Family Hypercholesterolemia story - Isabelle B.

Why I Race: Knowledge Brings Positive Change

As a new team member of the Family Heart Foundation, I was thrilled to join an organization aligned so well with my goal to make a positive impact on peoples’ lives.

Not only was I eager to help others, but joining the Family Heart team in March of 2023 meant I would have even more opportunities to soak up knowledge about familial hypercholesterolemia (FH) and high lipoprotein(a), also known as Lp(a). This is important to me since my family has been affected by both genetic conditions for generations.

Let me walk you through my family tree…

I have FH. Both of my siblings have FH. Two of my three adult children have FH. One of my nieces and one of my nephews has FH.

My husband and one of my sons have high Lp(a).

My father and my aunt both died as a result of untreated FH. They were both in their 70s, but they spent years suffering with debilitating peripheral artery disease.

My children and I have been lucky to have two important guides on our healthcare journeys. My husband is a physician, and our lipidologist has made it a priority to share her knowledge of new research and treatment options each time we were in her office.

“Explaining the severity of these disorders to my family has sometimes fallen on deaf ears.”

Our children had their LDL cholesterol checked at an early age. Knowing that for people with FH, LDL cholesterol builds up in arteries starting at birth, we decided to start treatment with statins at ages 8 and 11. While statins helped tremendously, two of us continued to struggle to reach our recommended LDL goal. That all changed once we were able to get on PCSK9 inhibitors. With that combination therapy, our LDL finally dropped below the recommended threshold. We finally felt we were able to keep the disease in check.

My family’s FH journey has been fortunate, but I can’t say the same for my siblings and their children. Like many people in the Family Heart community, explaining the severity of these disorders has sometimes fallen on deaf ears.

“Their healthcare providers did not pick up on the fact that they or their children might have FH.”

My family members agreed to get their cholesterol tested but were reluctant to start treatment. When their cholesterol levels came back in the 400 mg/dL range, their healthcare providers did not pick up on the fact that they or their children might have FH. They were told to watch their diet and exercise and were sent on their way. At the time, I assumed their doctors were aware of their condition, would follow up with more testing, and advise them to start treatment. I was wrong.

I did not continue nudging until years later when my 50-year-old brother started having chest pain. We were all shocked to discover, despite his daily exercise regimen and careful diet, three of his coronary arteries had 95% blockage. He had to undergo catheterization to install stents and finally started taking a statin.

“I thought my brother’s cardiac event would be the wake-up call the rest of my family needed.”

At the time, I thought my brother’s cardiac event would be the wake-up call the rest of my family needed to realize that our genes couldn’t be ignored. I assumed my brother’s cardiologist would ensure his treatment was enough to bring his LDL to recommended levels. I assumed that my sister and their children’s providers would initiate appropriate treatment. None of this happened.

“Education from the Family Heart Foundation changed everything.”

When I started working for the Family Heart Foundation, I learned how under-screened, underdiagnosed, and undertreated FH is. I started reading stories of individuals who – just like my family members – did not fully understand that their family history of high cholesterol was genetic and put them at great risk for cardiovascular disease. I started to see that a large proportion of physicians are missing FH or aren’t treating with aggressive therapies.  I learned that most physicians don’t even test Lp(a).

Sharing this new knowledge with my siblings shifted their perspective. It empowered them to start a conversation with their healthcare providers about their genetic condition and the right treatments, risk factors, and recommended guidelines.

That’s why I’m in the #RaceToSaveMoreHearts. For me, the work of the Family Heart Foundation is personal. Thanks to their work and educational resources, I was able to share knowledge with my family and bring about positive change.

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