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Why I'm Passionate About Raising Awareness for Familial Hypercholesterolemia

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Editor’s note: Any medical information included in this story is based on one person’s experience. Please consult your doctor for any questions or concerns about your health.

Last year, at age 54, my life dramatically changed. While on my daily four-mile walk with my dog, I felt a prickly sensation creep up my chest and neck. The tingly feeling wasn’t painful, but it got my attention and I knew something wasn’t right.

At the urging of my husband and mother, I decided to go to the emergency room, “just to be safe.” After running multiple tests in the ER, one of the doctors assumed I must have a nerve problem in my neck, since I am both thin and physically fit, and wanted to send me home.

But one astute ER doctor reviewed my family history of familial hypercholesterolemia (FH) and suggested I stay overnight for observation in the unlikely event this was a heart attack.

I am so grateful for his attention to detail because, over the next several hours, it became apparent I had experienced a mild heart attack, which would result in quadruple bypass surgery for me a few days later. My blockages were many, and severe, which was incredibly distressing for me and for my husband, and my two daughters.

In recovery, I was desperate to understand how FH had impacted me. Looking over my family history, I realized my mother’s father died from a heart attack when he was only 30, and sadly his brother died at age 32, also of a heart attack. My mom’s doctors told her throughout her life that she was “a ticking time bomb” because of how high her cholesterol was.

I remember my mom taking me to have my blood drawn at age 5. I was too young to understand why, but I would later find out that it was to identify that I had inherited familial hypercholesterolemia from her, like she had from her father, and like he had from one of his parents, and like I have passed on to one of my daughters.

It is important to understand that FH runs in families, meaning if one parent has FH, each child has a 50 percent chance of having FH. Having familial hypercholesterolemia means you have very high cholesterol from birth.

Our family history told a sad and deadly story. I had known my whole life I had FH, but because my mom is 78 years old and has not had a heart attack or heart procedures, I thought I was safe.

Even though our “cholesterol numbers” were similar, our outcomes have been completely different. I think the most important lesson that can be learned from my story is that even though my direct family members have not had heart attacks or any heart procedures, it does not mean you will be spared if you carry the genetics for FH or familial hypercholesterolemia. FH requires early and appropriate treatment for you to live a longer, healthier life.

Be diligent about seeing your doctors regularly and work with them to find the treatment that works best for you. I had taken statin treatments for more than 15 years, but unfortunately it didn’t lower my cholesterol levels enough, so I worked with my physicians to find alternative treatment options and have been undergoing LDL apheresis and taking a PCSK-9 inhibitor. The results of this treatment are amazing and will hopefully be life-extending for me. My LDL, which hovers at over 300 untreated, goes down to 25!

Through this experience, I’ve become extremely passionate about raising awareness for FH and helping shed light on the importance of early and appropriate treatment. Nearly one in 250 people in the U.S. (1.3 million people) have FH, and 90 percent are undiagnosed. While FH can lead to an increased risk for heart disease, when treated early, this risk can be reduced.

I want to do everything I can to raise awareness for this under-diagnosed and under-treated disorder. I hope my story can inspire other FH patients to take charge by finding the best doctors or lipidologists, and pursuing appropriate treatment.

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Originally published: September 18, 2017
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