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'Real World' Alum's Death Raises Question: Just What Is Cystic Fibrosis?

Frankie Abernathy suffered from genetic disease that affects lungs, digestive system.

The death last weekend of 25-year-old Frankie Abernathy, the former "Real World: San Diego" housemate whose struggle with cystic fibrosis was chronicled over the course of that season, has brought the ongoing struggle against the inherited, unremitting disease to the national spotlight. But just what is cystic fibrosis?

MTV News tracked down Leslie Hazle -- director of patient resources at the Cystic Fibrosis Foundation (CFF.org) -- to learn more about the disease.

In very basic terms, cystic fibrosis -- which affects 30,000 children and adults in the United States alone, and more than 70,000 worldwide -- is a genetic disorder that affects the lungs and digestive system. A defective gene and its protein product cause the body to produce unusually thick, sticky mucus that can clog the lungs, lead to life-threatening lung infections, obstruct the pancreas and stop natural enzymes from helping the body break down and absorb food.

"It's something you're born with," Hazle said. "It causes problems with the lungs, problems when they blow their nose, problems when they eat. The mucus-producing glands are also in the pancreas, or in the ducts from the pancreas into the small intestine, so it blocks the pancreatic enzymes that help break down fats and proteins and starches so that the body can absorb it. If somebody with CF's pancreas is affected, they can't absorb fat. Any fat they eat goes straight through them, and they have what is called malabsorption."

In other words, their bodies do not absorb the nutrients from the food they consume, and the bodies of affected individuals do not grow as they should. Before newborn screenings were available, most children "were diagnosed with CF because they were smaller and weren't growing like they should have been," Hazle explained.

The median predictive survival rate is now at over 37 years old. But when Hazle started in the 1980s, caring for children afflicted with cystic fibrosis, it was about 18 years of age, so there have been significant medical advancements in the treatment of the disease. In most cases, it's not the disease itself that kills, but respiratory failure, directly caused by cystic fibrosis.

Those who've been diagnosed as having CF often suffer from very salty-tasting skin, persistent coughing, frequent lung infections, wheezing or shortness of breath, poor growth and weight gain, and frequent or difficult bowel movements. About 1,000 new cases of cystic fibrosis are diagnosed each year, and more than 70 percent of patients are diagnosed by age 2.

According to Frankie's mother, Abbie Hunter, the former "Real World: San Diego" fixture was considering a lung transplant to help her combat the disease (see [article id="1562302"]" 'Real World: San Diego' Alum Frankie Abernathy Dead At 25"[/article] and [article id="1562550"]" 'Real World: San Diego' Cast Says Frankie Abernathy 'Lived Every Day To The Fullest' "[/article]). Hazle said this is one of many treatment options available to CF patients -- but none of them are what any person would consider easy.

"At the end of the viability of their lungs [for people] that have CF, lung transplant is an option," she said. "As with any transplanted organ, the more they're done, the better the survival rate is. The biggest treatment burden -- or the most stuff that has to be done -- is done at home. The majority of people with CF have to take pancreatic enzymes, which are capsules -- they're a fair size -- and they have to take three to five to seven [of these pills] every time they eat, depending on what they eat.

"There's a lot of medicine to take. It's a heavy medication regime," Hazle continued. "They also have vitamins they have to take. Because of the problem with the pancreas, they don't absorb the vitamins that are fat-soluble as easily as someone without CF. Then, you run into medicines that they take to help open up their lungs. It's basically medicine that's aerosolized into small enough particles that they can breathe down into their lungs. There are also three or four maintenance medicines they have to take every day, whether they are sick or well. There's also an inhaled antibiotic, and others they can take by mouth when they get sick. If they're sick enough, they may need antibiotics intravenously."

Also, CF patients are encouraged to exercise, which keeps the lungs healthy, and often perform a number of techniques -- at least 30 minutes daily -- or utilize equipment that vibrates the mucus in their lungs loose so they can cough it up.

"It's not easy living with this disease," she said. "It can take a couple of hours a day to do your aerosolized medicines, your airway clearance. And these patients need to eat 30 to 50 percent more calories than the average person," because of their pancreatic deficiencies, "so they need more food and need to plan out how to get more calories without making them eat two full meals when they can't, because their stomachs aren't big enough."

So how close are scientists to finding a cure for CF? Hazle said it's possible a cure will come in time, but how soon, she can't even begin to speculate.

"We are investigating a number of drugs and trying to develop to find out what's going to be the best treatment," she said. "A technical single cure would have to be a gene therapy. We're not there yet. But it could be maybe like with asthma -- you just have a regular medication regime that you do. And it's not that people die from CF, but if people die who have CF, it would be like somebody who's older who has asthma: Asthma's not what they died from. They're someone with asthma who died. That's where we're striving to get to."

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