Eleanor’s Story: The Tiny Heart That Changed Everything
In 2020, at just 24 weeks pregnant, Lena faced the devastating fear that her baby, Eleanor, was in heart failure and might not survive.
Lena and her husband Sixtus were in complete shock and devastation. Determined to seek the best care, they drove seven hours to Wisconsin to consult with an electrophysiologist specializing in fetal cardiology. It was there that they discovered Eleanor was actually experiencing Torsades de Pointes. Instead of the originally prescribed steroids, Lena was placed on beta blockers to stabilize Eleanor's heart rhythm. The specialist also enrolled Eleanor in a research study focused on detecting arrhythmias in fetal patients.
"That was the first time we were told about the potential of Long QT Syndrome.", recalls Lena.
They drove home that night and went straight to the hospital so that Lena could be admitted and transitioned off of the steroids and onto beta blockers. She was placed on the highest possible dose for a human so that the medication could reach Eleanor and keep her heart rhythm stable. Because of this high dose, the pharmacy was hesitant to give her the medication, requiring intervention from their cardiologist to approve it (a problem many LQTS patient encounter!).
Eleanor was born at 36 weeks, weighing only 4 lbs 7 oz. Genetic testing confirmed the suspicions—she carried mutations for both LQTS Type 1 and Type 2.
Through this discovery, Lena was also diagnosed with LQTS Type 1 at 31 years old, having lived unaware of her condition. "She inherited LQTS Type 1 from me, while LQTS Type 2 was a de novo gene mutation. I like to tell people that she truly saved my life."
In her four years, Eleanor has undergone numerous interventions to control her heart rhythm, including a pacemaker (later replaced with an epicardial AICD), left cardiac sympathetic denervation, and treatment with beta blockers and Mexiletine. In the past two years, she was also diagnosed with both epilepsy and cerebral palsy. Navigating appropriate medications that are safe for her has been incredibly difficult, and identifying seizure triggers is a constant source of stress.
Reflecting on how Long QT Syndrome has impacted their family, Lena admits that she often forgets about her own diagnosis.
"I just have to be sure to follow my advised standard of care," she says. Her main focus remains on navigating the challenges of allowing Eleanor to simply be a child. Eleanor attends a specialized daycare with nurses in every room, and even her babysitters are nurses.
Despite the support, Lena acknowledges how difficult it is for others to grasp the complexity of Eleanor’s condition. "People don’t always understand how fragile her health can be. A simple cold or stomach bug can trigger serious rhythm issues. Life can change in the blink of an eye."
A typical day for Eleanor begins at 7:30 a.m. with breakfast and medications before heading to her specialized daycare, where a nurse is present in her classroom to help care for her. At 3:00 p.m., she takes her second dose of medications and continues her day playing with friends and eating snacks. At night, Eleanor takes her seizure medications before bedtime at 7:30 p.m. However, her parents must wake her up at 10:30 p.m. for another round of medications. These frequent wakeups and the need to monitor her oxygen, heart rate, and movement for epilepsy disrupt not only Eleanor’s sleep but also that of her parents and her brother. The exhaustion from balancing medication schedules and constant monitoring takes a toll on the entire family.
The constant worry and anxiety often feel isolating. "We don’t leave her often because we fear what could happen."
But through it all, Eleanor is a joyful and vibrant four-year-old. She loves Frozen and all things Elsa, Anna, and Olaf. She delights in dance class with her friends and spreads joy to those around her.
Lena and her family remain optimistic about the future.
"There is hope on the horizon. This community is strong, and we won’t stop until we find the best and right treatment for LQTS. Our family has such a desire to advocate for patients with LQTS and raise awareness about this condition. We would love to do more, but right now, we are doing what we can. By sharing our story, we hope to make a ripple in the awareness of this condition and bring to light how this affects people's daily lives."
To learn more about Long QT Syndrome, visit The SADS Foundation website at: www.sads.org.
Author: David Hutton.
