Can you tell me a little bit about your ARVC journey – from diagnosis to where you are today?

I had my first symptoms years before my event. I did a VO2 test once, while I was doing triathlons, and a strange heart rate result came back – but because I was young and healthy, they thought something was wrong with the machine, not with me.

Weeks later, I saw an electrophysiologist (EP), and actually had a cardiac MRI to rule out arrhythmogenic ventricular cardiomyopathy (ARVC) – this was in the late 1990s – and he said it came back clear, that I just had some idiosyncratic PVCs. He said I’d probably had them since I was a baby, and that my body knew how to adjust to them.

About ten years later, I collapsed and had a serious event – and was in severe ventricular tachycardia (VT). My heart rate was recorded at 285 beats per minute, and even went up to 310 at one point. I’m very lucky to have survived. After that, I was diagnosed with ARVC.

Because I was young and healthy when I was having symptoms – like lightheadedness – I believed it was dehydration or overexertion, or that I hadn’t eaten enough. The solution to everything I felt at that time was rest, hydration and a banana. My symptoms would always pass, and I would never think too much about them. I’m pretty sure I also had a VT episode in the water during an open ocean training swim – I couldn’t catch my breath, and had to turn around and get out of the water with the assistance of another swimmer – so I am lucky that there was someone nearby to help.

What are some of the biggest challenges you’ve faced after diagnosis?

The biggest challenge was losing my mom to ARVC a few months after my initial cardiac event. An equal challenge was having both of my (then teenaged) sons test positive for ARVC. Having other family members affected with ARVC was so much harder than just having ARVC. That’s the challenge of having a genetic disease – you’re trying to manage it for yourself, and then you find out those you love have it too. That adds another level of worry.

Six months after my diagnosis, I learned that my mom also carried the genetic marker, and she died shortly after that – after going into ventricular fibrillation. My sons tested positive for ARVC shortly after, and it felt like the hits just kept coming. That was the biggest challenge psychologically – physically, the effects of the damage to my heart from defibrillation, repeated VT, and medication has added to the challenges.

What advice would you give to someone who was newly diagnosed with ARVC?

If you ever have to be diagnosed with a condition like ARVC, I can’t think of a better time in history, or a better place, for it to happen. We have so many treatments: medications, ICDs, surgical procedures – and we’re on the brink of significant advances in genetic treatments. I feel lucky, because even though ARVC is relatively rare, there is so much time and energy spent on researching new treatments, and I am often humbled by how much time and dedication has gone into studying ARVC.

The most dangerous thing about ARVC is not knowing that you have it. Once you know you have it, you’ve fought half the battle.

What is the top thing you want to convey to the FDA during the EL-PFDD meeting about ARVC?

Spreading awareness is certainly admirable – and it’s where we want to start. But it’s not enough. Quality of life is crucial to people living with ARVC, especially because this disease affects otherwise healthy young people. We need to focus on treatments that will allow people to have a high quality of life, to live a good life, not only to survive but to thrive.