Cystic FibrosisCystic Fibrosis

Theresa BradyTheresa Brady

January 9, 2006January 9, 2006

Cystic FibrosisCystic Fibrosis• What is it?What is it?

• How do you get it?How do you get it?• How can you be tested for How can you be tested for

it?it?• Is there a cure?Is there a cure?

• Why you should care.Why you should care.

Click to find out…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: 30-40 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 forCystic 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 FibrosisCystic Fibrosis

Tests and TreatmentsTests and Treatments

What are some tests and What are some tests and treatments for treatments for Cystic Cystic

FibrosisFibrosis?? Newborn ScreeningNewborn Screening Sweat testSweat test Physical therapyPhysical therapy Drug TreatmentDrug Treatment

TOBITOBI®® (tobramycin solution for inhalation) (tobramycin solution for inhalation) Pulmozyme Pulmozyme ®®

90% of those diagnosed with CF take 90% of those diagnosed with CF take pancreatic enzyme supplementspancreatic enzyme supplements

Lung Transplant Lung Transplant

What is “newborn screening” What is “newborn screening” and where is screening and where is screening

required?required? ““Newborn Screening” is process of Newborn Screening” is process of

testing infants for CFtesting infants for CF It is required in:It is required in:

New York, New Jersey, Colorado, New York, New Jersey, Colorado, Massachusetts, Mississippi, Massachusetts, Mississippi, Wisconsin, WyomingWisconsin, Wyoming

It is required in some hospitals in:It is required in some hospitals in:Connecticut, Montana, Connecticut, Montana,

PennsylvaniaPennsylvania

Why is “newborn screening” so Why is “newborn screening” so important?important?

Scientific evidence states early Scientific evidence states early diagnosis: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 Allows for immediate aid to symptoms

such as digestion and high calorie/fat such as digestion and high calorie/fat dietdiet

Improve height and weight functionImprove height and weight function May help maintain respiratory functionMay help maintain respiratory function Reduce trips to the hospitalReduce trips to the hospital

Importance of “Newborn Importance of “Newborn Screening”Screening”

Reveals if further testing should be Reveals if further testing should be done to diagnose baby with CFdone to diagnose baby with CF

Proper care of infants can impact Proper care of infants can impact their nutritional status throughout their nutritional status throughout childhoodchildhood

**CAN GROW AND DEVELOP TO **CAN GROW AND DEVELOP TO FULL FULL GENETIC POTENTIAL!GENETIC POTENTIAL!

SWEAT TESTSWEAT TEST

Standard test for those diagnosed with Standard test for those diagnosed with CFCF

Measures amount of salt in sweatMeasures amount of salt in sweatHigh level of salt = Cystic FibrosisHigh level of salt = Cystic Fibrosis

40 mmol/L = does not have CF*40 mmol/L = does not have CF*40-60 mmol/L = 40-60 mmol/L = borderlineborderlineOver 60 mmol/L = has CFOver 60 mmol/L = has CF

Value of salt in a person’s sweat stays Value of salt in a person’s sweat stays the same their whole lifethe same their whole life

*(mmol/L = millimoles/Liters)*(mmol/L = millimoles/Liters)

What does it mean to be What does it mean to be “borderline”?“borderline”?

Salt level falls between 40 and 60 Salt level falls between 40 and 60 mmol/Lmmol/L

Not very many casesNot very many casesMore sweat tests are performedMore sweat tests are performedOther tests may be done to diagnose Other tests may be done to diagnose

a person with having CF or not a person with having CF or not having CFhaving CF

Physical TherapyPhysical Therapy

Chest physical therapyChest physical therapy Form of airway clearanceForm of airway clearance Forceful clapping on back and chestForceful clapping on back and chest Removes thick mucus from lungsRemoves thick mucus from lungs

TOBITOBI®® and Pulmozymeand Pulmozyme®®

TOBITOBI®® = = aerosolized aerosolized antibiotic treats antibiotic treats lung infectionslung infections

PulmozymePulmozyme®® = = drug used to thin drug used to thin mucus, reduce lung mucus, reduce lung infections, improve infections, improve lung functionlung function

Why should carriers be tested?Why should carriers be tested?

Can tell through DNA if a person Can tell through DNA if a person carries CF genecarries CF gene

Altered CF genes vary based on Altered CF genes vary based on a persons ethnicitya persons ethnicity

Chance of carrying the gene is Chance of carrying the gene is based on family historybased on family history1 CF gene = you are a carrier of the gene1 CF gene = you are a carrier of the gene

2 CF genes = you have CF2 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 MeWhy It Matters To MeIt 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 www.cff.org. Just by learning about it you can help make a difference and help in finding a possible cure.