One Man’s Journey To A Rare Disease Diagnosis

Imagine if what you thought were common features of aging were actually signs and symptoms of a life-threatening disease? That’s what happened to Randy. Randy, a 75-year-old man originally from Trinidad and Tobago, now living in New Orleans, was diagnosed with a hereditary form of transthyretin amyloid cardiomyopathy (ATTR-CM). ATTR-CM is a rare but life-threatening condition that is associated with heart failure.1,2 While he reached a diagnosis in 2018, the start of his symptoms date back to 2004.

As a retired professor of Modern Languages, Randy’s initial symptom of carpal tunnel syndrome seemed to be linked to his profession as he was connected to a keyboard for a majority of the workday. However, he began to notice tingling in his extremities, lack of stamina during his routine jogs, and shortness of breath. To Randy – and to many others with his condition – these symptoms were seemingly unrelated. Eventually, as his symptoms progressed, Randy realized that something was amiss, prompting him to continue following up with his doctor.