Cystic Fibrosis Theresa Brady January 9, 2006

Cystic Fibrosis What is it? What is it? How do you get it? How do you get it? How can you be tested for it? How can you be tested for it? Is there a cure? Is there a cure? Why you should care. Why you should care. Click to find out…

What is Cystic Fibrosis?  Genetic disease  Causes mucus build up in lungs  Victims must eat high-calorie and fat diet  Daily airway clearance therapy is needed  Affects about 30,000 people in the U.S.A.  About 1,000 new cases found each year  Many different symptoms  Over 1,000 mutations of the gene  Average life expectancy: years

What are the symptoms of Cystic Fibrosis?  Many different symptoms  Shortness of breath  Skin is salty to the taste  Big appetite, gain very little weight  Cough often (sometimes with phlegm) *symptoms vary from person to person

How do you get Cystic Fibrosis?  Inherit from parents (born with it)  Both parents must have a gene  Child must inherit one from each parent  When 2 carriers “conceive”:  25% offspring will have CF  25% offspring will not be a carrier  50% offspring will carry CF gene

When should people be tested for Cystic Fibrosis?  Should be tested as a baby  7 states screen for CF in all newborns  3 states only screen newborns in certain hospitals  Most cases are diagnosed by age 3  10% are diagnosed 18 years or older

Cystic Fibrosis Tests and Treatments

What are some tests and treatments for Cystic Fibrosis? Newborn Screening Newborn Screening Sweat test Sweat test Physical therapy Physical therapy Drug Treatment Drug Treatment TOBI ® (tobramycin solution for inhalation) TOBI ® (tobramycin solution for inhalation) Pulmozyme ® Pulmozyme ® 90% of those diagnosed with CF take pancreatic enzyme supplements 90% of those diagnosed with CF take pancreatic enzyme supplements Lung Transplant Lung Transplant

What is “newborn screening” and where is screening required? “Newborn Screening” is process of testing infants for CF “Newborn Screening” is process of testing infants for CF It is required in: It is required in: New York, New Jersey, Colorado, Massachusetts, Mississippi, Wisconsin, Wyoming New York, New Jersey, Colorado, Massachusetts, Mississippi, Wisconsin, Wyoming It is required in some hospitals in: It is required in some hospitals in: Connecticut, Montana, Pennsylvania Connecticut, Montana, Pennsylvania

Why is “newborn screening” so important? Scientific evidence states early diagnosis: Scientific evidence states early diagnosis: May increase life expectancy May increase life expectancy (30-40 years of age) (30-40 years of age) Allows for immediate aid to symptoms such as digestion and high calorie/fat diet Allows for immediate aid to symptoms such as digestion and high calorie/fat diet Improve height and weight function Improve height and weight function May help maintain respiratory function May help maintain respiratory function Reduce trips to the hospital Reduce trips to the hospital

Importance of “Newborn Screening” Reveals if further testing should be done to diagnose baby with CF Reveals if further testing should be done to diagnose baby with CF Proper care of infants can impact their nutritional status throughout childhood Proper care of infants can impact their nutritional status throughout childhood **CAN GROW AND DEVELOP TO FULL GENETIC POTENTIAL!

SWEAT TEST Standard test for those diagnosed with CF Measures amount of salt in sweat High level of salt = Cystic Fibrosis 40 mmol/L = does not have CF* mmol/L = borderline Over 60 mmol/L = has CF VVVValue of salt in a person’s sweat stays the same their whole life *(mmol/L = millimoles/Liters)

What does it mean to be “borderline”? Salt level falls between 40 and 60 mmol/L Salt level falls between 40 and 60 mmol/L Not very many cases Not very many cases More sweat tests are performed More sweat tests are performed Other tests may be done to diagnose a person with having CF or not having CF Other tests may be done to diagnose a person with having CF or not having CF

Physical Therapy Chest physical therapy Chest physical therapy Form of airway clearance Form of airway clearance Forceful clapping on back and chest Forceful clapping on back and chest Removes thick mucus from lungs Removes thick mucus from lungs

TOBI ® and Pulmozyme ® TOBI ® = aerosolized antibiotic treats lung infections TOBI ® = aerosolized antibiotic treats lung infections Pulmozyme ® = drug used to thin mucus, reduce lung infections, improve lung function Pulmozyme ® = drug used to thin mucus, reduce lung infections, improve lung function

Why should carriers be tested? Can tell through DNA if a person carries CF gene Can tell through DNA if a person carries CF gene Altered CF genes vary based on a persons ethnicity Altered CF genes vary based on a persons ethnicity Chance of carrying the gene is based on family history Chance of carrying the gene is based on family history 1 CF gene = you are a carrier of the gene 2 CF genes = you have CF

A Few Things You Should Know No cure has been found Over 10 million Americans carry a Cystic Fibrosis gene unknowingly Must inherit the gene from both parents to have Cystic Fibrosis CF gene can be traced throughout family history

Why It Matters To Me It matters to me because two of my cousins died from cystic fibrosis. Both were very young. One was 21 (Angelo) and the other was 37 (Lucia). They were brother and sister. Angelo was diagnosed when he was about 3 months old. Lucia was diagnosed with CF as an infant. She received a double lung transplant at the age of 35 and was able to participate in marathons and triathlons! This shows how early diagnosis and advanced treatment can lead to longer life. You can help by learning more about CF by visiting the Cystic Fibrosis Foundation’s website at Just by learning about it you can help make a difference and help in finding a possible cure.