Brad and Samantha Boucher
Ages: 46 and 11
From: Hampton, NH
At the early age of ten, Samantha (Sammy) Boucher was diagnosed with the genetic condition familial hypercholesterolemia (FH). While it’s daunting for a ten-year-old to have to control her cholesterol through exercise and dietary changes, in addition to taking daily medication, Sammy’s diagnosis at such a young age may save her life.
Unlike Sammy’s father Brad, who lived with FH his entire life but received an accurate diagnosis of his condition only after undergoing a quadruple bypass surgery at the age of 37, Sammy’s early diagnosis and proactive treatment of her condition should significantly decrease her risk of having to undergo a similar procedure.
Although Sammy doesn’t talk much about having FH, she is aware of her high cholesterol and the habits she needs to cultivate to stay healthy. Sammy is great about taking her daily medication on her own, stays active and recognizes that she needs to eat healthful, low-fat foods.
At a recent patient meeting concerning FH that Brad attended with his daughters, Sammy remained quiet throughout the meeting until, after hearing the term “heart attack” repeated several times, she passed her father a note asking, “Will I ever get a heart attack?” It was a question she was afraid to ask out loud. Clearly, she had been listening and understood the risks associated with FH.
Brad has to deal with his own FH but even more important to Brad than caring for himself is making sure that Sammy stays healthy. Brad’s fears for Sammy’s health have been alleviated by his doctor, Dr. Mary McGowan, who says Sammy’s risk of having a heart attack is decreased significantly since she started treating her high cholesterol early. Brad is thankful that Sammy won’t have to struggle to get an accurate diagnosis, as he did.
Brad’s father died of a heart attack at age 47 and his mother required bypass surgery in 1982 (13 years later, in 1995, she died of a heart attack as well); at the time, no one was aware that high cholesterol could be genetic. But high cholesterol runs in Brad’s family.
When Brad was only 18 years old, he received the shocking and tragic news that his 23-year-old brother had died suddenly of a heart attack. After learning from the coroner that their brother had “arteries like a 90-year-old man’s,” Brad and his siblings immediately went to the doctor to see if they were also at risk for a heart attack. They learned that Brad and his sister and one brother all have very high cholesterol, while his other older brother doesn’t have a cholesterol problem at all.
When diagnosed with high cholesterol at age 18, Brad was overwhelmed, but based on conversations with his doctor, he believed that he could control his cholesterol level through diet, exercise and medication. Though he was diagnosed him with high cholesterol, he never heard the term Familial Hypercholesterolemia. Since he was only 18 at the time of diagnosis, he naturally led an active lifestyle and took his medication regularly, but did not stick to a strict diet. After some time, the medication he was taking lost effectiveness and he had to try a new medication.
Time passed and when Brad started working full time, he became less physically active. Attempting to compensate for his decreased activity, he began to more closely control his diet. However, the medication and diet changes were not bringing down his cholesterol to a low enough level. While Brad knew he needed to decrease his cholesterol, he lacked guidance about what his target cholesterol levels should be.
One day when Brad was 37, he noticed he wasn’t feeling very well, his energy level was low and he had trouble doing simple things such as walking up the hill near his house or mowing his lawn without running out of breath. Brad went to see his doctor and was shocked to learn that he had such severely blocked arteries that he would need to undergo quadruple bypass surgery. At the time of his surgery, he was the youngest patient in the hospital to require such aggressive treatment and Dr. Mary McGowan, who worked in the hospital, took notice.
It was at that point–19 years after being told he had high cholesterol–that Brad finally learned that he actually had FH, a genetic form of high cholesterol that must be aggressively managed through diet, exercise and medication.
Brad is now participating in a clinical trial for a medication that has lowered his cholesterol level significantly–lower than it’s ever been in his life. Though he currently has his cholesterol under control, he worries about needing surgery again in the future.
In addition to having more information available, Brad looks forward to the day when FH is a well-known term and doctors do more than just tell patients they have high cholesterol. He hopes that doctors will take the time to explain that they have a genetic form of high cholesterol called FH and encourage them to go home and talk to their family about it.
Brad says he wishes his family had talked more. Following the FH patient meeting, he called his older brother to ask whether he was aware that he has FH. His brother said he remembers his doctor scribbling “FH” on his chart but he was never told “you have FH.” Brad’s brother looked into what FH is by himself to figure it out, although he said there wasn’t very much information out there to find. Upon calling his sister, Brad discovered the same was true in her case: her doctor had never told her she had FH, and she’d never even heard of it.
Most importantly, Brad’s advice to patients: be your own advocate. “If the doctor says you have high cholesterol, don’t just accept it – ask questions,” he says. Also, if you learn you have FH and have children, get them tested immediately and take it seriously. The earlier a child begins treatment, the better his or her chances are of maintaining a healthy cholesterol level throughout his or her life.
Brad continues to struggle with finding a balance for Sammy – between letting her be a child and making sure she knows the importance of managing her FH through diet, exercise and medication. But Brad is optimistic that since they know so much more about FH than he did at her age, and since she started treating it at a young age, she’ll be able live a healthier life than he has.
