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The Accidental Advocate

A patient uses  her experience with a genetic disorder to improve outcomes, including her own

On a perfect day in Southern California, Katherine Wilemon was gardening when she was bitten by a spider. She had always had a fear of spiders, and she experienced an upward thrust of blood pressure. When she calmed down, she noticed that she had chest pain and pain radiating down her right arm. Aware of her own history of Familial Hypercholesterolemia (FH), she called 911, concerned she might be having a heart attack.

The responding paramedic acted unfamiliar with FH. He did not understand when Wilemon painstakingly explained her diagnosis and elevated cholesterol levels. He listened to a 5'2," thin woman still in her thirties tell him about her normal cholesterol being 385 and her current cholesterol on fertility medications being over 600 total. He heard her concern about a heart attack and responded, "Sweetie, if it was your husband maybe, but there's just no way you're having a heart attack."

Wilemon subsequently experienced weeks of continuous, disturbing symptoms. She had chest pain upon walking any incline or stairs, and sometimes excruciating pain in her right arm. She went to the emergency room twice, and to several other doctors. Finally, Wilemon took matters into her own hands at her cardiologist's office: she refused to leave without taking a stress test. Her cardiologist objected that a routine stress test administered 6 months earlier, as well as a CT scan in the last year, had revealed no cause for concern. Ultimately, however, Wilemon's insistence on a new test prevailed. This stress test indicated serious problems.

Wilemon was rushed to the catherization lab, where it was revealed that she had had 100 percent occlusion in her proximal left descending artery. She had been having a "walking heart attack" for weeks since the spider bite. Wilemon was immediately admitted to the hospital, and she had a life-saving angioplasty procedure to clear the blockage and install a stent.

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The Accidental Advocate

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The fact that Wilemon didn't look at-risk for cardiovascular disease is not uncommon for patients with FH. It is a genetic disorder associated with abnormally high levels of cholesterol-even in seemingly healthy individuals.

Some of the 1:500 individuals with FH display yellowish patches around their eyes and xanthomas or bulges in their tendons, most commonly the Achilles tendons. Most, however, experience no symptoms and have no idea they have FH. The disease itself is essentially a condition in which the body cannot rid itself of naturally occurring cholesterol quickly enough. The ensuing cholesterol build-up results in unnatural deposits in the joints, the skin, the arcus of the cornea and, most significantly, in the arteries.

News of the disorder often follows tragedy, such as when a post-mortem blood test determines that FH caused the early death of a loved one. Many baseball fans learned about FH in a tragic manner when Darryl Kile, an All-Star major league pitcher, died mid-season in 2002. His death was subsequently attributed to a 90 percent blockage in two coronary arteries. Neither Kile nor his team was aware that he had FH.

A petite, active woman who prides herself on nutritious eating, Wilemon remembers when swelling and inflammation in her Achilles tendon led her to consult the family physician at age 15. The doctor prescribed a statin medication and said that she simply had high cholesterol. This was a beginning of a pattern in medical treatment that Wilemon experienced. Her condition was consistently treated more like an anomaly than like a recognized disease.

Knowledge of FH did not come until her late twenties, when Wilemon complained to a new doctor about side effects from her prescription. "He said, 'Don't you understand that if you don't take it, you will suffer a heart attack?" she recalled.

Despite her mild symptomology, attractive appearance and healthy lifestyle, the disorder has impacted Wilemon in profound ways. For years, little information was available, leaving Wilemon with more questions than answers. "Even with doctors who knew of my history, I had to advocate for myself to get the care that I needed," she said, adding that there was a "total dearth of information" early into her diagnosis.

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With increasing clarity into the disease came heightened concern that conceiving her first child would result in the loss of her own life. When women become pregnant, their cholesterol levels escalate-for an FH patient like Wilemon, the increase could be deadly. After taking fertility medications for almost five years, her cholesterol levels had risen from 385 to more than 600.

Shortly after having their daughter, the Wilemon family met Dr. John Guyton, an endocrinologist at Duke University Medical Center. He suggested FH testing for their newborn, and he was the first physician to provide great insight on the disorder and an alternate treatment protocol.

"I was still trying to take the conversation beyond just taking megadoses of statins," Wilemon said, noting that Dr. Guyton identified a new medication regimen that resulted in her taking multiple medications but experiencing far fewer side effects.

Although disappointed to learn that their three-year-old daughter carries FH, the Wilemons took comfort in knowing the diagnosis allows them to treat her proactively. "My greatest hope is to live long enough to see my daughter get married," she said. "Maybe even get to see my grandchildren."

Still, there are times of worry. Wilemon is scared that medical developments won't come quickly enough to advance treatments for FH patients during her lifetime. It frustrates her that 1:500 people have the disorder, but she has only very recently met other adults who are either aware that they have FH or who have family members with FH. These individuals with FH are inevitably only aware of the disease because they happened to work with a physician who has heightened awareness of the condition. She has started to take a more active role in patient advocacy, both domestically and in connection with more established organizations in Europe.

In crowded places, she sometimes looks around and wonders who else carries FH. And she continues to advocate for her daughter, one of the only other FH patients that she knows.

"We will make sure she is under the care of doctors who understand this disease," she said. "That's something that took me a long time to find."