A normal summer day at the pool turned into a rare genetic heart condition diagnosis for thirteen year old Ishani.
After feeling dizzy, Ishani visited with her doctor, who said she probably had low blood sugar – and suggested she have an energy drink.
Two days later, she went to the pool with friends but when she returned home, she started to experience fainting episodes (which was actually syncope). Her mom knew something was wrong, and decided to sleep next to her that night to keep an eye on her.
“Around five in the morning, she woke up and saw I looked really bad; she tried to wake me up. I wasn’t responsive for a few seconds, but then I heard 911 say, how can we help you?” says Ishani. The next thing she knew, Ishani was in an ambulance.
In the hospital, Ishani’s syncopal episodes were assumed to be a seizure disorder. But Ishani was lucky, because the technician who ran an EKG on her heart noticed that something wasn’t quite right. “I was transferred to Children’s National Hospital and Dr. Charles Berul,” she says.
Dr. Berul, a pediatric electrophysiologist (heart rhythm specialist), remembers his first consultation with Ishani very well, in part because she had a life-threatening arrhythmia occur on the monitor right in front of him. “In my 30 years as an electrophysiologist, I had never directly witnessed the onset of this arrhythmia (called ‘Torsades de Pointes’) while a patient was sitting right in front me!”
Ultimately, he diagnosed Ishani with Long QT Syndrome, a disturbance of the heart’s electrical system. This genetic condition is caused by abnormalities of microscopic proteins in the heart cells.
Dr. Berul put an implantable cardioverter defibrillator (ICD) in Ishani, which is a device that helps regulate abnormal heart rhythms she may experience in the future. “I had to spend a few days in the hospital while they did the surgery,” says Ishani, “but the ICD is a reassurance and a backup plan for me.”
Ishani was also put on a medication called a beta blocker. “I do have to take medication, which is a new responsibility. I feel side effects from it like tiredness,” she says.
“With this diagnosis, I can do most things but sometimes have to be more careful; I can’t go on as many rides (like roller coasters). I don’t have many other limitations, and I’m lucky to have a diagnosis and a good care team.”
For those who are newly diagnosed with a condition like Long QT Syndrome, Ishani wants them to know that there are resources available to help. “Our team at Children’s National has been incredible and we’re very grateful for resources like the SADS Foundation,” she says. “Ask questions, live your life like normal, and keep moving forward.”