Physician at Work: Living longer with cystic fibrosis

Early identification and diligent treatment are making a difference

When Marie E. Egan, MD, first started practicing medicine, children with cystic fibrosis typically weren’t diagnosed until they had symptoms and often didn’t live beyond childhood. Today, every newborn in the United States is screened for the disease, and Dr. Egan can reasonably expect every patient she sees to live well into adulthood.

The difference today is that children who are identified early can begin respiratory therapy before they are weakened by built-up mucus and debilitating lung infections. Dr. Egan sees newborns diagnosed with cystic fibrosis every month or two–often more frequently than their pediatricians see them. “We’re very aggressive at making sure kids are gaining weight and getting adequate pancreatic enzymes if they have pancreatic insufficiency, which most patients do,” she said.

Cystic fibrosis causes the production of thick mucus that can clog the pancreatic ducts and intestines, as well as the lungs. Dr. Egan and her colleagues teach a number of airway clearance techniques, and expect families to start using them before the child develops a cough or other symptoms. “Our practice is multidisciplinary, and we have a team approach to care that includes patients and family members,” she said.

Patients and families are taught chest percussion, where the caregiver claps on different areas of the chest to loosen mucus. For a newborn, a onesie labeled with numbers corresponding to the lobes of the lungs helps parents locate the correct spots. For older children, there are also newer techniques involving a compressor attached to a vest that vibrates at different frequencies to loosen mucus in the small airways. This technique is often combined with active cycle breathing techniques to move the mucus to more central airways so it can be coughed up.

“It’s really important that people do their therapies daily at home,” said Dr. Egan. “Otherwise organisms grow in the lungs, thriving on mucus in the altered cystic fibrosis micro-environment.” While she is well aware that airway clearance is time consuming—it takes 20 to 30 minutes two or three times a day—Dr. Egan finds children do better when they take an active role in the process.

Several years ago, a 7-year-old patient presented Dr. Egan with a book about cystic fibrosis that he had written and illustrated. She was amazed at his grasp of the disease, including his understanding that it is hereditary, his advice on how people with cystic fibrosis can stay healthy, and a chapter on the possibility that one day cystic fibrosis will be history. “If I’m having a bad day I pull the book out,” she said. “Sometimes it brings tears, but sometimes it just brings a smile to my face.”

One of the reasons Dr. Egan is drawn to pediatric pulmonary medicine is that it gives her the opportunity to practice a different skill set, and work with patients who are both acutely and chronically ill, as well as explore the scientific underpinnings of respiratory disease. She is currently working on an innovative project with Mark Saltzman, PhD, chairman of bioengineering for the Yale School of Medicine, and Peter Glazer, MD, PhD, chair of therapeutic radiology, that she describes as “molecular glue and scissors” to replace a mutated portion of DNA found in a majority of cystic fibrosis patients.

Although the technique is currently only being applied in cell cultures, one 10-year-old patient wrote her a letter encouraging her to work hard to perfect the therapy so that he could benefit from it by the time he was 12. “I’m tired of cystic fibrosis,” he wrote. “I don’t want it anymore.”

Name: Marie E. Egan, MD

Title: Associate professor of pediatrics (respiratory) and of cellular and molecular physiology; director, Pediatric Cystic Fibrosis Center

Area of expertise: Pediatric pulmonary medicine (asthma, bronchopulmonary dysplasia and cystic fibrosis)

Place of birth: Rockville Center, NY

College: University of Pennsylvania

Med School: Mount Sinai School of Medicine

Training: Internship/residency in pediatrics and fellowship in pediatric pulmonary medicine, Johns Hopkins Hospital

What is most challenging to you in academic medicine? Finding the time to get everything done

What is most rewarding? When one of my patients is not adhering to their daily cystic fibrosis care plan and they’re not doing the things they need to do to stay well, and suddenly the light goes off and they get it. Then, they are not letting cystic fibrosis run their lives, they’re running their cystic fibrosis.

What do you like most about your practice? Working with a team of highly motivated individuals

Personal interests or pastimes? Cooking, bike riding, gardening, kayaking, painting

Last book read:Cheating at Canasta, by William Trevor

What would you do to improve our clinical environment if you had a magic wand? It would be great if when we had a new project or program that we thought would improve things for patients, the first reaction from folks was “OK, how do we get this done?”