Article type:
Resource
Estimated read time:
4 mins min read
Published:
08/10/2025
Some rare genetic conditions such as SAVI syndrome, surfactant protein deficiencies, alpha-1 antitrypsin deficiency and several others, can affect the lungs or the chest muscles needed for breathing. This can make breathing difficult or less efficient during everyday activities such as walking or during sleep. In these situations, oxygen and respiratory support can help reduce breathlessness and improve energy levels. In some rare genetic disorders, there is a risk of lung scarring (fibrosis) which impairs the workings of the lungs. New treatments are becoming available to slow the process and help preserve lung function.
Antifibrosis drugs such as pirfenidone and nintedanib reduce inflammation and slow the process of fibrosis. Unfortunately, they don’t reverse existing lung damage but by reducing further scarring, they help preserve lung function and prevent further damage. They are sometimes used in rare genetic diseases under specialist care. New agents are likely to become available in the near future.
Oxygen therapy via a soft flexible nasal tube (‘nasal cannula’) delivers oxygen through the nostrils typically between 1 and 6 litres per minute. By using the nose, it allows the user to eat, talk and move freely. Nasal cannulas are comfortable for home use and can be used long term. Oxygen can also be given through a face mask that covers the nose and mouth. Masks are often used during hospital stays especially when a higher flow of oxygen is needed such as during infections. Nasal cannulas may not be suitable for very young children in whom a mask may be preferred.
Oxygen concentrators are devices that filter oxygen from the air rather than storing oxygen in an oxygen cylinder. Home oxygen concentrators are often used in the home and plug into the mains supply. They are safe and easy to use. Portable oxygen concentrators are smaller battery-powered devices used for going out or for travel. They give the body the oxygen it needs and reduce feeling breathless or fatigued. It is important to only use the flow rate that has been prescribed as too much or too little oxygen can be harmful.
Ventilators may be needed when breathing muscles become too weak to allow normal breathing or in severely damaged lungs. They move air and oxygen in and out of the lungs to support breathing. The settings on the machine are adjusted for each person’s needs. Invasive ventilation refers to the situation when a breathing tube in the windpipe is used. They are commonly used in hospitals but can be employed at home for people requiring more full-time support.
Ventilation via a face mask (non-invasive ventilation, NIV) supports breathing especially at night such as CPAP (Continuous Positive Airways Pressure) machines. They improve sleep quality, reduce the frequency of chest infections and help clear retained carbon dioxide. They are portable and are used in the home. Parents, carers and those living with genetic disorders can learn how to manage these devices but the specialist team needs to adjust the settings according to the individual’s needs.
Oxygen saturation is a measure of how much oxygen is in the blood. It shows how well the lungs and heart are working to deliver oxygen round the body. A healthy oxygen saturation is between 95-100% Patients with chronic lung conditions have lower than normal oxygen levels and will have a target oxygen saturation set by their clinical team. Oxygen saturation below 90% is too low and needs oxygen support.
A pulse oximeter is a little painless device that clips on to a finger or toe or earlobe and measures oxygen saturation (%) as well as heart rate. They are used at home by children and their carers, and in hospitals especially during infections and can also be used to monitor oxygen levels during sleep or physical activity. Measuring oxygen saturation lets the team know if oxygen therapy is needed and if the flow rate of oxygen is enough.
Organising oxygen for air travel requires careful planning. You or your affected child might need a fit to fly assessment test to see how your oxygen saturation responds to lower air pressure. It is advisable to contact the airline you plan to travel with as early as possible (at least 2-3 weeks before your flight) to check whether they provide oxygen, if they accept portable oxygen concentrators and what documents or medical forms they require. Most people will bring their own battery powered portable oxygen concentrator on board but it must be one that is airline-approved. You need enough battery life for the flight (allow extra) and it is important to take spare batteries in your carry-on luggage (not in check-in bags). Take into account any stop-overs, transfers and the possibility of unscheduled waits.