Cystic Fibrosis
by Yael Rosenberg, RN

   •  Description
   •  Symptoms
   •  Incidence and Carriers
   •  Treatment
   •  Testing
   •  Resources and More
   •  Support Group

Description
Cystic Fibrosis is an inherited disorder that causes problems with breathing and digestion. The majority of people stricken with Cystic Fibrosis are diagnosed in childhood.

Symptoms
   •   Chronic cough
   •   Wheezing
   •   Nasal polyps
   •   Excessive production of mucus
   •   Frequent pneumonia
   •   Foul smelling, clay color, pale, floating stools
   •   Salty sweat and skin
   •   Clubbing of the fingers and toes
   •   Easily fatigued
   •   Enlarged spleen
   •   Weight loss
   •   Delayed growth
   •   Men with Cystic Fibrosis are usually infertile.

Average survival is approximately 30 years.

Incidence and Carriers
Cystic Fibrosis affects approximately 30,000 children and young adults in the US. Cystic Fibrosis may occur in any nationality or ethnic group. One in twenty five Caucasians in the United States is a carrier. One in twenty nine Ashkenazi Jews is a carrier. This carrier frequency makes Cystic Fibrosis about as common in Ashkenazi Jews as Tay-Sachs Disease. Actually Ashkenazi Jews are at a lower risk of being carriers than any other ethnic population.

The disease is transmitted through heredity. Both parents have to carry the Cystic Fibrosis gene for there to be a possibility of transmission to their child. If both parents are carriers:
   •  There is a one in four chance that the child will inherit the Cystic Fibrosis gene from each parent and have the disease
   •  There is a one in four chance that the child will inherit normal genes from both parents and be completely free of the disease.
   •  There is a two in four chance the child will inherit one of each kind of gene and be a carrier like the parents, and free of the disease.

Treatment
   •  Medications: Antibiotics for infections, pancreatic enzymes (occasionally mucomyst is used to thin secretions)
   •  Ibuprofen – This painkiller has been shown on studies to slow lung deterioration in children ages five to thirteen.
   •  Breathing Treatments: Percussions, and postural drainage.
   •  Lung Transplant: May be an option in some cases
   •  Genetic Research - Clinical Trials are now being conducted on inhalation therapies and gene transfer therapy.

Testing
Diagnosis: Immunoreactive Trypsinogen Test (IRT) is used for newborns who do not produce enough sweat for the sweat test. In the IRT test, blood drawn 2 to 3 days after birth is analyzed for a specific protein called trypsinogen. Positive IRT tests must be confirmed by sweat and other tests. 

Sweat test will show high levels of salt in sweat.

Chest X rays, lung function tests, sputum (phlegm) cultures, and stool examinations to help identify typical digestive abnormalities. 
 
Carrier screening and DNA analysis are used to detect the CF gene mutations (able to detect about 97% of Ashkenazi gene mutations). - To have cystic fibrosis, a child must inherit one copy of the defective CF gene from each parent.

Resources and More
NYU Medical Center Human Genetics Program
550 First Avenue, Room MSB 136,
New York, New York 10016
Telephone: (212)263-5746
Fax: (212)263-7590

The Victor Center for Jewish Genetic Diseases
Albert Einstein Medical Center
5501 Old York Road, Levy 2 West
Philadelphia, PA 19141
(215) 456-8722

Mount Sinai School of Medicine Diagnostic Testing Laboratory
Tel: 212-241-6947

Genzyme Genetics Molecular Diagnostic Laboratory
Tel: (800) 255-7357

LabCorp Molecular Biology
Tel: (800) 345-4363

Quest Diagnostics, Inc. Molecular Genetics Laboratory
Tel: (800) 642-4657

Modern Diagnostic Laboratory (Laboratory is a blood drawing station for "Dor Yeshorim")
Tel: 718-837-5222
Tel: 718-837-LAB2
Fax: 718-259-0088
Outside 718 area code Call 800-98-MODERN
E-mail address: moderndiag@gmail.com

Support Groups
Cystic Fibrosis Foundation
6931 Arlington Rd.
Bethesda, MD 20814
Toll Free: 800-FIGHTCF
Telephone: 301-951-4422
Fax: 301-951-6378

For adult cystic fibrosis treatment
Presbyterian Medical Center
51 N. 39th Street
1st Floor, Philadelphia Heart Institute Building
Philadelphia, PA 19104

International Cystic Fibrosis Support Group http://cf.conncoll.edu/index1.html

Cystic Fibrosis-Reaching Out Foundation, Inc.
PO Box 870747
Stone Mountain, GA 30087
770-381-3710
770-564-2331 FAX
info@ReachingOutFoundation.org 
http://www.ReachingOutFoundation.org