Melanie was diagnosed with ARVC (Arrhythmogenic Right Ventricular Cardiomyopathy) after experiencing ventricular tachycardia – a fast, irregular, and dangerous heart rhythm – in 2021. But that was just the beginning of Melanie’s heart journey.

Melanie experienced symptoms of ARVC –  like chest pain and pressure – for six years before her initial visit with a cardiologist, who dismissed her symptoms. She received her diagnosis only after experiencing ventricular tachycardia. “It was the first time I’d ever even heard of ARVC,” says Melanie.

She had an ICD (implantable cardiac defibrillator) implanted ten years after experiencing her first symptom, and underwent genetic testing; she tested positive for the PKP2 mutation for ARVC.

When Melanie first got her ICD, her doctors told her it was an “emergency preventer.” But the following December, Melanie experienced a severe shock storm (or series of back-to-back shocks) from her ICD while shoveling snow before taking her kids to tumbling practice. “I stepped in the car after shoveling and felt the initial shock – my first ever,” she says. “I didn’t know what had happened. Another one came, and I wondered if I should call the doctor. They just kept coming, and I called 911.”

She was shocked 34 times over the course of the storm, and the ICD tried to pace her out of the rhythm 56 times. Some of the shocks overlapped, causing extreme pain. Once the EMTs came, Melanie asked them how they planned to stop the shocks. The EMTs said that they didn’t know, and Melanie’s five kids watched as she screamed with every jolt.

Melanie has been recovering from both the physical and mental aftermath of her shock storm ever since. “Nine months later, I can say I have gratitude for the ICD going off, for doing what it was supposed to,” she says. “But at the time of my storm, it wasn’t comforting to hear that.”

“I’d heard that ARVC is progressive but I didn’t recognize how much loss I would face, because everyone’s journey is so different. No one can tell me what comes next and that can be blindsiding.”

The grief that has accompanied Melanie’s diagnosis of ARVC is related to what she calls “pivoting”; she’s found herself working to accommodate new symptoms as her condition progresses. “I’d heard that ARVC is progressive but I didn’t recognize how much loss I would face, because everyone’s journey is so different. No one can tell me what comes next and that can be blindsiding,” she says. “Between my mental and heart health I’m on nine medications. One of the medications I’m on is something I can’t stay on for a long time, so I know things will pivot again when I have to go off of it.  And no one knows what that will bring.  Ambiguity is a heavy weight with ARVC.” In May, Melanie was listed for a heart transplant – another major milestone and “pivot” in the progression of her condition.

Melanie shared her story as part of the discussion panel at the SADS EL-PFDD for ARVC in June of 2023, where the FDA, biopharma companies, researchers, and other stakeholders gathered to hear about the critical need for improved treatments for those with ARVC, sponsored by Tenaya Therapeutics. Tenaya Therapeutics is working to discover and develop new medicines for heart diseases, including a potential gene therapy candidate for PKP2-associated ARVC.

In the future, Melanie hopes new, improved treatments will be available for her eldest daughter – who is also PKP2 positive. “I have hope that in five or ten years, we may see new options that could save her from all of this,” she says. “There’s been a lot of progress in research so far, and because of that, I can hold on to hope for my daughter.”

We are grateful to Tenaya Therapeutics for sponsoring ARVC Awareness Week.