It was 2007 and Wilemon had recently celebrated her 39th birthday. She had just set a planter down, which she had moved across her yard, when she felt a distinct, crushing chest pain that radiated down her right arm. Despite the pain missing her left arm — a quintessential sign of a heart attack — Wilemon knew to call the ambulance. “When the EMTs came I said here’s my history, I’m scared to death that I’m having a heart attack,” Wilemon remembers. Since she was 15, Wilemon knew that she had high LDL cholesterol, the so-called “bad” cholesterol, which the National Heart, Lung, and Blood Institute (NHLBI) (PDF) classifies as over 100 mg/dL in adults and over 130 mg/dL in children. According to the NHLBI, your body needs some of this type of cholesterol to make hormones and build cells, but if there’s too much of it in the blood, LDL cholesterol can stick to the walls of arteries — known as plaque buildup — where it can restrict blood flow. Unstable plaque can rupture and cause loss of blood flow to certain organs. When this occurs in an artery that feeds blood to the heart, it is called a heart attack. When it occurs in the brain, it is called a stroke. In the past, Wilemon frequently hiked trails in the Hollywood Hills and knew what to expect of her body when she exercised. Slowly, pain crept into her chest even under minor exertion, then it got worse. When she started feeling short of breath and strangely fatigued during her hikes, she knew to get it checked out. Despite Wilemon’s history of high LDL cholesterol, her earlier symptoms were dismissed by her doctor as heartburn and she had been sent home. At the time of her heart attack, Wilemon was not taking the statins she had previously used to lower her high cholesterol, because she was pregnant. And the warning signs had been there for three months.
Lack of Urgency in Care
Even though she had collapsed in her garden, when Wilemon arrived at the hospital, she was met with a familiar lack of urgency for her care and was sent home. The next day, she went to see her primary care doctor, but since she had already been seen within the past six months, he didn’t want to run any more tests. She ran out of breath after scaling just five steps, but he told her it was anxiety. “I told him that of course I was anxious,” she says. “I knew that something was wrong with my heart and that I was terrified that I might be having a heart attack. I said I would not leave his office until he could guarantee me that my heart was okay and that I was not in danger.” Begrudgingly, his staff started a stress test, which required her to walk on a treadmill, but quickly stopped the test when it became clear there was, indeed, something wrong with her heart. “They said ‘Oh my gosh, you have to be in the cath lab,” Wilemon remembers, referring to the imaging room where they evaluate arteries. She was told she needed surgery to clear the plaque buildup completely obstructing her left descending artery — nicknamed ‘the widowmaker.” “These were all well-meaning people in the medical industry but it shows the paradigm shift that has to happen in the medical world,” says Wilemon.
Heart Attacks on the Rise in Younger People
Research presented at the 2019 American College of Cardiology Annual Scientific Session found that 20 percent of heart attacks occur in people younger than 40, and the number of young people having heart attacks has been increasing by 2 percent every year for the past decade. Heart disease is also the number one killer of women in high-income countries, and 1 in 16 women in the United States 20 years or older have coronary artery disease (CAD), or plaque buildup in the arteries, the CDC reports. Despite its prevalence, research presented in March 2021 at the European Society of Cardiology’s CardioVascular Care conference highlighted how doctors are commonly more likely to suspect a heart attack when a man is admitted to the emergency room with chest pain compared with women, regardless of risk factors. “I think there is a misconception that heart disease exclusively happens to people who are older, and we know that women’s care is delayed if they are having an event, because they are not seen as candidates for cardiovascular disease and treated with the same urgency,” Wilemon says. The surgeon told Wilemon she had the arteries of a 70-year-old and the heart attack had damaged her heart muscle. Luckily, her heart adapted after she received a cardiac stent, which opened up the blockage in her left anterior descending (LAD) artery. Having a heart attack shook Wilemon, who did not leave the hospital with a diagnosis that explained why she was on the operating table in the cath lab. And she wanted answers. She decided to leave LA and move closer to her family. The move helped her get the answers she needed so she can take better care of her health.
Diagnosis Is Key to Prevention
Eight months later, Wilemon, her 2-year-old daughter, and her husband moved to Raleigh-Durham, North Carolina. She saw a new cardiologist who recognized that her medication was not working to lower her cholesterol. He sent her to a specialist, an endocrinologist that specialized in lipid metabolism disorders, who diagnosed her with familial hypercholesterolemia (FH). Years later, she would be diagnosed with another genetic condition causing her to have high lipoprotein(a) — Lp(a) for short — another naturally occurring particle in the body, like cholesterol, that can cause heart disease. According to the Family Heart Foundation, 1 in 5 people has elevated levels of Lp(a) — higher than 50 mg/dL, or 125 nmol/L. The CDC estimates that about 1 in 250 people in the world have FH, which causes the body to produce abnormally high amounts of cholesterol. The high levels of cholesterol and Lp(a) she’d had since birth had dramatically accelerated the process of atherosclerosis in Wilemon’s body. Wilemon always felt like an anomaly, like her high cholesterol was a medical mystery. But it wasn’t. “I had never been told what the name of my condition was. That’s key. People often know they have high LDL cholesterol and a family history of it but they don’t know it is a condition,” she says. “When that is the case, they don’t know what they should be doing to manage it.” Wilemon was diagnosed with heterozygous familial hypercholesterolemia, meaning that she inherited the gene from one of her parents. Regardless of whether a person inherits the gene for FH from one or both parents (what’s known as homozygous familial hypercholesterolemia, which is rare), all offspring should be tested for the condition. According to the NHLBI, kids whose parents have been diagnosed with FH should be screened by age 2, when treatment with medication can start. All kids, regardless of family history, should be screened for high cholesterol and FH between ages 9 and 11. This early detection is a key aspect of the disease. “I’ll never forget when a doctor walked through that each of my children would have a 50 percent chance of getting it,” she explains. “That’s a statistic, but when you have a child, that is a terrifying proposition that they would have something potentially life-threatening in the prime of their life,” Wilemon says. “High cholesterol haunts families and a lot of times they don’t know why.”
Turning Adversity Into Advocacy
Wilemon continued to see the specialist that initially made the diagnosis. She went every three months for the first half a year, then every six months. Now, she only sees her cardiologist once a year and is able to manage her cholesterol with a combination of a statin, ezetimibe, and a PCSK9 inhibitor. One day when she was at her doctor’s office, he proposed an idea that changed the course of Wilemon’s life. “He said ‘Katherine, I feel like you could make a difference for so many other families, would you ever consider speaking about your experience?’” she remembers. According to her doctor, John Guyton, MD, an endocrinologist at Duke Health in Durham, North Carolina, “Her animation and her ability as a communicator was just immediately obvious.” But Wilemon is afraid of two things: Spiders and public speaking. Still, she saw it as an incredible opportunity to start driving real change, starting with how doctors think about FH. “I hated public speaking to the point of panic,” she says. “I agreed because I had begun to discover that familial hypercholesterolemia was almost universally being missed in the United States.” Wilemon faced her fears and spoke at a conference for the National Lipid Association in Chicago. Healthcare providers, the people who can diagnose FH early, were her audience. Standing outside next to the Chicago River in downtown Chicago on a cold and windy day in April, she started to tell her story. Doctors attending the conference stopped and formed a small circle around her. Afterwards, a doctor approached her asking if she would share her story again, this time with the board of directors of the American Medical Association (AMA). That’s when things snowballed. While speaking to the AMA board of directors, she met a geneticist from Europe, who asked her to speak at a cardiology conference in Hamburg, Germany, the following month. “I saw the impact my story had on these experts,” explains Wilemon. “These particular experts understood the condition of FH, but they did not realize how many of their colleagues thought of this common condition as rare, and therefore, were not looking for it.” She got a standing ovation after her speech in Hamburg, which is when she decided to start an organization of her own — helping to bridge the gap in knowledge for both physicians and patients. “I had always wanted to make a difference in the world,” she says. “I realized that I could play a pivotal role in preventing generations of cardiovascular disease.” Wilemon credits her doctor, Dr. Guyton, for giving her the push she needed to start an organization focused on educating health professionals and their patients about genetic conditions like FH and Lp(a) that are often not caught early, when intervention is key. “I saw that the problem came way before people got sick, therefore we needed to be engaging healthcare providers as much as we needed to be engaging patients,” she says.
The Family Heart Foundation
In June 2011, Wilemon built The FH Foundation, which is now the Family Heart Foundation. Half of the board members are healthcare professionals and the other half are people living with FH, high Lp(a), or both. They started with holding summits that were meant to be scientific meetings. The attendees didn’t just look at the science of FH, but also how that science wasn’t being translated into real world care. “I met so many knowledgeable experts but they felt their responsibility ended with the prescription or the genome sequencing. I knew the problems patients were suffering from went far beyond that. People’s families weren’t being screened,” says Wilemon.
Moving FH Care Forward
Wilemon started researching how other countries helped families screen for this genetic disorder when she learned during her trip to Europe that Scandinavian countries had a system in place that notified relatives of people with FH, prompting them to get screened, too. In The Netherlands, the registry was run by an organization that received funding from the nation’s Ministry of Health. She wanted to bring that system to the United States. With the Family Heart Foundation, Wilemon approached 40 different institutions, including UPenn, Emory University, and Stanford University, about getting involved with a national registry. She wanted to create a registry that could quantify the delays in diagnosis and treatment. People with FH could volunteer to be a part of it and doctors could reach out to their relatives about getting tested. But her first roadblock was a lack of a diagnostic code. Diagnostic codes identify diseases, disorders, symptoms, and injuries and group them together. Because there wasn’t a code for FH, the disorder went under the radar when people were screened and treated for heart disease. According to Guyton, getting this code was instrumental in helping move FH care forward in the United States, especially getting insurance companies to cover genetic screening. “Because of the awareness work the Family Heart Foundation has done, I now have people coming in requesting genetic testing for lipid disorders,” says Guyton. “That just wouldn’t have happened 10 years ago.” After three years of collecting data and presenting it to the CDC and Centers for Medicare and Medicaid Services (CMS), the federal agency in charge of diagnostic codes, Wilemon and the Family Heart Foundation got FH a code, which is now used nationally to identify the condition. “FH is distinct from lifestyle-driven high cholesterol and needs to be treated differently,” she says. “Now that we can diagnose it with a specific code, it’s sending a strong message to the medical community. It’s forcing the medical community to make a differentiation.” The Family Heart Foundation was also plugging away at creating a database that would change the way healthcare systems in the United States help patients get screened for FH using machine learning. “We have a Care Navigation Center and with the patient’s permission, we can share information so family members across state lines can be notified that there is a family history of FH and that they should be screened,” she says. Wilemon recently expanded the Family Heart Foundation to advocate for Lp(a) as well as FH. She’s made huge strides in getting recognition for both conditions but her work isn’t over. “The guidelines and data are not enough,” she says. “We need to activate the public so people can be part of the solution.”
