Growing Up with CF
Packard clinic provides wraparound care for children with cycstic fibrosis

BY MARK SHWARTZ

FALL 2006 -- A diagnosis of cystic fibrosis (CF) can mean a lifetime of roundthe- clock therapy. This inherited disease, which affects about 30,000 children and adults in the United States, causes the body to produce abnormally thick secretions that can disrupt breathing and lead to serious infections that require a strict regimen of antibiotics, anti-inflammatories, nebulizers, dietary supplements, and other medications.

22-year-old Jennifer English was diagnosed with cystic fibrosis when she was just two weeks old. Packaard CF Clinic director Richard Moss, MD, has been treating her for more than two decades.

Sharon English-Gibson knows better than most what it's like to raise a child with CF. Her daughter, Jennifer, was diagnosed when she was just a few weeks old, and 22 years later, Jennifer's daily therapeutic routine is as demanding as ever.

"To keep her breathing passages clear, Jennifer has to flush her sinuses twice a day and complete two 30-minute sessions in a mechanical vest that vibrates her chest and breaks up the sputum in her lungs," English-Gibson says.

Jennifer also takes two antibiotics, one inhaled and one oral, every day, as well as enzyme supplements at breakfast, lunch, dinner, and snack time. Her health demands are complicated by the fact that she has cerebral palsy and severe brain damage, which resulted when a CF-related infection caused her intestines to burst two days before she was born.

Jennifer's health has improved in the last year -- a feat that her mom says she and her family could not have accomplished without the close attention provided by the staff at the Packard CF Clinic. "The overall care at the Clinic is great," she says. "They're very patient, and you really have to have a lot of patience with my daughter."

Clinic director Richard Moss, MD, has been treating Jennifer for more than two decades and has developed a special rapport with her. "She really likes Dr.Moss," English-Gibson says. "She's not very cooperative, so Dr.Moss plays little games with her, tells her jokes and gets her occupied so he can do the exam."

English-Gibson drives her daughter to the clinic four times a year from San Jose and credits Clinic nurse coordinator Katherine Boyle, RN, with making sure that they never miss a visit. "I get to know the families really well," Boyle says. "When they're not here, I'm available 24 hours a day by phone."

Care Team

It's all part of the continuity of care that Clinic staff provides CF patients throughout their lives, Boyle says. The goal is for the caregivers, the kids, and their family to manage the disease together. "We've had patients from all over the United States, including Hawaii and Florida," Boyle says. "They like coming here because of our team approach. Each patient is seen by pulmonary specialists, a nurse, a respiratory therapist, a social worker and a nutritionist."

CF Clinic nurse coordinator Katherine Boyle, RN, (right) confers with Beverly Cibrian who works at the Clinic's busy front desk.

It was a respiratory therapist who outfitted Jennifer with the mechanized vest when it first became available about a decade ago. And her mom credits the Clinic nutritionist with paying close attention to her daughter's dietary habits.

"What's unique about the CF Clinic is that we have approximately 110 pediatric patients and 170 adults, some in their 60s who were diagnosed late in life," Boyle says. "It's helpful for the kids to see older patients, because 50 years ago, a child with CF was lucky to make it to the first grade. Now, people are living into their 30s and beyond."

The median age of survival is about 37 -- up from 32 just five years ago, according to the Cystic Fibrosis Foundation. This dramatic improvement is largely attributable to early diagnosis and the introduction of new therapies, says CF Clinic physician Terry Robinson, MD.

"Since the CF gene was discovered in 1989, more than 1,300 different types of CF gene mutations have been identified, with symptoms that range from very mild to severe," he says.

With CF, glands that normally produce sweat, mucus and other secretions stop functioning properly and instead secrete a thick substance that clogs the lungs, forcing patients to use nebulizers and other mechanical devices to keep their airways clear.

Not Just Breathing Problems

This sticky substance can also smother the pancreas and block the release of special pancreatic enzymes essential for proper digestion. As a result, many CF patients have nutritional deficiencies that impair growth and prevent them from reaching their normal body weight. Pancreatic damage also can lead to CF-related diabetes, which may require supplemental insulin injections.

Seery sisters Emma, 7, and Sabrina, 9, both have a mild form of CF.

The abnormally thick mucus also can promote the buildup of bacteria in the lungs, which leads to serious pulmonary infections. In some cases, lung damage is so severe that a transplant is necessary to keep the patient alive.While a transplant is not a cure, it does prolong life, says Carol Conrad, MD, co-director of Packard’s Pediatric Pulmonary Function Lab. "What lung and heart-lung transplantations offer to the recipients is hope for five or 10 years of 'normal' living," Conrad says.

Early Diagnosis, New Treatments

Not all CF cases are severe. Sabrina Seery, 9, of Gilroy was diagnosed with CF three years ago.When she was very young, her doctor mistakenly assumed that she had a minor respiratory irritation. But when a new physician referred her to Packard in 2003, genetic tests soon revealed that Sabrina and her younger sister, Emma, had a mild form of the disease.

"Sabrina is typical of many CF patients who are misdiagnosed," says her mother, Margaret Seery. "Because of the treatments she and Emma have received here at Packard for the last three years, they're able to run, play and swim, so you can see how important early diagnosis is."

In fact, Packard is a national leader in diagnostic and therapeutic CF research. Clinic physicians and patients have participated in major clinical trials to evaluate new anti-inflammatories antibiotics and treatments for CF-related diabetes, as well as innovative studies using CT scans to identify early signs of pulmonary damage.

"We've come a long way with cystic fibrosis, but there's still a lot to be done," Robinson says. "We anticipate that with more aggressive treatment, the median age of survival for these kids could be 50 and older. All in all, we're very excited about the future."

Meet the Patients

Nathan Parks, age 18

Jenny Hoyland, age 11

Jonah Fong, age 4

Rachel Herrera, age 12