Leading up to the exciting launch of the Genetic Cardiomyopathy Awareness Consortium during our March 8th webinar, we thought it fitting to share Andrea’s story of learning that she has genetic DCM and how this has potentially saved her life…
Andrea was recently diagnosed with genetic DCM at age 40, despite not having any symptoms. Andrea’s family experience with DCM started when her father was diagnosed with a reduced ejection fraction in his late 30s. For decades he lived an energetic life —running three miles a day until his mid-60s—with asymptomatic DCM. He passed away at age 76 from heart failure.
While her father received quality care from a top hospital, to Andrea’s knowledge, there was never a discussion of a genetic cause or family screening. Similarly, Andrea had shared her family history with doctors over the years but was never referred to a cardiologist.
Two years ago, when Andrea visited urgent care for an unrelated issue, the doctor happened to suggest that Andrea see a cardiologist, given her family history. When the visit to the cardiologist resulted in an abnormal ECHO, Andrea was referred to a specialist for further testing and, ultimately, a familial DCM diagnosis.
Andrea is grateful for the series of events that led her to informed doctors and great care. She continues to lead an active lifestyle–now with an implantable cardioverter defibrillator (ICD) to help mitigate the risk of arrhythmias associated with DSP, the genetic variant she carries.
However, it is not lost on her that her diagnosis came by chance, not through systematic screening.
She is “thankful to have found the DCM Foundation”, and “is passionate about their mission to raise awareness around the need for genetic testing among families and the medical community.”
It is Andrea’s hope that more people will be screened to protect their health and drive DCM research and treatment. To learn more about the exciting launch of the Genetic Cardiomyopathy Awareness Campaign, please click here.