Recent high-profile cases of sudden cardiac arrest are bringing attention to rare forms of hereditary heart disease this National Heart Month (February). However, you don’t need to be famous to learn and advocate for heart health.
Take it from Julia – who was diagnosed in 2020 with Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC), a genetic disease of the heart muscle, after experiencing a Sudden Cardiac Arrest (SCA) while running to catch a train.
A Harrowing Experience
In February of 2020, Julia and her friend Joel ran to make the train in Santa Rosa, California. As soon as they got through the train doors, Julia started to feel faint; Joel was able to help Julia off the train and call 911.
In the hospital, ER doctors saw that Julia was in ventricular tachycardia (VT), a fast and dangerous heart rhythm. Doctors were able to get her back to a normal rhythm with a defibrillator.
Julia was transferred to another hospital, where an electrophysiologist (a specialist who focuses on heart rhythm abnormalities) put her through tests to try and find answers. She was diagnosed with ARVC, and doctors put in an implantable cardioverter defibrillator (ICD) to help protect her from further dangerous arrhythmias.
Understanding Hereditary Heart Disease
Since then, Julia has been involved with advocacy efforts to help make others aware of ARVC and SCA. An important part of Julia’s advocacy – and her journey with ARVC – was learning about the gene that causes her ARVC, called PKP2.
Julia got genetic testing soon after her ARVC diagnosis – and was guided by her genetic counselor, Sandy Woo, LCGC, through the process. “Genetic testing was pretty straightforward,” says Julia. A week after she received her results, she met with her genetic counselor to learn more about what the results meant for her and her family.
Julia is grateful to her genetic counselor for helping her walk through the process. “Being able to talk about what’s going on is so helpful,” she says, “especially for rare diseases, where there’s not a lot of information available. It was such a positive experience – she helped me understand what the medical terms associated with my genetic variant meant for me now, and what my genetics might mean for me in the future.”
Julia wants those who’ve survived an SCA to know that they are not alone. “There will be times where you feel alone, but know that it’s a passing moment,” she says. “Lean on your community – there are so many people who want to help, and organizations that can help support you through it.”
For more resources on genetic testing for SADS conditions, click here. To learn more about genetic counseling, and connect with a cardiac genetic counselor, click here.
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