Diagnosis and Treatment

Diagnosis can occur during early infancy via newborn screening, later in childhood, and occasionally the diagnosis made in adolescents and adults. The pediatric cystic fibrosis program at SSM Health Cardinal Glennon is fully accredited by the Cystic Fibrosis Foundation, treating pediatric patients from diagnosis through transition to our adult cystic fibrosis program.

child with breathing tube playing with rocket ship

Newborn Screening

The states of Missouri and Illinois include screening for cystic fibrosis on newborn screening cards for all children born. Most infants with an abnormal screen do not have cystic fibrosis, but it’s important to determine if they do so treatments can be started early. Infants screened as possibly having CF are referred to cystic fibrosis centers across the state, including Cardinal Glennon Children’s Hospital for newborn-screening, which began in June 2007, in Missouri. On occasion, CF is not detected on the newborn screen.

The most common tests utilized to diagnosis CF are:

Sweet Chloride Testing

This test is considered the most reliable for diagnosing cystic fibrosis. It is a painless test (no needles) that measures the amount of chloride (a chemical in salt) in the sweat. It must be performed at a CF Foundation-accredited care center. There is no activity limit or special diet needed before the sweat test, but you should not apply creams or lotions to the skin 24 hours before the test. You can continue all regular medications, as they have no effect on test results. Babies can be fed normal amounts at usual times. Expect the test to last about one hour. Results are available later in the day and a member of the care team will call to discuss the results when available. Learn more about the sweat test here.

Genetic Testing

If the results of the sweat chloride test are consistent with CF and the newborn screen does not provide us with all the genetic information we need, we may order a genetic panel. There are other scenarios that genetic testing may be requested and on occasion it may be necessary to perform genetic testing on parents as well. Genetic information can assist with the diagnosis of CF and can also be used to determine if a patient is eligible for some of the new highly effective CF medications. Because genetics can be a confusing topic, we offer genetic counseling services.

Other Testing

It is not uncommon for the CF care team to perform additional tests. These may include stool studies, blood work, throat or sputum cultures, and imaging (X-rays).

Treatment

The pediatric cystic fibrosis program at SSM Health Cardinal Glennon Children’s Hospital will continuously work with your family to create a regular treatment routine, which may include:

  • Monthly visits initially, that gradually become quarterly (every three months) as your child progresses.
  • Airway clearance therapies to loosen thick, sticky lung mucus, so it can easily be cleared by coughing.
  • Antibiotics – While many respiratory infections in children are caused by viruses, CF patients are more prone to bacterial infections, so our care team may prescribe antibiotics to treat these.
  • Inhaled medications to treat CF lung infections and mucous plugging.
  • Pancreatic enzymes to help with digestion issues.
  • Multivitamins - CF patients need special vitamins that contain higher levels of A, D, E, and K.
  • Many patients are also eligible for a special class of medications called modulators. You can learn more about this exciting class of medications on the Cystic Fibrosis foundation's website.