Can you tell me a little bit about your ARVC journey – from diagnosis to where you are today?
I had my first symptom of ARVC at 16 years old when I passed out. My mom called the doctor and he said I was a young, healthy, athletic woman who must have had low blood sugar. I didn’t think about that event again until my older sister was twenty and went into VT. She spent a month in the hospital and was very sick, and was ultimately diagnosed with ARVC. We learned that it was genetic, and she remembered that I had passed out as a child. I was in college at the time, and went to a clinic near the campus in Minneapolis, where they referred me to a doctor in Minnesota who was doing research on ARVC back in the 1990s, before it was more widely known.
At the time, I didn’t fit the criteria for diagnosis, so the doctor followed up with me for a few years. When I was 26, I had a sharp decline in heart function. I was actually diagnosed with heart failure before I was finally diagnosed with ARVC at 27.
What are some of the biggest challenges you’ve faced after diagnosis?
Two particular moments stand out to me. The first is after I had my daughter, when I went into heart failure. She was a few months old when I learned that my doctors were recommending that I be listed for transplant. It was the first time I’d had to consider what transplant would be for me – and with a young baby. That was a really tough time – even tougher than when I was first diagnosed. A similar moment was when we moved to Minnesota to be closer to the doctors who could help me stay off the transplant list. I told my doctor in the first meeting that my goal was for my daughter to graduate high school before I had my heart transplant. And he looked at me, and he looked very sad, and said that was an ambitious goal.
The other moment that stands out to me was two years ago in April, when I started going through the workup to join the transplant list. I went through twenty appointments, so many tests, and everything was going well. Then I got a ping on my phone and saw that my UNOS antibody test had come back. It was at 93%. I was really sad, because I felt like I had been fighting for so long and now knew things would get tougher.
What advice would you give to someone who was newly diagnosed with ARVC?
Allow yourself to be sad, and grief. The process of acceptance and grieving, adapting and changing, happens over and over with this disease. Reach out for help, but also know that it’s okay to let your body feel the grief.
Find an electrophysiologist who has experience treating ARVC and is familiar with the ARVC research from Johns Hopkins. This is a rare disease and requires specific knowledge to treat it appropriately.
What is the top thing you want to convey to the FDA during the PFDD meeting about ARVC?
I would like the FDA and other stakeholders to get a grasp on the breadth of challenges people with ARVC face. They’re not all the same, we all have different medical issues – even within my family tree, three of us have all had very different journeys with our diagnoses.