Life Sentences: A Story of Discovery and Recovery (Chapter Twenty-Three)
Chapter Twenty-Three - Death and Decisions
Mary died on March 17, 2019. Mary had sustained another infection in her lungs. Her body could not fight anymore. It was a choice, hers and Tayla’s, to end life-sustaining intervention. And then life ended. Since the prior summer on Block Island, I had only seen Mary once, at her new home, Tayla’s home, after she had suffered one more head injury requiring another brain surgery and another lengthy recovery. In that injury’s wake, she became more wary of the steps necessary for rehabilitation, unconvinced of their equation to progress, believing that the literal steps would set her back. She was terrified to fall again. I cannot blame her.
During my visit, I tried to help her walk because I knew it was necessary. I also thought she might respond to a new face. She did, just a few steps, but her anxiety was palpable. She opposed our encouragement (Tayla had joined us) with fear. Fear prevailed. It was not the best last visit with my sister. Without enough warning or preparation, Mary had waged valiantly a two-and-one-half year battle with her new disease, the disease called lung transplant, and surrendered, finally and gracefully, with dignity. Had she been warned, Mary may have chosen to avoid this battle. I will never know.
Ignorance would not be my excuse. I had been warned, by the leading medical journals from 2014 through early 2019:
“Our observations support the feasibility of lung transplantation in telomerase mutation carriers; however, severe post-transplant complications reflecting the syndromic nature of their disease appear to occur at higher rates.”
“Patients with mutations of the telomerase complex are at high risk of severe hematologic complications after lung transplantation, in particular, bone marrow failure.”
“The clinical course for lung transplant recipients with telomerase mutations is complicated by renal disease, leukopenia with intolerance of lymphocyte anti-proliferative agents, and recurrent lower respiratory tract infections…Although it poses challenges, lung transplantation may be feasible for patients with pulmonary fibrosis from telomerase mutations.”
“Patients with short telomere syndromes and pulmonary fibrosis have increased complications after lung transplant.”
“Telomere length <10th percentile was associated with worse survival and shorter time to onset of chronic lung allograft dysfunction and thus represents a biomarker that may aid in risk stratification of patients with pulmonary fibrosis before lung transplantation.”
“I[nterstitial] L[ung] D[isease] patients with telomerase mutations and short telomeres have higher rates of complications after lung transplantation, including bone marrow suppression, intolerance of anti-rejection medications and renal insufficiency.”
“Severe telomere shortening significantly increased nephrological and infectious morbidity [for lung transplant patients] . . .
“Transplant for familial IPF has outcomes similar to sporadic IPF but is associated with more cytopenia post-transplant. A subset of FPF with short telomere syndrome may have increased incidence of marrow failure and worse post-transplant survival than sporadic IPF.”
“Rare variants in the telomere-related genes TERT, RTEL1, or PARN are associated with poor post-transplant outcomes among PF lung transplant recipients.”
If Mary’s experience provided insufficient warning, these leading voices were clear about the risks of transplant for patients like Mary and me, though two articles expressed, with cautious optimism, transplant’s “feasibility” in such patients. One of these articles was authored by Mary’s own doctors well ahead of her transplant, the same doctors who sat with us in that claustrophobic conference room days after Mary’s procedure. It was published a month after her transplant. One was published by my own doctors. I consumed them all and more, and, despite remaining on the transplant list, I resolved to end my life on my terms, to avoid the “complications” and “challenges” and “poor outcomes” effectuated by my short telomeres. Until I didn’t.
Life is a powerful thing. Notwithstanding my preparation, I was not ready to die. And I knew the time was coming. As I’ve said, after my diagnosis, after my research, I maintained a simple regression of my disease’s progress based on my test results. From the earliest date, it showed my lung function would fail me at the end of 2018. By the fall of 2018, and empirical results seemed to confirm my four-year old projection: my health was degenerating quickly. Though I did not know it yet, I had become one of those persons people see and quietly think to themselves: “wow, he is sick” or “he does not have much time left” or “I am glad that’s not me” or simply, “oh my god.” No one tells you this until later, after you’ve recovered, if so fortunate. I had shed weight, unhealthily, which is always a sign of serious illness. Moreover, my oxygen needs had increased considerably. Still fine at rest, somewhat inexplicably, my requirement for supplemental oxygen for mobility was rising. Walking from my living room to the bathroom, a mere 20 steps, demanded a supplement of 10 liters per minute, the units used to measure oxygen flow. Climbing a flight of stairs required 15 liters per minute and a special mask to further improve oxygen intake; we had begun to consider configuring our house so I could live on one level or adding chair lifts to avoid climbing stairs. Things I would miss after my death occupied my mind.
Amidst this rapid decline, I had a clinic appointment on November 27. My doctor walked me, keenly aware of the gravity of my situation. Walking stresses the pulmonary system and as we walked, we talked about our recent Thanksgiving holiday. Mine spent at home surrounded by family and friends. Liz and Kate made the Tourtiere, under my close supervision. Everyone contributed their special care and recipes to a fabulous meal, coordinated by Kate. Our dear friends’ daughter, Claire, travelled home from her studies in Scotland because we all thought this might be my last Thanksgiving. I was not allowed, nor was I able, to help with preparations that week. I watched as the crowd played the traditional touch football game. My doctor’s day was spent with her sister’s family in a similarly comfortable way. Walking and talking was my doctor’s special way of testing her patients; she had done so with Mary four years earlier. My oxygen saturations levels plummeted. It shocked her, even with her wealth of experience.
Rushing me to my next appointment in the transplant clinic, she and my transplant doctor quickly decided on a strategy: I would be admitted to the hospital that day and would stay until I was transplanted. Two goals would be achieved by this approach. First, it was safer for me. Being at home in my condition could be catastrophic in a manner similar to Mary’s final hours before transplant. Second, hospitalization would increase my Lung Allocation Score, which would usher me closer to the top of the waiting list. What my doctors did not know, though may have sensed, was that I was not committed to transplant. I demurred, telling my doctors I was not ready for admission that day and asking for a couple of days to consider their recommendation.
The next 48 hours were difficult. I had to find myself, and then reveal what I’d found. From a self-assured individual unwilling to relinquish control over his future, even in death’s glare, to a picture of uncertainty, unready to face life’s ultimate challenge, death. Now, instead of the person who wanted to avoid the specter of diminished life quality for the sake of life, I found myself considering life at all cost. It was an identity crisis. And my family suffered. They had been supportive, despite their own pain and grief, of my decision to forego transplant and die on my terms, but now I might change course, grasping at a life full of challenges and burdens, most of which would fall on their shoulders. Guilt overwhelmed me but it did not overwhelm my fear. I was afraid to be gone. Afraid of not having people with me. Afraid of missing everything. To rationalize my fear, I ignored the journal articles and my sister’s experience, relying instead on a single patient who I knew little about except that he shared my genetic mutation and had had a good transplant and an even better post-transplant recovery. My doctors suggested I speak with him. His name is Matt. We spoke. So, I grasped at the straw of Matt and committed myself, and my family and friends, to transplant, letting my doctors know I was ready for admission.
I spent eight days in the hospital; contrary to hopes and expectations, I got no closer to transplant. Doctors hoped I would show a need for high flow oxygen, in the range of 25-30 liters/minute, or that other tests would indicate I was suffering from pulmonary hypertension—high blood pressure in the lungs—secondary to the fibrosis. Neither materialized. Even after an appeal by my doctors to the national organization that maintains the waiting list, my position on the list did not change. Ultimately discharge became the only option, else I lie in the hospital for an indeterminate time. Home was preferred by all. It was almost Christmastime. So, the hospital stay accomplished little, except to make me confront my decision and my fears. Now I was committed to transplant.
The story of my transplant is incomplete without a substantial discussion of the Lung Allocation Score, or LAS. It determines one’s placement on the waiting list and indicates the urgency with which a candidate needs a transplant. It’s a fascinating confluence of mathematics, calculus and statistics, and of objective test measurements and subjective observation, and of the importance of the clarity of written language. It is maintained by an organization called the United Network for Organ Sharing (UNOS). Arithmetically, it looks like this:
LAS = 100*[Raw Score +730]/1095
Raw Score = PT – 2*WL
PT is a post-transplant survival measure; WL is a waiting list urgency measure. Both are statistically derived numbers based on objective measures and subjective interpretation of those measures. For instance, both contain a number for a patient’s Six-Minute Walk Test (6MWT), but despite clear language from UNOS defining how to conduct the test, there is no standard adherence to the method defined by the language. In my case, the method used by my doctors was detrimental to my LAS. When I pointed this out to them, they made a change, which I hope will help future patients. Even more importantly, a patient’s diagnosis contributes to the score and there is subjectivity here. My diagnosis started as Pulmonary Fibrosis: Other (Specify Cause), which I discovered by studying the wait list parameters published by the Organ Procurement and Transplantation Network each month. It shows waitlist data by diagnosis and transplant centers (among many other parameters) from which I was able to deduce by process of elimination my diagnosis—it had never been made clear to me in the context of the LAS. With some advocacy and agitation, my diagnosis was changed to Idiopathic Pulmonary Fibrosis, which increased my LAS. This may seem like manipulation, which it is, but technically, RTEL1 was not yet an official cause of pulmonary fibrosis and I was still officially characterized as a patient with IPF. In medical treatment, self-advocacy is important. After all of this and many additional conversations, and some updated tests, my score rose above 50, which placed me squarely in the transplant zone.
Simultaneous to my aggressive attempts to raise my LAS, I decided to increase my chances for a transplant even further, by listing at a second center despite having abandoned the Cleveland Clinic long ago. I chose INOVA Fairfax Hospital for its proximity to home. Had I been seeking affirmation of my chosen path, which I was not, I’d gone to the wrong place. Rather than affirmation, the doctors at Fairfax undermined my chosen path, implicitly. They did not tell me I had made the wrong decision but after an evaluation, they told me I was too risky for their program, meaning the chance was too high that I would lower their lung transplant success rate. My surgery was too risky for them. Specifically, my chance of survival at the one-, three- and five-year-marks was too low. Wounded, I limped away, oxygen in tow. The doctors at INOVA salved this wound by making clear, under the existing system for allocating donor lungs, a listing at their hospital would not provide much, if any, benefit to me as INOVA Fairfax and Hopkins were close, geographically. I was not devastated by this answer for I expected it. INOVA was cautious and, but for a few key doctors at Hopkins, Hopkins too may have come to the same conclusion. Success, with me, would be challenging. I would not be discouraged. Then my dog died.
Buddy, and his littermate Becky, who died more than two years earlier, was my companion. In January, he was nearly 13 years old, and it was his time. Were I an omen-seeking person, Buddy’s demise was open for multiple interpretations in the context of my situation: “you’ve had a good run, go gracefully, with your dog” or “Buddy is clearing a path for your coming battle, he knows he is needy and wants you to be free of encumbrances as you undergo transplant” or “Buddy senses the end is near, and he wanted to go first.” And perhaps this is why I am not an omen-seeking person. Simply exercising the possibilities illustrates the inane character of omens—one can be developed to fit whatever outcomes emerge. I am pleased my dog lived a long and happy life. Based on the views of professionals, Buddy could no longer sustain a minimal quality of life, and so, we did the humane thing according to those experts. That this transpired so close in time to my own demise, or potential recovery, was a coincidence that also happened to be beneficial—there is no question that caring for Buddy would have added strain to what became a stressful time. I miss my dog, though. Becky too.
Though 10-15% of patients on the waiting list each year die or become too sick for transplant, I never imagined not getting a call. So, it surprised me that I was surprised when I received my first call, a false alarm. It came in the night, not too late, though I was solidly asleep and disoriented when I answered. I had spent the previous afternoon and early evening out with friends, celebrating as if I’d only weeks to live, which was probably accurate. It’s possible I was still slightly intoxicated when the nurse told me lungs may be available; that I should prepare to come in as the surgeon examined the lungs; and that I would receive another call in the morning if the procedure was a go. Acknowledging the instructions, I promptly went back to sleep. No call came in the morning. Three weeks later, after the pleasure of watching the New England Patriots win the Super Bowl and a visit from one of our German au pairs, Stephanie, and her sister, I began to consider the prospect of dying without a transplant. It was a low point. It was February 5, 2019. I could not sit to finish dinner with Stephanie and struggled to mount the stairs to the bedroom. As I lie in bed after the climb, I wondered if I would get up again. This pattern was becoming increasingly common, but there are no alternatives to waiting. Fortuitously, my call came the next evening, at around 6pm. The instructions were clear: report to hospital admissions at 3am for an 8am surgery.
How am I coping with my new disease? Well, all things considered. In the immediate wake of the surgery, while still in the hospital, I experienced a bout of atrial fibrillation, which, though not uncommon, is unnerving. It freaked me out. Late at night, my hospital room filled with doctors and nurses and technicians trying to recover a regular heartbeat, not the wildly arrhythmic one I’d developed. I did not know what was going on. I thought I might die. So, against their advice, I insisted the staff contact Linda, who was staying at a nearby hotel. The AFIB prolonged my hospital convalescence by a few days, but with medications, my heartbeat corrected itself without the need to resort to cardioversion, a surgery entailing the electrical shocking of one’s heart to restore a regular rhythm. I was discharged to home after 14 days, a vast difference to Mary’s nine months. At home, my family and friends mustered for the challenge of recovery. The house had been transformed, expunged of old, bacteria-carrying items—cutting boards, wooden utensils, pillows, toothbrushes—and seeded with new items—hand sanitizer at each turn, masks at each entrance, and cleaning wipes at the ready. This was before the pandemic. We’d had practice when the pandemic hit. And my diet was monitored to avoid undercooked meat or seafood, or no deli meat not heated to 160° or no egg yolks or no soft cheese or any other item from the long list of dietary prohibitions. A veritable fortress of protection guarding my new lungs against external dangers. Unfortunately, the most serious danger came from within.
About a month after my transplant, my lung function began to decline. Each day, twice a day, the transplant team required at-home pulmonary function tests, using a small device designed for such purpose. One’s results should improve as time passes; mine began to get worse. A few days after the measurements started to decline, I had a bronchoscopy scheduled, which was, according to my transplant team, the proper way to uncover the source of the decline. It and blood tests uncovered that my body was rejecting my new lungs, in two ways: acute cellular rejection and antibody mediated rejection. The former occurs when immune cells attack the new lungs; the latter is when cells produce antibodies to attack the new lungs. This double-whammy landed me in the hospital for 10 days, needing a treatment of high-dose intravenous steroids and five-day course of plasmapheresis, during which all of one’s blood is drained, filtered of the offending antibodies by removing the plasma, and replaced with a plasma substitute, usually albumin. Afterward, the patient is given immunoglobulin to help replenish the lost antibodies. Though I expanded to resemble a marshmallow man, the treatments were successful, and I was rejection-free, for the moment. But rejection is one of the feisty challenges of transplant—it can emerge, or reemerge, any time, from months to years later. In fact, some form of rejection is usually the cause of death of lung transplant recipients. Truly, transplant patients are trading one disease for another. My rejection is still occurring, at a low level, held at bay by continual immunoglobulin treatments.
While I was in the hospital for my rejection treatment, Mary died. She had been in another rehabilitation facility following her second fall, which resulted in another brain surgery, and was transferred to Rhode Island Hospital suffering respiratory distress. Her new lungs were no longer functioning, with doctors suspecting Aspergillus as the cause of the deterioration. It is a fungus that can grow on many substances, but a particularly dangerous type attacks the lungs of people with already-weakened immune systems, a category into which Mary squarely fit. When hope was gone, Mary and Tayla agreed it was time. Family and friends would come for final visitations, and then the machines keeping her alive would be turned off. It happened on St. Patrick’s Day; Mary would have been happy with that homage to our mostly Irish heritage. I cried in my hospital bed. Mary and I had never been too familiar, but our shared disease brought us closer. And losing family members, despite our unconventional history, grieved me, perhaps unreasonably. And there was the guilt. I feel I pushed Mary down the transplant path with all its attendant consequences. Had I not done so, though, Mary would not have lived the final two-and-one-half years. Would it have been better that way? I will never know, but from my limited knowledge of her feelings, there is a significant chance she would have answered, yes. This guilt was exacerbated by my own, to that point, trouble-free transplant experience (despite being in the hospital, my doctors expected a quick recovery and characterized my present condition as a “bump in the road”). I had hoped for so much more for Mary.
My bumps continued. In the hospital I had to have more than one liter of fluid removed from chest cavity through thoracentesis, a procedure involving a needle inserted between the ribs into the lung cavity. Fluid, which had been constricting the expansion of the lung, drained through a tube attached to the needle. It is comfiting and discomfiting at once—needles in the back are never pleasant, but the immediate sensation of improved breathing makes it worth the pain. Bronchoscopies were another necessary evil. Each one was a challenge because I bled extraordinarily as a result of my naturally low platelet count. This blood accumulated in my lungs, causing shortness of breath, causing me to cough, which probably caused more bleeding. I hate bronchoscopies. But they are useful. My most recent “bronch” uncovered pneumonia resulting from flu—I thought I had a cold. The impressive array of medications I take masked the full symptoms of my flu but with the bronchoscopy results, doctors were able to narrow the type of infection quickly, allowing targeted treatment and quick release from the hospital, which is always a priority of mine.
I want to say my bumps are anomalies, but that’s not true. I want to say that I’m having an easier path than Mary, but I am uncertain. Early in my recovery, I finished a course of pulmonary rehabilitation, which enabled me to get stronger and even begin some jogging. It was promising, but excess fluid became my nemesis. Every three months I seemed to need thoracentesis to empty my lung cavity. Eventually, my team of doctors concluded that my heart was not pumping well enough to eliminate the fluid: a malfunctioning heart had “downstream” effects on the liver and kidneys and other organs, and it causes one’s vascular system to fill up with excess waste. I required open-heart surgery for a pericardiectomy. Surgeons needed to open me up and peel the outer layer off my heart because it had thickened, restricting the heart’s pumping. It was a complicated surgery because all open-heart surgery is complicated and because my thoracic cavity had already been wired shut from my lung transplant. My crisscrossing scars are a map of my journey for posterity. After that, I required more lung surgery. The frequent and prolonged retention of fluid in my lung cavity had caused a layer of scarring against my new left lung, preventing it from expanding. Only partly successful, the surgery resulted in more AFIB, and this time I required the cardioversion. Electricity prodding my heart to behave. Also, I will need to be satisfied living with diminished capacity in my left lung. There are worse things. My ongoing rejection is under control though I am constantly wary of it flaring. This is the bit about trading one disease for another. I can only continue my treatments. As I write, though, I feel better than at any time since my transplant. I count that a victory.
I returned to Block Island each of the three summers after my transplant. Now I’m starting a fourth; once, it was a place I thought I would never see again. I also thought I would not see my daughters’ college graduations. But the summer after my transplant, I travelled to New York City to witness my eldest daughter walk across the stage at the Radio City Music Hall to receive her diploma from New York University. It was priceless. Then, I attended my youngest daughter’s graduation from Tufts University. Because of COVID, it was a virtual graduation, but I saw see it. These are the things I was afraid to miss. These are the reasons I chose to live.
And what of my effort “to learn, and write, about my parents. To explore their lives. And to understand how my parents, before and after their deaths, affected me and my life.” I am satisfied with the result, but never imagined how it turned out. Precipitated by an act of infidelity, some other act on November 15, 1968, stole my mother’s life from her. And stole it from me. And from many others. Calamitous events followed, defining my life. A life given me by my parents, and through no fault of their own, almost stamped out by them. It is difficult to say which one of them passed their genetic mutation to me. Not impossible, only difficult. I will leave that stone unturned.
And what happens next? Amazing medical technologies exist now and are maturing rapidly. Technologies that did not even exist when I was diagnosed and then transplanted. The human race can alter genetics. We can fix mistakes. Scientists and politicians and ethicists debate whether we should unleash this capability. That is, use it to cure people of disease. Some worry about unintended consequences and malfeasance. I do not share their worry. Every scientific advancement suffers the same question. We cannot hold back for fear of our own shadows. Selfishly, my worry is my daughters may be afflicted with my mutation. If necessary, technology must save them. I am hopeful it will.