Rare Lung Disease in Children
- The Young Lungs Program is an initiative sponsored by Lung Foundation Australia where national experts team up with key stakeholders around the country to:
- Advocate for children with rare lung diseases including interstitial and diffuse lung disease
- Promote the development of support platform(s) for families of children with rare lung diseases
- Provide a framework for training and peer support for doctors and health care professionals who look after children with rare lung diseases
- Promote the advancement of research for improving the lives of children with rare lung diseases
- Prof Adam Jaffe (Chair), Sydney Childrens Hospital Children’s Hospital
- A/Prof Sarath Ranganathan, Murdoch Children’s Research Institute Melbourne
- Dr Andre Schultz, Princess Margaret Hospital for Children, University of Western Australia
- Michael Doumit, Sydney Children’s Hospital
- Natalie Smith, Queensland Children’s Medical Research Institute
- Dr Andrew Tai, South Australia
We know that people with a rare disease face very similar problems such as:
- A delay in diagnosing the disease due to lack of knowledge and training by the medical community
- Difficulty in accessing information for families and health professionals
- Difficult in accessing the best service and treatment, either because of locality or because one does not exit
- Health professionals not sure how best to treat the disease due to lack of evidence from proper trials
- Barriers to developing new drugs for treatment
- Lack of affordable drugs to treat the condition
- Difficulty in navigating the health systems and accessing support; whether this is in the form of equipment, financial or peer support.
- Difficulty in finding an adult doctor to transition a child with a rare disease to appropriate adult services
Interstitial and diffuse lung disease in infants and children can be caused by genetic factors, developmental factors, infections, anatomical factors, immune dysregulation or a combination of factors. Sometimes no specific cause can be found.
Can present in different ways. Typical presentations include:
- Breathing difficulties in the newborn period
- Failure to thrive (not gaining weight well) and breathing difficulties
- Fast breathing
- Recurrent cough
- Coughing up blood
- Recurrent lung infections or exacerbations
- Shortness of breath (all the time, or only when talking/doing exercise/feeding (for babies)
The lung disease can remain severe, slowly improve, lead to other complications or at times be fatal.
The first challenge is often to make an accurate diagnosis. Typically one first needs to rule out other disorders that may look similar to chILD. In addition to multiple consultations with a paediatric respiratory physician further testing may include: chest x-rays, chest computed tomography (CT or cat) scans, blood tests to look at your child’s immune function, ±genetics etc., sweat testing (collection of a few drops of sweat to rule out cystic fibrosis), blood gases to measure oxygen and carbon dioxide levels, lung biopsy (a small piece of lung tissue will be examined by pathologists. Often, but not always, can be very useful to help with diagnosis).
At times it can take years before a specific diagnosis is made. Doctors can still provide general supportive care that could be very helpful for your child. Your child’s physicians may want to try out therapies that have worked for children with similar problems in the past. In such cases it is essential that the potential benefit vs. risk is discussed with your child’s specialists.
How children’s interstitial lung disease is managed
Management depends on disease severity and includes general support, disease specific treatment, and management of complications. General supportive measures may include oxygen therapy and ventilatory support (like various types of non-invasive or invasive positive pressure support) nutritional support (like feeding supplements and/or nasogastric feeds). Disease specific treatments may include steroids, hydroxychloroquine, and/or various immunosuppressive drugs. The most common complication is respiratory infections that may need antibiotic treatment. Immunisations (routine and specific) are an important way to prevent respiratory infections.
Possible problems to watch for with children’s interstitial/diffuse lung disease
- Parents will look out for signs that their child is working harder to breathe. Young infants typically need to take more breaks to rest and catch their breath when feeding. Cyanosis (blue discoloration of the skin and tongue) is a late sign of respiratory distress and should prompt urgent medical attention
- Failure to thrive (not putting on weight at a rate expected for age)
Treating symptoms of children’s interstitial lung disease
Children are often supported with extra (supplemental) oxygen and this is sometimes referred to as Home or domiciliary oxygen. There are different ways of providing this, but usually a combination of cylinders and an oxygen concentrator. Small portable cylinders which fit under the pram or are carried in a special back pack enable you to go out with your baby as you would normally do. At home, larger cylinders or a concentrator are used. You will be trained in the safe use of oxygen and managing this in the home environment (Link to LFA Home Oxygen book)
Oximeters are small machines which measure your child’s oxygen saturations, or the percentage of oxygen in the blood. These machines can be useful to monitor a child’s condition and alert parents of any deterioration which requires a visit to the hospital or a change in supplemental oxygen at home.
- Ventilators:some children with interstitial lung disease require long term, positive pressure ventilation with sophisticated, portable ventilators. These devices are customised to suit the individual child’s needs. They allow them to breathe more effectively. Parents will receive education about how to care for their child’s ventilator
- Tracheostomies:some children with severe interstitial lung disease, who require ventilation 24 hours per day, may require the insertion of a tracheostomy. This breathing tube allows the baby or child to be safely connected to their ventilator. The tracheostomy tube itself creates added risks and requires specialised care in hospital and eventually in the child’s home. For this reason, a tracheostomy would only be inserted if the child’s doctors feel that it is absolutely necessary and much safer to ventilate the child with the tracheostomy tube
Feeding considerations for children with interstitial lung disease
- Feeding babies with interstitial/diffuse lung disease
- Babies with interstitial/diffuse lung disease often burn up calories fast because they have to work harder to breathe. Sometimes they cannot keep up with their nutritional requirements. Nutritional support can vary from adding calories to milk feeds to aiding feeding with nasogastic feeds (giving feeds through a thin tube that goes through the nose all the way into the stomach) or gastrostomy (a surgically placed small hole through the abdominal wall that can be used to put feeds directly into the stomach). Nasogastric and/or gastrostomy feeds are often temporary measures: the nasogastric tube can be pulled out and the gastrostomy can be reversed
- Feeding young children with interstitial lung disease
Reducing the risk of further illness
- Avoid smoking
- Exposure to second-hand tobacco smoke is harmful to babies and children in general, but can be particularly bad for the health of those with lung disease. If you do smoke please strongly consider quitting. Your general practitioner will have details of ways to help you quit smoking
- Reduce exposure to other illnesses
- Respiratory infections can cause underlying lung disease to flare up. Parents of babies and children with underlying lung disease should help their children avoid contracting infections. Although it is almost impossible to prevent all lung infections it is a good idea to avoid people who are suffering from colds and flu’s. Close family members are not expected to avoid each other, but good hand hygiene, discussed below, is advised
- Respiratory Synctial Virus (RSV): Palivizumab is a type of vaccine that helps protect against RSV infection. It is given by monthly injections over the winter season. Use is usually strictly limited by health are authorities
- Influenza: If your child is old enough you should strongly consider having him/her immunised against influenza. Vaccine protection by the influenza vaccine is most effective if the whole family is immunised
- Pertussis (Whooping Cough): Vaccination against pertussis and all the vaccines on the immunisation schedule is advised
*Your child’s underlying condition and/or treatments may influence their response to vaccines and whether specific vaccines are appropriate for them. Please discuss vaccines with your child’s doctor.
- Hygiene: good hand hygiene (regular hand washing or alcohol-based hand-gel) is useful for prevention of infections
More ways you can best help a child with an interstitial/diffuse lung disease when out of the hospital
- Travelling with a child with interstitial/diffuse lung disease:
- Oxygen: some children may need oxygen supplementation during travelling. Oxygen requirements may increase during long distance flights. Accurate prediction of the in-flight oxygen requirements can be challenging. Some centres provide fitness-to-fly tests that help with estimating in-flight oxygen requirements. If your child needs regular oxygen supplementation then you will need to make sure that there will be sufficient oxygen supplies available at your destination. Discuss your child’s oxygen requirements with you doctor when planning your travels.
- Medication: if your child is on chronic medication always plan to make sure that you will not run out of medications during your travels. Some international destinations may require a letter from your doctor that names the medications that you are taking with you.
- Emergency medical help: when planning your travels always consider the availability of adequate medical services at your destination in case your child falls ill.
- Lung Foundation Australia
- American Thoracic Society
- CDH Australia
- PDC Australia
- ChILD UK
- chILD Foundation (USA)
- National Immunisation Program Schedule
- British Paediatric Orphan Lung Diseases
- The voice of Rare Disease patients in Europe
- European Lung Foundation
- Little Leakers (lymphanigiectasia)
- Idiopathic Pulmonary Haemosiderosis
- Rare Voices Australia