks the major organs, and, perhaps more importantly, the high rate at which it is misdiagnosed by doctors who are not aware of the disease. Most doctors concentrate on the organ being damaged, without ever considering that the problem is with the bone marrow and build up of protein fibrils in the blood, not the organ itself. The only way amyloid can be detected in the lab is for the pathologist to use a stain called "Congo Red" on the tissue sample. Fortunately, my doctor knew to request this special stain for my kidney biopsy. Usually by the time a patient is transferred to a skilled specialist who can make an accurate diagnosis, the damage to the affected organs has often progressed to a level which is difficult to treat. The majority of people who get amyloidosis are older than 40 and male, making my case even more unusual.
I could not believe what I was hearing. I was in tears and my mind was racing...I had a four year old son who was the center of my world...how would I take care of him? Would I survive this? Had I caught this early or late? Would I see him start kindergarten? What the hell was happening?!
My doctor explained that the most effective treatment would be to undergo high-dose chemotherapy and an autologous stem cell transplant at Boston Medical Center. That means I would produce my own stem cells and not need an outside donor. The Amyloid Treatment and Research Program at Boston Medical Center is one of the leading facilities in the country, treating patients and educating medical professionals from all over the world.
I finally had the answers I was looking for (as well as a new prescription for Xanax) as to what was causing the swelling in my legs. But there were endless new questions: when would the treatment start? What would it entail? Was this a hereditary disease that could have been passed down to Jason? Would the treatment work? How would it change me? Would I ever be healthy again? My mind kept going back to my son. What do I tell him? *When* do I tell him? And *how* would I explain this in a way that would not frighten him? Steve and I decided to wait until we had all the information and understood all the details of what the treatment would entail before we involved Jason.