Being diagnosed with hereditary amyloidosis (specifically, the T60A variant of hereditary cardiac transthyretin amyloidosis, or ATTR-CM) was difficult for me to come to terms with. However, I was fortunate enough to be diagnosed at a time when there was a new drug available that would literally save my life.
Read more about Sean’s journey through diagnosis: “Searching for answers: The start of my amyloidosis story” and “My journey to diagnosis, half a world away from home.”
Battling physical and mental exhaustion
In late April of 2019 — seven years after I first experienced symptoms — I started my treatment on patisiran, a drug designed to interfere with an errant RNA signal that triggers the production of amyloid fibrils. At the same time, I was admitted into the hospital as my disease symptoms (cardiomyopathy, peripheral neuropathy and autonomic neuropathy) had rendered me in poor health. I spent three weeks in the hospital, followed by a week in a physical rehabilitation facility, during which time my symptoms were stabilized.
As the months rolled on, having received more doses of patisiran, I started feeling a bit better. My doctor explained to me that, although there was not a cure for the disease, the medicine was drastically reducing the further production of amyloid fibrils in my body and reducing the resulting toxic effect of that process. Out of necessity I had suspended my career, but by late 2019 I felt good enough to take a shot at resuming work.
In February of 2020 I accepted a job offer and attempted to start working again. Shortly after starting (the job entailed rotating shift work) my health started to degrade. I was losing weight and was both physically and mentally exhausted — classic symptoms of the disease. By June I had to make the difficult decision that I was, at least for the foreseeable future, not going to be able to work, and would have to go on disability.
This decision was devastating to me, as my career had been a large part of my identity. I felt like I had no purpose, and I wasn’t sure how I was going to get by. I suppose what I was going through could be looked at as the typical “stages of grief.” Depression set in to the point that I had to seek professional counseling.
Looking past the challenges
Eventually, through counseling and the support of my fiancée and brother, I was able to come to terms with my new reality and ultimately realized that I had a choice: either play the victim, or seek out the positive. Finally, the light went on in my head and I was able to identify that having this disease had provided me with three opportunities I would never have had otherwise.
Most importantly, had I not been diagnosed with the disease, and had I not needed to return to Boston for treatment, I never would have met my then-fiancée, Robin. We are now married, and she is my soulmate and the absolute rock in my life, providing endless emotional support and filling each day with love and joy.
Secondly, I saw the opportunity to reinvent myself. I could no longer work, play ice hockey, lift weights or do many other activities that I once enjoyed. But one day while sitting at my dining room table I started to doodle and realized, “Hey, wait a minute, I can actually draw.” That was the beginning of what has been such a fulfilling hobby. Additionally, the disease has afforded me the time to take up other activities, like cooking and vegetable gardening.
Lastly, I identified the opportunity to get involved and help raise disease awareness. In 2021, through the Amyloidosis Speakers Bureau I started travelling the country giving talks to medical students. Additionally, I have given speeches at various events in the rare disease community, and most recently travelled to Ireland to speak at the “Amyloidosis Ireland” annual conference.
My 12-year journey with amyloidosis, from onset of symptoms, through diagnosis, treatment and living my “reinvented” life has certainly had its challenges, but with the support of my loved ones, I can say that I am leading an enriching, fulfilling, and happy life. My hope for other amyloidosis patients is that they can look past the challenges and identify positive opportunities… They are out there.
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