For those who like a summary at the top of a long narrative: the appointment on 7-27-23 at Fred Hutchinson Cancer Center (Hutch) did not go the way we imagined, meaning, we don’t have a clear plan for addressing R’s cancer. His situation is more complex than we realized, and the optimal timing for the bone marrow/stem cell transplant (the only treatment that could potentially save his life) is unknown.

Our 2-hour appointment at Hutch was with Dr. Rachel Salit, an attending physician in the blood and bone marrow cancer transplant unit. We went armed with a list of questions, and she answered most of them. However, we left missing the thing we wanted most: a transplant date and a better idea of what the future holds.

​Dr. Salit said something like R’s case is “not run of the mill” or “usual by any means.” Thus, before we arrived, she consulted with 3 other doctors about R to get their take.

While R has some symptoms of Primary Myelofibrosis (PMF), such as a greatly enlarged spleen, unexplained weight loss and reduced energy, he doesn’t have many of the other common symptoms, e.g. night sweats, bone pain, fever, easy bruising or shortness of breath. He also does not have the telltale reduced counts of red blood cells, increased white blood cells, low platelets or scarred bone marrow. “Fibrosis” literally means scarring or thickening of connective tissue. When the bone marrow becomes more and more fibrous, it stops producing healthy blood cells. This is what ultimately causes the collateral damage to the patient’s body. The most common causes of death are infections, bleeding, cardiac failure, post-splenectomy (spleen removal) mortality, and transformation into acute leukemia. Leukemic transformation occurs in approximately 20% of patients with Primary Myelofibrosis within the first 10 years. Source: Medscape

​What R DOES have are 4 major gene mutations (chromosomal abnormalities) that are indicative of a poor prognosis for people with PMF including, JAK2, the clearest and most common marker of the disease. The most impactful mutation is called “ASXL1,” and it’s the real baddie of the four. Research shows that people with this mutation live much shorter lives than those without it.

​If this sounds confusing, it is.

​Missing essential characteristics of the disease = not eligible for the transplant yet

Four baddie gene mutations and a large spleen = eligible for the transplant at any time

​Do you see why this is complex?

​Now what? (1) R will meet another doctor, not one who does transplants, but one specializing in this rare condition. (2) A Fred Hutchinston Cancer Center pathologist will examine R’s bone marrow again. It was first analyzed at Swedish Hospital, but Hutch wants to examine it firsthand. Their own pathologist might see R’s condition differently (e.g., could find scarring in the bone marrow). (3) R will have more blood work done soon to see if anything has changed.

​And R’s siblings should get a kit with a cheek swab to see if one or both would be a good donor match. It’s not a question of “Will he need a transplant?” He WILL need a transplant. The question is WHEN. She also said the transplant can be “catastrophic” or “life-altering.” Scary stuff.

​In the meantime, R and I are going to plan lots of fun stuff to do. Considering a safari! Love and hugs to all of you.