If you learn that your baby has cystic fibrosis (CF), your mind may race with questions: Will my baby live a normal life? What will I need to do to keep my child healthy? How can I get her the best possible care?
Here’s some reassuring news: Cystic fibrosis treatments have come a long way, and children with CF are now living longer, healthier lives. Here’s what you need to know about this rare condition.
What is cystic fibrosis?
Cystic fibrosis is an inherited disorder that affects the exocrine glands, which produce mucus, digestive juices and sweat. Normally, these secretions are thin and slippery, and they lubricate the lungs, digestive tract, pancreas, sweat glands and other organs.
But children with cystic fibrosis have a genetic mutation that causes the exocrine glands to produce thick, sticky secretions. These secretions then block the passageways of the body and cause numerous serious problems, particularly in the lungs and digestive system.
Symptoms of cystic fibrosis
Most of the time, cystic fibrosis is diagnosed within the first two years of your child’s life. Mandatory newborn screenings check all babies born in the U.S. for CF after birth. It can also be diagnosed during pregnancy, if you undergo genetic testing.
If it’s not picked up in utero or at birth, symptoms you and your pediatrician may notice include:
- Failure to gain weight. Thick mucus blocks the passageways that carry digestive enzymes from the pancreas to the small intestine. This makes it hard for the intestines to absorb nutrients and digest food, preventing healthy weight gain.
- Frequent lung infections. The mucus in your little one’s airways is thick and more difficult to cough out. She may have a persistent cough that gets worse with colds. Mucus can get stuck in the airways and cause pneumonia or bronchitis. Over time, these lung infections can cause serious damage.
- Nasal polyps. Inflammation and swelling inside the nose can cause soft, fleshy growths to develop there.
- Unusual stool. Most kids with CF don’t have certain digestive enzymes that absorb fats and proteins. This can cause large, bulky, loose stools.
- Salty-tasting skin. Since cystic fibrosis affects your baby’s sweat glands, she’ll sweat a lot and the sweat will be very salty. (You may notice a salty taste when you kiss her sweet face.) All that sweating can lead to dehydration and electrolyte imbalances.
What causes cystic fibrosis?
Cystic fibrosis is a genetic disease. It’s a recessive disorder, meaning both biological parents need to have a copy of the gene that causes it.
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If you just have one copy of the defective CF gene, you’re called a carrier as you don’t actually have the disease itself. Each time two CF carriers have a child, there's a:
- 25 percent chance the child will have CF.
- 50 percent chance the child will be a carrier, but will not have CF.
- 25 percent chance the child will not be a carrier and will not have CF.
In 1989, researchers discovered the gene that causes CF. Today, they know of more than 1,700 mutations of that gene related to CF. Most genetic tests, however, only screen for the most common CF mutations. They can still miss some people who have uncommon versions of the gene.
How common is cystic fibrosis?
An estimated 35,000 Americans have cystic fibrosis. In the United States, 1 out of every 2,000 to 3,000 white babies have CF. It’s much less common in Black and Hispanic babies and even rarer for Asian babies.
CF is not contagious, which means that if your baby has the condition, she can’t spread it to others.
Treaments for cystic fibrosis
There’s no cure for cystic fibrosis. Instead, the goal of treatment is to ease symptoms and prevent complications for as long as possible. For children born with CF between 2014 and 2019, the median predicted survival age is now close to 50. Therapies your child may use include:
- Chest physical therapy. This helps to loosen and get rid of the thick mucus that can build up in the lungs. It’s done several times a day, either with a machine or a special hands-on technique.
- Antibiotics. These help with lung infections and periods when symptoms like coughing and mucus production flare up, called exacerbations. These may require daily treatment with IV antibiotics.
- Inhaled medications. Some inhaled medications called bronchodilators help keep airways open. Others thin mucus in your child’s airways so that she can cough it out more easily.
- CFTR modulator therapies. This is a new type of treatment designed to correct the defective protein made by the cystic fibrosis gene. There are currently only four CFTR modulators available for certain gene mutations. More are in development.
- Pancreatic enzymes. Most people with cystic fibrosis also have a pancreas that makes thick mucus that blocks the release of enzymes needed for digestion. As a result, they need to take special enzymes right before they eat to help their bodies absorb fats and protein.
- Special diet. It’s very important that infants and toddlers have good nutrition, since higher body weight is linked to better lung function. If your baby’s weight gain is slow, your doctor may want you to add extra calories to her diet with formula. Once your child begins solid food, you can work with a nutritionist on ways to add in more calories. This can include homemade milkshakes or liquid nutritional supplements. Your child may also need to take supplemental vitamins.
Managing this disorder can be complicated, so many parents seek ongoing care at a cystic fibrosis center.
Cystic fibrosis prognosis
You may feel a range of emotions including guilt if your child has CF as it’s a genetic disease. And balancing your child’s physical and emotional demands with the rest of your family’s needs can also be hard. Local support groups can help, as can the Cystic Fibrosis Foundation.
Because treatments are continually improving, children with cystic fibrosis can go to school and college, enjoy active lives, work and live well into their 30s — and sometimes into their 40s and 50s. The American Academy of Pediatrics recommends that you raise your child just like she didn’t have cystic fibrosis.
Researchers also continue to investigate new treatments for cystic fibrosis that involve gene therapy. To learn more about what’s on the horizon or to get involved in a clinical trial, visit the Cystic Fibrosis Foundation and the National Institutes of Health.
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