Pediatric Pulmonology, Allergy, and Sleep Medicine
Armond V. Mascia, MD Cystic Fibrosis Center
The Armond V. Mascia, MD Cystic Fibrosis Center has been accredited by the Cystic Fibrosis Foundation for over forty years. Our Center is dedicated to excellence in patient care, education and research. Our center has a well established multidisciplinary team dedicated to patients with CF. Within our center, we have both pediatric and adult CF programs.
CF Center Staff:
What is Cystic Fibrosis?
Cystic fibrosis (CF) is an uncommon disease which affects the entire body, particularly the lungs, pancreas and gastrointestinal (GI) tract, and the reproductive tract. CF was first recognized in the 1930’s, and since then dramatic improvements in therapy have steadily improved the lives of people with this terrible disease. However, there is still no cure. Cystic Fibrosis is a genetic disease. All patients with CF have inherited mutations of the CF Gene (also known as CFTR) from both parents. Many people carry one mutation, referred to as carriers, and they have no symptoms. There are about 30,000 people who have CF in the United States. Cystic Fibrosis affects approximately 1 out of every 3,000 Caucasians. The risk is lower in other races.
How does CF cause illness?
The CF gene causes abnormal movement of salt and water into and out of cells. This results in abnormal mucus, particularly in the bronchial tubes (airways), in the pancreas, liver, GI tract, and the reproductive tract. There is an extraordinary amount of variability in symptoms between patients. Some patients are very ill in the first year of life, but others may not be diagnosed until adulthood. Because of sticky mucus in the ducts of the pancreas, most patients with CF have difficulty growing and gaining weight. Because of sticky mucus in the lungs, most patients develop chronic cough and other respiratory symptoms. Because of sticky mucus in the reproductive tract, many patients have difficulties with fertility.
How is CF diagnosed?
The most common test for CF is called a sweat test. Patients with CF do not sweat any more or less than other people, but the salt concentration is higher in the sweat. This test is tricky to perform accurately, and therefore it is essential that all sweat tests be performed at CF Centers such as ours that are accredited by the Cystic Fibrosis Foundation. Since the gene was discovered in 1989, more and more people are being diagnosed with genetic blood tests. These tests can miss CF and need to be interpreted very carefully. In the United States, almost all states have now added Cystic Fibrosis to the diseases routinely tested for in all newborns. Therefore in the future most patients will be diagnosed in the first couple of months of life, often before there are any symptoms. There are good reasons to believe that early diagnose will further add to the dramatic improvements in life expectancy that are occurring. However, these newborn screening programs are not perfect and rarely can miss the diagnosis. All newborn screening results should be confirmed with either repeat blood tests or sweat tests.
Why should patients with CF be cared for at our CF Center?
Since CF is relatively uncommon, many physicians know little about it or have very little experience. In recognition of this problem, families of patients with CF started the Cystic Fibrosis Foundation over fifty years ago. One of the goals of the foundation is to assure that there are experienced centers of excellence throughout the United States. There are now about 110 accredited CF Centers including ours. We believe that all patients with CF should be followed at an accredited center. The accreditation process is very rigorous and gives assurance that all patients with CF will be receiving state-of-the-art care. All CF Centers are dedicated to excellence in patient care, education, and research.
Our CF Center has a very experienced multidisciplinary team that stands ready to help patients of all ages. We have a beautiful modern office suite with easy access to laboratory and radiological procedures if they are needed. Like all accredited centers we have a long-standing quality improvement program. Since 40% of patients with CF are now adults, we have a well established adult program. In addition, our center is also a member of the CF Foundation Therapeutics Development Network. This additional level of accreditation assures that our patients have access to cutting edge clinical research.
Is our Center performing CF research?
Yes, all physicians at our CF Center are on the faculty of New York Medical College and research is a major part of our mission. We have two research coordinators and we are involved in research ranging from basic laboratory research to clinical trials of up and coming therapies, to epidemiological research.
How can I learn more about Cystic Fibrosis?
There is a wealth of information about CF on the internet, but like all topics, not all of the information is completely accurate. The single best resource is the Cystic Fibrosis Foundation. Their website is www.cff.org