Sean shares his experience with hATTR

My journey to diagnosis lasted eight years. Over that period, my symptoms started with bilateral carpal tunnel syndrome (which seemed benign at the time), continuing with progressive neuropathy in my feet, legs and forearms. Additionally, I experienced progressive autonomic degradation and enlargement of my heart’s left ventricle. 

I found myself experiencing what seemed like an endless cycle of emotions: fear, anxiety, frustration, depression and loneliness. I’d ask myself why this was happening, and I started fearing the worst. Nobody seemed to understand what I was going through. 

In June 2018, I moved to Abu Dhabi. In July, I fainted while walking to my apartment. I was taken to a local hospital where the doctor diagnosed dehydration. A few weeks later, I fainted a second time. This time, the doctor suggested I see a cardiologist in Abu Dhabi. I had several visits with the cardiologist, during which time he identified orthostatic hypotension and significant thickening of the left heart ventricle. 

The doctor advised me to travel to the United States to be seen at the amyloidosis center at a hospital in Boston. After a series of tests, my doctor confirmed in March 2019 that I had hereditary ATTR (hATTR) amyloidosis. 

hATTR amyloidosis is a type of systemic amyloidosis disease in which harmful protein deposits form in the nerves, heart, and digestive system.

There is no cure for the disease, but there are treatments available. I discussed the options with my doctor and have a treatment plan that seems to be working for me. Although my physical condition varies from day to day – some days, I feel great while other days I can feel physically exhausted – I feel as though I’ve been given a second shot at life

hATTR amyloidosis is extremely rare, affecting approximately 50,000 people worldwide. As a result, living with the disease can feel isolating. Fortunately, there are support groups available. It helps to be able to speak with others who are experiencing similar symptoms and emotions. My disease can be a significant burden to caregivers, family and those around me. I’ve been very fortunate to have extremely supportive family and friends. 

I’ve had to modify the goals and expectations I have for myself. In the past year, it became apparent that I wasn’t physically capable of continuing my career. As a result, I’m now considered disabled and no longer work. I’ve found that this has opened up time for me to not only focus on my health, but it also allows me to participate as an advocate for hATTR amyloidosis awareness.