Originally published in iwmf.com
I decided to publicize my experience as a person suffering from Waldenström’s macroglobulinemia (WM) because, regardless of the importance of sharing clinical and therapeutic aspects with other patients, my own has turned out to be one of the (not very rare) cases in which the disease affected two members of the same family. And more to the point, it did so in different shapes and ways. For this reason I can state that my family’s history has in the past been influenced by the manifestation and evolution of this pathology, as it is today and as it will be in the future.
The first time I heard about Jan Gösta Waldenström, the famous Swedish doctor, was in 1990, when my mother was diagnosed with the pathology that bears his name. For quite some time she had been suffering tiredness and weakness, culminating in an episode of loss of consciousness on the job in the school where she was working as a teacher. At that time I was very young, splitting my time mostly between study and sports. Consequently I have only vague memories of episodes of speeding by car to take my mother to school when she was ill, or of the afternoons I observed her reviewing classroom tasks while lying on the bed in order to conserve or to regain strength.
Then, finally, after a series of analyses and a bone marrow biopsy, the diagnosis was determined: “Waldenström’s macroglobulinemia”. At that time there was no Internet, no Google; nothing at all except the university library to find out who Waldenström was, and what the disease was that he had classified, which he still knew too little about and for which the prognosis was definitely inauspicious.
The confirmation of the diagnosis came a month later from an eminent hematologist who, in those early days of responding to WM, reflected caution in embarking on a therapeutic intervention, and as a first course of action recommended a “watch and wait” strategy. For nearly the next thirty years, my mother’s life was punctuated by periodic examinations and analyses (three or four encounters per year), during which time the illness fortunately remained indolent, without generating serious problems or requiring treatments, and permitting her an active lifestyle, full of diverse interests.
So, to summarize, starting in 1990, WM entered my family through the main door, as an unexpected and unpredictable guest, and refuses to leave us in peace. It has become a life partner not just to my mother, but unfortunately, now also to me.
In fact, beginning in 2004, I became a co-star in this story. Actually, all my life has been marked by health problems – problems that, in hindsight, I believe were precursors to the more serious illness that manifested itself at the age of 40. The first problem began in 1989, when I was 24. It developed within the framework of a life dedicated to dance – my great passion – for which I made many sacrifices in order to accommodate the countless hours of study and hard physical training required to achieve the dream of “living on the tips.” Alas, this dream collapsed when an excessive tiredness and weight-loss that could not be explained by the leanness typical of all dancers convinced me to undergo a series of tests that revealed an autoimmune thyroid condition and, in 1989, led to the diagnosis of Basedow’s (or Graves’) disease. So, I gave up the dance and underwent two years of intense treatments, the end of which inaugurated a second phase of my life, as active as the first one, in which I graduated, specialized, moved to another city, found a satisfying job, travelled a lot, and got married. It all seemed good . . . but then, in 2002, my daughter was born in a caesarean urgency required by a rare complication which soon would threaten both of our lives.
I will explain. Not infrequently throughout my life, my body would send me signals that something was not working properly. With the passage of time, these symptoms usually would resolve, and I would resume an essentially normal life. However, in 2004 I began to notice a strange overwhelming sense of fatigue that I felt was different from the chronic tiredness that I had become used to. And the more the months passed, the more the fatigue increased. I experienced frequent sudden slumps and feelings of consciousness-loss, both at work and at home, as well as general illness, tachycardia episodes, erythematosus rushes, recurring mouth ulcers, and tingling and numbness of the extremities. Emergency room visits became more and more frequent, but tests always revealed only a slight anemia. Attending physicians characterized it as a form of “severe depletion”. The situation, however, continued to worsen, and in 2006, when I found myself unable to stand upright, led to hospitalization.
2006 was the watershed year that began my life as explicitly suffering macroglobulinemia. After two hospitalizations, accurate analysis revealed the presence of a lambda monoclonal IgM component. A subsequent bone marrow biopsy led to a confirmed Waldenström’s macroglobulinemia diagnosis. With IgM at 2,050 mg/dL and no organ involvement, I was consigned to an indefinite period of watch and wait, with no indication that active treatment would be necessary at that time. The diagnosis didn’t frighten me – why would I have to worry about it? After all… I had a mother suffering from the same illness doing well and quietly conducting her life!
But macroglobulinemia has so many faces and ways to hit you. My clinical case at first looked just like my mother’s. But then the disease manifested itself in an aggressive form, and all my attempts to continue my then-usual lifestyle slowly failed: severe fatigue got worse; in 2008 my IgM level grew inexorably to 4,000 mg/dL; I was unable to sustain concentration; my blood viscosity climbed; and I could hardly go to work.
Early in 2009, despite the absence of enlarged organs and enlarged lymph nodes, I underwent chemotherapy at the University Hospital of Pisa, the city where I currently reside. The therapy I followed included four cycles of bortezomib (Velcade) plus rituximab (suspended after two cycles for intolerance and violent late reactions) followed by four cycles of only bortezomib weekly. At the conclusion of therapy a modest bone marrow infiltration and a measurable monoclonal component still remained, but no immediate further treatment was recommended.
During four years of observation, my IgM levels slowly but steadily increased, forcing me to submit to a new round of therapy in 2014. I underwent six bendamustine cycles that greatly reduced the level of IgM and bone marrow infiltration, giving me the hope of having a longer interval before facing new treatments. Being subjected to therapy has made me aware of the fragility of my health situation, and led me to evaluate the need to change certain aspects of my life. I took a sabbatical from working to think things over, during which time I determined I would change my occupation. At the moment, in fact, I work in a public service position. My office is just a few minutes away from home, and working time has been drastically reduced. At the same time, I have reshaped my passion for sport: from hard training I have gradually shifted to light gymnastics, and at present am content with long walks two or three times a week.
In photos I am attaching to this story, you will see me on a recent excursion in Abruzzo in which I challenged myself to climb to the 2,400 meter summit of the “Rifugio Franchetti” at Gran Sasso. I considered this a challenge to myself – which I won – but because of the great effort required to achieve this goal, I am now persuaded of the necessity to adapt to the rhythms imposed by the disease. My life is, however, still very active and full of diverse interests, which I am committed to sustaining. For this reason, I have actively and enthusiastically participated since its foundation in the initiatives of the Waldenström Italia Patient Group (Waldenstrom Italy) and in the meetings organized at the Niguarda Hospital in Milan. I consider these activities a priority for keeping me updated on the therapeutic and research innovations relating to WM, as well as a means to better follow my mother’s progressions regarding the disease. At the suggestion of the hematologists taking care of me, I was subjected to analysis for the L265P mutation in the MYD88 gene, which turned out to be positive. Recently my mother has also had this analysis done, with identical results. She and I often discuss the possible causes that may have led to these genetic changes in both of us. We analyze our lives to identify common points of contact and experiences, and have even worked out our personal hypotheses. But mostly we look to the scientific research to provide us with future responses, while offering our availability and collaboration wherever that might be helpful.
At present, three years since the conclusion of my last therapy sessions, my situation is stationary: my IgM level is more or less stable – fluctuating between 800 and 900 mg/dL – and I still have some symptoms, including a chronic though moderate asthenia. As for my mother, the disease began to progress again in 2016, causing a decline in her overall clinical picture and a worsening anemia. Currently she is being treated only with an erythropoietin-based therapy to promote formation of red blood cells by the bone marrow. I do not know what the future will hold for both of us, but the indisputable fact is that I try to convey to my mother confidence in the therapies thanks to which, eleven years following the diagnosis, enable me to lead a “normal” life. And from her side, she is able to infuse in me the precious hope, as a living example, that the illness may remain dormant many years more.
NOTE: Daniela’s Story in Italian can be found at www.malattiedelsangue.org/gruppo-pazienti-waldenstrom