Rachel | Living with ARVC
Phoenix, Arizona | Born January 1987
“I am forcing myself to take it easy—which is not easy.”
Rachel grabs her tennis racket and heads onto the court. She savors the cool spring air, something that will soon be replaced by boiling summer days in the Arizona desert. Along with her three kids and her boyfriend, Hudson, she begins to warm up by bouncing the ball with her racket before squaring up to the net and sending a ball flying over it.
Hazel, her daughter, patrols the other side of the net, and with no small effort returns the ball back to her mother, her bright yellow racket wobbling in her small hands. Still, her form is good for a six-year-old, no doubt the result of diligent coaching. Jack and Angel, Rachel’s two sons, begin to play on the adjacent court, volleying between themselves and Hudson.
Hazel sends a ball over the net, toward the sideline, and it bounces past her mother. She lights up victoriously. Rachel smiles and commends Hazel on her technique. As she continues drills, Rachel moves around the court with an air of ease, accepting that there are certain balls out of her reach.
“It would be a lie to say that every time I step on the court, I don’t want to crush the ball,” says Rachel. She spent much of her adolescence and early adulthood a formidable tennis foe. “Even now, my instinct is to view the person on the other side of the net as my opponent. But these days, it’s mostly my kids that I’m hitting with. Or my leisurely ‘live-ball’ group of mostly older folks who play for fun. The intentional curtailing of my competitive spirit in tennis mimics the intentional curtailing of various aspects of my life. I am forcing myself to take it easy—which is not easy.”
Staying chill while playing tennis is indisputable evidence of the overarching changes that Rachel has made to her life to combat a hidden disease. She lives with arrhythmogenic right ventricular cardiomyopathy (ARVC), a genetic heart condition that puts her at high risk for cardiac arrhythmias such as ventricular tachycardia (VT), and sudden cardiac arrest. Her ARVC is specifically caused by a mutation to the PKP2 gene, which manifests as a malformation of cardiac muscle tissue. This mutation changes the properties of the cardiac muscle over time, making it less stable and more susceptible to arrhythmic events.
And while at first glance Rachel is a picture of health, in truth, she is lucky to be playing tennis at all right now. “Tennis is on the cusp,” she says. Her doctor has given her strict orders to play the game without running, which could potentially lead to an arrhythmia and a shock from the internal cardioverter defibrillator (ICD) implanted in her chest. The device would likely save her life, but cost her a trip to the emergency room, and no small amount of unpleasantness.
For now, Rachel is grateful to remain somewhat active on the court—even if she cannot really “play” as she once did—as it is a place where she has flourished over the years. From an early age, through adulthood, the sport paved the road to success academically, professionally, and even helped her start a family.
Rachel’s tireless work ethic has existed since she was a child. “My mom always told me I didn’t have to try so hard,” she recalls. “That I should take it easy.” Her mother, originally from the Philippines, had a far more laid-back attitude than Rachel, which often put the two at odds. Rachel now knows that her mother has the PKP2 gene that causes ARVC, and that members of her family died young from cardiac events. “In Filipino culture people don’t like to talk about that stuff,” she relays. Details of more distant relatives are scarce, but Rachel’s mother has an ICD and manages her symptoms well.
Rachel spent most of her early life in Asia and the Middle East, moving around frequently as a result of her father’s career as an oilfield engineer. She was born in Malaysia, and lived there for her first few years of life before moving to various countries including India, Australia, the United Arab Emirates, Oman, and eventually the United States.
The family came to settle in a suburb outside of Houston, Texas. It was here that a scout first noticed Rachel’s talent for tennis and approached the teenager about joining an elite tennis academy that provided room and board. “It was a chance to get out of the house,” recalls Rachel, whose propensity for the game was taking up a lot of space at home.
Though Rachel was unsure about a career in tennis, she was able to use the sport as a way to obtain higher education on a full scholarship. She went to college at Saint Louis University, which had a Division I athletics program, and continued to play while majoring in International Business and International Studies. While in college, she traveled to Nicaragua one summer, where she volunteered at an orphanage in Managua. Working with displaced children was life-changing for Rachel. “I knew then I would be an adoptive parent. It was obvious to me.”
She graduated from college at 21 and set about making the changes in her life necessary to support her prospective family of foster children. “I knew I needed a good way to make money if I wanted to support all these kids,” she recalls. Rachel signed up for a full-time job at an electric utility company. The work was well paid, but lacked excitement. She did however take full advantage of some of the perks, which included getting her MBA funded at Washington University in St. Louis, and meeting her soon-to-be husband, Matt.
Rachel and Matt were coworkers but first got to know each other on the tennis court. The two struck up a friendship and Rachel soon started dating the widower, who had lost his wife in a car accident. Matt had a son, Jack, who Rachel quickly grew close with. “After six months of dating, I got very involved in Jack’s life,” says Rachel. “I was attached.” Matt and Rachel decided to marry and Rachel formally adopted Jack.
Marriage with Matt had many ups and downs, but two important factors kept the couple together. “He was willing to become a foster parent,” says Rachel. “And he was willing to move his life for my career.” When Rachel decided to move to Phoenix to pursue her Ph.D. at Arizona State University, Matt and Jack made the move too.
Once in Arizona, Rachel began working at a torrid pace. “Our first year, sometimes I would leave the house at six a.m. and come back at midnight,” she remembers. “Matt was doing a lot for Jack. Picking him up, making him food. He held his part of the deal.” After her first year of her program, Rachel started to slow her pace of work down, and took the opportunity to get licensed to be a foster parent, attending the required seminars and screenings.
That very same day her license was accepted, she got a call from the state. Rachel learned there was a four-year-old in foster care who was in need of a home. She enthusiastically said “yes” and got a chance to meet Angel, who would become her second adopted son.
Matt and Rachel went to pick Angel up and as luck would have it another discovery was made. “The same day I picked Angel up, I learned that I was pregnant!” says Rachel. The realization that her family was about to get bigger by a factor of two, was cause for great joy and no modicum of stress. “It was very overwhelming,” she reflects. “I didn’t tell anybody at work. It’s an unspoken thing when you’re getting your Ph.D. as a woman—you put your life on hold at home. It was very out of the norm to be in a Ph.D. program and be pregnant, and even more out of the norm to go through the process of adopting.”
Nonetheless, Rachel was in many ways, living her dream. She gave birth to Hazel at the age of 28 without incident. However, eight months later things changed drastically.
Rachel and Matt took a vacation to La Jolla, California, where she entered a tennis tournament. As soon as she stepped out onto the court, she felt off. “Everything was fuzzy, like an old TV screen that was shaky.” She was determined to pull through. “Little did I know that my brain wasn’t being oxygenated.” Rachel went to the bathroom and upon returning passed out on the court.
Her body lay lifelessly on the painted pavement and her bowels released. It appeared she had died. Fortunately, a doctor was at the tournament and acted quickly, checking Rachel’s pulse. “He knew that I was having VT,” says Rachel. “Maybe my heart had totally stopped for a moment. My body reacted as if it did.” When paramedics arrived, the doctor instructed them to give lidocaine, and by the time Rachel was settled in the back of the ambulance, her VT had ceased and her heart returned to a normal rhythm without the use of a defibrillator.
Rachel stayed in the hospital overnight while doctors ran tests. From her hospital bed, work and home life moved on. When a cardiologist finally came to bring her results, she had her laptop out, working on her dissertation, while simultaneously pumping breast milk.
The cardiologist explained to Rachel that she had a rare genetic heart condition. She was flabbergasted. “But I’m healthy!” Rachel exclaimed. He said that she likely had ARVC, a condition which most often affects people engaged in vigorous activity or with elevated stress hormones. He looked suggestively at Rachel’s hospital-bed accessories and made sure she got an external defibrillator before she could return home to Phoenix.
Rachel returned home and got an ICD placed after confirming her ARVC diagnosis with doctors from Johns Hopkins. Further genetic testing confirmed that the disease was caused by the PKP2 mutation. Rachel learned that she was going to have to lead a very different life from that point onward. “They told me that I needed to make lifestyle changes, really, really big ones. Stop exercising. No running. No intense tennis. And find ways to take it easy at work.”
Making such dramatic alterations did not come easy, but over time the benefits have availed themselves. Rachel began to scale back the hours she worked at the university and stopped cardio-intensive exercise. “I live a better life now than I would have before,” she says. “I spend more time with my kids. I’m a professor. I just enjoy life. I know a lot more than I did before, when I was constantly in this hustle mode, suffocating myself with work.”
ARVC has forced Rachel to adopt a new mindset, one that has let go of the constant expectations and challenges that once occupied her thoughts every day. Her new exercise routine is heavily centered around yoga, which has helped her mind and body transition to a more low-stress existence. She also lifts weights.
For Rachel, there is of course the tendency to push the limits. At an office party a couple years ago, she joined in on some ax-throwing fun. As Rachel raised the throwing ax above her head she passed out. The ax dropped from her hands and hit her in the face, leaving a cut as her ICD sent a shock to her heart and restored a normal rhythm. Her stunned co-workers called 911, but Rachel’s heart had already returned to a non-threatening rhythm, courtesy of the ICD. Again, in 2021, she got shocked by her ICD—this time cliff-jumping in Hawaii. When swimming back to shore she felt the shock ripple through her chest. “Then, I could no longer use one of my arms,” she says. “And I struggled to swim back.”
In truth, scaling back on life was never part of Rachel’s plan. “If I didn’t have kids I cannot say, with any confidence, that I would’ve made any changes—if no one was dependent on me.” This is not to say that she wants to be reckless. If anything, she is quite aware of her tendencies and tries to make the best decisions for herself and her family. “I don’t want to die before my kids are old enough to take care of themselves.”
Though Rachel and Matt got divorced in 2019, they have joint custody of the kids and are able to coparent well. With the combination of adjusting to life with ARVC and being unmarried, Rachel’s focus and time has shifted away from work and exercise and more toward being a caretaker for Jack, Angel, and Hazel.
This story was written by Living in the Light, a patient advocacy initiative producing unique and engaging content that educates the biotech industry and medical communities about the realities of rare and chronic diseases and the profound effect they have on families and daily life.