Sometimes the Heart is Just the Start

Diagnosed with aortic stenosis at just three days old (and mitral stenosis later in my childhood), I grew up knowing the tedium of regular check-ups with a cardiologist. I appreciated the thinly veiled enthusiasm my parents would exude over a day off as a family, consisting of six to seven hours driving to and from the hospital. And I reveled in the freedom of college, where I could reinvent myself as someone who didn’t have a heart problem and could party like the rest of ‘em.

But as I got older, the pesky CHD label never completely wore off, and at 33 years old was informed that I needed to prepare myself for open heart surgery. Once out of surgery, I was “fixed.” For seven days I recovered rapidly—meeting the challenges of the nursing staff between naps and my hospital’s above average meals. Until the eighth day.

On the eighth day, I woke up with complete heart block. The healing process had disrupted my AV node, and I was wheeled back in for an emergency pacemaker. Scar tissue has always been an issue for me—in addition to the ones on my chest I get random keloid scars all over my back—and now it was functioning as a circuit breaker in my heart’s wiring. So off I went to the combined dermatology/genetics clinic to see whether there might be a connection there.

As it turns out, my mother and I, as well as a cousin and her son, share a genetic mutation on the X chromosome (FLNA, if you’re interested) that affects collagen production, among other things. This mutation impacts heart valves, joints, the GI tract, etc. Suddenly, my CHD was a manifestation of a larger issue… and no longer my identity. Perhaps shocking to some—I felt cheated. CHD was something I had grown up with. It was what made me unique. For all the days that I had wished it away, now I wasn’t sure how to see myself without it.

Over the past year, I’ve found my pill caddy full of not just blood thinners and beta blockers, but also an immunosuppressant that reduces the itchiness and pain associated with keloids, and I’ve gone back under the knife for scar excisions followed by multiple low-dose radiation treatments and months of regular bandage changes. My geneticist has found another family with the same genetic issues halfway across the United States, leaving me to wonder—do I now have a new (much smaller) community to identify with?

It didn’t take long to realize that nothing had really changed. I still had CHD. And I still need to focus on living a heart healthy life, with continuity of care by a qualified congenital cardiology team. I’ve realized that though I may have a genetic issue that affects my body in various ways, I know for a fact that my heart remains the top priority. Without my heart, genetics are the least of my concerns. Sometimes… the heart is just the start.

If you know that your CHD is part of a larger issue, how did you reconcile that information when you found out? Do you prioritize your symptoms and focus on those that impact you most, or do you continue down the medical rabbit hole to try to find as many answers as possible?