Diagnosed with hypertrophic cardiomyopathy
United States
Her heart in her hands, and laying bare personal details, Lisa Salberg talks of her drive to spare others her harrowing experiences with cardiovascular disease (CVD). And I do mean her real heart that she took out of a briefcase. It is thanks to an intricate process called plastination that preserves biological tissue. She shows me the white striated sections due to hypertrophic cardiomyopathy (HCM) which causes heart walls to thicken and stiffen, compromising the flow of oxygen-rich blood. How do you pick up the pieces after losing a sister who was only 36 years old, an uncle who was only 47, and having yourself been diagnosed with the same condition — HCM — at just 12 years of age? That is what Lisa does tirelessly, as Founder and CEO of the Hypertrophic Cardiomyopathy Association (HCMA), having endured five implantable devices, suffered a stroke, and became partially blind in one eye. Her inspiring account about health is therefore so much also about hope.
My family was marked by heart disease tragedy. In 1990, my uncle died suddenly at the age of 47, six weeks after I had suffered a stroke. On the fifth anniversary of my stroke my sister Lori was becoming an organ donor because she had suffered cardiac arrest five days earlier. At the age of 36, she left behind two children who came under my care while I was eight months pregnant with my daughter.
My diagnosis came in a decade when HCM was either little known or discussed. I was told I could die suddenly. Until that day, gym class was difficult when, holding back tears, and in pain but otherwise looking fine, teachers did not take me seriously. My sister Lori was born with an atrial septal defect, as well as HCM. When I was 18, Lori was instrumental in getting me to start Beta Blocker therapy and into a clinical trial – her own case was mismanaged, a hard story by itself. Such stressful events were taking a toll on my family, who were more inclined to take a stoic approach or not openly discuss it, if at all.
First a computer programmer, I moved into business and human resources management. While working at a large mail order house, the two gentlemen who started that business were committed to volunteerism. They allowed me time to use the computers and fax machines as part of researching HCM. By 1996, I had founded HCMA, which today has 50 HCMA-recognized centers of excellence, 20 in the pipeline, and potentially others internationally.
2012 was pivotal. The CEO of a small pharmaceutical company (Myokardia, since sold to Bristol Myers Squibb) approached me about targeted therapy for HCM. We began describing the symptoms, mapping the patient population, recruiting patients, and getting to grips with affected families. Treatment involved a new molecule that worked in the trials, leading to the first approved medication for HCM in April 2022.
In September 2016, I fell very ill and then came a series of symbolic events. The day before the Thanksgiving holiday, I was on the heart transplant list and 71 days later, at the end of the telephone line, I heard ‘We have a perfect heart for you, when can you be here.’ My operation was on 2 February, the day folklore has it that the groundhog might or might not see his shadow, foretelling Spring’s sunnier days. On Valentine’s Day, also National Donor Day, I returned home with a brand new heart.
I am alive to tell my story because of science, research, and the empathy of others willing to listen and act. We are in a day of innovation with the potential to cure patients with certain genetic mutations and diagnostics. New treatments are on the horizon: by October 2023 the first patient to receive gene therapy for treating HCM, and others are lined up to participate.
Public policy is where big change happens. HCMA has been instrumental in creating the Healthy Cardiac Monitoring Act to screen children as part of routine medical care. Asking the right questions about family health history and possible symptoms while strengthening the connection between healthcare provider and family are basic actions that save lives, livelihoods, and heartache. A young man and his parents recently came to my office; HCM was identified through this screening process, and he will be fitted with an implantable defibrillator; his father was then diagnosed with HCM.
If we are going to diagnose accurately, we must ensure that all therapies are available and affordable. I want to break the cycle of stigma, of not talking about unpleasant health challenges. I welcome sharing all that I learn in patient advocacy, communications, healthcare equity, and partnerships with non-profit organizations and others.
Today, my niece, nephew, and daughter have HCM, and defibrillators. My nephew is a school teacher and coach and is involved with USA Volleyball. My niece is now working for the HCMA as our Centers of Excellence Coordinator. My daughter is now a practicing mental health therapist, a previously nationally ranked equestrian, and is building an equine therapy practice.
I bring my preserved heart to talks, to show others the thing that almost killed me, and that I survived with 48 years. And I wage this fight so that others’ sisters and brothers, parents and children can get to stay together, not be torn apart by a heart needing a cure while, too often, being painfully unaware.
Collaborating with partners, podcasting, working the public circuit, speaking at conferences at home and abroad, running HCMA, and receiving awards such as the BIO NJ heart hero award, Lisa is brimming with energy. Lori’s memory is never far away, and it is as if I have spoken with both sisters – so palpable are the passion and commitment to ensure everyone can have the best possible outcome.
Bristol Myers Squibb is a sponsor of HCMA; this story helps us mark HCM Awareness Day, 28 February.