Amyloidosis? Yes, You Need to Know
As a communications director, it’s my job to tell other people’s stories. However, I’m not always so comfortable telling my own. Even so, I want to tell you my dad’s story. More than that, I need to tell you about amyloidosis, the rare disease that took his life, so we can help save others from the same fate.
My dad’s illness started last summer – a string of symptoms that couldn’t be explained, dozens of doctors’ visits, and growing frustration that despite treatment, he wasn’t getting better. Instead there were new symptoms at every turn.
By Rosh HaShanah, our family’s frustration had turned to anger. With my brother’s wedding just three weeks away, my dad’s symptoms were getting worse. Thankfully, just after the holiday, my parents saw a new specialist who shared our concerns about all the worsening symptoms and admitted my dad to the hospital. The full team of medical professionals working together hoped to get him well enough for the wedding and, most important, settle on a diagnosis.
As my dad’s symptoms worsened, his doctors ran tests, tried one new medication after another, and searched for a diagnosis that would explain all that was going on. When they became concerned that he might not be able to attend the wedding, I put my camp counselor skills to work, strategizing about how to get a video feed from the ceremony into his room. Thanks to their skill, persistence, and a bit of luck, my dad was able to attend Brian’s wedding and we got a diagnosis, hearing about amyloidosis for the first time just hours before everyone arrived in town for the wedding.
In amyloidosis, the body produces an abnormal protein (amyloid), which gets deposited in healthy tissue and organs, causing damage. My dad’s amyloid proteins were affecting his heart, which is known as cardiac amyloidosis. The increasingly stiff muscle and its deteriorating ability to pump resulted in the symptoms he’d been experiencing: congestive heart failure, shortness of breath, swelling of the legs and abdomen, an enlarged tongue, tingling and numbness in his hands, dizziness, and unexplained bruising, especially around the eyes.
To prevent the disease from progressing, it’s critical to address the abnormality that leads the body to produce amyloids. For this reason, my dad received steroids immediately, and started chemotherapy two days after the wedding. We were hopeful that his heart function would improve, his symptoms would subside, and a bone marrow transplant would follow. The possibility of a heart transplant also was on the table because the damage to his heart was already severe.
With a diagnosis finally uncovered, a fairly good prognosis in place, and a treatment plan already underway, I returned home to New York. I spoke regularly with my parents and the doctors, glad to know that my dad’s heart function was improving and that he had met with a heart transplant team.
Nonetheless, early on the morning of November 3, 2015, my dad’s heart stopped – and despite their best efforts, doctors and nurses couldn’t save him.
Although I don’t agree with this part of God’s plan, we had squeezed a lot of living into his last 11 months: rejoicing as he marked his bar mitzvah at age 68, celebrating his retirement, taking a family cruise, and seeing Jennifer and Brian get married. In addition to serving as best man that weekend, I spent time caring for my dad. Although we didn’t know it then, those precious moments, in which our roles were reversed – I was the caregiver and he was (unwillingly) the one being cared for – were the last time we would be together.
The Talmud says that whoever saves a life, it is as if he saved an entire world. Although modern medicine couldn’t save my dad, it is part of God’s plan that I be affected by this disease in a way that will help save others. Telling his story – as a way to raise awareness – has become an important part of my mourning.
Amyloidosis, which affects fewer than 200,000 in the U.S., often is characterized by a broad range of disorders and symptoms that vary from patient to patient. Thus, relatively common symptoms can hide the underlying disease, leading to misdiagnosis and delayed treatment. Early diagnosis requires increased awareness about the disease and its symptoms throughout the medical community. In fact, according to one doctor, amyloidosis is not rare, but underdiagnosed – making timely diagnosis and treatment by experts truly lifesaving.
Today, Monday, February 29, is Rare Disease Day. For the first time, my family and I are using this day to talk about amyloidosis – among our own friends and family, doctors, and decision-makers – and the impact it’s had on our lives. I invite you to join us so that together, and in memory of my dad, we can help save others.