In June 2023, the SADS Foundation is bringing the ARVC patient community together for a first ever FDA Externally-Led Patient-Focused Drug Development Meeting (EL-PFDD). This meeting gives the FDA and other key stakeholders — including researchers, biopharma companies, healthcare providers, product developers and federal regulatory partners — an important opportunity to hear directly from patients, their families, caregivers, and patient advocates about the symptoms that matter most to them, the impact the disease has on patients’ daily lives, patients’ experiences with currently available treatments, and patient’s priorities for therapeutic outcomes. Learn more about the EL-PFDD here.
During the EL-PFDD, you’ll hear from patients and caregivers whose lives have been affected by ARVC tell their stories. Here, you can meet the panelists who will be presenting their stories during these sessions.
We want to hear from YOU during the EL-PFDD about how ARVC has affected you or a loved one’s life. Your inputs will become part of the Voice of the Patient report prepared after the meeting and will become a formal submission to the FDA as well as guidance for ongoing and future research. We want and need to hear from families with ARVC – both with and without therapy (transplant, beta blockers, anti-arrhythmics, ICDs, ablations etc.), and from all countries. You can register to join the EL-PFDD here.
Julia
In February of 2020, Julia and her friend Joel ran to make the train in San Francisco, California. As soon as they got through the train doors, Julia started to feel faint; Joel was able to help Julia off the train and call 911.
In the hospital, ER doctors saw that Julia was in ventricular tachycardia (VT), a fast and dangerous heart rhythm. Doctors were able to get her back to a normal rhythm with a defibrillator.
Julia was transferred to another hospital, where an electrophysiologist (a specialist who focuses on heart rhythm abnormalities) put her through tests to try and find answers. She was diagnosed with ARVC, and doctors put in an implantable cardioverter defibrillator (ICD) to help protect her from further dangerous arrhythmias.
Since then, Julia’s been involved with advocacy efforts to help make others aware of ARVC and SCA. An important part of Julia’s advocacy – and her journey with ARVC – was learning about the gene that causes her ARVC, called PKP2.
Read Julia’s full story here.
Courtney
Courtney West didn’t know that she had a potentially fatal heart condition until her brother, Jacob, died suddenly during a football practice from sudden cardiac arrest (SCA) in 2013.
Jacob was a multisport athlete who’d had several school physicals, none of which showed any problems. “We were completely blindsided,” says Courtney.
After Jacob’s death, doctors suspected it was due to a genetic heart condition. Courtney began an extensive testing process. She had multiple arrhythmias (abnormal heart rhythms) during a stress test, which led to a diagnosis of ARVC (arrhythmogenic right ventricular cardiomyopathy), a progressive genetic disease of the heart muscle.
Read Courtney’s full story here.
Nelson
Nelson has been fighting to get his life back for over two decades. After struggling with symptoms, procedures, and being shocked by his ICD hundreds of times, Nelson was finally diagnosed with ARVC via genetic testing in 2020. His long and difficult road to an accurate 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.
Nelson’s story with ARVC starts on a trip to Sierra Leone, Africa in 1997, when rebel forces invaded the hotel where he was staying. He was eventually evacuated and returned home to Florida, however, the stress and trauma of that moment precipitated his first cardiac episode: a sudden cardiac arrest at a friend’s pool party soon after. Nelson’s life was saved that day, but the odyssey of arriving at a diagnosis would take innumerable twists and turns.
Despite continuing to suffer from near-constant premature ventricular contractions and frequent bouts of ventricular tachycardia, a proper diagnosis was not made. Thus, for years Nelson continued to exercise, which made his condition worse. Despite the devastation that the disease has wreaked on his life, he is devoted to sharing his story to educate others and promote initiatives that could help the next generation. For Nelson, this has real implications. His daughter Gabriella, only six, has already been found to have the PKP2 mutation that caused her father’s ARVC. He prays that her journey will be much easier than his.
Read Nelson’s full story here.
Jason
On a typical afternoon in April 2020, Jason went out for a jog after work. After only a couple miles, he began to feel off—his heart began racing and just would not slow down. With his medical knowledge from being an EMT and firefighter, he surmised some arrhythmia might be taking place. A couple weeks later when he tried jogging again, a similar thing happened. He called a paramedic friend who came to monitor his heart and what she saw was shocking: Jason was in ventricular tachycardia, a dangerous arrhythmia. He was rushed to the hospital.
After numerous tests and imaging doctors diagnosed Jason with #ARVC and placed an implantable cardiac defibrillator (#ICD) in his chest to protect him from future arrhythmias. Most importantly, they explained to him that he could no longer run or do any activity that would elevate his heart rate, less he accelerate the scarring of cardiac tissue on his right ventricle, or risk another arrhythmic episode.
While running and backpacking are off-limits activities now, there are many aspects of Jason’s life that he has maintained, making the necessary adjustments to stay safe while doing them. The lifelong tinkerer and outdoors enthusiast has had to learn how to be out in nature without pushing his body to its limit—despite his desire to get to the next peak. Now, he makes sure to not do anything too strenuous, and to stay within reasonable distance to a hospital. In return, he and his family have found more time to take in the vistas, to smell the flowers, and observe the quiet pieces of nature that lay hidden in plain sight for years.
Read Jason’s full story here.
Tracy
Two really difficult moments stand out to me since my ARVC diagnosis. The first is after I had my daughter, when I went into heart failure. She was a few months old when I learned that my doctors were recommending that I be listed for transplant. It was the first time I’d had to consider what transplant would be for me – and with a young baby. That was a really tough time – even tougher than when I was first diagnosed. A similar moment was when we moved to Minnesota to be closer to the doctors who could help me stay off the transplant list. I told my doctor in the first meeting that my goal was for my daughter to graduate high school before I had my heart transplant. And he looked at me, and he looked very sad, and said that was an ambitious goal.
The other moment that stands out to me was two years ago in April, when I started going through the workup to join the transplant list. I went through twenty appointments, so many tests, and everything was going well. Then I got a ping on my phone and saw that my UNOS antibody test had come back. It was at 93%. I was really sad, because I felt like I had been fighting for so long and now knew things would get tougher.
Read Tracy’s full story here.
Christy
My father died of sudden death in his sleep at age 52 in 1998. He was the most athletic man I knew. The coroner confirmed that my father did not have a typical heart attack but said his heart was enlarged; he did not know the root cause. My father’s sister died of heart failure at age 60 in 2010. She had fought heart failure for 20 years and doctors thought it was from a virus when she was young. It was not until I was in the hospital with my first event that anyone considered the possibility of a genetic link. In June of 2020 the genetic test came back and I found out that I had a pathogenic variant in the DSP gene which can lead to Arrhythmogenic Cardiomyopathy and or Dilated Cardiomyopathy. Since then, one of my two daughters has tested positive and been hospitalized for non-sustained VT, and one of my two cousins and five of his children have all tested positive for the gene mutation.
When I think about today, I’m very grateful to be alive. I strive to improve and don’t feel like I’m “stuck” where I am with this disease. My identity is changing but I feel like I still have the opportunity to be an even better version of my pre-diagnosis self.
Read Christy’s full story here.
Joelle
When Joelle was 12, she passed out in church – and testing revealed that the culprit was ARVC. And it progressed quickly – a year after diagnosis, at 13, Joelle got an ICD to help regulate the “electrical chaos” in her heart.
Joelle had been a competitive figure skater before her diagnosis, and returned to the rink after her ICD implantation while being carefully monitored by her doctors. But it was hard for her to compete, and just a few months later, Joelle went into heart failure – and required a transplant.
She spent 48 days in the hospital before receiving a donor heart, and the transplant at Mayo Clinic was successful. Six weeks later, she was able to get back to the rink – and now competes as a figure skater again. Joelle now wants to go to med school and become a surgeon when she’s older, specifically pediatric cardiology.
“If it wasn’t for my donor and their family, I wouldn’t have received this heart, and might not be here today,” says Joelle. “it completely changes your life – it’s amazing.”
Read Joelle’s full story here.
Adam
The first time our family heard of ARVC was in 2018 when my son, Greg – after the first of five Sudden Cardiac Arrests he’d experience in his lifetime – received the diagnosis. Seventeen years early, my wife, Jackie – Greg’s mother – passed away without warning from a Sudden Cardiac Arrest. We had no real explanation or suggestion of a cause for her death at that time.
Since Greg’s diagnosis in 2018, my other son, Ben, has also been diagnosed with ARVC through genetic testing, plus my brothers-in-law and several nieces and nephews. It’s very important for clinics across the world to be as informed as possible about this condition, and have a network in place that directs patients to the best support. There’s huge gaps in this process, from my experience.
Read Adam’s full story here.
Jeff
I was diagnosed with ARVC in May of 2021, but I got my ICD in August of 2017. Given that ARVC is a genetic disease, I guess I had it in 2017- I just went undiagnosed. I’m a lot better off today than I was when I was first told I had the disease- it hit me like a ton of bricks and I had so many questions that my doctors didn’t seem to be able to answer or didn’t have time to answer. It took getting referred to a heart failure expert to finally get answers to all my questions.
Based on my experience in the last year and a half, and talking with others who have ARVC and ICDs, everyone’s journey is different, but there are often a lot of similarities in our journeys too. A lot of the struggle is physical, but there are often some mental issues like anxiety and PTSD that develop as well. I think talking about and opening up as we’re able to, about all of these struggles bond people together and help make us and those around us stronger.
It’s difficult to talk about our journeys…our conditions…and what we’re going through, but I found that the more I talked about it, the faster I healed. When I first got diagnosed and went through the shock storm, it was really hard to talk about- it increased my anxiety even more to talk about it. But the more I talked about it, the less anxious I was. It wasn’t a quick fix but talking to other people not only helped me get better but helped those around me as well.
Read Jeff’s full story here.
Jen
If you ever have to be diagnosed with a condition like ARVC, I can’t think of a better time in history, or a better
place, for it to happen. We have so many treatments: medications, ICDs, surgical procedures – and we’re on the brink of significant advances in genetic treatments. I feel lucky, because even though ARVC is relatively rare, there is so much time and energy spent on researching new treatments, and I am often humbled by how much time and dedication has gone into studying ARVC.
Spreading awareness is certainly admirable – and it’s where we want to start. But it’s not enough. Quality of life is crucial to people living with ARVC, especially because this disease affects otherwise healthy young people. We need to focus on treatments that will allow people to have a high quality of life, to live a good life, not only to survive but to thrive.
Read Jen’s full story here.