What is your CardioSmart story?
Heart disease has been a part of my life. I never knew my paternal grandfather, who died of a heart attack in his early 40s. My father had heart attacks at 28, 34, and 42, and then he received a heart transplant at 49. Both my grandfather and father had familial hypercholesterolemia (FH), a genetic condition that my sibling and I inherited.
At age 3, my parents noticed “skin irritations” on the backs of my knees and Achilles tendons. At 5, we had my cholesterol tested, and it was over 800! This was much higher than my father’s cholesterol had ever been. It turned out that those skin irritations were actually cholesterol deposits called xanthomas. I was immediately put on medication, and our family modified our diets. A few years later, I was also diagnosed with a bicuspid aortic valve. We already knew that I had FH, but later we learned that I had a different kind from my father or grandfather, called homozygous FH (HoFH). I had inherited two genes for high cholesterol, one from each of my parents.
I knew avoiding heart disease entirely was unlikely, but I was determined to do everything I could to give myself the best health possible. I watched my diet and was physically active from a young age. I took an active role in my health care, even as a teenager. I was educated about HoFH so I could talk about my disease and explain why I needed aggressive treatment. I regularly saw my cardiologist who managed my medication and monitored my valve. By 15, I had been on medications for 10 years, and had undergone numerous echocardiograms, stress tests, blood tests, and other cardiac tests. We were able to get my cholesterol down to the mid-400s, which wasn’t ideal, but it was something.
As I got older, I stayed on top of my condition. In my 20s, I began a procedure called LDL apheresis, where a machine filtered cholesterol from my blood through a process similar to dialysis. I drove two hours to get to the treatment center, and the procedure took about four hours, but I went regularly to get my cholesterol as low as I could. I did apheresis for 11 years, along with other medications, and regular doctor’s visits and tests.
Also in my mid-20s, my aortic valve was rapidly narrowing and calcifying. My cardiologist recommended a valve replacement. A pre-surgery heart catheterization revealed a significant blockage in one coronary artery, and my doctors decided to also perform a bypass during the planned valve surgery. In January 2004, at 28 years old, I had a single bypass and an aortic valve replacement.
I went through a cardiac rehabilitation program after my surgery and was back to normal life within a couple of months. Fourteen months later, I gave birth to my son. He was born nine weeks premature, due to the stress of the pregnancy on my heart, but after six weeks in the neonatal intensive care unit (NICU), he came home tiny but healthy. Five years later, we added to our family through adoption to avoid another high-risk pregnancy or birth. For the next several years, we enjoyed our growing family and stayed active. I continued to advocate for myself and stay on top of my health.
In 2011, I had a routine stress echocardiogram at my cardiologist’s office. As I stepped off the treadmill, my heart suddenly stopped. Thankfully, I was in a hospital, and the staff used defibrillator paddles to save my life. I was immediately taken to the catheterization lab where I was found to have a 99% blockage in my right coronary artery, and a failing mitral valve. Three days later, I had a second bypass surgery and a mitral valve replacement. I was 35 years old.
I am very grateful that I have always had physicians who were willing to listen to me and to treat my condition aggressively. Although I had open heart surgery in my 20s and 30s, today I feel strong and hopeful for the future. We are continuing to see new treatments for FH, and I already have benefitted from some of them. About two years ago, I connected with the FH Foundation, a group that works to raise awareness of this disease. I remain committed to staying educated about the treatment options available to me, and to making the most of every day for myself and for my family.
How do you work with your doctors and care team to stay on top of your heart condition?
I have always taken an active role in my own health care, and I take time to get to know my doctors and ensure that they are open to working with patients as partners. I am enrolled in a clinical trial, which my doctor found for me after I asked him about a new drug in development that I had heard about in the news. I am not afraid to speak up and ask questions, and I have found that my doctors — from cardiologists to internists to endocrinologists — are very open to learning with me about new treatment options.
What lifestyle changes did you make to improve your heart health?
I knew about my risk for heart disease at a very early age (5), and so I have always followed a lower-fat diet. I have also made efforts to remain active in my life, in ways that fit with my limitations. I am a golfer, and I go to the gym regularly. My husband is very active, as are our two children, so we find things to do together as a family, such as tennis and swimming, that we can all enjoy together. They help me stay motivated to eat right and exercise.
What challenges do you face? How are you able to overcome them?
Homozygous FH (HoFH) is a lifelong, chronic condition, so the biggest challenge is staying on top of all medications, regular doctor’s appointments, and living as healthy of a lifestyle as I can. Also, as someone who doesn’t “look” like a typical cardiac patient, I must be an active participant in my own health care, including educating physicians and insurance providers, to make sure I get the treatment and care I need. Along with working alongside health care providers, I rely on my family to help me stay motivated to see my doctors and have tests done regularly, and to stay active.
Who is your support system?
My family and friends are my support system, and they have been with me every step of the way. Since FH is a genetic condition, all of my family members know about the risks and have dealt with heart disease themselves. My husband and my children are tremendous motivations for me. My children were a big reason for me to work hard on my recovery after my second surgery. My extended family, including parents, siblings, in-laws, aunts, uncles and cousins, were there for me before and after my surgeries — and every day in between.
Do you have a personal motto? What inspires you?
“Life is what you make it.” Yes, my family has a genetic disease that makes all of us susceptible to dangerous heart disease. But, by being proactive and keeping a positive attitude, my family and I live a full and happy life. A friend once told me that my family was “lucky,” which is not usually a word to describe a family with a genetic disease! But as she explained — because we have faced difficult situations together, we truly know how much we all mean to each other. And that’s how I choose to look at life.