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)
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:
Avery Biomedical Devices can Help
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.
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.
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 hyperventilate 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 the Avery Diaphragm Pacing System.
Find a Recommended Physician
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:
The Avery Diaphragm Pacing System is an FDA-Approved diagram 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.
•Small, portable, and silent, allowing for greater mobility and participation in social and educational activities.
•Shower, bathe, and participate in water therapy.
•Mechanical ventilation (MV) uses forced positive pressure (PPV) versus the Avery System which uses natural negative pressure (NPV) resulting in improved:
•Breathing and speech patterns.
•Eating, drinking, and sense of smell
•Circulatory function
•Pacing reduces hospital readmissions due to the lower risk of infections including ventilator-associated pneumonia (VAP).
•Fully implantable with no protruding wires which can result in chronic infection risk necessitating on-going wound management care.
•Diaphragm pacing may for itself in less than a month by permitting discharge to a less costly environment.
•Covered by Medicare and most government and private insurance.
•Saves over $20,000 per year in ventilator-related expenses.
•Does not require the purchase of any specialized instrumentation or capital equipment.
•Avery provides technical support at no additional cost.
•50+ year unsurpassed record of safety and reliability.
•A dual redundant system ensuring no single-point failure results in complete loss of life support.
•A dual alarm system of audio and visual alerts.
•Circuitry that prevents direct current from being delivered to the nerve, which eliminates the possibility of nerve damage.
•Electrodes made up of 99.99% pure platinum for nerve contacts, which is superior to stainless steel.
•Small, portable, and silent, allowing for greater mobility and participation in social and educational activities.
•Shower, bathe, and participate in water therapy.
•Mechanical ventilation (MV) uses forced positive pressure (PPV) versus the Avery System which uses natural negative pressure (NPV) resulting in improved:
•Breathing and speech patterns.
•Eating, drinking, and sense of smell
•Circulatory function
•Pacing reduces hospital readmissions due to the lower risk of infections including ventilator-associated pneumonia (VAP).
•Fully implantable with no protruding wires which can result in chronic infection risk necessitating on-going wound management care.
•Diaphragm pacing may for itself in less than a month by permitting discharge to a less costly environment.
•Covered by Medicare and most government and private insurance.
•Saves over $20,000 per year in ventilator-related expenses.
•Does not require the purchase of any specialized instrumentation or capital equipment.
•Avery provides technical support at no additional cost.
•50+ year unsurpassed record of safety and reliability.
•A dual redundant system ensuring no single-point failure results in complete loss of life support.
•A dual alarm system of audio and visual alerts.
•Circuitry that prevents direct current from being delivered to the nerve, which eliminates the possibility of nerve damage.
•Electrodes made up of 99.99% pure platinum for nerve contacts, which is superior to stainless steel.
The Avery Diaphragm Pacing System 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.
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