Today’s post comes from Kayla Bassett, director of product at Truveta. She shares her story in recognition of Rare Diseases Day and American Heart Month.

It’s hard to pinpoint when our journey as a family with a rare heart condition began. The diagnosis never felt like a precise moment in time—more a series of events over several years. Our story is one of the importance of routine screenings, self-advocacy in health systems where poorly understood conditions are easily overlooked, and navigating life with a condition that can look very different from person to person.

On Rare Diseases Day and the last day of American Heart Month, I share my story of gratitude, which led me to Truveta. We are a Long QT family (Long QT syndrome is a disorder of the heart’s electrical activity), but we are lucky to know we have it and have access to amazing care to manage it.

The beginning of our journey

My husband’s abnormal heart rhythm was first identified in a routine electrocardiogram. He was beginning his career in the Army, and what should have been a perfunctory check triggered a chain reaction that would forever change his life. At the time, the abnormality seemed trivial — a “prolonged QT interval.” In an EKG, the QT interval represents the time it takes for your heart to contract and refill with blood before it beats again. His interval was a mere 20 milliseconds “too long.” He was diagnosed with a rare condition called Long QT syndrome. That seemingly short period of time—20 milliseconds—can be the difference between a normally beating heart and a life-threatening arrhythmia. The diagnosis precluded him from a few military jobs, but he could still perform the Army physical fitness test. So, despite the risks, he was allowed to serve, and the abnormality was largely dismissed at the time.

When we reflect on his life and our journey, this is the first of many moments where we feel really, really lucky. We knew Long QT syndrome could be genetic or acquired, but we didn’t know what caused my husband’s condition. We also didn’t realize at the time that Long QT is an exceedingly complicated syndrome that can be triggered in a variety of different ways. For some people, sleep can trigger a cardiac arrythmia. In others, it’s exercise or extreme excitement. We feel thankful for having lived very normal, uneventful lives with this untreated condition despite the grave consequences of an arrythmia—the triggers for which we did not understand at all.

Growing our family

Knowing we could have an inherited condition in our family, we requested a genetic screening when I was pregnant with our oldest son in 2017. Military medicine is wonderful for many reasons, but we were denied this screening—largely due to unfamiliarity with Long QT and its associated risks. We had our son, and he has been nothing but a pure delight for four years. I left the military in 2019 and became pregnant with our second child in 2020.

With our second pregnancy and under the care of an amazing team at the University of Washington, my doctor took note of my husband’s condition and ordered us both genetic screenings to surface the source of his Long QT. Unsurprisingly, my husband had a genetic mutation associated with Long QT, and they were able to take his screening one step further by identifying the type of Long QT he had. This gave us two key pieces of information—an understanding of the specific triggers associated with his sub-type of Long QT and knowledge that we needed to test our kids for the same mutation.

Enter more gratitude. I’ve reflected many times on the moment my doctor unceremoniously ordered that genetic screening. I don’t think they understood why we thanked them so much. The difference between having to fight for a test we knew we needed and it just being available as a matter routine was staggering. We felt seen as patients living with this condition for the first time, and the impact was a series of tests that forever changed our family for the better.

My oldest son also has Long QT. Our youngest does not. We learned there are two ways genetic counselors deliver news. If it’s “bad,” they schedule a visit—in our case, a telehealth appointment. If it’s “good,” they’ll just call you. No video needed. Our oldest son’s diagnosis was a well-orchestrated event. The genetic counselor began by delivering the news, which was understandably crushing. While he lives a very healthy life, it was hard not to think about some of the things he’ll likely never do. The genetic counselor couldn’t answer questions about what was to come next for us and our son, nor did they need to. Immediately following the diagnosis, they transitioned us to a call with our son’s new cardiology team at Seattle Children’s Hospital. They were primed to talk through all of his near-term needs—a beta blocker as soon as possible, EKG, AEDs for school and home, triggers, risk factors…everything. They discussed the side effects we should expect in his first few weeks on a beta blocker—weeks that oscillated between intense tantrums, lethargy, and his typical cheerful self.

In that first call, we learned that Long QT can look very different from patient to patient—even between immediate family members. Our son’s Long QT could be much more or much less severe than my husband’s. Only monitoring over time would tell. We also learned what we avoided in our son’s early years and the importance of testing everyone in our immediate and extended family who could carry the mutation. Approximately 10-15% of all deaths attributed to sudden infant death syndrome (SIDS) are the result of undiagnosed Long QT syndrome.

Again, we truly are some of the luckiest ones. If you are going to live with Long QT syndrome, having access to care and the knowledge we have is how you would want to live with it. But it didn’t have to take this long to reach a diagnosis for my husband or son. They lived, for years, with an untreated but potentially fatal cardiac condition. And while we know their current treatments are effective, we can’t help but wonder what’s on the next horizon for treating Long QT or if there are options available today that would reduce their side effects while still managing their risks. The gratitude continues, though. We learned just last week that my husband and our son will be seen this summer by a world-renowned expert in the study of Long QT syndrome at the Mayo Clinic. This will open up so many opportunities for more advanced testing, tailored treatment plans, and potential access to clinical trials.

Helping families like mine

This is what inspired me to come to Truveta. Every day, I work to build the Truveta that will help families like mine who are struggling to reach diagnoses on little-understood conditions and who, even upon receiving a diagnosis, may spend years understanding their conditions and optimizing their treatment plans.

My husband and son are both healthy. They take beta blockers to reduce their risk, and we have AEDs at home and at our son’s school in the event they experience a severe arrythmia. We know some typical kid activities, like swimming lessons, are high-risk for our son. But because we know that, we have a great excuse to helicopter parent poolside. It’s still extremely important he learns how to swim. Life for our family is all about balance.

We do our best to appreciate every moment we share as a family, because we know after a long journey to diagnosis and treatment for Long QT, we are lucky to have one another.