Few children with cystic fibrosis in the 1950s lived to attend elementary school, let alone their senior prom.
Scientists didn't discover that the root cause of the disease is a defective gene until 1989. Since that discovery, the median survival age has jumped from just shy of 22 years old in 1983 to 37 years old in 2006.
While researchers continue to work toward a cure, just knowing what causes the disease has made for significant advancements.
Medical treatments and behavioral modifications greatly enhance patients' quality of life, said Laurie Fink, director of media relations for the Cystic Fibrosis Foundation. In fact, more than 40 percent of the 30,000 Americans who suffer from the disease are 18 years of age or older.
The defective gene at the root of cystic fibrosis causes the body to create excessive, thick mucus. The mucus can cause life-threatening lung infections, block the pancreas and interrupt the breakdown and absorption of food, according to information provided by the Cystic Fibrosis Foundation.
The foundation formed in 1955, fueling improvements in early diagnosis, preventative treatment and long-term research, to the benefit of those with the disease, Fink said.
Testing for both symptomless carriers and those who have cystic fibrosis has flourished in recent years, so that now the majority of cases are diagnosed by the time a child is 2 years old. Today, 39 states, including Massachusetts and New Hampshire, and the District of Columbia, require newborn testing, Fink said.
Both children and parents benefit from early detection, said Yuliya Mandel, a family practitioner at Merrimack Valley Hospital in Haverhill.
"There's more awareness now that they've started newborn testing," Mandel said. "It allows professionals to diagnose early, which is important for families to adjust and cope with the disease, think about how they're going to approach treatment."
Individualized treatment focuses on helping a patient live more comfortably and slow down the disease's progression. Many preventative measures are behavioral, like following a high-calorie, high-fat diet, or taking certain vitamin, mineral and pancreatic enzyme supplements. Those with cystic fibrosis also are advised to stay away from smokers, according to the foundation.
"It's very important for the individual to get support from the community and peers and classmates," Mandel said. "It's easier on the child, and they then are not so isolated."
A common treatment is to trigger strong coughs to loosen and clear mucus from airways. Medicine can be delivered through dose inhalers or nebulizers. And antibiotics are used to fight infection-causing bacteria, according to the foundation.
When severe lung disease sets in, some patients opt for a lung transplant. But a shortage of organs makes it difficult to get into the operating room.
Many more treatments and medications are being tested by the foundation, including a drug that would alter the coding of the faulty gene and protein that create the mucus, Mandel said.
"For the first time in the history of the disease, the (foundation's) pipeline has therapies under development that target the root cause of cystic fibrosis," Fink wrote in an e-mail. "If successful, these therapies will add decades of life for people with CF."
For more information, go to the Cystic Fibrosis Foundation Web site, cff.org, which also was used as a source for this story, or call 800-757-0203.
