CCHS
Congenital Central Hypoventilation Syndrome
Congenital Central Hypoventilation Syndrome
Noah, pacing in Hawaii with the Avery Diaphragm Pacemaker
Noah was born with CCHS and began pacing with the Avery Diaphragm Pacemaker 4 years ago. His family discovered the device through families in the CCHS family network, and then followed up with the CCHS experts at CHLA. The results have been life-changing.
Previously, he was tied to his ventilator 24/7. In order to do most activities that toddlers enjoy, his parents would backpack his vent on their backs so that he could participate in as much as possible, but it was challenging. Now, they say he can do “literally almost everything!” He’s a straight A student and paces all day at school, swims, golfs, plays basketball, and loves traveling to new places (the image here is Noah recently pacing on a trip to Hawaii!).
“Pacers have given Noah (and our family) the Freedom to live our best life! We’re so grateful!”
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. This is caused by the brain not sending a signal to the phrenic nerves (the neurological pathways between the brain and each hemidiaphragm, originating at the C3-C5 vertebrae).
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CCHS patients with non-polyalanine repeat expansion mutations (NPARMs) of the PHOX2B gene have an increased chance of developing Hirschsprung disease. 3 Roughly 20% of the CCHS population will have this disease. Hirschsprung disease is categorized by abnormalities in the nerves controlling the digestive tract.
Symptoms of Hirschprung disease include: Swollen stomach, severe constipation, intestinal blockage, diarrhea, vomiting, chronic gas, enlargement of the colon 4
The combination of CCHS and Hirschsprung disease has been referred to as “Haddad Syndrome” by researchers. 5
A number of CCHS patients may also show rapid obesity between the ages of 1.5 to 10 years of age which indicates a rare disorder distinct from CCHS known as ROHHAD (Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation, and Autonomic Dysregulation).1
The obesity experienced may further aggravate chronic artificial ventilatory issues. Affected children may also display behavioral problems if ventilatory support is inadequate. Gene investigations have not identified a molecular cause of ROHHAD yet. 2
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 does the Avery Diaphragm Pacemaker compare to the competitor device for CCHS?
Weese-Mayer D, Rand C, Khaytin I, Slattery S, Yap K, Marazita M, Berry-Kravis E. Congenital Central Hypoventilation Syndrome. 2004 Jan 28 Online