One Man’s Journey To A Rare Disease Diagnosis
Content sponsored by Pfizer Inc.
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.
At first glance, Randy’s doctor attributed his shortness of breath to chronic obstructive pulmonary disease brought on by heavy smoking during his youth as well as the poor air quality in New Orleans. While this diagnosis may have been an explanation for Randy’s breathing problems, the other symptoms he was experiencing didn’t quite add up. Struggling to reach a proper diagnosis, Randy became increasingly frustrated and uncertain as to what was causing his health to deteriorate.
One day while climbing the stairs at his daughter’s townhouse, Randy was visibly having a lot of difficulty. By taking one look at him, his daughter knew he was in distress and rushed Randy to the ER. After receiving multiple diagnostic tests, he learned that he had congestive heart failure and the walls of his heart were stiff. Most ATTR-CM patients are diagnosed through a number of tests, including cardiac biopsy or nuclear scintigraphy (in addition to blood and urine tests). As part of Randy’s diagnostic testing, his cardiologist also gave him a genetic test, which helped inform his diagnosis of hereditary ATTR-CM.