As Dr. Hossein Sadeghi patiently tries to measure 5-month-old Charlie Reynolds' heart rate and oxygen saturation, Charlie happily squirms and squeals, making a reliable reading temporarily elusive for Stamford Hospital's director of pediatric pulmonology.

"He is so excited, he thinks this is fun," says the boy's mother, Beth, while holding her son, who has pronounced wheezing from a cold that doesn't seem to bother him but resulted in a couple of sleepless nights for his parents and a weekend appointment with Sadeghi a few days earlier. "He also likes to flirt," says his father, Mike, who stands nearby with the couple's 2-year-old daughter, Ruthie. "If there is a woman in the room, he puts the charm on." Even with smiles, distress shows in the parents' eyes. Charlie Reynolds, who is gathered with his family in Sadeghi's office for a scheduled monthly checkup, has cystic fibrosis, a chronic, progressive and usually fatal disease that affects lung function and digestion and is inherited from parents who carry the defective CF gene. According to the Cystic Fibrosis Foundation, the median age of survival is 37, and about 10 million people in the U.S. carry the gene but do not have the disease. One thousand babies are born annually with CF, which is characterized by abnormally thick mucus that builds up in the lungs and blocks the airways, making it difficult to breathe and easy for bacteria to grow. Caused by the body's high concentration of salt, the mucus from CF increases

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the risk of repeated lung infections, which, over time, can lead to lung damage. The thick mucus also can affect the digestive system by blocking digestive enzymes from helping the body absorb the fats, proteins and other nutrients it needs. It is because of the boy's CF that Beth and Mike Reynolds worry about his continued cold symptoms and the possibility that these could lead to an infection that requires hospitalization. Still, Sadeghi's calm demeanor invites all their questions and comments about the boy's daily care: detailed descriptions of his sleeping and feeding patterns; his response to the antibiotic and anti-inflammatory medications, vitamins, supplements and enzymes he must take; and the effectiveness of the chest physical therapy his father has learned to give him. In the meantime, Sadeghi checks the infant's ears and nose, listens to his breathing and measures his growth and weight gain, with the help of pediatric nurse Luan Shea. And though he diagnoses bronchiolitis, a common lung infection, particularly among young children with CF, he assures the Reynoldses that their son is thriving and the worst of the cold is over. What follows as part of the checkup, unique to Sadeghi's new Cystic Fibrosis Care, based at the hospital's Tully Health Center, are successive consultations with the program's social worker, dietitian and respiratory therapist. Annette Maiberger, the social worker, focuses on the emotional well-being of the rest of the family by asking Beth Reynolds about Ruthie, who does not have CF, nor is she a carrier; the family's holiday vacation; and if she and her husband are able to find time for themselves. Dietitian Paula Meyer asks the Reynoldses about Charlie's eating preferences and covers how to introduce rice cereal to the boy's diet. The respiratory therapist, Annette Nieves, recommends wrist-strengthening exercises to help Mike avoid fatigue while administering Charlie's daily chest physical therapy. The three, who also meet with Sadeghi, Shea and a pulmonary technician weekly to go over CF patients' treatments and progress, make up part of a larger multidisciplinary team that also includes a gastroenterologist, endocrinologist, infectious disease specialist and genetic counselor. According to Sadeghi, the team approach to CF Care allows all of them to better understand the varied symptoms associated with CF, which can include susceptibility to respiratory infection, sinusitis, nasal polyps, chronic coughing, abdominal pain, liver disease, diabetes and pancreatitis, among others. Looking at the whole picture helps support a patient's normal growth and lung function while slowing the progression of the disease, he says. "Because cystic fibrosis has different symptoms, complicated by how much lungs are obstructed and digestion is affected, different specialists are needed for complete treatment," says Sadeghi. The program, he continues, also offers support to patients' families with regard to managing stress, treatment, explaining CF to others, financial questions, navigating insurance and relationships. Having all the specialists available nearby and in one place helps minimize stress for families, says Sadeghi. "Complications can happen suddenly and visits are frequent after diagnosis," says Sadeghi. "If families have to travel long distances to get whole CF care — Columbia or Yale — there is added stress to the family."

Darlene Pickering, whose daughter, Jessica, has CF, knows what it is like to travel to New Haven to get care for her 12-year-old, who was diagnosed as an infant. "It's an all-day affair, sometimes more if you can't get everyone you need to see," says the New Canaan single mom. "By having this, the care can be aggressive, but it is also kind and gentle. They are open to more information and give you more information. As parents, we become more knowledgeable about CF and how to care for the child." Pickering describes her daughter's three-week hospitalization that ended with a diagnosis. Until then, she had not been gaining weight, had frequent respiratory infections and constant congestion. "She had a hard time eating and breathing," she says. "For a while they thought it was respiratory syncytial virus (a common cause of childhood lower respiratory tract infections). Then they thought she was lactose intolerant, so they put her on a soy diet. Still, she wasn't gaining weight and they had her on a feeding tube and oxygen. "One day, a friend said to me, 'Have you thought about CF? Kiss her and see if she [tastes] salty.' So I did it and she was [salty]." Such a scenario, says Sadeghi, could be avoided if all newborns were screened for CF, an option not required in Connecticut but now offered through the program. "If we had that, we would have learned how to cope with CF from the beginning," says Pickering. Beth Reynolds recalls being offered a screening when Ruthie was born. At the time, the family was living in Virginia. But it wasnt until she was pregnant with Charlie, after moving to Stamford, that she was tested by her obstetrician. News that the Reynoldses were carriers led to amniotic testing and Charlie's eventual diagnosis. "Our pediatrician recommended Dr. Sadeghi so we could prepare," says Beth Reynolds. Sadeghi concedes news of CF, before birth, can be frightening, but with the knowledge come education and preparation for the child's care.

"With newborn screening, you improve the quality of life and increase that child's life span by maximizing respiratory function and nutrition," he says. "You also reduce anxiety so when symptoms present, you can take action. You know what it is, what to do."