Is There A Drug Treatment for CCHS?

There is currently no cure or medication for CCHS. Most children receive tracheostomies at just several months of age. While CCHS patients have the potential to live productive lives, they are reliant upon life-long mechanical ventilation. Recent breakthroughs in CCHS research suggest that drug interventions may be possible and are not far down the pipeline. Current research efforts by the CCHS Network include work on this possible treatment avenue.

CCHS patients can have a variety of associative conditions that may require medications and/or treatments. A patient should work closely with his/her physician to properly diagnose and determine treatment options on an individual/per case basis.

CCHS Ventilation Options

CCHS patients have inadequate respiratory drive and therefore are unable to breathe spontaneously during sleep and sometimes also when awake. CCHS does not resolve spontaneously, nor does it respond to pharmacologic stimulants. CCHS does not improve with age. CCHS patients must be supported by a mechanical ventilation. The choice of respiratory support varies depending on the age of the patient and severity of symptoms.

Four types of ventilatory supports are currently available:

  1. Ventilation via a Tracheostomy
    The most common method of providing mechanical ventilation, especially in infants and younger children, is via a tracheostomy (a surgical opening in the trachea). A tracheal tube is inserted and connected to the ventilator via a special tubing system. This is called positive pressure ventilation (pressure is applied into the patient’s airway to effect gas exchange).
  2. Mask Ventilation (also called non-invasive ventilation)
    Breathing support from a ventilator is delivered via nasal-prongs, nasal- or face-mask. This is also positive pressure ventilation.
  3. Diaphragm Pacing (DP)
    DP requires a surgical procedure to place two electrodes into the chest on the phrenic nerves and two radio receivers under the skin. An electric stimulation of the phrenic nerves results in contraction of the largest and most important breathing muscle, the diaphragm. When the external transmitter stops sending the signals, the diaphragm relaxes and passive exhalation starts.
  4. Negative Pressure Ventilation (NPV)
    There are three modes of delivering a negative pressure in order to perform breathing: the chest shell, the Vest, A Port-a-lung. For all three types of NPV negative pressure is delivered to the chest and abdomen which forces an inspiration as the negative pressure causes a suction of the air into the lungs.

Ventilatory support itself does not cause any pain. Optimal setting of the ventilator is crucial to smooth mutual breathing between machine and person. It is recommended that an alert person be with a ventilated patient to manage alarms and other equipment problems.

CCHS patients can speak with a tracheostomy during spontaneous breathing by using a special adapter, called a “speaking valve”, over the tracheotomy. Some CCHS patients will simply plug their tracheotomy tube with a cap to permit speaking. Speaking is also possible during mechanical ventilation.

Yes, most currently available ventilators are portable and have an internal and external battery. Ventilators can be used on airplanes. Most airlines need to be notified, prior to travel, that a patient will be using equipment in-flight. Airlines will provide oxygen to patients who need it during flight for a fee.

There is no “best” choice ventilatory strategy. Each method has its plus and minuses. The ventilation approach must be decided according to the age, severity of the illness, parents preferences and patient’s needs as determined by a specialized center.