Nicole was diagnosed with Long QT Syndrome Type 1 at birth. Today, she’s in her last semester of medical school – and hopes to help others with rare diseases and disabilities access the support and expert medical care she received as a child with a SADS condition.
Nicole’s mother experienced symptoms of LQTS throughout her life: she was an athlete who’d fainted 15 times, including while swimming and running. Doctors thought that she had epilepsy. During pregnancy, Nicole’s mother experienced complications related to her undiagnosed LQTS. Concerned about her symptoms, her father (Nicole’s grandfather), an OB-GYN, asked her to fly to Puerto Rico so he could monitor her symptoms. Nicole was delivered by emergency c-section in Puerto Rico.
Nicole had a slow heart rate in utero, and that slow heart rate persisted after birth. “I was referred to an electrophysiologist that I still see to this day – Dr. Jorge McCormack,” she says. “I was diagnosed at three months old. LQTS was traced to my mom.”
And Nicole’s mom wasn’t the first in their family to have symptoms of LQTS. Their family tree revealed several others who’d experienced Sudden Cardiac Arrest. “We got involved in genetic research very early on – in 1997,” says Nicole.
Nicole’s mom was a huge advocate for Nicole and her two sisters (who also have LQTS). “She wanted to give us a normal childhood and upbringing – yes, we were different, but LQTS didn’t define us,” she says. “I always felt very supported.”
Her experiences with expert care, and her mother’s continuous advocacy, made Nicole interested in joining the medical field – and focusing on disability advocacy. She’s in her final semester of medical school at Brown University, and has matched into a combined residency in Internal Medicine/Pediatrics at Brigham and Women’s and Boston Children’s hospital, with an interest in pursuing Adult Congenital Heart Disease in the future.
“My support systems meant that my experience has overall been positive despite my diagnosis,” she says. “But the more I progressed through medical school, the more I understood how vital it is to treat patients holistically. I’m in a unique position of knowing what it’s like to grow up in a medically and socially supportive environment.
When you present with a sudden death syndrome, there’s a stigma that follows the diagnosis. It’s not related to the actually medical symptoms; it’s more about the self-advocacy you end up needing to do. As a kid, I would want to go to sleepovers, and my friend’s parents would feel uncomfortable with that, even though I was totally fine.”
“I’m relieved to know that the research has grown around this condition, along with the awareness. We are now taught contraindicated drugs in medical school, and there were questions about LQTS on my board exams. We’ve come a long way.”
In high school, Nicole, her mother, Dr. McCormack and SADS worked together to help advocate for her right to participate in a summer program in Oxford. “Although I was initially accepted, after learning about my LQTS diagnosis, I was disqualified,” she says. “My mom and Dr. McCormick advocated for my ability to participate, and I was ultimately able to go and had a wonderful time. SADS helped us donate an AED in Oxford so that in the future, other high schoolers with arrhythmia conditions will be able to participate in this program.
Nicole says that she was glad to see that awareness of these conditions has come a long way amongst medical providers since she was first diagnosed in 1997.
“In the past, external providers would ask me to describe the condition to them at unrelated appointments,” she says. “But I’m relieved to know that the research has grown around this condition, along with the awareness. We are now taught contraindicated drugs in medical school, and there were questions about LQTS on my board exams. We’ve come a long way.”