Accredited by the Cystic Fibrosis Foundation since 1990, the Cystic Fibrosis Center at Stony Brook Children's oversees the care of more than 100 patients, from birth through adulthood. It is one of only 115 Centers accredited by the Cystic Fibrosis Foundation. The Center includes a multidisciplinary team of physicians, cystic fibrosis nurse practitioners, respiratory and pulmonary therapists, social workers, nutritionists, and genetic counselors who care for patients and their families.
The Cystic Fibrosis Team
The Pediatric Pulmonary team is led by Catherine Kier, MD, a highly respected physician/researcher/educator. She and other pediatric pulmonogist, Katharine Kevill, MD work with two pediatric nurse practitioners and a group of dedicated medical professionals to provide comprehensive, individualized care for patients starting with the initial assessment and diagnosis through setting a plan of treatment and performing interventions and follow-up care. In the case of cystic fibrosis (CF), where more and more patients are living well into adulthood, this follow-up care can last the course of their lifespan. The team also works closely with other departments throughout the hospital including pediatric hematology/oncology, pediatric gastroenterology, pediatric endocrinology, the neonatal intensive care unit and the pediatric intensive care unit.
In addition to serving patients, all members of the clinical team are engaged in pediatric pulmonary research and education. Meet the team:
Catherine Kier, MD, Division Chief
Barry Diener, MD
Mathew Ednick, DO
Katharine Kevill, MD
Lisa Romard, NP
Teresa Stables-Carney, NP
For information, call: (631)-444-8340
For appointments, call (631)-444-KIDS
FAQ's About Cystic Fibrosis
FAQ's About Cystic Fibrosis:
What is Cystic Fibrosis?
Cystic Fibrosis is a genetic disease. An individual must inherit two defective copies of the Cystic Fibrosis gene -- one from the mother and one from the father -- to have Cystic Fibrosis. Individuals who only have one defective Cystic Fibrosis gene are called Cystic Fibrosis "carriers" and have no Cystic Fibrosis symptoms.
What happens to a person with Cystic Fibrosis?
A person with Cystic Fibrosis has a problem with the transport of salt and fluid within the cells lining most body organs such as lungs and pancreas. The body produces abnormally thick, sticky mucus. In the lungs, thick mucus clogs the air tubes causing respiratory symptoms (cough and trouble breathing) and repeated infections. In the pancreas, the tubes are blocked preventing the enzymes to reach the intestines. Without enzymes, food (especially fat) is not properly digested.
What are the symptoms of Cystic Fibrosis?
Cystic Fibrosis presents with a variety of symptoms. The most common are repeated respiratory infections, persistent cough and wheezing, and poor weight gain with greasy, foul smelling stools. A Cystic Fibrosis person also has salty tasting skin because of a high level of salt in the sweat. This is the basis for the sweat test to diagnose Cystic Fibrosis.
What increases your risk of Cystic Fibrosis?
Each time two carriers conceive a child, there is a 25% chance that the child will have Cystic Fibrosis; a 50% chance that the child will be a carrier; and a 25% chance that the child will be a non-carrier.
There are about 30,000 people who have Cystic Fibrosis in the United States. Another 6 million are Cystic Fibrosis carriers. Cystic Fibrosis affects 1 out of every 3,000 Caucasians. The risk is lower in other races: 1 out of 13,000 African Americans and 1 out of every 32,000 Asian Americans.
How is Cystic Fibrosis diagnosed?
A physician usually suspects Cystic Fibrosis based on symptoms or a family history of Cystic Fibrosis. The standard diagnostic test for Cystic Fibrosis is the sweat test. This is a simple and painless test.
Genetic testing is available for Cystic Fibrosis. This is a blood test that looks for defective Cystic Fibrosis genes (called Cystic Fibrosis mutations). It is a positive test when two Cystic Fibrosis mutations are found. A negative test does not totally rule out Cystic Fibrosis.
Mandatory newborn screenings for Cystic Fibrosis started in New York State in 2002. A baby may be diagnosed with Cystic Fibrosis even prior to symptoms, beneficial because an earlier diagnosis can lead to improved survival and quality of life.
Who treats a Cystic Fibrosis patient?
A Cystic Fibrosis patient is referred to a Cystic Fibrosis Center after diagnosis. There are 115 accredited Cystic Fibrosis Centers in the US
A person with Cystic Fibrosis is treated at the Cystic Fibrosis Center every three months or more often as needed. The primary care physician is also involved in the care of the Cystic Fibrosis patient.
Blood tests, chest x-rays, pulmonary function testing, and sputum cultures are obtained on a regular basis.
How do you treat Cystic Fibrosis?
The treatment of Cystic Fibrosis depends upon the stage of the disease and which organs are affected. Getting the thick mucus out of the lungs (airway clearance) is very important. There a different techniques to do so, including chest physical therapy and using the Vest Airway Clearance System (VEST) to draw mucus from the lungs.. Nebulizer treatments are given to help open the airways and control the lung infection. In addition, regular nutritional evaluation is important to provide a regimen for an adequate Cystic Fibrosis diet, enzyme and vitamin supplementation, as well as weight and growth monitoring.
Antibiotics are used to treat lung infections and may be given by mouth, through inhalation treatment, or given intravenously depending on the particular need.
How do you prevent and cure Cystic Fibrosis?
Currently, there is no way to prevent Cystic Fibrosis and to cure Cystic Fibrosis. Genetic counseling is available to determine the family's chances of passing Cystic Fibrosis to their children. Prospective parents can opt for genetic testing as well as prenatal testing.
Research is ongoing in the hope to find a cure for Cystic Fibrosis in the future.
CF Care Guidelines
The CF Foundation is a leader in efforts to advance and promote care that improves lives of people with Cystic Fibrosis. Care guidelines are created bringing together committees of experts including doctors, nurses, respiratory therapists, dieticians and CF families. CF Care Guidelines are available discussing diagnosis, nutrition, gastrointestinal issues, respiratory care, infection control, age-specific care and antioxidants along with supporting material.
CF Care Guidelines
The CF Foundation: www.cff.org
CF discussion and information: www.cysticfibrosis.com
CF information resource: www.mycysticfibrosis.com
CF reference: www.ygyh.org/cf/whatisit.htm
Starbright Foundation: www.starbright.org
Pulmozyme Inhalation Solution and CF information : www.pulmozyme.com
Tobramycin Inhalation Solution and CF information: www.abouttobi.com
Vest Airway Clearance System: www.thevest.com