On World Heart Day, we are celebrating Heart Heroes … people from all walks of life who have shown commitment, courage, empathy, and care in relation to heart health.
“My promise for World Heart Day is to help increase awareness of transthyretin amyloid cardiomyopathy (ATTR-CM), a uniformly fatal disease, to ensure early diagnosis and treatment so that people like my father have more time with their children and grandchildren.”
I am a pediatrician by training and came to work in the pharmaceutical industry about 20 years ago, largely because it gave me the opportunity to help more than one person at a time. Working in the bio-pharmaceutical space offered me the potential to help patients with diseases like transthyretin amyloid cardiomyopathy (ATTR-CM), a devastating universally fatal condition, who were in desperate need of therapy. In 2011, we were looking at a small biotechnology company that was advancing an investigational treatment for a related rare form of amyloidosis.
From a personal point of view, it became clear to me that my father, in his early eighties, was showing early signs that could potentially be related to amyloidosis. When the amyloid protein occurs, it can deposit in many tissues causing conditions like carpal tunnel syndrome and spinal stenosis before there are signs of deposits affecting the heart. In my father’s case, these symptoms immediately raised a red flag for me. Interestingly, he had a heart attack in his 50s, so he was already being treated by a cardiologist for Coronary Artery Disease. And because of this prior diagnosis, there would have been no reason for anyone to suspect something like ATTR-CM.
I then spent nine months bombarding my father with information and tried to get him to speak with his doctor about undergoing the diagnostic test for cardiac amyloidosis. As with many older patients, he was hesitant to push. When he subsequently tore his bicep tendon, another sign of amyloid deposits, I reached the point where I was frightened. Every month a person isn’t diagnosed is a month where the disease is going untreated, so I pushed harder and he, along with his doctor, agreed to have the diagnostic test for ATTR-CM performed.
The clinic where my father was being followed had never run this test before because the diagnosis for ATTR-CM most often takes place in specialized centers. The test results were evaluated remotely by specialists in New York, and in June of 2018, he was confirmed to be positive for ATTR-CM. I feel in my heart that this will make a difference for him, as he has been diagnosed early. I am grateful to the scientists, investigators, patients, and the team at Pfizer, who have helped us to continue our research and raise awareness of this rare and significantly underdiagnosed heart condition.
My promise for World Heart Day is to increase awareness of ATTR-CM, a uniformly fatal disease, to ensure early diagnosis and treatment so that people like my father can have more time with their children and grandchildren.
