My dad was one of the toughest people I have ever known. Starting at the age of three when he was hit by a truck, he spent large portions of his life hospitalized for a variety of reasons. As a child, he endured several surgeries and hospitalizations after his accident, was later bit by a rabid dog, and once fell off a roof he was repairing. When my daughter Cambria was diagnosed with a rare disease in 2009 at four months old, he understood perhaps better than anyone what it’s like to be a hospitalized child because he had been one himself.
When I was a kid, he was rarely down with a cold or the flu, despite a heavy travel schedule and a lifelong smoking habit. Dad was relatively healthy aside from high blood pressure issues and heart concerns. As a young adult, it became more obvious to me that Dad had some major medical concerns ranging from an aortic dissection to a quintuple bypass. After each medical event, Dad recovered and came back stronger than ever despite incredible odds.
It was clear Dad was gearing up for another medical battle as his energy declined and he became unable to eat in early 2012. Together, we saw several specialists, eager to find a reason for Dad’s health decline. There were rounds and rounds of tests and after yet another hospitalization in 2012, doctors were still unsure of “what” exactly was wrong. At night, I would spend hours with medical research books and websites, reaching out to my daughter’s specialists at the NIH and across the country in an effort to find a diagnosis for my Dad.
In August 2013, we visited a specialist we had seen the previous year who was finally able to offer a diagnosis of Amyloidosis. Later that day, Dad checked into the hospital for the last time and spent the last few weeks of his life battling a diagnosis that virtually no one had heard of.
How We Managed the Rare Disease:
Since we had only weeks between Dad’s diagnosis and his passing, it was a challenge to coordinate his specialists with his primary care doctors in the ICU. No one had much experience with the diagnosis and everyone was reluctant to give him a prognosis. To further complicate things, the day after Dad checked in, he underwent a COPD induced tracheostomy that rendered him unable to speak verbally.
As Dad’s legal representative, and more importantly, his daughter, it was important for me to advocate for my dad since he could not. As his advocate, we had discussed his desires for a DNR order prior to his hospitalization and which treatments he did and did not want. Having the documentation and legal forms that outlined my Dad’s wishes made it much easier for me as his advocate since I was not making decisions for him, but enforcing the choices he had made for himself.
From a practical standpoint, we used small white boards to communicate with him and to give him a way to communicate with his nurses and doctors. I was very fortunate to have the ability to meet with his specialists every morning during rounds since that gave me the opportunity to ask questions about his care and treatments. During this time, I kept careful notes and used spreadsheets to monitor changes to his treatments or new symptoms.
We were unable to take advantage of these resources, but the following organizations are great places to find support: