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What types of emergency can arise?

Individuals with CHS are at greater risk than other children of a number of emergencies, because of their condition and the treatments they need. Awareness of these and effective ventilation will lessen the likelihood of these happening. Early recognition of deterioration can lessen harm arising.

The main risks are breathing problems and cardiorespiratory arrest due to:
i) problems with the airways or tracheostomy
ii) fainting episodes or collapse (syncope)
iii) breath-holding episodes (young children)
iv) seizures (convulsions or fits)
v) equipment failure, such as power failure or technical fault with ventilator

How do I recognise breathing problems?

As breathing is a vital function and this is the primary problem for individuals with CHS, it is especially important to be aware of how to recognise breathing problems.
Recession of the chest wall may not always show

In individuals without CHS, breathing difficulties are sensed as discomfort in breathing, chest tightness or breathlessness. In CHS, these sensations may not occur or occur late in an illness. Therefore reliance on these symptoms is not possible. Similarly, health professionals cannot rely on the usual signs of respiratory distress to indicate breathing difficulties, such as: fast breathing (tachypnoea), indrawing of the chest wall (recession), flaring of the nostrils, odd breathing noises and use of extra muscles of breathing.

In CHS, the most useful indicators of breathing problems include:
- looking pale, grey or blue
- sweating
- excessive tiredness
- any unusual breathing sensations
- falls in blood oxygen levels
- rises in carbon dioxide levels

It is important to have a pulse oximeter (saturation monitor; normal SpO2 = 95-100%) ± carbon dioxide monitor available to use in the event of either respiratory illness (even colds) or with any respiratory symptoms.

How do I deal with breathing problems?

If an individual with CHS has the above symptoms or abnormal measurements of oxygen or carbon dioxide, either follow the emergency care plan you have been provided with or contact your health professional.

This is a risk in an individual with CHS

It is a risk to provide additional oxygen to breathe on its own without assisted ventilation, as this does not treat the under-breathing (as shown by the rise in carbon dioxide levels). In fact, giving oxygen alone may suppress breathing further, allowing carbon dioxide levels to rise even more and coma to follow. If oxygen is given, effective ventilation should always be provided and carbon dioxide levels should be monitored.

If the individual has stopped breathing or shows no signs of life, you need to perform cardiopulmonary resuscitation (also known as basic life support - BLS - or mouth-to-mouth) and call the emergency medical services. Health professionals will show you how to perform BLS and you should have practised on a manikin (dummy).

How do I manage problems with the airway (tracheostomy)?

If the individual has a tracheostomy, health professionals will show you how to manage problems with this, including what to do if it becomes misplaced or blocked. If you have a tracheostomy, there are changes to the usual BLS and health professionals will teach you these.

How do I manage a faint or a fit?

While these are more common in CHS, they are initially managed in a similar way to other individuals. In addition, it is important to ensure the individual is either breathing adequately, or they are ventilated. Usual first aid involves lying the individual down and free from any surrounding dangers, whilst keeping the airway clear, for example, by use of the recovery position.

If breathing is inadequate, as shown by no or poor chest movement or blue colour to lips, tongue and gums,, then assisted ventilation must be given. If a ventilator is not immediately available, use another way of giving ventilation, such as:
- a self-inflating bag
- mouth-to-mouth or mouth-to-tracheostomy lung inflations
Attempting to rouse the individual may increase ventilation.

How do I manage breath-holding episodes?

These are common in young children and often follow an unpleasant trigger, such as pain, fear or anger. Most are short lived and recover without treatment. However, some children have falls in oxygen causing blue lips (cyanosis) or slowing of the heart rate; these may cause loss of consciousness. Simple first aid is given, such as avoiding injury on objects surrounding the child. If breathing is inadequate, lung inflations should be given (as in basic life support or CPR).

What equipment failures happen?

Your equipment will need to be serviced regularly to lessen the chance of it unexpectedly failing. Even so, you need to be prepared for the possibility that equipment does sometimes fail despite the best care.

Most equipment uses mains electricity and if this fails, each device should ideally run from a battery supply. This will include:
- the ventilator
- the pulse oximeter (sats monitor)
- suction (for tracheostomy)

In the event that the battery fails, it is important to have some way of providing lung inflations or suction mechanically. A self-inflating bag is invaluable.

Other equipment failures are managed by having a second device or 24-hour access to technicians. Your physician will discuss this with you.

If you think that there are other emergencies that can occur, discuss these with your physician, as it is best for you and your child to be prepared for such occurrences.

Some do's and dont's

a) Individuals with CHS should avoid sedative medication, including pre-medication before surgery, unless ventilation is planned for.

b) Adults and young people should minimise alcohol intake, as its use has been associated with sudden death.

c) Individuals may not perceive breathlessness and asphyxia and should be closely supervised when swimming. They are advised not to undertake underwater swimming.