No one believed Wenter Blair was having a heart attack -- the 40-year-old ranch photographer from Frisco, Texas, was just too healthy.
Blair had been referred for a nuclear stress test after she had an incident of chest pressure and sweated profusely. But as she ran on the treadmill, a bit short of breath but in no pain, the doctor dismissed the results as a "false positive."
"When you see a 128-pound, 5-foot 4-inch woman in stilettos, doctors think it's a hormone issue," said Wenter, now 44. "I was riding horses, chasing children, swimming -- I live a very active life. I ran a 10K the week of my heart attack."
But a nurse who was monitoring the results recognized it was, indeed, a heart attack and pushed Blair to get herself to another doctor, saving her life -- and, surprisingly, the life of her then 9-year-old son.
Blair was diagnosed with familial hypercholesterolemia -- a lipid disorder that starts at birth, causing an elevation of fat in the blood and leading to heart disease, stroke and other medical problems. And when genetic tests were done, they discovered her son Christian also had the condition.
With, FH, heart disease and heart attacks can occur at a young age. People with a severe form of this condition can die their 20s.
"The tragedy of it was it was only diagnosed because of a wonderful, crazy, God-like intervention and series of events," said Blair. "Doctors watched my heart attack and didn't think it was real."
Now, she wants others to know about the disease so that their children can be tested and treated early, before damage sets in.
The American Academy of Pediatrics now recommends cholesterol testing for all children once between the ages of 9 and 11, in large part to detect familial hypercholesterolemia, according to ABC's Dr. Richard Besser. "While this is somewhat controversial, if your child hasn't been screened, ask about this," he said.
For many people, abnormal cholesterol levels are partly due to an unhealthy lifestyle, such as eating a diet that is high in fat. But in Blair and her son's case, high levels of LDL -- the so-called "bad cholesterol -- were genetic.
About one in 500 Americans has familial hypercholesterolemia or FH, but many more go undiagnosed, according to Dr. James Underberg, a clinical lipidologist at the NYU Center for Cardiovascular Disease Prevention. There is also a higher risk among Ashkenazi Jews, French Canadians, Christian Lebanese and South African Afrikaners.
"In Miami Beach you have a big Jewish population and French Canadians so the incidence could be 1 in 50," said Underberg.
"The classic description of the defective gene that controls LDL receptor is a little shovel or dump truck on the liver that scoops up the cholesterol and brings it back to the liver," said Underberg. "If it doesn't work properly, it cannot clear cholesterol out of the blood stream and the so the liver makes more. It's an abnormal response and it hits both ends."
Blair finally got a proper diagnosis and, after six stents around her heart, she is on medication. Her son Christian, too, is being treated.
Blair's ordeal started in a bar at a Mexican restaurant three years ago when she began to sweat "from head to toe -- like someone had a spray bottle on me."
The event passed after about 25 minutes, but Blair assumed it was related to a hysterectomy she'd had the year before and made an appointment with her gynecologist to discuss hormone treatments.
"She literally asked me to put the phone down and come straight to her office," said Blair. "She met me at the door and did an EKG right there. She knew I'd had a heart attack."
Blair was referred to a female cardiologist, who argued that the EKG was incorrect. "She told my doctor that I was too cheerful, not sullen and I was far too thin -- surely I couldn't be a candidate for a heart attack," said Blair.
The new doctor blamed the symptoms on her hormone levels and for six weeks, the two doctors went back and forth, debating diagnoses.
Finally, a nuclear stress test was ordered to look at the blood flow to Blair's heart muscle. While she was on the treadmill, the images revealed her heart was failing and the doctor leapt out of the chair.
"He rushed to me and said, 'You are having a heart attack.' But I kept going because I was not in pain. He told me, 'I want you to stop.' Then he said the image must be a false positive."
The doctor said to come back in a year.
As Blair got dressed, the attending nurse grabbed her arm and pulled her into the exam room. "She was sobbing: 'Mrs. Blair, if you don't get a heart catheter in a few days, you'll be dead in a week."
"I burst into tears," said Blair.
When Blair was finally diagnosed with FH, she was urged to get her children genetically tested. Her daughter McKenna, now 15, was fine; Christian, 12, had FH.
When a family history was taken, they determined that her father, who had his first heart attack in his 50s and died in his 70s, had passed the disease on to Blair.
FH is autosomal dominant, which means that the genetic mutation can be passed to a child from just one parent. If the mutated allele comes from just one parent, the child develops heterozygous FH; from both parents, it becomes a more serious form of the disorder, homozygous FH.
A diagnosis is made by evaluating family history and total LDL. In some other countries, genetic testing is used, but here it is expensive and not covered by insurance plans, according to Underberg.
Other signs can be cholesterol deposits around the eyes or on the Achilles tendon or rings around the outer part of the iris.
"There is a tremendous lack of awareness," said Underberg. "And early diagnosis can prevent an early death."
FH can be treated with cholesterol-lowering drugs known as statins, as well as an "appropriate diet and lifestyle," said Underberg. "But it's almost impossible to do it on diet alone. Really, it's almost impossible to treat it without medication."
Because Blair is cannot tolerate statins, doctors have tried a number of other treatments, including bile sequesters and a dialysis-like procedure to rid the cholesterol, known as LDL apheresis. None have been completely successful.
"They are struggling to find a path for me, but the good news is my son is on low-dose statins and he is awesome," said Blair.
Because of early diagnosis, Christian's LDL levels are "perfectly normal' and "he should be fine," according to Blair. An ice hockey player, he travels all over the country for tournaments.
"If we can get patients actually diagnosed early, it's the key to preserving hundreds of thousands of lives a year," she said. "Children can be caught early and never have cardiac disease in their future. It would save the nation millions of dollars."