What is chILD?

Children’s Interstitial and Diffuse Lung Disease (chILD) is not a single disease. Instead, it is a group of rare lung diseases found in infants, children, and adolescents. There are different types of chILD that vary in their severity and in their long-term outcomes. In simplest terms, all types of chILD decrease a child’s ability to supply oxygen to their body. Early diagnosis and treatment is important for any form of chILD. If you suspect your child has chILD, consult a pediatric pulmonologist with expertise in chILD.

What does “interstitial” mean?

interstitium-for-website copyWhen a person breathes, air passes through the airways to the tiny air sacs called alveoli. These alveoli are the sites where oxygen passes into the blood and carbon dioxide exits the blood to be exhaled. In between the surface of the alveoli and the small blood vessels is a very thin connective tissue. This tissue is known as the interstitium. Changes to the interstitium, like swelling or scarring, can reduce the lungs ability to absorb oxygen and/or release carbon dioxide.

When the doctors first began defining chILD, most believed Children’s Interstitial Lung Disease was due to changes in this tissue. As we learned more, we have discovered that several chILD disorders like NEHI have normal interstitial tissue. As a result, we now consider chILD to include forms of Children’s Interstitial and Diffuse Lung Disease.

What are the symptoms of chILD?

Because there are so many forms of chILD, your child may have all or some of the following possible symptoms:

  • Fast breathingphoto-box001 (1)
  • Use of “helper” muscles while breathing (The child’s ribs or neck muscles may stand out while breathing in, showing he or she is working harder to get air into the lungs.)
  • Abnormal chest X-rays or CT scans
  • Needs supplemental oxygen
  • Failure to gain weight and/or height (also known as failure to thrive)
  • Persistent crackles, wheezing or other abnormal sounds when listening to the lungs
  • Recurrent pneumonia
  • Recurrent bronchitis
  • Recurrent cough

Children with enough of these symptoms should have further tests to determine if they have chILD and to determine the specific form of chILD. The best way to do this is to work closely with pulmonary doctors. Often, the definitive diagnosis may depend on a lung biopsy to examine the actual lung tissue.

Was my child born with chILD?

We don’t understand all the causes of the different chILD disorders. Some children are affected at birth while others are not affected until later in childhood. There are some children that appear to be healthy until they catch some kind of other illness (i.e. colds, RSV and/or bronchitis) which starts the process of chILD. For these children, early treatment and intervention is really important to slow or halt the process of the disease. Certain forms of chILD (such as surfactant problems) are inherited through genes. We can test for a few genetic causes of chILD, but most do not have a genetic test yet. Without more research, it will be difficult to determine the role genetics may play in other forms of chILD.

Does ILD affect adults?

Children’s Interstitial and Diffuse Lung Disease (chILD) is not a single disease. Instead, chILD is a heterogeneous group of rare lung diseases that affect infants and children. Some of these diagnoses are unique to children, but many are seen throughout the lifespan and can be expressed in both children and adults. Adults can also suffer from ILD. Some diagnoses are only seen in adults, and most physicians consider adult ILD a totally different disease than chILD. The most common and severe form of adult ILD is usually interstitial pneumonia/idiopathic pulmonary fibrosis, which has not been found in infants and young children. The term “idiopathic pulmonary fibrosis” means scarring of the lungs for unknown reasons and can occur in children and adults, however, the adult version may not be the same disease process in infants and young children. Recently more families are being discovered that have multiple generations with pulmonary fibrosis that begins in different age categories. This suggests there is a common cause in these families and some causes cross-over between adult and pediatric ILD. These ‘cross-over’ diagnostic categories are critical for understanding the development, progression, and under-lying causes of fibrosis and other pulmonary conditions.

child-Adult-IPF-300x207

Figure 1: The relationship between chILD disorders and adult lung disease diagnoses. Some diagnoses are unique to each population. However, some occur in both adults and children and others are considered disease modifiers and have been implicated in altering the course of the progression of adult lung disease and should be an area of focus for combined research.
(NEHI=Neuroendocrine Hyperplasia of Infancy, PIG=Pulmonary Interstitial Glycogenosis, SFTPB=Surfactant Protein B, BOOP=Bronchiolitis Obliterans with Organizing Pneumonia, COP=Cryptogenic Organizing Pneumonia, OB=Obliterative Bronchiolitis, LIP=Lymphocytic Interstitial Pneumonia, SFTPC=Surfactant Protein C, ABCA3=ATP binding cassette protein, NSIP=Non-Specific Interstitial Pneumonia, NKX2-1=NK homeobox 1 is involved with Thyroid Transcription Factor 1, TERT=alters telomerase transcriptase (TERT) expression, DIPNECH=Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia, SFTPA=Surfactant Protein A, MUC5B=variation in the MUC5B airway mucin gene, IPF=Idiopathic Pulmonary Fibrosis, UIP=Usual Interstitial Pneumonia, AIP=Acute Interstitial Pneumonitis)
Because children are not small adults and the forms of ILD are different, children who have or may have chILD should see a pediatric pulmonologist, ideally with experience in chILD. Families that have multiple generations affected should also reach out to the chILD Research Network.
While chILD disorders are rare and under-funded, the investment in chILD research has wide-ranging implications for understanding adult lung disease.

The information about chILD is limited to the number of research studies that have been done to date. However, there are a few things you can do:

  • Keep checking our website. We’re working on getting as much information posted as possible. This non-profit group consists of families affected by chILD as well as the physicians treating ILD and working on finding a cure. There is information on disease specific information, descriptions of diagnostic testing, and tips for living with chILD.
  • Ask your pediatrician for more information, but don’t be surprised if he or she doesn’t have enough. ChILD is rare and not every doctor has had a chance to learn about it. If there is interest, your doctor can contact the clinical research network for more information.
  • Connect with other families through our family forums and on Facebook and Twitter.

For more information or support, please contact us.