7073彩票登录 For as long as he can remember, Steven Knapp never felt well.
“That was pretty much true from early childhood,” said Knapp, a self-described “Army brat” who was born in Germany and grew up in Turkey and a half-dozen states, including Georgia, where he has lived since high school.
Now 61, the technology writer said that childhood trips to the emergency room were not uncommon. A small and skinny child, he seemed accident-prone.
Once he hit his 30s, Knapp recalled, his health seemed to nose-dive and he suffered unexplained bouts of exhaustion. But invariably when doctors tested him, he said, “my bloodwork was surprisingly good.”
One of his most perplexing and bothersome symptoms was a chronic cough that had morphed from seasonal to year-round, accompanied by obstructed sinuses. Knapp underwent a tonsillectomy and sinus surgery; neither helped. The lack of improvement puzzled his doctors.
“They would say, ‘It doesn’t seem like asthma, but let’s treat it like asthma,’” he recalled of the inhaled corticosteroids, a mainstay treatment for asthma, that he took for years to little effect. Knapp also tried acupuncture, massage, a narcotic cough suppressant, and , an epilepsy drug sometimes used to treat a chronic cough. Only the cough medicine worked.
7073彩票登录 His gastrointestinal problems were equally bothersome. Knapp suffered from chronic constipation and acid reflux. In 1995 when he was 37, food became lodged in his esophagus while he was eating at a restaurant. A test revealed a or an abnormal narrowing of the esophagus. Knapp underwent the first of several procedures to dilate his esophagus.
7073彩票登录 In 2013, Knapp said that he and his wife, Jo Ann, decided to try a low-carbohydrate regimen emphasizing protein, healthy fats and vegetables. "I was losing about a pound a day,” recalled Knapp, who was carrying 140 pounds on his 5-foot-3 frame.
But within weeks he noted that no matter how much he ate on his low-carb plan, his weight loss continued unabated.
“I became ravenously hungry,” Knapp recalled. He routinely ate a large “snack” of bacon and cheese an hour before eating a full dinner.
At the same time, his fatigue intensified to the point where he had difficulty climbing the stairs in his home.
7073彩票登录 In six months, his weight had slid from 140 to 112 pounds.
7073彩票登录 Knapp consulted his longtime internist who was alarmed — and out of ideas.
7073彩票登录 She suggested that he might want to see , an Atlanta gastroenterologist who specializes in second-opinion consultations.
7073彩票登录 At their first meeting in August 2013, Rudert took an extensive medical history. She said she remembers being struck by Knapp’s ravenous hunger and his short stature. Knapp’s mother was only 4-foot-10, but his father had been 5-foot-8 and his older brother 5-foot-10.
Knapp had reported that his brother, who had died of esophageal cancer at age 49, had suffered from , a severe inflammation of the pancreas.
7073彩票登录 Rudert said she wondered whether Knapp’s height and his alarming weight loss were the result of a pancreatic disorder that impairs growth and prevents food from being properly digested and absorbed. It was possible that his long-standing problem had been exacerbated by the low-carb diet.
She was also struck by his long history of unexplained respiratory problems that seemed impervious to treatment.
“I thought, ‘That must be some infection,’?” Rudert said she remembers thinking.
Her first concern, she said, was to make sure Knapp didn’t have pancreatic or lung cancer.
7073彩票登录 After testing ruled out both, Rudert told Knapp she suspected he was suffering from The condition, in which the pancreas fails to generate or transport digestive enzymes essential to breaking down food in the intestine, has multiple causes, including celiac disease. It can occur after gastric bypass or other intestinal surgery or as a result of chronic pancreatitis or cystic fibrosis.
Rudert prescribed replacement to be taken daily and advised Knapp to start eating carbs. Slowly he began to gain weight and feel better.
7073彩票登录 Rudert said she suspected that Knapp’s personal and family history, including his sinus problems, refractory cough, and the results of various tests seemed to point in an unexplored direction. She thought he might be suffering from
7073彩票登录 Classic CF, the most common inherited disease among Caucasians, is caused by two defective genes, one from each parent. Although known as a lung disease, CF affects other parts of the body, including the sinuses, reproductive tract, pancreas and other digestive organs by producing sticky mucus that blocks them.
For decades, doctors thought that it took two genes to cause the disease. People who inherit only one defective gene were considered carriers capable of passing CF to their children, but were believed to be unaffected themselves.
But in recent years a new view has emerged: Sometimes, people who carry genes associated with CF may be affected, but less severely. Cases of atypical CF, which are more likely to be discovered in adolescence or adulthood, may leave the lungs largely unscathed, while impairing the pancreas or other organs. As with classic CF, the severity and course of the illness varies from person to person.
Rudert ordered two tests: a genetic screen for CF and a sweat test. CF impairs the normal functioning of cells that make up the sweat glands and line the lungs, GI and reproductive tracts. People with CF normally have more chloride in their sweat than normal.
7073彩票登录 Knapp’s sweat test was normal, but genetic analysis revealed the presence of a single gene that is most commonly associated with CF: a . Rudert believed that Knapp’s long-standing symptoms indicated that he was probably suffering from atypical cystic fibrosis.
“Sometimes these things start off very mild and worsen over time,” Rudert said. “He was on the course where this was gradually getting worse. But nobody connected the dots.” Finally, at 55, Knapp, who has no children, learned the reason for a lifetime of poor health.
7073彩票登录 Rudert said that she is concerned that adults such as Knapp may go undiagnosed because doctors are unaware of the existence of of the disease.
7073彩票登录 Knapp experienced this firsthand when he told a neighbor who is a physician that he was undergoing testing for CF.
“I thought that was only diagnosed in children,” he remembered his neighbor saying.
Several months after receiving the results of the genetic test, Knapp became a patient at Emory .
7073彩票登录 Despite his continuing cough, Knapp’s lungs are in decent shape. He continues to struggle with digestive problems related to his pancreatic insufficiency. So far, he has managed to avoid other metabolic complications of CF, including diabetes. He estimates that the drugs he takes to manage his condition cost his insurance company about $120,000 a a year.