The unexpected diagnosis of a rare condition of the heart, Long QT Syndrome, in my newborn son led to a crucial discovery for our entire family, highlighting the exceptional care and life-saving expertise at Cook Children's.

In November 2023, my twins, Nellie and Julien, were born. Nellie was 4 pounds and 10 ounces and we thought that Nellie would be in the NICU due to her size. It turns out it would be my baby boy, Julien. About 36 hours after their births, we were preparing to be discharged when the hospital’s pediatrician came to our room and did one last checkup on Nellie and Julien.

She said that something did not sound right with Julien’s heart and she ordered an echocardiogram; the results were sent to Cook Children’s. About an hour later, the doctors said that Julien would be transported to the Cook Children’s NICU via Teddy Bear Transport ambulance. 

Those first few hours were scary, but soon we received answers and a diagnosis at the NICU. Julien had an issue with the electrical part of his heart and was diagnosed with non-sustained ventricular tachycardia (arrhythmia). He was found to have Long QT Syndrome, a rare condition where signals in the heart take longer than normal to reset, causing a prolonged QT interval on an electrocardiogram (ECG). This can lead to potentially life-threatening irregular heartbeats, possibly resulting in fainting or sudden cardiac death if left untreated.

Through genetic testing, we found that Nellie and I are also carriers of the LQTS gene and I had passed it to them. I had not experienced symptoms of this congenital condition in my 30 years. Growing up, I was always participating in either track, basketball or soccer.

Our genetic testing showed that we are type two out of three, which means our trigger is “startle,” like a fire alarm or extreme event. The other types can be triggered by exercise or sleep.

Following the diagnosis, all three of us take daily beta blockers, a medicine to assist our hearts. The beta blockers reduce the risk of cardiac events by lowering the heart rate and stabilizing the electrical activity in the heart. Our beta blockers protect us and we don’t have to be concerned about our trigger. If left untreated, LQTS could result in fainting or sudden cardiac arrest. We also have to be careful with medicines entering our system which may prolong the QT, especially in an emergency.

We are considered low-risk, so luckily our daily activities are not limited. Some people with higher risk may reconsider daily activities like high-intensity sports, per their cardiologist. 

Julien was in the NICU for 11 days, and Nellie spent most of her days as a visitor to the NICU. We learned how to be twin parents and juggled one newborn in the NICU and one who wasn’t. We were grateful for the support of Nellie too, some nurses would come by and say hi to her as well and shower her with love.

My husband and I are grateful to Julien’s entire care team at the NICU and for his team at Cook Children’s Heart Center for their expertise in this condition. From Julien’s quick diagnosis to the family-centered care, we knew that we were in the best place that we could possibly be.

My family appreciated Cook Children’s because of the stories I shared with them as a member of the Public Relations & Communications team, but we all had a deeper sense of gratitude for the excellent care teams who took care of Julien as if he were their own. My family was impressed with the support we received, from the lactation consultants to Child Life to the family lounge, and their favorite, the AngelEyes camera, so everyone could check on our little Julien.

Nellie and Julien visit regularly with Cook Children’s Cardiology. After our genetics tests, we visited Cook Children’s Genetics. We are grateful for Candace Gamble, M.D., because she added another perspective as well: Had Julien not experienced an arrhythmia, all three of us may not have ever been diagnosed.

The neonatologist at the birthing hospital said that we were lucky that Julien’s arrhythmia and LQTS were discovered in the hospital before we were sent home.

Our takeaway from this experience is that we had the right people in the right place, at the right time and Cook Children’s has been with us every step of the way.

When Julien entered the world, he may have just saved Nellie and I’s place in it.