This story in Italian can be found here(link is external).
I waited for months before I made the decision to write this simple page about my story. I don’t know what the exact reason for my hesitation was, but I believe I was not ready or not completely convinced that I wanted to do it. Now that I have opened this Word document and completed the first lines, everything looks easier to me.
|This is me, in a picture from my last summer vacation. My name is Luigi and I just turned 61. I live in a small city near Milan with my wife Laura (a secondary school teacher) and our two sons: Matteo, 27 years old (process consultant in a multinational corporation), and Stefano, 24 years old (about to graduate from a course in policies for international development cooperation). A few months ago, I decided to quit my job (database and information systems manager in a company that produces and sells hardware and software all over the world). Before I become fully retired, I will have to wait a couple of years more. But our family decided unanimously that I would quit an activity that I liked and gave me satisfaction, because sometimes something happens that compels you to reconsider your priorities and the value of your work-life balance. That “something” is what this story is about.|
My story began on a Sunday afternoon in June 2011. During that time period, I was working hard; traveling a lot for my job; traveling for pleasure with my family; was passionate about running and had gained my first recognitions as an amateur; hiked regularly in the mountains; and did many other activities. I never stopped. On this particular Sunday, however, when I was on my way home after my first mountain run (from Cortina to Dobbiaco, 30 kilometers covered in three hours), my brother-in-law, who is a doctor, called me to share with me the results of my blood tests. He told me that further investigations were required. I went to the hematology section of Milan’s Policlinico Hospital, where, in a few months, all required analyses were performed. It soon became clear that I was experiencing an elevated monoclonal IgM level (2 g/dL in August 2011). I was reassured when my doctor explained that the MGUS (monoclonal gammopathy of undetermined significance) I had been diagnosed with can remain dormant for decades. With no urgency, further exams were carried out. But, in November 2011, after undergoing a bone marrow aspiration and biopsy, I was diagnosed with Waldenström’s macroglobulinemia, a rare non-Hodgkin lymphoma. I am not ashamed to say that, at that time, I would not have been able to describe what a lymphoma is (let alone what WM was!). I would have said, incorrectly, that it is a particular form of leukemia.
My family and I immediately began to seek information on this rare disease, worrying at the time that our whole world might be falling apart. We had experienced the same fear at the end of 2008, when I was 52. At the beginning of October, I started having abdominal pain. After some medical tests, it turned out to be a pleural effusion due to a bronchial pneumonia that had not been diagnosed because it came with neither cough nor fever. After treatment, when I got out of the hospital, I decided finally to kick the hated cigarette habit that had been with me for thirty years. Despite taking antibiotics, I didn’t feel I was getting any better. And after a week I began to have episodes of really intense pain around the shoulders that lasted for ten minutes. I went back to the hospital, and a CT revealed that I had a bilateral pulmonary thromboembolism. I was hospitalized in the pulmonology department, and in a month it looked as if I was healed, but the tests showed that my lungs continued to be inflamed (visualized as “absorbing areas” in PET results). Doctors said that, given that I was relatively young, and that there were serious risks from this condition, a diagnostic thoracoscopy should be carried out. The procedure was done on Christmas Eve. We waited anxiously for the results of histological tests, and, at the end of January, the lab findings came back negative. We celebrated the good news, relieved that no indications of cancer had been found.
Returning now to 2011, our research quickly informed us that Waldenström’s macroglobulinemia is a blood cancer that is treatable but not curable, and patients can stay asymptomatic even for long periods. Alas, that was not my experience — the disease progressed rapidly, requiring that I have check-ups every three months. By December 2012, my IgM had grown to 4,000 mg/dL, and the monoclonal peak was slightly under 3 g/dL. Despite these blood changes, I felt good, continued to work, and kept on traveling, running and going hiking in the mountains. Eventually, I experienced severe night sweats on two occasions, and nose bleeding episodes began happening more frequently. As a result, in 2013 my cardiologist stopped the daily aspirin, which reduced the nose bleeding. Nevertheless, my blood test results worsened. In November 2013 I had a hemolytic crisis — hemoglobin fell to 8.3 g/dL — though I didn’t notice any particular symptoms characteristic of low hemoglobin. IgM rose above 5,000 mg/dL, monoclonal peak rose above 3 g/dL, and the hematocrit level registered below 25%. Doctors at Policlinico Hospital decided to begin a treatment regimen which included high dosages of cortisone, which, by January 2014, led to my hemoglobin rising to 12 g/dL. I was informed by my physicians, however, that notwithstanding my improved hemoglobin level and being basically asymptomatic, shortly, the team would need to decide which therapy should be adopted to tackle the Waldenström’s.
I decided to be treated at the Hematology ward of Niguarda Hospital, rather than Policlinico, for three main reasons: Niguarda is a center of excellence for Waldenström’s macroglobulinemia treatments; it is closer to my home; and I had the first consultations there with Doctor Enrica Morra, whose competence and professionalism I greatly respected. I continued to have periodic blood tests to evaluate the progress of the disease. Hemoglobin was checked weekly and stabilized between 11 and 12 g/dL. Hematocrit remained steady around 35%. I quit running, but I kept up all other activities without problems. On May 25, 2014, I woke up and began seeing everything doubled. It took me some minutes to realize that something was seriously wrong with my vision. If I opened one eye at a time I saw everything perfectly. If I opened both, it was a nightmare. For example, I would see two doors, and wouldn’t know which one to walk through. It was Sunday, and my wife took me to Niguarda Hospital first aid, where they decided to hospitalize me in the neurology ward, since I appeared to have diplopia.
I underwent CT and MRI scans (brain and spinal cord), but doctors could not find the cause for the diplopia. As they began to have doubts as to the root cause of the diplopia, the doctors decided I needed an intrathecal procedure to analyze the cerebrospinal fluid. I was moved to Hematology, and had the intrathecal procedure. After a thorough analysis, I was diagnosed as having Bing-Neel Syndrome, which affects nerve 6. Effectively, the Waldenström cells not only had invaded the peripheral system, but they attacked also the central nervous system. There are few documented cases in the world of a never-before treated patient under 65 with this pathology. It seems not to be my style to live within such statistical norms!
Doctors who have been following me since the beginning — in particular Doctors Alessandra Tedeschi, Anna Maria Frustaci and Paola Picardi — explained to me the situation and the therapy that I should undergo. Before starting the treatment, they waited for confirmation from European and American colleagues who have treated similar cases. The therapy they recommended foresaw four chemotherapy cycles consisting of an R-DHAP combination (rituximab, dexamethasone, cytarabine, cisplatin), and intrathecal chemotherapy injections.
The unusual pathology, the diplopia and the sudden hospitalization, together with the weight of the therapy that I was about to undergo made us all fall into a state of worrying and disguised fears. The first one to react was my wife, Laura – in order to be able to take care of me, she promptly asked for and obtained a temporary leave from her job, while we waited for the anticipated improvements. After a week I convinced myself that I have to fight, that I must and can make it, if not for myself, then at least for my family. The therapy began – a cycle every three weeks, each accompanied by two intrathecal chemotherapy injections (day 1 and day 5); infusion of two chemotherapeutics (cisplatin and cytarabine — old generation, but effective drugs — day 1 and day 2); infusion of immunotherapeutic (rituximab, day 3); and a resting day (day 4).
During the second week, all indicators fell to the minimum (aplasia), while during the third week bone marrow activities resumed. Chemo made me lose my appetite. Intrathecal chemotherapy injections were accompanied by bothersome headaches, along with sensations of internal pulsations to big bones that were really annoying. Every cycle felt like I was getting a thrashing worse than the one before it; nausea increased; I ate very little; I lost my strength, occasionally requiring plasma infusions; and platelets were at the minimum level. On the other hand, tests of cerebrospinal fluid got constantly better, and the effects of the diplopia began to diminish.
Throughout, my wife stood constantly by my side like my guardian angel, while my sons cuddled me as if I was their child. Doctors on my ward, in particular Doctor Marco Montillo and Doctor Chiara Rusconi, and all the other nurses and caregivers, did not abandon me even for a second.
On August 16, after three cycles in place of the four originally planned, I was released from the ward, given that my cerebrospinal fluid finally was clear! I had lost 15 kilograms, and I struggled to negotiate the three steps I needed to climb to reach the elevator. Only a few months before, I was able to run for three hours. But I was finally home, the first key step taken. For the moment, at least, Bing-Neel Syndrome was defeated, and in mid-September the diplopia was completely gone, a result that was even better than what we expected.
After 15 days, on August, 31, I began the therapy to treat the Waldenström’s effects. I was given seven bortezomib (Velcade) cycles and more intrathecal chemotherapy injections, attending day-hospital two days a week from September 2014 to February 2015. Slowly, I gained weight, headaches got less frequent, and test results got better. I saw the light at the end of the tunnel. In November 2014 I got back to work, part time, three days a week. I worked remotely from home to avoid contacts and reduce the risk for viruses and infections.
Then, in December 2014, I started experiencing peripheral neuropathy related to Velcade. I felt like my feet were wooden, and the treatments were temporarily suspended. With ups and downs, I completed the treatments at the end of February, achieving a partial recovery from the WM. Bone marrow infiltration measured only 10%, compared to 60% a few months before. IgM measured 600 mg/dL, and monoclonal peak dropped to 0.6 g/dL. Hemoglobin held steadily above 14 g/dL, and hematocrit stabilized above 40%. My doctors were satisfied, and I was even more satisfied!
Treatment was over, with the next appointment set for July 2015, in order to harvest stem cells to be saved for future needs. Cyclophosphamide infusions, meant to mobilize stem cell production, provoked side effects (high fever and hair loss), but I contended with these side effects with an optimistic spirit.
Successfully concluding this challenging series of treatments opened a new phase of my life. I once again could spend my vacations at the seaside, sunbathing, swimming and riding my bike. I got back to work full time, but I didn’t feel like continuing to travel and fly all over the world. Understandably, I was uncomfortable being too far away from Niguarda Hospital. Instead, I began working remotely, using audio and video conferences to communicate with colleagues located all over the world. I got back to doing things that I did before the treatments, but it wasn’t exactly the same. The disease and the treatments left marks: hearing has worsened; I experienced tinnitus, which is bothersome and cannot be remediated; eyesight became worse than before; and my cardiological profile worsened.
During the period when I had paresthesia and unresponsiveness in lower extremities, I suffered an arch of the foot failure, with a painful metatarsalgia due to overload. I couldn’t bear to stand up for more than five minutes without feeling pins and needles on my plantar arch. Today, thanks to special foot orthotics, I can walk for up to thirty minutes before I have to sit and unload body weight from my feet. Luckily, I have no problems when swimming, and very few when cycling. Bottom line, I had to renounce running and hiking in the mountains, which I found acceptable in the end. When I had the last check in December 2016, my clinical profile remained stable and similar to the previous six-month period. The next follow-up will be in six months. This is particularly important, because with such a long interval one can reduce the moments of anxiety related to the wait for blood test results. Fear of what may happen to me in the future cannot be entirely eliminated, and even small things when found out can be sources of worry. For these reasons, I keep myself up to date about what is going on with Waldenström’s, though I don’t aspire to analyze in depth medical matters, risking not to understand them correctly. That subject matter is more appropriately the concern of researchers and practicing doctors.
I am participating since its inception in the Italy Waldenström’s Patients Group. I try to support Niguarda Hospital activities by helping to collect plastic caps and other fundraising activities. I am aware that major innovations, like the new ibrutinib drug, are only a small portion of what would be necessary to properly address rare diseases such as WM. I am hopeful that further progress will continue to be made in scientific and clinical research, with discoveries of new drugs and innovative treatment protocols based on reduced chemo usage, the better to deal with Waldenström’s macroglobulinemia and even more so for Bing-Neel Syndrome.
At a more personal level, there are some aspects about my disease that I find particularly worrying and that make me very anxious. For example, what is the familial risk for this disease? Which treatments will I undergo if I need to be treated again? How long will this period of (partial) recovery last? What is going on in my bone marrow? Unfortunately, for all those questions there are neither answers nor reliable statistics. The only thing that I can do is to use the time that I have left in my life — be it long or short — in the best way I know how, surrounded by my loved ones, in particular by my family. For this reason, I reached the decision to quit my job in advance of when I had originally been planning to.
Which brings me, finally, to introduce you to my family, through one of my most beloved pictures, taken in 2010, when we celebrated my 25th wedding anniversary in our small lodge in the mountains (from the left: Luigi, Laura, Stefano, Matteo).
A big hug to everyone,
[email protected](link sends e-mail)
Cusano Milanino (Milan), Italy
For those who are interested in more information about my case, all the clinical details are available in the Case Report written by Doctor Anna Maria Frustaci and all the other doctors who have accompanied me on my medical journey at Niguarda Hospital.