Cystic fibrosis (CF) is an inherited condition caused by a defective gene (CFTR – Cystic Fibrosis Transmembrane Conductance Regulator) which causes the body to produce abnormally thick and sticky fluid, called mucus. This mucus builds up in the breathing passages of the lungs and in the pancreas, the organ that helps to break down and absorb food. This collection of sticky mucus results in life-threatening lung infections and serious digestion problems. The disease may also affect the sweat glands and a man’s reproductive system. Millions of Americans carry the defective CF gene, but do not have any symptoms. That’s because a person with CF must inherit two defective CF genes – one from each parent. An estimated 1 in 29 Caucasian Americans has the CF gene. The disease is the most common, deadly, inherited disorder affecting Caucasians in the United States. It’s more common among those of Northern or Central European descent. Most children with CF are diagnosed by age 2. A small number, however, are not diagnosed until age 18 or older. Occasionally, relatively mild symptoms may lead to frequent misdiagnosis or no diagnosis at all unless the symptoms become worse. The condition may be misdiagnosed as emphysema, asthma or chronic bronchitis. These patients usually have a milder form of the disease. About 30,000 Americans and 70,000 people worldwide are living with cystic fibrosis. Only a few decades ago, children with CF seldom survived elementary school. Today, thanks to earlier diagnosis and improved treatments, the median survival for those with CF is 47 years of age. With new, novel therapies known as CFTR modifiers this number is likely to climb.
Dr. Schaefer helped to establish the Adult Cystic Fibrosis Program at the UMass-Memorial Medical Center. He sees patients with CF at the CF Center at UMass-Memorial University campus, as well as in MLA’s Worcester office.
UMass-Memorial / UMass Chan Medical School Adult Cystic Fibrosis Program
The UMass-Memorial Adult Cystic Fibrosis Center, accredited by the national Cystic Fibrosis Foundation, specializes in the management of adults with cystic fibrosis. We provide a team approach to care that includes medical, nurse, registered dietician, physical therapy, social worker, and respiratory therapy cystic fibrosis specialists. We collaborate closely with our colleagues in the UMass-Memorial Pediatric Cystic Fibrosis Center to assist adolescents and young adults in the transition from pediatric to adult care.
- Comprehensive cystic fibrosis diagnosis including sweat testing and blood testing for all known mutations related to cystic fibrosis.
- Full range of treatments for all complications related to cystic fibrosis, including those involving the respiratory, sinus, digestive, endocrine, and reproductive systems.
- Up to date therapeutics including use of the newest CFTR Modulators
- Management of cystic fibrosis lung disease, including mucus clearance techniques, mucolytics, and preventive therapy for patients infected with pseudomonas.
- Comprehensive nutrition counseling and care, including pancreatic enzyme replacement therapy, screening for and repletion of vitamin deficiencies.
- Bronchoscopy is a procedure used to visualize the inside of the airways (bronchial tubes). It is used for both diagnostic and therapeutic purposes. The bronchoscope is a flexible instrument that is inserted into the airways, usually through the nose or mouth. It has both a light source and digital camera at its end. This allows the physician to examine the patient’s airways for abnormalities such as tumors, bleeding, foreign bodies, or inflammation. At the time of the bronchoscopy specimens may be taken from inside the lungs such as biopsies, fluid, or brushings. The procedure can be accomplished as an outpatient with the use of sedation, similar to that used for a colonoscopy.You may be referred to MLA by your physician for abnormalities such as a nodule or mass found on an x-ray or CT scan, or for the evaluation of persistent or recurrent pneumonia. Your MLA physician will review all the specifics of this test if he or she decides this would be the best study for you.
- Close collaboration with Nutrition, Psychology, Respiratory Therapy, Gastroenterology, Endocrinology (diabetes), Transplant Surgery and Palliative Care.