Share Your MDS Story

I was diagnosed in October of 2022, a year after I fainted at my son’s soccer game, creating some sideline drama. It was “out of the blue.” Doctors ran all the expected neurological and cardiac tests, but since the results didn't show anything, they wrote it off as an incidental syncopal event. I was unsatisfied with the idea that my body had just failed for no reason so I started to pursue answers. I saw several doctors and they all said the same thing: if it happens again... This was unsatisfying so I continued looking for a more integrative perspective that could provide an answer or at least a path to investigate. It was actually an acupuncturist who noticed my low white blood cell count, providing me with a clue to follow. Finally, a year after the syncopal event, a doctor listened to my plea and referred me to a hematologist.  I think it's important to detail this whole process because that initial diagnosis is crucially important, and I feel lucky that I pushed to catch this early on. After a bone marrow biopsy, it was discovered that I had MDS with excess blasts - the kind that develops into AML. If I hadn't sought out answers for my low white blood cell count, this could have gone unnoticed until it had developed into something more complicated. Initially I had 7% blasts and each BMB later showed an exponential increase. I was also lucky that my hematologist was part of an amazing team at an MDS Center of Excellence. He explained that the only curative treatment would be a bone marrow transplant, but that given my age (51 at the time of diagnosis) and good health (I had been feeling less energetic, but it wasn’t debilitating fatigue. I had previously been an extremely active morning runner and when I started to want to linger in bed instead of pop out of bed at 6am for a morning run, I attributed it to perimenopause. It never occurred to me that it could be something else), the best course of action would be to “watch and wait” until things got worse.  Despite the excess blasts, one of the two mutations I had was SF3B1 which purportedly a "good" prognosis (the other, TET2, is considered “neutral”). Since diagnosis, I informed myself as much as I could: reading scientific research, articles, a book (The First Cell) and attending webinars to wrap my mind around this cancer. During a webinar Q&A I asked an expert about how my SF3B1 would impact my excess blasts. Her response (basically, the SF3B1 advantage was nullified by the excess blasts) was a perfect example of how the unique manifestation of this disease creates gaps in scientific knowledge. It’s impossible to predict anyone’s progression not only because everyone’s biology is different, but the varying mutations and their interactions are many. There is an inherent uncertainty about this disease.

I’ve been trained to tolerate, even invite uncertainty in my training as a psychoanalyst. I’d rather know and face what I don’t know - and what doctors don’t know and can’t know - than to pretend that what I do know is sufficient and complete. Don’t get me wrong - I think there’s a place for denial as a necessary tool to get through life’s challenges, including this one - I’ll get to that in a minute. But I want to be in control of that. I don’t want doctors filtering information for me. Luckily, my doctor understood this early on - and I suspect he even appreciates it.

In early January of 2025, my bloodwork showed enough changes that Dr. T said he wanted to move up the date for my annual bone marrow biopsy. It wasn’t an obvious or extreme change, but he was being pro-active and cautious. Before the results were back I visited my parents, both in their late 80s, just in case I’d be prevented from traveling abroad for a year, as I recovered from a potential BMT. The results showed my blast count was at the threshold - 10%. In 2022 the WHO determined an overlap category between MDS and AML based on blast counts. While AML is the technical diagnosis for anyone with more than 20% blasts, anyone with a count between 10-20% falls in the overlap, essentially meaning I was moving toward AML. Dr. T consulted with the MDS team and they all agreed we should move toward transplant, but there was no hurry.  I was given a choice about whether to wait until later in the year, perhaps after the summer, or go directly into transplant mode. I asked how quickly it would happen if we were to “move directly into transplant mode” and was told it would still take a few months to go through the pre-conditioning outpatient chemo, do all the health screenings for transplant and find a donor. I decided that would be enough time to inform my patients and to process an ending of our work together, providing them with referrals. And it would be the least disruptive to my family, if the transplant happened over the summer instead of during my son’s 10th grade school year. That period of time now feels like a whirlwind. My mind was foggy and I understood what is meant by “chemo-brain” - which I had to acknowledge to my patients, who were all,  in their own ways, caring and reflective about our work together and what I meant to them. 

One of the last screenings was a final bone marrow biopsy in late May, before transplant which was scheduled for early June of 2025. The results still hadn’t been released when I checked into the hospital on June 4th. Dr. T called me in my room before the doctor doing rounds arrived the next morning. He explained that he wanted to give me this news himself. “What news?” I thought, understanding this couldn’t be good. I sat down. He told me the reason the biopsy results had taken so long was that he asked them to run the labs again to confirm the finding of a new mutation. This one, called EVI1, was very aggressive and had not been detected previously. He assured me that everything we had already planned to do was exactly what would be recommended for treating the EVI1-MECOM mutation: myeloablative chemo and bone marrow transplant as soon as possible. The chemotherapy protocol he had chosen for me was newly approved by the FDA, and it had proved to be less toxic, but equally effective as the previous one. I would receive 2 days of 30mg of Fludarabine and 3 more days of 30mg Fludarabine AND 10mg Treosulfan. This would wipe out my blood production, my “blasts” which are the new blood cells in the bone marrow, creating space for the donor’s stem cells to come in and build a whole new blood production system. My month-long hospital stay was, as I think anyone who’s been through a transplant would say, a strange time-warped surreal existence. I had a couple of days that felt like the nadir, so dark and painful that in tears, I expressed doubt to my husband and doctor, about whether this was “worth it.” Dr. T, concerned, offered comfort that my outlook would improve because they would be managing the pain more intensely. My husband, being an expert in compartmentalizing pain and anchoring himself in whatever can be availed as a positive foothold, held my hand silently. 

The pain subsided and I couldn’t wait to return home, to breathe fresh air, to hug my dog. I entered the necessary bubble of denial, forgetting about the EVI1, focusing on the positive signs of my recovering blood counts. There have been two moments when I stepped outside that bubble and asked Dr. T directly about the EVI1. The first time was before my hospital discharge when I told him all the research papers I’d found online pointed to EVI1 as indicating “a dismal prognosis” with “very short overall survival.”  Tears rolled down my cheeks as I spoke with an even voice. In keeping with our relationship of mutual trust - I can trust that he will tell it like it is and he trusts that I will be able to handle it - he looked me straight in the eye and confirmed that it was not good, but that we don’t know how I will react and how the donor’s cells will react. This donor’s cells appear very strong and he produced enough stem cells that if another transplant is required, we are ready for that. There are other things that can be done - we have steps beyond relapse and we’re just not at that final impasse. He put his hand on my shoulder and squeezed as he left the room. 

It’s been six months since transplant. My counts are “good” although they fluctuate a little and I’ve needed monthly IgG infusions (IVIG) that knock me out, my bone marrow biopsy at 80 days and my monthly FISH results have shown my blood is 100% donor and there’s no indication of the EVI1. It wasn’t until I read the article by Tatiana Schlossberg that I was awakened out of my denial bubble again. While she was already at the AML stage, her EVI1 over expression was the “dismal factor” refusing to let her go into full remission - causing her relapse and, ultimately, will be her death sentence. Her mutation is an inversion of chromosome 3, while mine is a translocation between chromosomes 2 and 3. But they produce the same dismal result: the over expression of EVI1, the dismal prognosis. Since reading about her case, I’ve been unable to fully return to my bubble of denial - to keep doing my physical therapy, to focus on the positive each day, playing with my dog, letting him take me for walks in the neighborhood, enjoying the pleasure of taking time to draw and cook for my family. I have, instead, felt the dark cloud of EVI1, looming. There aren’t many people who want to stand here with me, acknowledging the gloom. My friends and my husband and my family, especially my parents, want to focus on the positive outcome; their own bubbles of denial that will get them through the days. So, for now, I feel quite alone in this. But, then, when was it ever any different? We are all mortal and our connections to each other are always temporary. So, I try not to focus on waiting for the other shoe to drop - for the relapse. I try to do as my mom and dad always modeled for me: choose to be happy, put one foot in front of the other, and do things each day: go for the walk, immerse yourself in a book or article or podcast, let yourself draw and be creative. Enjoy the moment, more or less successfully.