The Journey to Accepting My FH Diagnosis
“We lost her unexpectedly. From the outside, she had no indication something was wrong.” Charlotte was only 17 when her mother passed away from a heart attack. “She was so petite,” Charlotte explains, “and she lived a very stress-free life. She was radiant and active and you would have never known she had heart disease.”
A few months after their loss, Charlotte’s dad recommended she have her cholesterol checked. “I was getting ready to leave for college,” explains Charlotte, “so I had a physical and my cholesterol came back very high.” Her total number was around 340.
“You’ve got high cholesterol, and you need to go on statins as soon as possible.”
Charlotte’s doctor noted her extremely high LDL, or “bad” cholesterol, and told her she had to make a drastic change to avoid heart disease. “She told me ‘you need to go on statins as soon as possible,’” says Charlotte. She took that information home and had a long talk with one of her sisters. Charlotte’s sister had recently discovered she also had high cholesterol and was trying to change her diet and lifestyle before going on medicine.
She suggested Charlotte do the same thing.
Charlotte decided to take her sister’s advice and try to lower her cholesterol with diet and exercise. “I pretty much cut everything out of my diet right away,” Charlotte explains, “I gave up meat, cheese, dairy, saturated fats, and sugar. I went really, really intense.” She became a group fitness instructor, a personal trainer, and a yoga instructor.
“There’s power in diet and exercise, but it wasn’t enough.”
With all of that effort, Charlotte’s cholesterol fell about 100 points down to 240. “I realized there’s power in diet and exercise,” says Charlotte, “but my LDL wasn’t where we wanted.”
Recent recommendations from the American College of Cardiology say to increase your chances for a long life, you should get your LDL cholesterol to a safe place for as long as possible. Those without heart disease should have LDL at or below 100 mg/dL, and those with heart disease should aim for 55 mg/dL or lower.
Eventually Charlotte went on a statin to get her LDL down, and this year she began taking a PCSK9 inhibitor and is responding very well.
“There’s nothing wrong with me. I just have a genetic condition that I can’t control without medicine.”
It’s been 12 years since Charlotte lost her mother, but it was only a year ago that she discovered what she has, has a name – Familial Hypercholesterolemia (FH).
“I’ve been through so many cardiologists and doctors who treated me like any other patient with high cholesterol,” she says, “I’ve even had pharmacists tell me I could just control my cholesterol with diet and exercise. It can be very infuriating.”
She started reading about FH, found the Family Heart Foundation, and started making sense of everything that happened in her family.
“It was so validating,” she says, “I realized there’s nothing wrong with me. I just have a genetic condition that I can’t control without medicine.”
“I had no interest in fitness before I found out about my high cholesterol.”
Charlotte’s diagnosis also set her on a life path she never would have considered before. “I had no interest in fitness before I found out about my high cholesterol,” she explains, “I found I really loved it. Since then, I have opened up my own yoga studio.” Charlotte has dedicated her life to helping people be well and educating them about FH.
“So many people don’t know about it,” she explains, “but there are so many people that do know about it, and I want to be part of that group.”
“When you accept the diagnosis, you’re that much closer to treatment.”
Charlotte encourages people to talk to everyone, including their family about this common genetic disorder.
“There’s true connection in the vulnerable conversations,” she says, “You can acknowledge that some things are hard to talk about, especially a genetic disorder that can affect multiple people in the family. But it can bring you closer. When you face it, and accept the diagnosis, you’re that much closer to treatment, not only for yourself, but for your whole family.”
“My mom saved my life.”
Charlotte feels this special connection with her sister and the mother she lost. “I always like to say my mom saved my life.”
“If I could get her back, I would in a heartbeat,” she explains, “But her passing was the reason for me to get my health checked. It’s why I caught my FH so early, which is imperative for early treatment. That’s the way I like to look at it – she saved my life.”