My story would probably best be described as a roller coaster, with lots of ups and downs.

I grew up between two brothers, and we did everything together. We played from sunup to sundown – basketball, football and baseball, and we had a pool, so we swam constantly. Once I hit middle school and all through high school, I was in some type of athletics year round – cheerleading, basketball, track and volleyball. I enjoy being active and especially doing group sports and hiking.

In my late 20s, I got married and had five kids over the next eight years, which started with fraternal twins. During all of that time, I had no obvious symptoms. In 2015, I developed unexplained chest pain, which would sometimes last for weeks and then just disappear. I went to multiple specialists and even had a full cardiac workup – echo, stress test, Holter monitor. Even after all that, there was not a good answer for my chest pain and the only information I really took away was that I had inverted T-waves.  But no one seemed concerned about it.

Over the next few years, I’d still get those pains periodically. And sometimes I’d also get dizzy, or feel like I was going to blackout. But nothing chronic or frequent enough that I felt like I needed to get professional help. Then, during the height of COVID, I had an episode just standing out in my driveway. My heart was racing for no reason and I almost blacked out.  I was scared, it drained all my energy and I just knew something wasn’t right. 

I didn’t want to go to a doctor’s office with COVID raging, but it was scary enough that I sucked it up,  met with the cardiologist and started the whole process over again. We went through another battery of tests and this time the Halter monitor came back with what the doctor referred to as infrequent extra electrical impulses, but he wasn’t really worried about it.  I was young, I was seemingly healthy, and there wasn’t anything obviously wrong and he sent me on my way.  It seemed like he didn’t know what else to tell me and I left frustrated.  I didn’t even know what to advocate for at this point so I just gave up again.  The only other thing I could think of was that maybe this was a mental health issue, like depression or anxiety.  It had never been mentioned by anyone but I knew something was wrong and felt like there were no answers available to me.

Fast forward a few years, and December of 2021, I had the most catastrophic event I’d ever had. It was a few days before Christmas, and I was in the kitchen wiping things down. And I almost blacked out, and I tried to take some deep breaths but I was starting to panic because I knew something was wrong. I called 911, and the EMTs hooked me up to an EKG, which found an abnormal pattern. My heart rate was 220 by the time we got to the hospital, where they ruled out any emergent causes,  said it was something electrical and forwarded me on to an electrophysiologist.

The EP was pretty dismissive, and said the same things I’d heard from other doctors: that I was young, that my history didn’t look too bad, minus this last more concerning episode. He saw the extra electrical impulses from the Halter monitor years ago and again on my hospital readouts.  He said if it would make me feel better, we could do another halter and a cardiac MRI. I remember that phrase – “if it would make you feel better.”

So, without much hope, I scheduled the cardiac MRI and reached out to another EP. I was very discouraged at this point – it’s hard to go home and say, you remember when I went to the ER? I still don’t have any answers. Something’s wrong but we don’t know what it is, and nobody can tell me anything.

The cardiac MRI was really tough but it proved to be the thing that I needed to complete the picture and finally move us toward a diagnosis.  I met a different EP who looked over all my history, starting with the MRI, which showed a small amount of scar tissue. All things considered, he told me I had a 50/50 chance of having Arrhythmogenic Right Ventricular Cardiomyopathy, or ARVC. I’d never even heard of it but he made it seem manageable with an ICD and hopeful, even.

He forwarded me on to the genetic cardiologist and was tested for gene mutations associated with ARVC.  It came back positive for ARVC on the PKP2 gene. A month later I had an ICD placed, which was very hard for me – having something foreign in my body and quite honestly I felt a lot of grief and even denial about the whole thing.   But I know I don’t want one of my children to have to give me CPR or to be stuck somewhere without anyone to help, knowing that I could have done something about it.  That’s what pushed me to get to go through with it in the first place. 

I appreciate that there have been so many advancements and headway made in the last twenty years.  I have so many more resources to draw on because of it. But it’s a disease that’s very hard for people to understand. Blockages and heart attacks people have a point of reference for, but understanding an exercise-induced heart problem is just confusing.  That’s been a hard part of this roller coaster: trying to maintain my own personal validation when I’m not receiving external validation. It was also really hard telling my five siblings that this condition is genetic, and that they needed to get tested. I also had to tell my Mom and have my children tested and I waded through a lot of heartache and sadness surrounding this as well. 

Since that episode last December, some symptoms have gotten worse – and maybe some just more recognizable for what they really are; part of a progressive, genetic heart disease. Even saying that outloud is still a challenge.  And it’s all part of that never-ending rollercoaster: sometimes I feel fine; but tomorrow, I could start having chest pain or shortness of breath, etc.  Because ARVC doesn’t run a standard course for everyone, there’s no set timeline or way of knowing what’s coming next. 

Part of the reality of this journey is recognizing that I need a solid team of people around to help me through this – ARVC patients need solid professionals, good nurses, doctors, people to support us through all of the unknowns and give us hope and options for coping with the hardships, pains, and questions along the way.  It’s too heavy to try and do this journey alone.

Learn more about the SADS Foundation’s resources for families with ARVC here.