ARVC Advocacy

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is considered a rare disease. Typically cardiac treatments are developed for the masses and not rare genetic conditions. So building awareness about ARVC is important to me. Right now I am not working which is great for my body and heart. But not for my mind. I have been lucky to participate and stay a little busy with some research and advocacy efforts. Most of my projects have been done from home which works well with my heart failure limitations.

I am currently working on a project with the SADS (Sudden Arrhythmia Death Syndromes) Foundation. They advocate for research and awareness for rare cardiac conditions like ARVC. In the past I participated in patient education panels about ARVC and heart failure. My current project involves telling my story to the FDA so they can gather information about the patient experience when considering approving new drugs and devices. You can learn more about the SADS foundation here.

I have also worked with biomedical companies developing a gene therapy for my specific ARVC gene – PKP2. There are currently 13 different gene mutations that cause ARVC. PKP2 affects the largest number of people which is why they are initially focusing on this gene. I was interviewed and photographed for a book that will be used to build awareness and fundraising for the gene therapy development.

I have also done market research panels to inform the biomedical companies about limitations and considerations for patient trials and also for administering the therapies.

Many years ago I spoke at Medtronic’s Safety Day about living with my ICD and my experience when one of my leads cracked and needed to be replaced. While replacing a lead doesn’t sound like a big deal, you should know leads are not meant to be explanted from the heart. The lead literally screws into your heart tissue and then scar tissue forms around the lead. Lasering the lead out is a very risky procedure for someone who already has a thin heart wall. So I told my story so the employees understand what a product fail means to the patient.

Let me know if you have any questions about ARVC! I am happy to answer any questions.