“If I can help anyone who's in a position similar to mine, I want to do that.”
Determined to Live Life on Her Terms
When Emily Johnson was 11, her father went into cardiac arrest. He had a condition called hypertrophic cardiomyopathy (HCM), which causes the heart muscle to become thick. This makes it harder for the heart to pump blood. A number of problems can arise as a result, including heart failure.
HCM often goes undiagnosed because many people feel only mild symptoms, or no symptoms at all. Emily's dad was aware of his condition, but she says he hadn't experienced any symptoms before going into cardiac arrest.
In most cases, HCM is inherited. If you have a parent with it, there is a 50 percent chance of having the genetic mutation for the disease yourself. Emily and her sisters were tested using an MRI. Her results were positive for the mutation that was identified in her father as the genetic cause of his HCM.
Every six months, Emily underwent an electrocardiogram, or EKG. This is a noninvasive test that's done in a doctor's office and can detect many common heart problems. These can include abnormal heart rhythm and whether blocked or narrowed arteries are causing chest pain or a heart attack.
There is no cure for HCM, and Emily was told she had nothing to worry about as long as the results of her EKGs remained consistent, which they did – until last year.
A devastating turn
A water polo player in high school, Emily was recruited by George Washington University, in Washington, DC, to play at the Division I level. Accepting the offer meant the native Californian had to move across the country. But it also enabled her to continue playing the sport she loved.
Living in a new city far from her family was a challenge. But Emily leaned on her teammates and found comfort in their demanding schedule. All this was abruptly taken from her when a routine EKG in 2020 indicated the state of her HCM was changing. The university promptly told Emily she could no longer practice or compete with her team.
"I had been playing water polo for eight years. It was a huge part of my life. And exercise, in general, is integral to maintaining my mental health," Emily says. "Being told I couldn't do either, or even be with my teammates, was devastating."
Determined, Emily pledged to do whatever was necessary to return to the pool.
The way forward
Emily's beacon of hope came in the form of a study in which she had been participating. It began in May 2015 with the aim of determining how lifestyle and exercise impact the wellbeing of people with HCM. It's expected to be completed in 2022. With the news of her abnormal EKG results, Emily contacted the study's organizers. They referred her to Sharlene M. Day, MD, a cardiologist and HCM expert at the Penn Center for Inherited Cardiovascular Disease.
"I emailed her, and she replied within 30 minutes," Emily says.
Two months later, she met Dr. Day in person.
"She was amazing. She reviewed every part of my medical history and listened closely to my concerns," Emily says.
Empowered by Dr. Day's support and her willingness to engage Emily in shared decision-making over critical choices about her treatment, Emily elected to get an implantable cardioverter defibrillator (ICD). This is an electronic device that constantly monitors the heart's rhythm. When it detects an abnormal rhythm, it delivers a small shock to the heart muscle. This returns the heart to a normal rhythm.
"Dr. Day offered to advocate for me if I wanted to return to Division I athletics after getting the ICD," Emily says. "She believed exercising was in my best interest."
Without fear
Emily's ICD was placed in May. Within a week, she started doing light exercises. Three weeks later, she was back in the pool.
"I was not about to let it affect me in any way," she says. "The way I look at it is, I could step off the curb and get hit by a car. The odds of me going into cardiac arrest, now that I have the ICD, are as low, if not lower, than something like that happening."
Emily chose a subcutaneous ICD. This differs from a traditional ICD in that the leads (wires) connecting the device to the heart run under the skin rather than through veins. As a result, the leads can be more easily removed and replaced. Emily says she likes the fact that any physical signs of the ICD are well hidden. At 19, she doesn't want to be reminded of her HCM any more than necessary.
Shortly after her departure, the women's water polo program at George Washington was dissolved. So, Emily transferred to Boston University for her sophomore year and plays with its club-level team. In July, two months after her ICD procedure, she competed in the Junior Olympics.
Emily says she hasn't noticed a decline in her ability or performance.
Beyond the ICD, which she says she only occasionally remembers is there, she is back to living her life exactly as before. She will follow-up with Dr. Day on an annual basis. In the meantime, the two have kept in close contact, with Dr. Day sending Emily links to relevant studies and inviting her to participate in panel discussions. Emily, who is studying to become a doctor, is embracing all of it.
"My mom is a doctor. All my life, I've wanted to be one too. This experience has probably made me reconsider what kind of doctor I want to be. I always wanted to be a pediatric oncologist, but cardiology is close to my heart. Excuse the pun," she says. "If I can help anyone who's in a position similar to mine, I want to do that."