Jan 18, 2022 Latest post:
Feb 28, 2023
As Nicole and I sat talking with my hematologist / oncologist, Dr. Wong, I could tell that he had bad news. The date was September 29th last year – I had been seeing Dr. Wong for several years, since 2018, when a blood test showed that I had a low white blood cell count. The reason that I had the blood test in the first place was because in April 2018 I had just had a second round of pneumonia in just over two years; something that I thought was odd for an otherwise healthy guy. My primary Dr. thought so too and ordered a bunch of tests. The bloodwork put me on a six-month appointment interval with Dr. Wong, where before every appointment I’d get a blood draw. Each time the results would show mild neutropenia (i.e. a low level of neutrophils, the infection-fighting white blood cells). I’d meet with Dr. Wong, he’d say ‘you’re fine’ and for the rest of the apointment we’d talk about our kids, mountain biking, and more recently, COVID. But then he’d always say to see him again in 6 months…..(which left me thinking, if I’m fine, why do I need to keep coming back?….que the scary music).
Fast forward to this summer when I began to feel run down, very fatigued and like I was constantly coming down with a cold. This led to a battery of additional tests to try and figure out what was going on. A bone marrow aspirate and biopsy is the definitive way to answer the question of if my neutropenia was just low because that’s who I am, or whether it was due to something else (like leukemia). Leukemia was something that had always been on the table as a possible explaination for the neutropenia, but Dr. Wong assured me, ‘I’m sure it’s nothing, but if you want to rule that out let’s just do it.’ We’d been talking about a biopsy ever since I started seeing him, so I was comfortable with the idea of just getting it done. And for what it’s worth, when a Dr. says to you, ‘I’m sure it’s nothing,’ that’s when you need to start worrying…
So back to the meeting with Dr. Wong and Nicole, when he walked in he had a somber look on his face and had a stack of papers with him. I knew it wasn’t good. He proceeded to talk us through the results of the bone marrow biopsy, saying that my bone marrow cells showed some odd shapes (dyspoiesis), and that they had an abnormal karyotype. Many of you may remember from high school biology that we each have 23 pairs of chromosomes, half from our mom, half from dad. That’s a normal karyotype. Well, mine is ‘complex’, and I have several mutations. Normal chromosomes each have two arms of a long end and a short end, and all four ends meet in the middle at the centromere. Well, for me, portions of the long and short arms of the 5th chromosome are inverted, the long arm of my 4th chromosome and the long arm of my 9th chromosome switched places, and I had a gain of something called a marker chromosome.
At this point, Dr. Wong had pretty much lost me, but I could tell that he was at the punch line – he said to us that the deletion of the 9th chromosome (i.e. where it moved to the 4th) is a defining feature of myelodysplastic syndrome (MDS). When he said those words it didn’t register with me, myelodysplastic syndrome?? What’s that? Never heard of it.
MDS can be thought of as bone marrow failure. MDS used to be called pre-leukemia, but it’s now considered a form of cancer on its own. Our bone marrow creates our blood cells – red, white and platelets. With MDS your bone marrow begins to fail to produce sufficient numbers or viability of cells. If you don’t have enough red blood cells you’re anemic and you get fatigued easily. If you’re low on white blood cells, neutrophils, you’re more susceptible to infection (aha, that may explain why I got an infection after my knee surgery!). Finally, if you’re low on platelets, you’re more subject to bleeding. MDS is really a range of different conditions that can result in low levels of none, one, or all three of the cell lines. For me, my MDS (so far) is resulting only in neutropenia. And it’s that ongoing neutropenia plus the del9q mutation that define my disease. The average age of someone diagnosed with MDS is 71 years old, which reflects that, over time, many of us will acquire mutations. We don’t really know what causes MDS, but smoking or exposure to benzene are thought to increase risk. Also, MDS can be caused by chemo treatment of a former cancer, the TV personality Robin Roberts is an example of that. Since I’ve never smoked, have not had a chronic chemical exposure and my melanoma didn’t require chemo, I guess I’m just lucky. Especially when you consider that this is my third independent form of cancer – melanoma, basal cell carcinoma and now this (and at such a young age). Oh, and the bone marrow biopsy also suggested that I have what’s called ‘smoldering multiple mylemoa’ – subsequent tests have downgraded that to something called monoclonal gammopathy of undetermined significance (MGUS). That carries a low (1% per year) risk of converting into multiple myeloma. Given the low risk and the fact that MM is treatable, I’m setting that aside for now (that would be cancer #4). But I digress…
Dr. Wong referred me to Stanford, they are identified by the MDS Foundation as a ‘Center of Excellence’ meaning that they are one of the best centers around to treat this condition. I had an appointment with Dr. Peter Greenberg, who literally wrote the book on MDS classification. MDS is classified on a risk level – from very low to very high, and this refers to the risk of MDS turning into acute myeloid leukemia (AML). AML is a rapidly progressing and difficult condition, and is often fatal in a relatively short period of time. Dr. Greenberg informed me that, based on my blood tests and my del9q, I was in the low risk category and that I don’t currently require treatment. I was very relieved to hear this, and felt good after that conversation.
Unfortunately, the story isn’t so simple. To say this is ‘low risk’ is like saying that sitting in a hot oven is low risk compared to the surface of the sun. Low risk, IMO, is a misnomer – and I’ve come to think of it more as an early stage in the disease progression. Because even if I never convert to AML, MDS in and of itself can be fatal due to infection or other complications related to the bone marrow failure.
This is where it gets difficult. Overall survival for someone who has low risk MDS is between 3 to 5 years. But a huge caveat – the numbers are based on patients diagnosed with MDS some time ago, and they do not account for recent improvement in treatments, age, disease specifics and health. The good news is that there is a potential cure in the form of an allogenic (i.e. donor) stem cell transfer (SCT). Because most people diagnosed with MDS are elderly and frail, they’re not eligible for a SCT. But given my relative youth and health, I should be a candidate. Dr. Wong estimated that I could look to start chemo treatment in 3 years or so, with a stem cell transfer in about a decade. Dr. Greenberg wasn’t so generous, and instead he said that I would not require treatment in the near future (which he defined as a year). After that, he said, ‘all bets are off.’