Surviving Amyloidosis by Tove Jensen
American/Norwegian halfbreed living in New Zealand diagnosed with AL Amyloidosis and Multiple Myeloma in January of 2017 at the age of 51. Heart condition Mayo Stage 3b, autonomic nervous system damage affecting stomach motility, and possible digestive tract involvement. Did two months of CyBorD chemotherapy regime and achieved complete remission. Heart function has improved and I am active again and still in remission as of November 2019.
It started with fatigue and strange sensations in my chest. They were fleeting sensations that felt like muscular cramping and skipped or fluttering heartbeats. I was noticing that in the early morning after taking my thyroid medication while I was still in bed I could feel my heart rate increase rapidly. I stopped taking my thyroid medication thinking that was the cause of the heart palpitations. I did not think I was having heart attacks because I did not feel sweaty or nauseous and no other heart problem crossed my mind. I thought the sensations in my heart were just stress and I did not want to bother anyone about it. I thought I felt tired and out of sorts just because I was under extraordinary stress. I was 50 and back at university studying psychology and had recently moved internationally with a husband, two dogs, and a shipping container full of furniture, bikes, skis, books, and clothes. We were living temporarily in a university town in New Zealand where my husband and I did not know anyone. We arrived back into New Zealand at the end of 2015 and moved to Palmerston North in January 2016. As the year progressed I was feeling increasingly short of breath when I rode my bike to school or ran up hills and stairs. I thought I was just out of shape. I tried to reason myself out of feeling like something was wrong. I was absolutely determined to finish the two terms at university that I had committed to and so I ignored the fatigue, heart palpitations, swollen ankles and dizziness. I walked my dog almost every afternoon in the year leading up to my first hospital visit. I walked a flat pathway along the Manawatu River. I would sprint up stairs and embankments on my route. The same set of stairs was getting progressively more difficult as the months went by until I was leaning forward with my hands on my knees to recover at the top because I was so winded. One day I ran to catch my dog as she was running to greet someone who did not look like they wanted the attention of a dog. I sprinted to grab her collar, but my dog ran faster and then I almost blacked out. There were spots dancing in front of my eyes for about thirty minutes as I walked home. I was tired and exhausted most days and in bed by 8pm. The cardiologist who misdiagnosed me echoed what I was trying to convince myself of you’re just under too much stress. He could see from my blood test results (elevated BNP and Troponin T) that my heart was damaged but he did not know why. So he said the shortness of breath I was experiencing must be just because I was out of shape. He gave me the standard drugs, beta blockers and ACE inhibitors, that are prescribed for heart failure and said, take the drugs and keep trying to exercise and you will be fine. I later learned that those drugs are not recommended for cardiac amyloidosis patients like me. I kept asking, what is this tingling sensation I feel running up my spine and into my head? Why is my belly swelling up? Why am I so tired? You are obviously anxious, the cardiologist said in way that I received as condescending. Hell yes, something’s wrong and you can’t figure out why! Of course I’m anxious. I’m 50, unhappy, stressed, alone (did I mention I was lonely?) and I’m trying to reinvent myself, create a new career and start my life over in a foreign country with a husband who is rarely home. Why would I not be anxious? Stressed. Scared. Emotional. None of that however explains why I am increasingly short of breath, dizzy, weak, swollen with fluid in my legs and belly and I’m tired all the time. Eventually, I consulted another cardiologist for a second opinion. Three months after my first hospital visit, the day after my fifty first birthday at the very end of 2016, I sat in front of a cardiologist who I had never met before and I heard a word I had never heard before. He told me that my heart was failing because I have a rare disease called amyloidosis. I soon wound up back in the hospital unable to cope with the now rapid decline of my heart function. I was short of breath walking any distance, my stomach and legs were swelling up even more, and I could not lie flat on my back to sleep. I needed a stack of pillows to keep me propped up. I had to keep my heart above my waist so it did not get overwhelmed with blood flowing too much too fast into it. I could not lie down flat and I could not bend over to pick something up off the floor. Now I knew I was dying. I quickly researched amyloidosis and learned that there is only one amyloidosis specialist in New Zealand. He practices at Waikato Hospital four hundred kilometers away from where we were living. I was determined that he would be my doctor but I was too sick to bend over and pack a box. My mother came down all the way from Norway to help. I was having coughing fits and spitting up white foamy mucus. My stiff heart would not stretch to receive fresh oxygenated blood from my lungs because the left ventricle would not expand and I had fluid buildup in my lungs. It felt like I was drowning from the inside.
Amyloidosis seems awfully grim if you only read about the statistics online. Maybe most diseases seem grim if you are the one suffering with it. But amyloidosis did appear impossible to survive if I believed the information I was reading on the Internet. Even though it seemed like all bad news, I persisted. I had to face my demon and know my enemy. So I dug deep into medical literature and scientific studies and learned about things I never wanted to know. At first the information was a jumble in my head. Being in physical distress makes it hard to focus for very long on one thing. I would read something about amyloidosis and then watch a movie or comedy show and then take a nap. This went on for a year as I went through moving, medical visits, chemotherapy, hospital internment, remission, ongoing treatment for heart failure symptoms, and a slow physical recovery. My physical fitness declined rapidly after my first hospital visit, misdiagnosis, and I began taking beta blockers and ACE inhibitors. Week by week I went downhill. By early November I had stopped riding my bike to school but I was riding on a stationary bike at home and my legs were swelling up with fluid when I pushed harder and tried to elevate my heart rate. I had what is called pitting edema. Press a finger into my puffy leg and pull it back and the dent the finger made would stay there. By the end of November I could barely walk around the block and when I ate a big meal my whole abdomen would stick out like I was pregnant. By the middle of December when I could not lie flat anymore because my heart had to be above my waist I got a foam wedge for my bed and stacked it with extra pillows. I sleep propped up like this for well over a year. I also could not lie on my side. If I rolled onto my left side I would immediately feel an urgent panic rise up in my chest. I could roll onto my right side briefly, but the panic sensation still came up. The edema, the shortness of breath, and being unable to lie flat were symptoms of heart failure. My distended abdomen was also a sign of edema that is particular to heart failure from cardiac amyloidosis. Fluid collects in veins in the back of our abdomens. I don’t know why and I can’t find an explanation.
My heart muscle has been infiltrated by too many amyloid and the fibrils they created are thickening my heart muscle making it rigid and unbending. There is literally a wall forming around my heart. A hardened heart muscle does not relax-and expand when the blood comes rushing in from the lungs. This is called diastolic dysfunction. A heart damaged by amyloid has to pump faster in little efforts to keep up with the volume of blood in the body. It pumps faster and faster. Until it eventually gives up and stops pumping and the person carrying the heart drops dead. I was told that I wouldn’t even know what had happened. A heart infiltrated by amyloid will just give up one day. Lights out. It’s called electromechanical dissociation because amyloid disrupts the heart’s electrical system. You will be found unresponsive a junior doctor casually told me in relating a patient story about a 30 year old with 5 children whose heart stopped because of cardiac amyloid. The young doctor’s face grimaced as she said sorry after telling me the story about the amyloidosis patient dying young. I don’t know why she needed to tell me that story. But then she saw my reaction and maybe it dawned on her that I did not want to face the prognosis of an early death while sitting in her office. I was intent on making every effort to live and I needed hopeful encouragement from medical staff to help keep me going. I did not ask anyone how long I had once I was diagnosed. A Google search reveals a grim prognosis for someone like me. I did not want anyone to stand in front of me and say that I was going to die soon. Perhaps it was denial. The hematologist who drew my bone marrow sample seemed like he really wanted to tell me how long I had. I intentionally did not ask him so he had to ask me how long I thought I had. I shrugged, 10 years? He said, no, way less. I could still walk at that point.
Four months later my husband was wheeling me through the long corridors of the hospital in a wheelchair. After I had an atrial fibrillation in the coronary care ward a doctor whispered terminal in my ear and I still did not ask, how long do I have?
When I was a healthy person I had a low resting heart rate. I was a fit athlete. But my stiff amyloid heart was pumping faster and faster as my condition deteriorated. When I lay in bed in the emergency room the monitor above my bed showed my resting heart rate to be a hundred beats per minute. My husband looked at me incredulous. Nurses did not react because they think a hundred beats per minute is normal. But it was not normal forme, and my husband knew that. My heart rate should be fifty at most if I am lying around in bed. We knew something was terribly wrong with my heart. I had written in my journal six months before I went into the hospital, something is wrong with my heart. However, I could not say exactly what it was. Before I was properly diagnosed the cardiologist said, well, you are obviously anxious. I believed for a long time that it was stress. I was just stressed. How could a 50 year old healthy female athlete have a heart problem?
Amyloidosis is classified as a rare disease. It’s rather amazing that there are not more cases of amyloidosis given how many proteins we have folding within us at any given time. There are a number of different kinds of amyloid disorders. The prevalence of systemic amyloidosis, also called AL amyloidosis, like I have is three to twelve people per million. In a country like New Zealand where I live, with less than five million people, this means there are somewhere between fifteen to sixty of us here. I don’t know exactly how many cases of amyloidosis there are in New Zealand because there is no registry for our malady, so I can’t be sure. Though there are thousands and thousands of different proteins in the body only about 30 have a propensity to misfold and become an amyloid. These amyloids are local or systemic. They are created in the area where they aggregate or they form in the bone marrow and then travel to an organ where they build up. If they form in your bone marrow you have primary systemic or AL amyloidosis like I have. In AL amyloidosis a protein that is part of an immunoglobulin mutates. Immunoglobulin form in the bone marrow and they are made up of four proteins. Two of those proteins are called heavy chains and two are called light chains. AL amyloidosis is caused by a misfold of one of the light chains. There are five different kinds of heavy chains, IgG, IgD, IgA, IgM and IgE and two different kinds of light chains, Kappa and Lambda. In my bone marrow a Lambda light chain had misfolded. And that is where cancer was hiding in my body. I not only have AL Amyloidosis I also have IgA Lambda type Multiple Myeloma. Blood cancer. I processed the emotion of being diagnosed with an incurable deadly disease while I was alone in the back bedroom of a brick house in a foreign suburban neighborhood. My feelings alternated between terror and numbness. I was diagnosed just before Christmas and went back into the hospital before New Years Eve unable to cope with fluid overload from edema. After the holidays were over I had an MRI of my heart to confirm the cardiac amyloidosis diagnosis from the cardiologist that I consulted for a second opinion.
On Monday 9 January 2017 I was driven two hours in an ambulance with a nurse as escort,to have an MRI at a hospital in Wellington. We came back with the results in an envelope. Cardiac amyloidosis confirmed. My husband quit his traveling job to care for me. Something that I have learned on my journey through the medical system with a rare and incurable disease is that we could all do with improving our communication skills in these delicate situations. After I was diagnosed I wish someone had been available to educate me about amyloidosis and share the positive current news about new drugs and treatment results. The statistic that I needed to hear was 25 – 50% of us will, without additional drugs, recover organ function after we achieve remission. Instead, I encountered doctors who treated me as if amyloidosis is a death sentence and recent medical graduates and nurses who had never heard of the disease. If my story can help a newly diagnosed amyloidosis patient in the future, then I will have succeeded in paying my debt for survival forward. Amyloidosis comes in different forms. There is the systemic AL amyloidosis like I have and there is also a hereditary variant and a senile type that strikes older people. Amyloidosis is a rare disease but within the whole population of amyloidosis patients my Lambda version is the more common. But having both amyloidosis and blood cancer is less common. Only about fifteen percent of amyloidosis and myeloma patients overlap and have both diseases. If you have myeloma and amyloidosis and are looking for someone else facing the same challenge it’s hard to find anyone with the same story. My current hematologist who is an amyloidosis specialist had told me that amyloidosis patients are all different. We can learn from each other, but must remember that each of us is unique in how we manifest and recover from this disease. There are no set medical protocols in New Zealand for a patient with multiple myeloma and amyloidosis. I have to take each day as it comes. Myeloma and AL Amyloidosis are both treated with a chemotherapy regime to kill the abnormal plasma cells. But no patient is considered cured of either disease. My hematologist expects me to relapse and do more chemotherapy and maybe a stem cell transplant. We have a long term medical plan. It’s possible I won’t die of amyloidosis and the long term plan will work. However, I watch my mind fixate on the word amyloidosis and magnify the threat, crowding out other thoughts like a malignant plasma cell crowds out healthy plasma cells in my bone marrow. I watch the workings of my mind a lot. I’ve been meditating for thirty years. Meditation practice helped me to survive the challenges of amyloidosis and chemotherapy treatment. Meditation practice helped me to cope with the uncertainties that I faced. Duringmy sleepless nights and days I experimented with different kinds of meditation practices that I had learned over the years. Sometimes I managed to rest in the quiet space that exists in the very small gap between different worried and confused thoughts. But meditation practice does not stop my fascination with wondering what it will feel like to die. I have a sense of it coming closer. I feel like I am standing at the edge of an abyss. Like I am standing on a cliff on a dark night with no moon. I can sense vast empty space in front of me and I am teetering back and forth. I imagine the sensation of free fall. Fear and curiosity arise at the same time. It’s not easy to hear a terminal diagnosis and rationalize, well we all die of something, and then keep living like it did not matter. It does matter. This is a wakeup call reminding me to pay attention. I encounter the symptoms of blood cancer and amyloidosis as teachings on the value of life. I am mindful now to every minute of my precarious life. I first noticed symptoms of heart failure in early 2016, I was diagnosed at the end of that year and began chemotherapy in March of 2017. I did two months of CyBorD chemotherapy and achieved a complete remission (CR). The hardest symptom of heart failure that I endured from amyloidosis was the edema in my abdomen and legs. My heart struggled to pump with all that extra fluid inside of me. Each heartbeat rocked my upper body as I lay propped up in bed. I struggled to digest food and drugs and absorb nutrients. The diuretic pills that I need to help me pee out the fluid were not working. Chemotherapy drugs exacerbated the edema and I swelled up more. My medical team finally came up with a plan to use large doses of intravenous diuretics to rapidly shed the fluid causing edema. After I achieved merciful complete remission I still needed intravenous diuretics for four months while my heart slowly improved. Then diuretic pills started working and I was on a daily regime of 240 mg of furosemide, 100mg of spironolactone and occasionally 2.5mg of metolazone to boost the efficacy of the furosemide. I would pee out almost five pounds of fluid in one day with the metolazone boost. Over two years later as I write this in November of 2019, I have not needed furosemide for over two weeks and I am down to 50mg of spironolactone on a daily basis. My heart is continuing to improve.
I am patient and know that I could continue improving heart function for a few more years. I had an echocardiogram of my heart recently. It’s been 10 months since my last one. Functionally I have improved in the past 10 months and the physical structure of my heart is proof that a heart can recover from the damage of amyloid. At my worst, just as I started chemotherapy, my ejection fraction was 32% and my stroke volume was 11ml. Now my ejection fraction is 65% and my stroke volume is 36ml. My heart still shows the obvious signs of amyloidosis, with thickened walls and apical sparing. But my heart muscle is stretchy again, more soft and pliable, receiving blood and life. I can ride my bike and run up hills too. I can now chase after my dog. Perhaps my story will give you hope. When I was dying I reached out and found positive stories from other amyloidosis survivors and they helped me to survive the pain and uncertainty, the sleepless nights, and the lack of knowledge that I encountered from medical staff.
Every small encouraging improvement we experience is reason for celebration. Amyloidosis requires us to be brave, patient, and resourceful, but it does not need to kill us. May you be happy, healthy, and free from suffering. I have written a book titled Saving Wilma Bird: Killer Storms and Rogue Proteins about my amyloidosis experience that I hope will be published soon.
Any questions can be directed to : SavingWilmaBird@gmail.com.
More information will be available at SavingWilmaBird.com once I finish designing the website.