In June 2023, the SADS Foundation brought the ARVC patient community together for a first ever FDA Externally-Led Patient-Focused Drug Development Meeting (EL-PFDD). This meeting gave 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, we heard from patients and caregivers whose lives have been affected by ARVC tell their stories. Meet Christy, one of our panelists, below.
Can you start by telling me a little bit of your ARVC journey – from diagnosis to where you are now?
My Arrhythmogenic Cardiomyopathy journey began in April of 2020 at age 47 when I was standing at my kitchen counter during the COVID pandemic and suddenly felt like I was going to faint. My Apple watch showed that my heart rate was above 200. My husband took me to the ER where we found out I was in a ventricular tachycardia (VT) storm and had to be shocked three times and put on intravenous Lidocaine (not the first med they tried) to stabilize my heart. Doctors did an angiogram to make sure I was not having a heart attack and took multiple COVID tests which were all negative. They did an MRI which was not very conclusive but doctors were pretty sure I had a rare genetic disease; they just did not agree on which one and sent off a genetic test. I had a Subcutaneous Implantable Cardioverter-Defibrillator (S-ICD) installed while in the hospital.
I had been through cardiac testing nine months before my first event ( ecgs, echo, heart monitor) because of some pulsating in my neck and groin but apparently the test results at that time did not raise red flags. I don’t remember having any typical ARVC symptoms prior to the first VT storm.
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.
Since my initial VT storm, I have had 3 other shockable VT events. One shock in a virtual reality zombie game (I don’t advise trying out that game) in October 2021, two shocks while out to dinner in April 2022 and ten shocks starting at a friend’s birthday party in July 2022. I have had lots of medicine adjustments and an epicardial ablation in September of 2022. The ablation so far has been successful (knock on wood), but I had a lot of ablation complications that lead me to an additional three day hospital stay (pericardial and pleural effusions, reduced ejection fraction, chest pain). I am still healing both physically and emotionally from last year’s events and have questions about whether or not current symptoms are related. The shocks were extremely painful and anxiety is a real side effect from those shocks as well. I am also working with doctors to continue to tweak medicines to attempt to optimize the prevention of arrhythmias and heart failure while also managing side effects of medications.
Because of my own difficult journey, I have a passion for helping others with similar issues.
I’ve started a Facebook support group for Desmoplakin Cardiomyopathy Support (called DSP Cardiomyopathy Support) and we have been able to have some wonderful
meetings and promote and share events from other organizations such as SADS. I appreciate that over the last couple of years SADS has really grown their support and resources for ARVC/ACM. Johns Hopkins has a knowledgeable, passionate ARVC team. The DCM Foundation also has wonderful resources for patients. Working with these groups has helped both my anxiety and my purpose.
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.
What advice would you give to someone who has been newly diagnosed with ARVC?
- Don’t panic! Everyone’s journey is very different. There are some scary stories out there and we can learn from people’s experiences, but don’t believe that you are destined for the same path. The disease is highly variable, even within the same gene variation. You might not be able to control your disease journey but you can help yourself through your reactions, thoughts and attitudes.
- Have a genetic counselor as part of your medical team, especially at the very beginning. The genetic counselors I have met have been wonderful at not only explaining the gene variation and family impacts but of helping ensure you feel knowledgeable enough to know what to do next.
- Advocate for yourself and put your own best team together including experts and second opinions from ARVC/ACM experts and researchers. (Sometimes you may have to travel to find them. Local doctors may consult with experts.) You are the manager of your care and health. Many experts recommend having a psychologist or counselor as part of your team.
- With #3 in mind, understand that there are still a lot of unknowns and questions about this disease…even for the experts! This has been really hard for me to get my head wrapped around in the last three years. Letting go of the “unknown” and knowing I am doing the best that I can with the limited information I have has been helpful to release anxiety due to lack of control.
- If some of the things you used to love and enjoy are no longer options with this disease, reinvent yourself. Find new things that bring you joy and consider having a structured, positive daily routine of activities that you can do regardless of how you are feeling.
- There is strength and power in sharing with and learning from others. Join the support groups. Ask for help. Give help and support to others.
What is the top thing you want to convey to the FDA during the PFDD meeting about ARVC?
There is not enough known about the disease and the current therapies are not enough. Many of the existing therapies have difficult side effects. I would ask for their support and leadership to bring better therapies to market on as fast of a timeline as possible.