I’m Rare, But I’m Not Alone: Sydney’s HoFH Story

When I think about how I discovered I had Homozygous Familial Hypercholesterolemia (HoFH), I can’t help but be grateful. I was diagnosed with HoFH by accident—and thank God I was.

Growing up, I was always an active and healthy kid. Both my parents were athletes who took eating healthy seriously and encouraged me to participate in sports. There were no obvious signs something was wrong. I took karate for years and was living what seemed like a perfectly normal life until I needed physical therapy at 14 years old for what I thought was just an Achilles tendon injury.

After eight months of physical therapy with little improvement, my doctors decided I needed surgery. It was my orthopedic surgeon who suggested I get a lipid panel before proceeding, knowing my mom had high cholesterol and I had a family history of cardiovascular disease and early heart attacks.

That simple blood test revealed my shocking truth: my LDL cholesterol was over 700mg/dL. I didn’t know that was possible. My surgery was immediately postponed, and I was referred to a pediatric lipid specialist with a diagnosis of Familial Hypercholesterolemia.

For the next four years, we tried desperately to lower my cholesterol with little success. We tried every statin at every dose under the sun, but my levels never fell below 400mg/dL. My doctor knew something more serious was happening.

In March of 2018, genetic testing revealed I had inherited two LDL-r genes, and on my 18th birthday, I received my official diagnosis: Homozygous Familial Hypercholesterolemia.

After my HoFH diagnosis, everything changed. The conversations shifted from “Take this statin and you’ll be fine!” to “You’re going to have a heart attack or stroke in your 20s if we don’t start aggressive treatment right now.” So, aggressive treatment is exactly what we did.

I was promptly started on higher potency statins, ezetimibe, a PCSK9 inhibitor, and weekly LDL apheresis treatments. It was around this time that my doctor asked me to think about the severity of my disorder, and if I knew I could die from this.

I was paralyzed by the thought of conceptualizing my death at 18 years old when I had lived a completely normal, healthy life up until this point. How do you process being told your life might be cut short when you’re just starting to plan your future?

Little did I know that one year later, on August 9, 2019, I would have my first cardiac event during one of my apheresis treatments. I was a sophomore in college.

I am so grateful to have been in the right place at the right time. I’m also so grateful for the incredible nurses and doctor with me that day who quickly intervened, as I ended up with no permanent damage from this event. But the experience completely rocked me and made me think about the people who aren’t as lucky—those who don’t have the knowledge or resources to advocate for themselves.

Navigating my diagnosis, treatments, and feelings about all of it, alone, was one of the hardest things I’ve ever done. I had never felt more scared or isolated.

After my cardiac event, I researched HoFH like my life depended on it (because it did). I turned to the internet to find any semblance of belonging. I couldn’t be the only person in the world going through this, right?

That’s when I found the Family Heart Foundation through a support group on Facebook. I was moved by so many people being brave enough to share their thoughts, their wins and losses, and their stories. I decided then, that I wanted to understand more about my diagnosis, rather than fear it, and I also wanted to support others in the way I felt supported.

In 2020, I was trained as a Family Heart Ambassador, and my life
changed forever.

Since finding the Family Heart Foundation, I’m the healthiest I’ve ever been. My cholesterol is under control, I have an amazing cardiologist and genetic specialist that work together to manage my care, I’ve graduated with my BSN, and I am currently in graduate school to become a Nurse Practitioner. I will be able to combine my love for nursing, with my passion for advocacy every day.

Not only did I find the support and belonging I was craving through the Family Heart Foundation, I found so much more. I found research. I found knowledge. I found friends. I found power. And perhaps most importantly, I found hope.

I’m rare, but I’m definitely not alone.

Sydney P.
Family Heart Ambassador

Watch Sydney’s Video