Better start in life for children with cystic fibrosis

​Successful screening for cystic fibrosis in newborns means that children with the disease receive early treatment and have better chances of living a long and good life

More children with cystic fibrosis can look forward to a longer and better life than ever before. This is because the disease was included in the regular screening programme for newborns two years ago.

"Now we’re identifying children with cystic fibrosis within a few weeks after birth. This means that we can treat them right away, so that they can absorb nutrition better and gain weight from the start. At the same time, we can keep their lungs clear to prevent them from getting pneumonia and developing fibrous connective tissue which chronically injures their lungs," said Marianne Skov, a consultant and head of the Cystic Fibrosis Centre at the Department of Paediatrics and Adolescent Medicine. 

The screening process identified as many as 20 children with cystic fibrosis from 1 June 2016 to 31 May 2018 using the so-called PKU test.

“Finding the number of children that we expected fully justifies the screening. Only one child born after the introduction of the screening was diagnosed later on the basis of symptoms," said Marianne Skov.

Close follow-up from the start

Before the screening, new patients with cystic fibrosis were often not diagnosed until the age of six to 12 months, and some even reached school age before being diagnosed. These children often had long periods of poor well-being, lung infections and many visits to the doctor before they were diagnosed with cystic fibrosis. This has changed completely after the introduction of the screening. Now, Marianne Skov calls parents of newborns in east Denmark shortly after birth to tell them about the result of the screening and invite them to a consultation and an examination to establish a treatment plan. 

"When I call the parents and tell them that we suspect that their newborn child has cystic fibrosis, most parents are very disturbed. When they come in for a consultation one or two days later, most of them have read about the disease and are extremely worried. Some have already noticed that their child doesn't thrive properly, others have not experienced any symptoms. We immediately give the child digestive enzymes to help them absorb nutrients from their food. In the course of a few days, the child's stomach begins to work properly and the parents experience that their child is much better. The parents also report that their child is more calm and is sleeping better. The parents become familiar with the treatment surprisingly fast, and adapt to the new situation," said Marianne Skov.   

In the beginning, the children visit the outpatient department every week, and then every month.

Large improvements in prognosis

In the past, children with cystic fibrosis were often small, underweight and were unlikely to live a long life. This has changed significantly. The most recent statistics have shown that 80% of patients with cystic fibrosis live for more than 50 years. 

"With neonatal screening, early treatment and regular monthly check-ups, children and young people with cystic fibrosis can look forward to maintaining an almost normal lung function, going to school like healthy children, doing sports and getting an education," said Marianne Skov.

Cystic fibrosis – in brief

  • Cystic fibrosis is an autosomal recessive disease in which the child has inherited a mutant gene from each of its parents
  • This congenital disease affects several of the organs of the body 
  • The most common complications include thick mucus in the lungs and in the gastrointestinal system, coughing, poor digestion, poor well-being and a high salt content in sweat
  • Patients have recurring lung infections, which may gradually reduce their lung function
  • In Denmark, about 200 children and 300 adults have cystic fibrosis
  • A total of 10-15 children are born with cystic fibrosis every year in Denmark.
  • All patients are being monitored at Rigshospitalet or at Aarhus University Hospital
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