Nelson | Living with ARVC
Tampa, FL | Born August 1971

“The problem is not dying. The problem is living with this damn disease.”

The loud banging coming from the street was getting closer. Rounds of gunshots, RPG explosions, and the sounds of mass looting came streaming in through Nelson’s window. Then, a cacophony of bullets and yelling made its way into the corridors of the home where he was staying. He got on the phone and dialed the US Embassy. As he explained his situation, pleading with them to evacuate him, heavy bullets hit the walls as the door to his room swung open. In an instant, he threw the phone to the ground and put his hands above his head. A rebel soldier walked right toward him pointing an AK-47 into his chest.

This was not the plan Nelson had envisioned when months prior he and a business partner invested their money in an operation to import police equipment to Sierra Leone. The West African nation had been rife with conflict for several years as the current regime struggled to hold onto power. But on May 25, 1997, a renewed assault on the capital, Freetown, led to a coup by rebel forces.

Nelson had never been more scared for his life. He attempted to reason with the soldier, but the man knew little English. A local, who spoke Krio, placed himself between Nelson and the rifle. The ensuing conversation bought crucial time—time that allowed Nelson’s evacuation to a safe house. From there, he was airlifted to Conakry, Guinea, and five days later was on a plane headed back home to Florida.

“I was just beginning my life,” recalls Nelson decades later from his current home in Tampa. “I was 25. I came from Cuba to the US at 8 years old, with no financial support at all.

Nelson (center) at his eighth birthday in Cuba, just months before coming to the United States.

So, I was trying to make it, for my family and for myself.” Nelson dreamt of becoming a successful businessman, building his wealth from the ground up, and the loss of his investment was a major setback with enormous financial implications. He had recently signed a mortgage and moved his wife and son into the new house.

“After coming back to the US, my stress levels were incredible,” says Nelson. He gave up his new house, his new car, and went back to work as an electronics technician, starting over while still attempting to make sense of the trauma he experienced in Sierra Leone.

SPLASH! Nelson jumped in the water and swam toward the other edge of the pool on a steamy August afternoon. It was two weeks until his 26^th birthday, and he was enjoying a swim with some friends. After his body was submerged, a strange sensation overtook him—he became disoriented, dizzy, and weak. He stumbled toward the shallow edge of the pool, trying to get out. He told his friend he felt like he was going to pass out and a moment later everything went dark. Nelson’s heart had stopped. He fell backwards onto the patio, smashing his head on concrete.

He returned to consciousness with a barrage of sound. He couldn’t see. His friends, who panicked and thought he was dead, asked him if he was okay. One had immediately begun CPR on Nelson until the ambulance arrived. The paramedics were coming toward him with a stretcher. The noise around him swelled and diminished and a minute later all went dark again.

Nelson traveled in and out of consciousness for the next few hours—in the ambulance and again at the hospital. For a moment, he saw his father.  Then, he awoke with a start after a nurse administered a precordial thump, essentially punching him in the chest. He immediately attempted to escape the hospital bed, but was pushed back down. “We think we know what’s going on!” the hospital staff exclaimed in an attempt to subdue him.

Something was going on with his right ventricle—a slight abnormality—but enough to trigger sudden cardiac arrest. He was stunned. Nelson had always considered himself healthy, played football, basketball, and had never experienced any complications with his heart. But the doctors had been able to observe it as it behaved erratically. He learned that his heart had gone into ventricular tachycardia (VT), an abnormal rhythm produced by an electric disturbance in his ventricles. The continuous presence of this arrhythmia caused Nelson to experience a phenomenon known as a VT storm, during which his heart rate hit a whopping 332 bpm.

Doctors could not determine the cause of his arrhythmias, but decided it was best to place an implantable cardioverter defibrillator (ICD) in Nelson’s chest before sending him home. “They told me to go back to living normally,” he recalls. It would take over 23 years for Nelson to get a more definitive answer as to what was going on with his heart.

In 2020, after struggling with symptoms, procedures, and being shocked by his ICD hundreds of times, Nelson was diagnosed with arrhythmogenic right ventricular cardiomyopathy (ARVC) via genetic test. His long and difficult road to a diagnosis is indicative of the challenges in identifying the rare genetic cardiac disease, as well as the definitive progress that has been made in understanding it. While ARVC has no cure, Nelson now knows about how to best handle the risks and symptoms of his disease.

However, this knowledge only came after decades of well-intentioned, but errant guidance from medical professionals. “I was doing things contrary to good advice—things an ARVC patient should not do,” says Nelson. The disease manifests from a gradual malformation of tissue in the right ventricle, which sets the stage for electrical disturbances in the heart. High-intensity exercise and stress hormones are triggers for cardiac episodes such as VT. However, Nelson’s doctors, for years, advised him to continue exercising, insisting that it was good for his heart, so he did.

Only a couple weeks after his ICD was placed, Nelson received his first shock. “That August, I was hanging out at a barbecue, playing some light football,” he recalls. In an instant, he felt a brutal knock. “It was horrible,” he recalls. “Like a sledgehammer in my chest.” Fear erupted inside him. Would he suffer cardiac arrest again? An ambulance was called and Nelson found himself hurtling back toward a reality that he thought he had escaped from.

At the hospital, Nelson saw an electrophysiologist who ran more tests. He watched his own EKG in amazement—his heart was throwing premature ventricular contractions (PVCs) even as he idly sat in the exam room. The electrophysiologist thought this could be managed with medication, and prescribed him 900mg of amiodarone before sending him home.

However, things did not improve. Nelson began experiencing PVCs daily, and then more VT, his ICD shocking him again and again. The side-effects to his medicine drained him of energy and forced him to spend days in lassitude on the couch. “Each time I would get shocked, I would go back to the hospital and they would prescribe me more drugs,” he says. The situation was not improving.

“They just didn’t know what was going on back then,” says Nelson. “ARVC was diagnosed from the presence of fatty tissue in the heart and electrical issues. I didn’t have that fatty tissue.” Because of this, other theories took prominence, including the hypothesis that he had caught a virus in Sierra Leone which was affecting his heart.

At this point, Nelson started to take matters into his own hands. “I started doing my own research. I didn’t have anyone else helping me.” He turned to the internet and came across something new: endocardial ablation, a surgical procedure to treat VT. Nelson remained proactive. He contacted the company that made the catheter for the procedure, and found out which doctors in Florida were performing the experimental operation as part of a clinical trial.

Nelson got his foot in the door at just the right time. After a consultation and testing, he was included in the study and underwent the procedure, which uses heat (or cold) to scar the tissue on his cardiac muscle, blocking faulty electrical signals. “After the ablation I went back to almost normal,” says Nelson. He stopped taking most of his medications and dealing with their side-effects. “I was still able to work and do a lot of things.” He did continue to have PVCs, which agonized him from time to time, but otherwise Nelson again hoped he had solved the problem.

Nine years later, in 2006, Nelson was out with friends dancing at a club one night when the illusion of normalcy would vanish anew. He had another VT storm and ended up sprawled out on the dance floor as his friends called 911. “I got zapped 31 times!” Nelson returned to the hospital in a sordid state. “I was getting shocked every 20 seconds. When I got to the hospital, I begged the nurses to knock me out.”

There doctors did another ablation and took biopsies of Nelson’s cardiac tissue to send to Mayo Clinic for further investigation because the ongoing problems were now suspicious. “Then, I got the call…I have to go to Rochester, Minnesota.” The biopsies appeared to show that the inflammation in Nelson’s heart was due to viral myocarditis and the theory that his problems began overseas resurfaced. Treating as such, Nelson was given steroids and antibiotics to combat an infection. “I heard ‘virus’ and I was optimistic,” recalls Nelson. “A virus is temporary, something you can get rid of.”

After a year of medications to treat myocarditis, Nelson felt better. His work as a technician was busy and rewarding, and had him travel all over the world. However, in 2009, he started to feel sick again. His PVCs were increasing and after new tests, he learned his ejection fraction (EF), or the amount of blood his heart could pump, was down to 36% (a healthy EF is typically from 50%-75%).

Other changes in Nelson’s life, including remarrying, prompted him to start over again, this time moving to San Antonio while continuing work as a technician. “My PVCs had gotten worse,” he recalls. “I was having them constantly—every other beat.” He got another ablation in Texas, but it was unsuccessful at relieving his symptoms.

In 2014, at the age of 43, Nelson returned to Florida and took up residence in Tampa. “I started feeling like I couldn’t handle work anymore,” he says. He received more VT ablations while trying various cocktails of medicines in hopes of finding relief. Meanwhile, he and his second wife, Yeny, had their first child together. Gabriella entered the world in 2015, filling their household with a new joy and reaffirmed Nelson’s desire to get better treatment.

Nelson would continue to struggle with PVCs and moments of VT. To this day, he can recall at least 32 procedures he’s undergone to try and stop his arrhythmias. Yeny studied Medicine in Cuba and always suspected ARVC, but every time she brought it up to the doctors they would disagree because no fatty tissue was present. In 2019, he went back to Mayo Clinic and went into VT as he was getting another epi and endo ablation. “I figured they could eliminate it because I was in VT,” he recalls.

However, when Nelson awoke from surgery, he got much different news. “We think you have something called ARVC,” said the surgeon. “It’s a disease when your right ventricle is inflamed, a type of cardiomyopathy. You need to get a genetic test when you return home.” Not only would Nelson need to test, but his entire family as well. Importantly, Nelson soon got in touch with specialists at John Hopkins, with a focus in treating ARVC. Due to the many previous ablations, surgeons at Johns Hopkins performed a bilateral sympathectomy to relieve some of the electrical issues in his heart. “It was then that I first learned that I should avoid exercise and stressful situations,” he recalls.

In 2020, Nelson finally got confirmation and a finite answer to 23 years of questions: he tested positive for a mutation to the PKP2 gene, a common ARVC genotype. His wife was right all along. In addition, he learned that the autosomal-dominant gene had been inherited from his father (who had never shown symptoms) and that Gabriella, his youngest child and only daughter, had the gene as well (Nelson also has a son from his previous marriage. He tested negative for the PKP2 mutation).

The driveway in front of Nelson’s house serves as a sort of track. He paces the length of it and returns, doing laps to get some basic exercise for the day. Gabriella plays in the driveway, riding her tricycle in circles around her father, giggling infectiously. He smiles at her and continues his walking.

“Spiritually, I’m devastated,” he says. “ARVC has changed my life—from being an active and super social person, to a somewhat serious sad guy. The problem is not dying. The problem is living with this damn disease.” Now, unable to work, Nelson spends most of his time at home and collects disability, which does little to cover his healthcare costs. He continues to experience PVCs regularly, but has avoided episodes of VT since he got his diagnosis and adapted certain changes to his lifestyle. Yeny works full-time as an accountant from the house as well, and Nelson helps with cooking and cleaning when he can—as long as he takes it easy. Playing with Gabriella, an intrinsic joy, is fettered when, at times, he is unable to keep up with her. “I’m very grateful for my wife and I have a lot to thank her for. It’s very tough for her. She takes care of me and deals with my suffering everyday. Without her I am nothing.”

Despite everything, it is amazing how positive Nelson’s attitude has stayed after the trials of his life. “If I had known I had ARVC in the beginning maybe I would be better off now,” he says. “I would have had an opportunity to avoid some of what I went through.” He has held fast to the sense that his doctors have always done the best they could for him, even if they weren’t correct. He doesn’t blame them for the mistakes that were made. He just wants to feel better now.

“The hardest part is not feeling well. It’s not waking up and taking a big breath of air and saying, ‘I feel good. I am going to take my family and get in the car and go somewhere for the weekend.’” Nelson fights to maintain his sense of autonomy and ability and is now firmly ensconced in working to understand his condition better. “I’ve been reading a lot about new treatments,” he says. “Gene therapy…I’m hopeful that will happen. Maybe it won’t be for me, but it will be for my daughter.”

As the afternoon matures, Nelson’s energy level starts to plummet. Tired from walking and playing with his daughter, he takes a rest on the couch. Gabriella joins him, cuddling up next to her father to watch a cartoon. Laughing together with his daughter is important medicine as well, as Nelson attempts to put his troubles and traumas behind him—a self-made man who has overcome massive obstacles to survive and cherish these simple moments with family.

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.