Gail Bucci, 52, is a petite woman with fiery red hair, glowing skin and an ear-to-ear smile. She’s the picture of health, but looks can be deceiving. She’s fighting a deadly disease called pulmonary arterial hypertension. Today, Bucci is winning the battle. It took her several years before she knew what she was fighting.

Bucci’s problems began in 1997. Divorced and living in Sarasota with her widowed mother, she ran her own home cleaning business and did occasional private investigative work. Sometime that year, she started experiencing shortness of breath, fatigue and fainting spells. Climbing steps made her light-headed and dizzy.

At first, she blamed it on smoking—which she immediately stopped. “I couldn’t even get near cigarette smoke anymore,” she says. “There wasn’t even a question of smoking after that.”

Her fatigue and breathlessness didn’t go away. Next, she blamed her weight—along with nearly everyone around her. At just under 200 pounds, she knew she had to slim down. On her doctor’s advice, she had been taking a popular over-the-counter diet drug for almost a year. (Due to a gag order, Bucci cannot reveal the drug’s name.) The pounds were shedding—but she felt sicker than ever.

She went to see a specialist, and then sought a second opinion. Over the next three years, she got nine opinions—all wrong. To the first nine doctors, the disease was invisible.

“They all jumped to the same wrong conclusion for the same wrong reasons,” she says. “I was overweight and a former smoker. None of them could see past that.”

Each doctor gave the same advice: Fight the fat. “They all told me I’d bounce back to health when I got my weight down,” Bucci says. “They told me to exercise, but how could I? I could barely make it from the parking lot to their offices.”

Bucci didn’t bounce back. In fact, the doctors’ collective misdiagnosis worked against her. Her health steadily deteriorated. By 1999, she could no longer work—or even shop for groceries. Formerly active in her church and community, she began living like a shut-in with her mother caring for her. By 2000, she felt like she was dying. She didn’t know it at the time, but she was.

“The doctors couldn’t give me a satisfactory explanation for what was wrong with me—or tell me how I could make it right,” says Bucci. “I was desperate to find the answers. I started doing research on my own.”

Bucci surfed health and medical Web sites. At first, nothing seemed relevant. Then one item stopped her in her tracks—a condition called pulmonary arterial hypertension or PAH. According to the Web sites, its symptoms included fatigue, dizziness and shortness of breath.

“I was intrigued,” she says. “The symptoms matched mine—exactly.”

If she had it, it wasn’t good news. Pulmonary arterial hypertension (PAH) is abnormal blood pressure in the arteries of lungs. Its causes are still in question; its effects are not. It’s a serious disease that gets steadily worse—a domino effect of cascading symptoms. PAH begins with a narrowing of the arteries in the lungs; this increases resistance to the pulmonary blood flow, which raises pressure in the pulmonary arteries. The heart’s right ventricle struggles to pump blood through the lungs; eventually, something has to go. The heart muscle weakens, and sometimes fails. No outright cure exists yet, but there are treatments.

Bucci pursued her online detective work. Something intrigued her even more in her research. In some cases, the culprit behind PAH is genetic. Other causes are connective tissue diseases, sleep apnea, lupus, congenital heart and lung disease and HIV infection. In thousands of cases, a certain over-the-counter appetite suppressant—the one she’d been using—was also implicated as a possible cause of PAH. According to emerging studies, this drug’s users had a 23 times greater risk of developing this disease—even years after they’d taken it.

Intrigued, Bucci tracked down an online support group. Its members counseled her to see Dr. Michael Poon, a cardiologist at Mt. Sinai Hospital in New York City who specialized in pulmonary hypertension. Poon had worked with many sufferers of PAH. A large percentage of his patients had taken the same appetite suppressant.

In early 2001, Bucci met with Poon. He immediately ordered a pulmonary artery catheterization (PAC). “Five minutes after the procedure, he told me that I had pulmonary arterial hypertension in a moderate stage,” says Bacci. “He said I had probably less than three years to live.”

Poon started her on a calcium channel blocker, a medication that relaxes the muscles around blood vessels, allowing for better circulation. Only 20 percent of PAH patients respond to it. Bucci was one of the lucky ones, though her symptoms didn’t totally go away.

“It maintained my life, but my quality of life was still very poor,” says Bucci. “I remember one night my mother sat by my bed. We didn’t know if I would make it through that night. I wasn’t sure I wanted to.”

Once back in Sarasota, Bucci consulted with Dr. John W. Swisher, a specialist in pulmonary and critical care medicine, and the director of the Southwest Florida Pulmonary Hypertension Center at Doctors Hospital of Sarasota. She gives him credit for saving her life. “He not only got me back on the road to health,” she says. “He gave me hope and courage to fight this.”

Swisher gave Bucci a regime of diagnostic tests and treatments that included testing for sleep apnea, which she had. (Today, she sleeps with a continuous positive airway pressure [CPAP], a device that maintains a constant airflow.) After he treated her with other blood pressure-reducing medications, her condition gradually improved. Swisher was able to wean her off the calcium channel blocker and put her on beta blockers to control her blood pressure. According to recent echocardiograms, her blood pressure is back to normal.

“Gail’s prognosis is excellent,” says Swisher. “But in 2001 it looked grim. Things could have gone one of two ways; better or worse. If she hadn’t responded to calcium blockers, she would have needed more aggressive therapy.” He explains that these treatments include medications that are applied as a continuous intravenous infusion under the skin.

Fortunately for Bucci, her condition was identified in a relatively early stage.

“The later this disease is discovered, the later it is treated, the less likely the patient is going to survive,” says Swisher. “If you can catch it before it damages the right ventricle, you have a good chance of long-term survival. If the right ventricle is compromised, you can use drugs to lower arterial pressure, but that’s a stopgap measure. The damage usually can’t be reversed.” At these later stages, PAH eventually leads to death or heart and lung transplantation.

Bucci did show improvement. “I’m one of the lucky ones,” she says. “I never take it for granted.”

Over the next four years, Bucci’s quality of life steadily improved. Her medications were cut in half, and her activity level increased. By 2005, she could go to the mall without passing out. She didn’t have to use oxygen on a regular basis. Due to years of inactivity, though, she now weighed 245 pounds—more than she had before. Dr. Swisher felt she was healthy enough to withstand a gastric bypass operation, which she underwent that year. At 150 pounds, she’s lost 90 pounds already. “I have 25 more to go,” she says.

Today, Bucci’s pulmonary hypertension is under control. She has to use a nebulizer two to three times a day—a device that delivers medication as an inhalable mist. “I’m alive and functioning,” notes Bucci. “It’s a small price to pay.”

Bucci knows whom to thank.

“Dr. Swisher knew what to look for, what to test for and how to treat the underlying illnesses causing my disease,” notes Bucci. “His medical detective work was excellent. He saved my life.”

Bucci decided to show her gratitude by helping others. She became active in the Southwest Florida Pulmonary Hypertension Support Group. Today, she functions as the group’s leader. Since its founding in 2001, Swisher, Bucci and their team have started groups in Fort Myers, Orlando and Lakeland. The Sarasota group has about 60 members, including people with PAH and their caregivers. “They’re from across the map,” says Bucci, “from all stages and all ages.”

The group’s core message? First: that pulmonary arterial hypertension exists. Second: that something can be done about it—the sooner the better. And there’s a message for doctors, too.

“When patients complain of shortness of breath or fatigue, many doctors automatically assume it’s a sign of asthma or weight problems,” says Swisher. “If a patient complains about shortness of breath, give them an echocardiogram. If pulmonary hypertension is the cause, you’ll be able to find out.” He travels around the country giving seminars to groups of health providers.

Today, Bucci enjoys an active life caring for her young granddaughter a few days a week and spending most of her time working with the Southwest Florida Pulmonary Hypertension Support Group. She still lives with her 78-year-old mother, but she’s become more independent, and is fighting to stay that way. Her core message is one of hope.

“PAH is a terrible disease,” she says. “But you can fight it. This disease demands courage. I refuse to give up. That’s my message to others. I’m living proof you can fight it and win.”

For more information:

• Southwest Florida Pulmonary Hypertension Center at Doctors Hospital of Sarasota: (941) 924-9800
• Pulmonary Hypertension Association, (800) 748-7274; www.phassociation.org
• Primary Arterial Hypertension, (800) 923-6376; www.pph-net.org

FACTOIDS

Pulmonary hypertension occurs in individuals of all ages, races, and ethnic backgrounds, although it is much more common in young adults and is approximately twice as common in women as in men. Source: Cleveland Clinic

In the United States, an estimated 500 to 1,000 new cases of primary pulmonary hypertension are diagnosed each year. Source: Primary Arterial Hypertension

What causes pulmonary hypertension?

The following are some known causes of pulmonary hypertension:

• The diet drug “fen-phen.” Although the appetite suppressant “fen-phen” (dexfenfluramine and phentermine) has been taken off the market, former fen-phen users have a 23-fold increase risk of developing pulmonary hypertension, possibly years later.
• Liver diseases, rheumatic disorders, lung conditions. Pulmonary hypertension also can occur as a result of other medical conditions, such as chronic liver disease and liver cirrhosis, rheumatic disorders such as scleroderma or systemic lupus erythematosus (lupus), and lung conditions including tumors, emphysema, chronic obstructive pulmonary disease (COPD) and pulmonary fibrosis.
• Certain heart diseases. Heart diseases including aortic valve disease, left heart failure, mitral valve disease and congenital heart disease can also cause pulmonary hypertension.
• Thromboembolic disease. A blood clot in a large pulmonary artery can result in the development of pulmonary hypertension.
• Low-oxygen conditions. High-altitude living, obesity and sleep apnea can also lead to the development of pulmonary hypertension.
• Genetic predisposition. Pulmonary hypertension is inherited in a small number of cases. Knowing that someone in the family had or has pulmonary hypertension should prompt you to seek early evaluation should symptoms occur.

Source: Cleveland Clinic