Cystic Fibrosis: How To Recognize It And Treat It


At Westchester Health Pediatrics, we often get questions from our parents wanting to know if their child might have asthma or some other lung disease because they’ve noticed him/her having trouble breathing. Once we have conducted a thorough examination and gotten a family health history, we sometimes find that the child actually has cystic fibrosis.

Because many people are unfamiliar with this condition, we thought we’d explain its cause, symptoms and treatment so that parents can be better informed if their child has this condition and needs to begin treatment. It’s important to note that in recent years, better diagnostic and therapeutic modalities have extended and improved lives of CF patients.

Cystic fibrosis (CF) is a life-threatening genetic disease

Glenn E. Kaplan, MD, FAAP

Cystic fibrosis (CF) is a genetic disease that causes the body’s mucus, sweat and digestive juices to be unusually thick and sticky. These secretions can clog organs and airways, leading to dangerous infections. According to the Cystic Fibrosis Foundation Patient Registry, more than 30,000 people are living with cystic fibrosis in the U.S. and more than 75% of those are diagnosed by age 2.

Of all ethnic groups, Caucasians have the highest inherited risk for CF, and Asian Americans have the lowest. Although the chances of inherited risk may vary, CF exists in every geographic area of the world among every ethnic population.

Typically, people with CF do not live into their 40s. Currently, the average life expectancy is 37.4 years but this figure includes all patients followed by the CF Foundation, many of whom were born in the 1970s and 1980s. Children born today can expect to live longer as treatment continues to develop and improve.

Symptoms of cystic fibrosis in children: what to look for

The diagnosis of CF is being made earlier and earlier, usually in infancy. (Approximately 15% of those with CF are diagnosed later in life). Symptoms involve the lungs and digestive organs, and they vary in severity, including:

  1. Meconium ileus. Some children with CF begin having symptoms at birth, and are born with a condition called meconium ileus. Although all newborns have meconium (the thick, dark, putty-like substance that usually passes from the rectum in the first few days of life), the meconium of a baby with CF can be too thick and sticky to pass and can completely block the intestines.
  2. Failure to gain weight. Babies born with CF typically fail to thrive, in spite of a normal diet and a good appetite. This is because mucus blocks the passageways of the pancreas and prevents pancreatic digestive juices from entering the intestines. Without these juices, the intestines cannot absorb fats and proteins completely, meaning that nutrients pass out of the body unused rather than helping the body grow. Poor fat absorption makes the stools oily and bulky and increases the child’s risk for deficiencies of the fat-soluble vitamins A, D, E, and K. Unabsorbed fats may also cause excessive intestinal gas, an abnormally swollen belly and abdominal pain.
  3. Salty skin. Because CF also affects epithelial cells in the skin’s sweat glands, children with CF may have a salty “frosting” on their skin or taste salty when their parents kiss them. They also may lose abnormally large amounts of body salt when they sweat on hot days.
  4. Breathing and sinus problems. Because CF produces thick mucus within the respiratory tract, children with CF may suffer from nasal congestion, sinus problems, wheezing and asthma-like symptoms. As CF symptoms progress, children can develop a chronic cough that produces globs of thick, heavy, discolored mucus. They also may suffer from repeated lung infections.
  5. Problems breathing. As chronic infections reduce lung function in a child with CF, the ability to breathe often decreases. He/she may begin to feel short of breath, even when resting. Despite aggressive medical therapy, lung disease develops in nearly all patients with CF and is a common cause of disability and shortened lifespan.

How to know if your child has CF

  1. Genetic testing. By performing genetic tests during pregnancy, parents can now learn whether their unborn child may have CF. In 2001, less than 10% were diagnosed by newborn screening.  In 2014, over 60% were diagnosed by newborn screening. Yet even when genetic tests confirm CF, we are still unable to predict beforehand whether a child’s CF symptoms will be severe or mild. Genetic testing also can be performed on a child after birth, as well as parents, siblings and other relatives who are considering having a family.
  2. Sweat test. After a baby is born, the standard diagnostic test for CF is called the sweat test: an accurate, safe and painless way to diagnose CF. In this test, a small electric current is used to carry the chemical pilocarpineinto the skin of the forearm which stimulates sweat glands in the area to produce sweat. Over a period of 30-60 minutes, sweat is collected on filter paper or gauze and tested for chloride. A child must have a sweat chloride result of greater than 60 on two separate sweat tests to warrant the diagnosis of CF.
  3. Once diagnosed, several other tests are used to monitor a child’s CF:
  • chest X-rays
  • blood tests to evaluate nutritional status
  • bacterial studies that confirm the growth of Pseudomonas aeruginosa, Staphylococcus aureus or Haemophilous influenzabacteria in the lungs (common in CF)
  • pulmonary function tests to measure the effects of CF on breathing

Caring for a child with CF

When a child is first diagnosed with CF, he/she may need to spend some time in a hospital, depending on the severity of their condition. If indeed they are admitted, they will undergo a variety of diagnostic tests, especially baseline measurements of their breathing (lung function) and a nutritional assessment.

Before leaving the hospital, the child’s doctors will make sure that their lungs are clear and that they’ve started a diet specifically containing digestive enzymes and vitamins that will help them gain weight. Once home, they will probably see their pediatrician for follow-up visits every 1-3 months.

The daily care program for CF varies from child to child, but usually includes pulmonary therapy (treatments to maintain lung function) and nutritional therapy (a high-calorie, high-fat diet with vitamin supplements). Kids with CF also can take oral doses of pancreatic enzymes to help them digest food better. They may occasionally need oral or inhaled antibiotics to treat lung infections and mucolytic medication (a mucus-thinning drug) to keep mucus fluid and flowing. We have seen improved outcomes occur because of communication between pediatricians and specialists, especially pulmonologists, by treating aggressively with appropriate antibiotherapy when complications occur.

Gene therapy. A new treatment for CF, which is still being researched, is an inhaled spray containing normal copies of the CF gene. These normal genes deliver the correct copy of the CF gene into the lungs of CF patients. Since 1993, more than 100 CF patients have been treated with CF gene therapy, and test trials are underway in at least nine different U.S. medical centers and others around the world. Another new therapy, called protein repair therapy, aims to repair the defective CFTR protein. Numerous medicines, including a spice called curcumin, are also being tested.

Resources, help and support

Caring for a child with CF can be tough at times, but parents need not feel alone. Most communities have a local support group linked to the Cystic Fibrosis Foundation. You can find a local chapter here. Here are some additional resources:

Does your child have cystic fibrosis? Do you need support and guidance? Come see us, we’re here to help.

If you have a child with cystic fibrosis, or are concerned that he/she may be developing this condition, please make an appointment with Westchester Health Pediatrics. One of our pediatricians will examine your child, make an evaluation, and offer treatment, guidance and referrals. Our #1 goal is for your child to be as healthy and happy as possible, no matter the diagnosis. Whenever, wherever you need us, we’re here for you.

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By Glenn E. Kaplan, MD, FAAP, pediatrician with Westchester Health Pediatrics, member of Northwell Health Physician Partners

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About the Author: ML Ball