Around the world, a rare genetic disorder saddles some families with sky-high levels of cholesterol that can lead to early heart attacks, and death. It's called familial hypercholesterolemia, and researchers are still trying to piece together the best ways to treat patients. A key testing ground for drug companies is the Lewiston-Auburn area. That's where a confluence of history and genetics has made the disease 10 times higher among the area's large Franco-American community than the general population.

Bert Ouellette, whose ancestors came from Quebec, is dad to Carl Ouellette and Doreen St. Laurent (in photo at right), and passed the disease onto them. Doreen in turn passed the disease onto two of her daughters.

The thing is, none of them look like they have high cholesterol. Bert is an active 70-year-old still working as a real estate broker. Doreen is a self-described fitness freak who watches everything she eats. "I am vegan now--nothing with a face or a mother, nothing that already has cholesterol in it," she says.

Carl is a trim handyman, but the time he tried to go off his medication and rely just on diet and exercise his cholesterol shot way above normal levels. "My total cholesterol was 318, which is well over the amount it should be, so I started taking up my meds, my cholesterol is down to 150. Diet and exercise will not do it."

That's because his body has a genetic defect that subverts the processing of cholesterol. Normally, says Auburn cardiologist Dr. Dervilla McCann (left), cholesterol is one of the most carefully regulated molecules in the body. "And what happens is you ingest cholesterol and it gets absorbed, and typically gets transported to the liver and the liver kind of decides what to do with it," she says.

McCann, who works at Central Maine Heart Associates, says cholesterol ends up being used to make hormones and an important component of cells. "The body has a recycling program that is a really good one. Familial hypercholesterolemia--that recycling program starts to break down."

McCann says that the local Franco-American population probably inherited the gene from their French ancestors who first moved to Canada, then down to Maine to work in the mills.

"And because of the culture of this immigration group, they tended to have large families, they tended to intermarry because they were all Catholic and they had shared a common heritage, a common language," McCann says. "And so these very large families had an increased predilection to have this gene."

Geneticists call it the founder effect. Basically, a few people with abnormal DNA centuries ago are responsible for a whole lot of disease in later generations.

Eight-year-old Cullen Gagnon and his dad Patrick (in photo right) play video games at their home in Lewiston. Both have familial hypercholesterolemia. So does Patrick Gagnon's other son, a teenager. "My 17-year-old son was tested at 13 with a 310 cholesterol count," Patrick Gagnon says. "Cullen was tested at the same time and at the time he came out with a 260, I think it was. I want to say he was, what, three-and-a-half, four? So at that age to have that high a cholesterol was a little scary."

Patrick Gagnon got his kids tested after he had his own health catastrophe. "I didn't even know I had a cholesterol problem until my first heart attack, when I was 32," he says.

Josie Huang: "How old are you now?"

Patrick Gagnon: "I'm 37. And I had my second one this past September."

A former corrections officer, Gagnon is now restricted to light office work. But he's suffered so much scarring in his heart, his doctor is asking him to consider going on disability.

Gagnon, who takes eight pills a day, says he holds much more hope for his sons because their disease was caught early.
"It gives us a leg up, it gives us access to earlier treatment," he says. "I don't want to see my boys having heart attacks at 32 like I had."

Cullen is too little to take statin drugs, and instead controls his cholesterol the best he can with a healthy lifestyle. But when he is big enough to take medication, there might be more effective treatments.

Dr. McCann's cardiology practice, which sees about 50 people with the disease, has helped several drug companies such as Pfizer conduct ongoing trials in recent years for drugs targeting familial hypercholesterolemia. "These drugs, although they're targeting 'familials' may well have application to other people who don't have this particular gene, and we've been testing lots and lots of drugs that we can use with the statin drugs to enhance their effect," she says.

Doreen St. Laurent took part in a trial this summer for a cholesterol vaccine. She got a shot in her belly once a month. It's been frustrating living with this disease, but she says it's actually been a blessing. "Because I'm taking care of myself, I'm eating right and I'm exercing. And at the same time, I'm teaching my children to do that," she says. "I'm not just preaching it, I'm practicing what I preach."

She and her family are set on raising awareness for the disease. Father Bert has become an effective spokesman, giving interviews not just to U.S. news outlets but to media in Canada, where there's a great deal of interest in the Quebec diaspora. In the meantime, there continue to be clinical trial openings at the Auburn cardiology clinic.

Photos by Josie Huang.