Monday, May 23, 2016

Diagnosis: Myelofibrosis

From my initial hospitalization and bone marrow biopsy it took about a week before my oncologist was ready to give me her diagnosis.  She needed to have certain pieces of the puzzle in place before she even suggested what she must have expected on the day she did the bone marrow biopsy and had a dry tap.

With my wife by my side, I sat in the examining room as the doctor talked. I am sure she chose her words very carefully, but in all honesty I don't remember her speech very well.  I was trying to take notes and I didn't recognize all of the words she was using.  Besides that, the things she was communicating propelled my mind in many directions... I had trouble concentrating on her message.

I remember this:
Doctor T: "The results from your blood tests and bone marrow biopsy show that you have a disease called myelofibrosis."
Me: "How do you spell that? I've never heard of it. What is it? Is it related to Multiple Myeloma?"

The rest is a hodgepodge: "Very Rare - only two in 100,000." "Bone Marrow." "Mutation." "Chronic." "Progressive." "Fatal." "Incurable." "No treatment." "AML." "Lots of research." "Bone marrow transplant." "Specialist." "Median Survival is 7.9 years."

My head was spinning and I couldn't take it all in at once.

My bone marrow biopsy (BMB) showed moderately high levels of fibrosis - scarring that is produced when the mutant cells caused over production.  My spleen was massive and she explained that was more of a symptom than a cause of my problem. My spleen was working hard to cope with the overproduction on White Blood Cells and might also be working to produce some blood of its own.

I had tested negative for the BCR-ABL1 mutation that marked the CML she had initially guessed about, but I tested positive for the JAK2v617f mutation that about 50% of myelofibrosis patients have. My mutation was associated with a proliferation of one or more blood lines (whites, reds or platelets) and the proliferation eventually leads to the fibrosis and the failure of the bone marrow so that it cannot produce sufficient blood.

Dr. T had about three myelofibrosis patients and she recommended that I see an MPN specialist at the Cleveland Clinic. There I met Dr. G and he gave me an even more compete picture of what I was facing.

Myelofibrosis can be relatively slow moving for years or it can progress very quickly.  If it progresses it might transition to AML (acute myeloid leukemia) which is lethal.  Even without transitioning to AML the myelofibrosis can kill the patient by causing severe anemia that causes organ failure or by leading to a thrombotic event like a stroke or heart attack or by causing the failure of the immune system so that the patient dies of some infection like pneumonia. And if that is not enough, the large spleen can rupture or can result in "portal vein hypertension" that can cause bleeding in varices in the esophagus or the liver.

Suffice to say myelofibrosis is a dangerous and even deadly disease.

So, why not just have your spleen removed? Well, that is a very dangerous operation in its own right and you can die in the attempt. Besides that, for most of us our spleen is helping more than it is hurting. It is not the cause of the disease - but is trying to cope with the effects of the disease.

Well, why not go ahead and have a stem cell transplant right away?  That sounds more simple than it really is. While the disease is dangerous, it is not necessarily an immediate threat to life. People with newly diagnosed myelofibrosis that is at a low risk level might live with it for twenty years or more. But an SCT is immediately life threatening. There is a very real danger of dying from the SCT process itself and the heavy doses of chemotherapy that are required. There is a further danger that the donor cells might not implant after the transplant - in which case there is a high probability of death. Beyond that, even if the initial transplant is successful, the patient is so weakened by the process that they are vulnerable to disease and infection for several years and might die of some childhood illness before they are well enough to receive the inoculations again. Even if a person makes it through the SCT and safely out the other side they will have some degree of graft versus host (GVHD) disease to contend with for the rest of their life. Besides that, it is possible that after a few years the MF can come back.

I came to realize that the MPN doctors see SCT as a life saving procedure, but not as a life improving procedure. If a patient's situation is dire and they are not expected to live more than two or three years, it is worth trying an SCT. But if a person is in fairly good health and shows only low or moderate risk factors, then they are better off waiting to see what new medicines and procedures will be available in the coming years.

Fortunately for me, I fell in the "intermediate 1" risk category. There are various prognostic scales and they can cause confusion. The IPSS is older and is based on survival after a person's initial diagnosis. This is what we looked at when I was first diagnosed and it gave a "median survival" of 7.9 years. Some time later, I was evaluated with the DIPSS+ and given a median survival of 14.2 years.

On the one hand the 14.2 years made me feel much better. On the other hand, I found that these numbers don't really mean much to any given individual. You have a "life limiting disease" and it is very hard to say how you as an individual will do.

The clock is ticking.

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