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Q&A with Dr. Schroeder on Cystic Fibrosis

05/01/2018

Dr. Scott ShroederCystic fibrosis is an incredibly complex disease, and you may feel confused or even scared if your child is diagnosed with it. At the Pediatric Pulmonology and Allergy Division at Floating Hospital, we help kids (and parents) breathe easy. Our team of dedicated and experienced clinicians, led by Dr. Scott Schroeder, provides specialized care for every respiratory problem, including cystic fibrosis.

We asked Dr. Schroeder to tell us more about cystic fibrosis and how it's treated here at Floating Hospital.

Q: What is Cystic Fibrosis (CF)?

A: CF is an inherited disease that causes certain glands in the body not to work properly. Because the specific glands don’t work appropriately, children with CF can sweat excessively, the lungs make excessively sticky mucus, and in the intestines and pancreas there can be problems with digestion and absorption of food.

Q: Are there different types of CF? 

A: Yes, CF is a genetic disease and there are persons with mild disease, persons with only lung disease, persons with only GI disease, and there are differences when the symptoms appear. In most people the lungs are the most affected part of the body and in others it is the GI system.

Q: How does a child get CF?

A: Every child with CF is born with CF. More than 10 million people in the US carry one copy of an abnormal CF gene and if they have one copy of an abnormal CF gene do not have CF. A person with CF needs two abnormal copies of the CF gene to have CF. Both parents of a child with CF are carriers of at least one abnormal CF gene. They inherited the gene from one of their parents who inherited it from one of their parents, etc.  When both parents carry an abnormal CF gene, their children will not always have CF. When both parents carry an abnormal CF gene, each of their babies has a ¼ chance of not being a carrier and not having CF, 2/4 have a chance of having the abnormal CF gene but they do not have CF, and ¼ have a chance of having CF. Are you confused yet? 

Q: Can parents be tested as a CF carrier?

A: Yes and no. There are over 2,000 different places in the CF gene that can be abnormal and there are tests that can test for the 40 most common abnormal genes. If there is a family history of CF, then it is easier to look for specific abnormal CF genes. Most laboratories only test for the most common mutations  since screening the general population would be difficult and expensive. 

Q: How common is CF?

A: There are about 30,000 people in the US with CF. It occurs about 1/3200 live births to families of European heritage, it occurs in about 1/15,000 children of African-American descent, and i/90,000 among Asian-American and Native-Americans.  It is being seen more often in Hispanics. It occurs equally in females and males.

Q: What are the signs and symptoms of CF?

A: In Massachusetts as well as the rest of the US, all babies are screened for CF on their newborn screening (NBS). Prior to NBS, babies would present with failure to gain weight, intestinal blockage in the newborn period (meconium ileus), chronic diarrhea or abnormal bowel movements, recurrent pneumonias, wheezing and cough. These signs and symptoms are seen in other diseases as well so if a clinician suspects that a person has CF, they will order a sweat test to confirm the diagnosis of CF. The oldest person that I have diagnosed was 81 years old but the vast majority of persons with CF are diagnosed before they are two years of age. 

Q: How is CF managed?

A: We see persons with CF on a regular basis and we have a team of care providers to help manage persons with CF. Because CF affects many parts of the body, we rely on the expertise of our nurses, physical therapists, other specialists, dieticians, social workers, psychologists, and most importantly the patient and their family to  help persons with CF stay healthy and active. Despite the amazing advances being made daily in the search for a cure of CF, it is disease that, dependent upon the severity of the symptoms, is still time-consuming to treat.  

Q: What makes the Floating Hospital care stand out?

A: We are a group of dedicated, caring individuals who focus on details and we know our patients well. We understand how hard it is to live with and to treat CF and we empathize with our patients and their families. We are dedicated to finding a cure for CF and improving the quality of life for those with CF.   We work closely with the CF foundation as well as other CF centers in New England to provide outstanding, compassionate, personalized care for persons with CF. 
Scott Schroeder, MD, Chief, Pulmonology and Allergy, Floating Hospital for Children on tuftsmedcalcenter.tv video.

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