What is cystic fibrosis?
Cystic fibrosis (CF) is a disease that affects glands throughout the body. It mostly affects the lungs and the pancreas. The condition makes breathing difficult, causes lung infections and prevents normal digestion. It is an inherited (recessive genetic) disease. Each of us have 2 of each gene in our DNA – 1 copy from our mom and 1 copy from our dad. In CF, both parents pass down 1 copy of a genetic change (mutation) to the cystic fibrosis transmembrane conductance regulator (CFTR) gene. People with 2 copies of the mutation generally have CF.
The CFTR gene produces a protein that helps balance the salt and water levels on the surface of the lungs and other parts of the body. When the protein is not working properly, the body may produce thick, sticky mucus that can clog the lungs. This can create a place for bacteria to grow, potentially causing an infection. The pancreas is also damaged or clogged with this mucus, preventing the release of enzymes needed to digest food in the small intestine. This can prevent normal digestion.
Children, teens and young adults with CF may also be at risk for:
Cystic fibrosis in children
One in 3,000 to 4,000 children born in the United States has CF. This lifelong (chronic) disease currently affects about 30,000 children, teens and young adults nationwide.
Although CF is considered a life-shortening disease, people with the condition are living longer. This is due to advances in care and a variety of treatment options. In the mid-1980s and before, people with CF rarely lived past their teens. Thanks to better treatment options – several of which were developed at Seattle Children’s – many patients now live into their 40s and beyond.
Cystic Fibrosis at Seattle Children’s
Seattle Children’s Cystic Fibrosis Program is accredited as a Cystic Fibrosis Foundation Care Center. We have an experienced team of providers from different specialties dedicated to providing the care your child needs so they can grow up as healthy and active as possible. We see your child regularly, monitor symptoms closely and offer the latest treatments and medicines. We also work with your family to develop the best care plan for your child.
At Seattle Children’s, your family has a full team behind you, from diagnosis through treatment, follow-up and transition to adult care. From our appointment schedulers to our pediatric nurses, our team is specially trained to work with children and their families. Our facilities and equipment also reflect this kid-friendly, family-centered approach.
We see families for many years because CF is a lifelong disease. We treat you and your child as partners every step of the way. We listen to your concerns and work with you to make choices about diet, exercise and treatments that work best for you and your child. Our team takes into account the social, emotional and cultural needs of the whole family. We provide friendly and compassionate service tailored to those needs.
As your child grows, we will teach them the self-care skills they will need to transition to adult care, such as managing their medicines, maintaining healthy diets and filling their own prescriptions. We partner with the University of Washington’s adult CF program to help them make that transition to adult care.
During your child’s visits to Seattle Children’s, you may see the following team members:
- Athletic trainers
- Genetic counselors
- Respiratory therapists
Our Child Life specialists work directly with your child to help them express concerns and feel more in control of their hospital experience. They can teach your child coping skills to ease the stress of throat swabs, blood draws and other uncomfortable procedures that are part of CF treatments.
Our team of experts focuses on how today’s treatments will affect your child as they develop and become adults. We base treatment plans on years of experience and the newest research on what works best – and most safely – for children, teens and young adults. This experience helps us monitor your child’s condition and work with you to decide on the best treatment.
Many members of our team are recognized around the world for their work in both clinical care and research. We are 1 of more than 110 CF centers in the nation accredited by the Cystic Fibrosis Foundation based on our specialized care, our participation in research and the education we offer community providers. We have affiliate centers in Spokane and Tacoma, Washington, and Anchorage, Alaska. We also collaborate with the University of Washington Adult Cystic Fibrosis Center.
Seattle Children’s has been an international leader in CF research since the mid-1980s. We work closely with researchers at the University of Washington (UW), across the country and around the world on studies that are transforming the diagnosis, treatment and care of patients with CF.
This collaboration includes the CF Therapeutics Development Network (TDN), which Seattle Children’s and UW formed in 1998. This network now includes more than 75 centers across the country. Its mission is to ensure quality and safety in CF clinical trials and to speed up the development of new and better CF treatments.
Your child may be eligible to participate in a current clinical trial of a new therapy as we continue to study CF. Learn more about our CF research.
Symptoms of Cystic Fibrosis
The symptoms of CF are different for every child. Symptoms over the years may include:
- Lung infections like pneumonia or bronchitis that keep returning
- Frequent sinus infections
- Long-lasting (chronic) respiratory issues, like difficulty breathing, wheezing or coughing (including coughing up mucus)
- Salty skin (noticeable when kissing a child)
- Large greasy and smelly stools that occur often
- Poor growth or poor weight gain even with a good appetite
- Enlarged fingertips and toes, called clubbing
- Nasal polyps, which are small, fleshy growths in the nose
- Dehydration caused by excessive sweat loss
- Male infertility
Diagnosing Cystic Fibrosis
CF is an inherited (genetic) disease that slowly gets worse over time. It is newly diagnosed in about 1,000 children and adults per year in the United States. Due to an increase in newborn screening programs, most children are now diagnosed with CF within their first month of life, often before experiencing any symptoms. In most cases, children with CF are diagnosed by age 2. Some with milder forms of the disease are not diagnosed until they are teenagers.
For children or teens who did not receive a newborn screening, doctors may do the following to make a diagnosis:
- Examine your child and ask about you and your child’s health history.
- Sweat chloride test: We will measure the amount of salt in your child’s sweat by putting a solution on your child’s thigh or forearm and attaching electrodes that send a mild electrical current to cause the skin to sweat. We will collect the sweat and test it. If the results show higher-than-normal amounts of chloride, it may mean that your child has CF. The test is not harmful or painful for your child. Read more (Spanish) (PDF).
- Genetic or carrier test: CF is an inherited (recessive genetic) disease. This means both parents pass down 1 copy of a mutation (genetic change) to the cystic fibrosis transmembrane conductance regulator (CFTR) gene. People with 2 copies of CFTR gene mutations generally have CF. We will collect a small blood sample to look for any changes in the CFTR gene.
- Chest X-ray
- Stool test
- A test of your child’s sputum (a combination of saliva and mucus)
Treating Cystic Fibrosis
At Seattle Children’s, our team will work with you to make a treatment plan that reduces or eases symptoms and promotes normal development and growth.
Although CF is considered a life-shortening disease, people with the condition are living longer due to advances in care and a variety of treatment options. We will work with you to develop a treatment plan based on:
- Your child’s medical history, age and overall health
- How the disease impacts their body
- Your child’s CFTR genetic change (mutation)
- How your child reacts to procedures and treatments
Treatment may include:
Most children with CF have trouble absorbing calories, particularly from fat. Our registered dietitians will help you make meal choices that provide your child with the nutrition they need for healthy growth and development.
In CF patients, the ducts in the pancreas get blocked with sticky mucus, which prevents pancreatic enzymes from entering the intestines. Our registered dietitians work with doctors to prescribe pancreatic enzyme replacement therapy, a type of medicine that mimics the normal function of the pancreas so the ducts do not get blocked with mucus.
Research shows that children with CF who exercise often have milder symptoms and better outcomes. Our athletic trainers will help your child develop an exercise routine.
Our respiratory therapists will teach your child ways to clear mucus from their lungs. They will also teach your child how to use devices to help them inhale (breathe in) certain medicines.
We use a variety of medicines to treat your child’s symptoms. These may include:
- Antibiotics to treat infections
- Anti-inflammatories to reduce inflammation or swelling
- Bronchodilators to open up the airway passages
- Medicines to thin or hydrate mucus
- Pancreatic enzyme replacement therapy, a type of medicine that mimics the normal function of the pancreas
This new class of medicine is designed to correct the defective CFTR protein made by the CFTR gene. It will be important to learn about your child’s CFTR mutation since there are specific CFTR modulator treatments for different types of mutations. We do not have treatments for all combinations of CFTR mutations, but research is advancing quickly.
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