Being diagnosed with hereditary amyloidosis has had a profound impact on my life. The journey to diagnosis and life after diagnosis has been quite a rollercoaster ride, with many trying times; however, the experience has afforded me the chance to forge a positive outlook on life, and extract opportunities out of a challenging situation.
In February of 2019 I was diagnosed with the T60A variant of hereditary cardiac transthyretin amyloidosis (ATTR-CM), a variant that also affects both the heart and the peripheral nerves. It was just prior to my 56th birthday, after years of mounting disease symptoms and missed opportunities for diagnosis. The first six years of my journey took place in New Hampshire and included multiple failed diagnosis opportunities from physicians at the local hospital system. (Diagnosing amyloidosis is very challenging, particularly for facilities and physicians not trained as specialists in the disease, so I don’t necessarily fault the physicians who treated me.)
Missed early signs of disease
My journey began around 2012, when I developed carpal tunnel syndrome in both hands, along with a condition called “trigger finger” in three of my fingers. I ended up having surgery on both hands. I didn’t really have too much concern, as I knew that carpal tunnel syndrome was a fairly common malady. However, little did I know, and little did the hand surgeon know, that bilateral carpal tunnel is often an early symptom of the disease.
At around the same time, I started experiencing numbness in my left foot and ankle. I had previously had vascular surgery on my left leg, and attributed the numbness to nerve damage from the surgical incision. Little did I know, what I was actually experiencing were early signs of peripheral neuropathy, another common and early symptom of the disease.
Fast forward about a year or so. I was sitting at home doing work at my desk, and stood up to take a break. Upon standing, I began feeling an uneasiness in my chest. It felt like I was going to faint. Convinced that I was experiencing a cardiac event, I was transported to the local hospital by ambulance. The attending emergency room physician ordered all of the standard bloodwork and tests.
The results came back and there were no positive indicators of any cardiac event. Again, it was the same theme: little did I know, and little did the attending cardiologist know, but what I was experiencing was an acute episode of hypotension, as the disease was now impacting my auto neuropathic system, specifically a degradation in my body’s ability to maintain blood pressure.
Worsening symptoms
Shortly thereafter I started experiencing a variety of gastro-intestinal issues, including acid reflux, nausea while eating, and alternating bouts of constipation and diarrhea. I made an appointment with a gastroenterologist who performed an endoscopy and a colonoscopy. The visual results from the tests showed no evidence of any physical abnormalities. Had the physician taken tissue biopsies, they likely would have seen evidence of amyloid intrusion into the tissue and/or to the associated nerves. What was likely happening was that amyloid was building up in the tissue and my auto-neuropathic symptoms were advancing.
But I remained undiagnosed, and my gastrointestinal symptoms triggered a two-year period where I lost almost 70 pounds.
Fast forward another year or two, and I experienced the same type of uneasiness in my chest that I had previously experienced. This time I was at work, and was taken to the same local hospital by ambulance. They performed the same set of cardiac tests that they had previously done, and again there were no indications of any cardiac event.
This time the attending cardiologist, knowing my history, ordered an angiograph to see if there were any noticeable physical abnormalities to my heart. When the doctor got the results back, he sat me down to describe the results. I remember him trying to reassure me, saying “Sean your heart actually looks rather robust, like an athletes’ heart, and if I were you, I’d go home and start training for a marathon.”
Unbeknownst to him, what he was actually seeing was the enlargement and stiffening of my heart, due to the buildup of amyloid fibrils.
Struggling without a diagnosis
All of these symptoms were taking their toll on me psychologically. I knew there was something wrong. I grew up playing ice hockey, continuing to play in adult leagues, and enjoyed lifting weights. I was a strong individual, and was struggling to understand the pronounced decline in my health and physical capabilities.
It finally reached the point where many of the people around me, including physicians, were beginning to suggest that I was imagining things. I will share that the emotional stress became overwhelming, and had a devastating effect on both my personal and professional life.
In 2018, after 30 years of working for the same organization, I was offered an early retirement package. At the same time, I was approached with a professional opportunity to teach engineering in Abu Dhabi, in the United Arab Emirates. In spite of my degrading health, I made the decision to pack up and move almost halfway across the globe. Ironically, this decision would end up saving my life.
Sean’s story continues in his next column: “My journey to diagnosis, half a world away from home.”
Sign up here to get the latest news, perspectives, and information about ATTR-CM sent directly to your inbox. Registration is free and only takes a minute.
