Learn about cystic fibrosis, a genetic lung disorder that affects the pancreas and other organs, and how to treat and live with this chronic disease.
CF is a rare genetic disease found in about 30,000 people in the U.S. If you have CF or are considering testing for it, knowing about the role of genetics in CF can help you make informed decisions about your health care.
If you or your child has just been diagnosed with cystic fibrosis, or your doctor has recommended testing for CF, you may have many questions.
Diagnosing CF is a multistep process. A complete diagnostic evaluation should include a newborn screening, a sweat chloride test, a genetic or carrier test, and a clinical evaluation at a CF Foundation-accredited care center.
Raising a child with cystic fibrosis can bring up many questions because CF affects many aspects of your child’s life. Here you’ll find resources to help you manage your child’s daily needs and find the best possible CF care.
Living with cystic fibrosis comes with many challenges, including medical, social, and financial. By learning more about how you can manage your disease every day, you can ultimately help find a balance between your busy lifestyle and your CF care.
People with CF are living longer, healthier lives than ever before. As an adult with CF, you may reach key milestones you might not have considered. Planning for these life events requires careful thought as you make decisions that may impact your life.
People with cystic fibrosis are living longer and more fulfilling lives, thanks in part to specialized CF care and a range of treatment options.
Cystic Fibrosis Foundation-accredited care centers provide expert care and specialized disease management to people living with cystic fibrosis.
We provide funding for and accredit more than 120 care centers and 53 affiliate programs nationwide. The high quality of specialized care available throughout the care center network has led to the improved length and quality of life for people with CF.
The Cystic Fibrosis Foundation provides standard care guidelines based on the latest research, medical evidence, and consultation with experts on best practices.
As a clinician, you’re critical in helping people with CF maintain their quality of life. We’re committed to helping you partner with patients and their families by providing resources you can use to improve and continue to provide high-quality care.
As part of the Cystic Fibrosis Foundation's mission to help improve the lives of people living with cystic fibrosis, the PSDC initiative taps the CF community to inform key efforts to support the management of daily care.
Your cystic fibrosis care team includes a group of CF health care professionals who partner with you to provide specialized, comprehensive CF care.
Many cystic fibrosis patients and families face complicated issues related to getting the care they need. But CF Foundation Compass makes sure that no one has to do it alone.
For many people with cystic fibrosis, dealing with insurance is as much a part of living with the disease as nebulizers and vests. Many people with CF and their families face issues related to getting the care they need, but no one has to do it alone.
The Cystic Fibrosis Foundation is the world’s leader in the search for a cure for CF and supports a broad range of research initiatives to tackle the disease from all angles.
The CF Foundation offers a number of resources for learning about clinical trials and treatments that are being developed to improve the treatment of cystic fibrosis.
Our understanding of CF continues to evolve as scientists study what causes the disease and how it affects the body. These insights drive the development of new and better treatments and bring us one step closer to a cure.
Researchers, supported by the CF Foundation, have made tremendous advances to improve the health and quality of life of people with CF. We are committed to providing the tools and resources you need to continuously build upon this work.
Our goal is to educate policy makers about the needs of people with cystic fibrosis so that they make smart decisions about CF-related research, treatment, and access to care.
We recognize the value of tapping into the expertise that only people with CF and their families have. We invite you to share insights to help improve and develop programs and services that support the daily lives of people with CF.
Our mission is to find a cure for cystic fibrosis and improve the quality of life for those living with the disease. We can't do it alone. Help us add tomorrows by giving today.
In addition to working for a cure, the CF Foundation supports programs and policies to improve the lives of people with CF. Help us by raising awareness of CF, participating in a fundraising event, or volunteering with your local chapter.
Genetic (or carrier) testing not only plays a key role in the diagnosis of cystic fibrosis, but testing also allows parents to find out what their chances of having a child with CF are to help inform important family planning decisions.
To have cystic fibrosis, a child must inherit one copy of the cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation from each parent. People who have only one copy of a CFTR gene mutation do not have CF. They are called "CF carriers."
Each time two CF carriers have a child, the chances are:
People with CF can also pass copies of their CF gene mutations to their children. If someone with CF has a child with a CF carrier, the chances are:
Genetic testing can be used to tell if a person carries a mutation of the CFTR gene. The test looks at a person's DNA (genetic material), which is taken from cells in a blood sample or from cells that are gently scraped from inside the mouth.
More than 10 million Americans are carriers of one mutation of the CFTR gene. The chances of being a carrier of one CFTR mutation or having CF (with two CFTR disease-causing mutations) depend on race and ethnicity. CFTR gene mutations are most common
in Caucasian Americans (white people whose ancestors or family are from Europe).
About one in every 31 Americans is a symptomless carrier of the defective CFTR gene.
Only about one of every 3,000 Caucasian newborns has CF. We know there are more than 1,700 mutations of the CFTR gene. However, not all mutations cause CF. The ones that do cause CF are called "disease-causing" mutations. Current tests look for the most
common disease-causing mutations.
The decision to get a genetic test is a personal one. Medical professionals or other advisers can help guide your decision. The American College of Obstetricians and Gynecologists (ACOG) suggests that all couples who are
considering having a child -- or those who are already pregnant -- should be offered testing to find out if they are CF carriers.
A standard test recommended by ACOG looks for 23 of the most common disease-causing mutations. But, the exact mutations screened by the genetic test can vary according to a person's race or ethnic group, or if someone in the family has CF. If you have
a relative who has CF or is known to carry a mutation of the CFTR gene, your chances of carrying a mutation are greater because of your family's history.
Although Caucasians have a higher risk of carrying a mutation of the CFTR gene,
guidelines from the American College of Obstetricians and Gynecologists favor
testing for any woman who is thinking about getting pregnant. If you are pregnant or planning to have a child, you should discuss the genetic test and the results with a health care professional who is knowledgeable about genetic testing, such as
a genetic counselor.
In the United States, the number of people who carry a CFTR gene mutation is about:
In the United States, the number of people who have CF is about:
A positive carrier test result for CF means that a person has one mutation of the CFTR gene. A positive result is more than 99 percent accurate. A negative carrier test result is not as accurate. With more than 1,700 different mutations of the CFTR gene,
there are some rare disease-causing mutations that the test may not find.
If your test is negative for a mutation of the CFTR gene, there is still a small chance you could carry one CFTR mutation. The chance depends on your race or ethnic group and how many mutations the test looks for.
Because having one CFTR gene mutation does not cause symptoms, this mutation can be passed down to family members without anyone having the disease. Unless they have a child with CF, many people who are carriers do not know it.
If parents have had a child
diagnosed with CF, all of their children should be tested for the disease, whether they have symptoms or not. Other relatives also have a higher than average chance
of being carriers of a CFTR mutation. They may wish to get a genetic carrier test for CF or a
sweat test if they have symptoms of CF, based on their doctor's recommendations.
Certain types of CFTR mutations are associated with different symptoms of the disease. Researchers continue to study the relationship between CFTR mutations and how mild or severe an individual's CF symptoms are likely to be. For example, some mutations
are more likely to affect the gastrointestinal (GI) tract than the lungs. However, knowing an individual's CFTR mutations cannot fully tell you how severe that person's CF symptoms will be.
The most common CFTR mutation is F508del (sometimes called delta F508). F508del causes the most common CF symptoms. But the effects of this mutation can vary in different people, and some people with the F508del mutation may have more severe CF symptoms
Likewise, there are less common mutations that produce milder symptoms than F508del, while other rare mutations cause symptoms just as severe. Your doctor or genetic counselor can provide you with more detailed information about the specific mutation
that you carry, or provide you with more information about genetic testing.
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