Diaphragm Pacing System for CCHS

Congenital Central Hypoventilation Syndrome (CCHS)—also known as Ondine’s syndrome—is a rare disorder that affects the autonomic nervous system (ANS). The ANS is what controls the automatic actions of the body that help it function, including breathing, digestion, and how often the heart beats. In cases of CCHS, a specific nerve—known as the phrenic nerve—is unable to sense the need to breathe properly, especially when the patient is asleep. This results in low oxygen levels (hypoxemia) and increased carbon dioxide levels (hypercarbia) in the body, which may be fatal after a short period of time. (Source: NORD)


Yonathan with his Avery diaphragm pacer   Yonathan was born in 2004 and diagnosed with CCHS (Congenital Central Hypoventilation Syndrome) by two months [...]

CCHS is a life-long disorder that is typically diagnosed at birth or during the newborn period when difficulty with breathing, hypoxemia, and hypercarbia is quickly identified. However, patients with a milder form of CCHS may go undiagnosed up into adolescence and adulthood, which is then referred to as late-onset CCHS (LO-CCHS). LO-CCHS is usually only discovered in a patient during situations such as:

  • Experiencing a severe respiratory illness
  • Experiencing hypercarbia while under sedation
  • While taking certain medications that may make patients tired

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The Diaphragm Pacing System manufactured by Avery Biomedical Devices is a device used to provide respiratory support for patients with chronic respiratory insufficiency, such as those with CCHS, whose diaphragm, lungs, and phrenic nerves have residual function. The device delivers electrical impulses to the hemidiaphragms in order to restore breathing function. It is used in patients with Congenital Central Hypoventilation Syndrome (CCHS) in order to restore regular breathing function.

What Are the Causes of CCHS?

Diagnosis of CCHS must be done by a licensed physician, especially with the severe nature of the condition and requirements for care. Studies have shown CCHS to be the result of a mutation in a specific gene known as PHOX2B that encourages the formation of neurons (nerve cells) and manages how they form. While this mutation may be inherited, in the majority of cases the mutation occurs within the affected patient and is not inherited from a parent.

CCHS is characterized by adequate ventilation while the patient is awake and by hypoventilation with shallow breathing during sleep. More severely affected patients hypoventilate when both awake and asleep. With CCHS, this is caused by the brain not utilizing the phrenic nerves (the neurological pathways between the brain and each hemidiaphragm, originating at the C3-C5 vertebrae) in a consistent manner. While this may cause a major difficulty in patients with CCHS, there may be an option to facilitate regular breathing with a diaphragm pacing system.

Ondine, a water nymph from German mythology, cursed her unfaithful husband “As long as you are awake, you shall have your breath, but should you ever fall asleep, then that breath will be taken from you and you will die!” From this ancient myth comes the name “Ondine’s Syndrome,” still used in certain parts of the world as a name for CCHS due to the difficulty of breathing during sleep.

How Is CCHS Typically Treated?

Any treatment for CCHS should come at the direction and under the care of a licensed physician. Currently, there is no cure for CCHS nor drug therapy for treatment. Patients may manage the condition in conjunction with their doctor through the support of a breathing device. Methods may include:

  • Positive pressure ventilation (PPV) via tracheostomy, which pumps air into the lungs through a tube surgically placed into the windpipe
  • Bi-level positive airway pressure ventilation via masks or prongs, a less invasive alternative to the tracheostomy technique that is typically utilized in milder forms of the disorder
  • Negative pressure ventilation (NPV), a less popular technique that creates pressure in the chest and abdomen to help inflate the lungs by wearing a special jacket or vest
  • Diaphragm pacing, a minimally invasive process that stimulates the phrenic nerve enabling more natural breathing for the patient and may provide many benefits to the patient (in-context link will be used to benefits below). The Avery Diaphragm Pacemaker is such a device.

The Avery Breathing Pacemaker

The Avery Breathing Pacemaker is an FDA-approved diaphragm pacing device that promotes natural breathing in patients with CCHS—as well as several other conditions—24 hours per day to patients of all ages. With this device, electrodes are placed on the phrenic nerve in the neck or chest and connect to an external device that creates radio waves. These waves are transferred to the nerve to stimulate it, causing the diaphragm to contract as it would naturally.

This device offers several benefits to patients over mechanical ventilation (e.g., PPV) systems including:

  • Lower risk of upper airway infections due to reduction in suctioning, elimination of external humidifier and ventilator circuits, and potential removal of tracheostomy tube in some patients where appropriate
  • More natural breathing function that is physiologically more accurate and comfortable
  • Compact design without bulky tubing and batteries, which allows for greatly increased mobility (some of our patients still enjoy swimming and horseback riding!)
  • Superior sensory and related motor functions, including improved sense of smell, ease of eating and drinking, and normal breathing and speech patterns.
  • Significant long-term cost savings – Diaphragm Pacing Systems typically pay for themselves in roughly two years, with patients saving an average of $20,000 per year thereafter

The Avery Breathing Pacemaker has been featured in several studies and has been drastically improving the lives of patients for over 50 years. It is the only diaphragm-pacing device with full pre-market approval from the USFDA and CE marking privileges under the European Active Implantable Medical Device Directive for adult and pediatric use. In addition, Avery Biomedical is currently partnered with the CCHS Network to help improve the lives of patients with the disease. The CCHS Network is a nonprofit dedicated to research and providing support to families living with CCHS.

For More Information

For more information, please call us at 631-864-1600, or click the “request info” button below and fill out the contact form. We would be happy to get you more information about how the diaphragm pacing system may help, and connect you with a physician familiar with the device in your area if needed. If you’re looking for a physician, you can find a list of physicians and medical centers in the United States here, or find a list of international representatives here.

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