The Road to Familial Hypercholesterolemia Diagnosis

Like a lot of overweight young adults, I struggled with weight for pretty much my whole life. 

My mom always tried to get me to eat better and I pretty much always resisted. It wasn’t until I was 12 that I was scared into healthy eating. At my yearly physical, they did blood work on my cholesterol for the first time and the numbers were shocking. My LDL was over 200 and my HDL was in the 40s. What scared me most of all at the time was that my A1C showed that I was pre-diabetic. I was going down a bad lifestyle path and at 12, those numbers shocked me enough to get in gear. Unfortunately, at the time, my doctor didn’t realize that the cholesterol numbers weren’t just cheeseburgers and fries.

Through diet and exercise, I lost about 60 pounds and my numbers got better. LDL 150 andHDL 60. Not great, but better.

“And so a doctor recognized Familial Hypercholesterolemia, but didn’t give it that name.”

And then I lost my momentum. I started slowly gaining the weight back and avoided the doctor so that they couldn’t tell me scary things. It wasn’t until I was 18 that my doctor really started pushing me to see someone about my cholesterol. My doctor gave me the strictest diet I had ever seen and was pushing me to eat a bunch of foods I really didn’t like.

I decided before I left the office that I didn’t want to eat that way. I was going to do what I wanted. But he put me cholesterol absorbers, because as he put it, “your liver just doesn’t work like other people’s when it comes to cholesterol. It’s just a genetic thing.” And so a doctor recognized familial hypercholesterolemia, but didn’t give it that name.

I yo-yoed through the next 6 years with low calorie diets. I stopped taking the medicine about 3 months into the horrible diet he gave me. No “lifestyle change” would stick. It just turned into a series of failed diets and made me feel more and more hopeless.

I talked to my mother about it and she kept saying that my great grandmother and my grandmother had really high cholesterol and lived into their 90s. But I was still worried about my weight and how long my heart would last.

 “That’s when my doctor finally spoke the words Familial Hypercholesterolemia.”

Then it happened, I hit the 300 pound mark, my blood tests came back as bad as when I was 12, and my doctor found a heart arrhythmia. I was committed to losing the weight again, but the low calorie and low fat diet was so hard for me to embrace. A lifestyle change for “forever” just seemed too insurmountable. I lost some weight and was put on statins, but my numbers weren’t budging. That’s when my doctor finally spoke the words familial hypercholesterolemia. It was kind of freeing to know that my horrible cholesterol wasn’t completely my fault. It also made it so much more important to find a way to control my numbers.

When I finally knew what I was battling, it felt like I knew how to fight it. I committed to statins. With diet and exercises and a commitment to support my health from my parents, my cholesterol numbers are verging on being “normal.”

“When I finally knew what I was battling, it felt like I knew how to fight it.”

With rare diseases, it seems like it is becoming more and more important for early diagnosis. Then people can take control of their lives and put a name to the monster they are fighting. I got lucky that someone realized by my 20s why I was fighting a battle that it seemed impossible to win. But through the support of family and knowledgeable medical staff, sometimes diseases can become more manageable, even if there aren’t completely eradicated.

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