Tristan's Cure for CCHS

Tristan has been diagnosed with a very rare genetic disorder known as Congenital Central Hypoventilation Syndrome (CCHS) or Ondine’s Curse specifically with a PHOX2B mutation in his DNA.  In addition, he also has an extra complication diagnosis known as Hirschsprung’s Disease or HSCR.

CCHS is a disorder that affects normal breathing. People with this disorder take shallow breaths (hypoventilate), especially during sleep, resulting in a shortage of oxygen and a buildup of carbon dioxide in the blood. They lack a responsive respiratory drive otherwise known as reflex breathing that is triggered by CO2 levels in the body.  As CO2 increases in the blood, the neurons in the brain to signal the lungs to breathe. Because reflex breathing is damaged in CCHS patients, they have a blunted response to CO2 levels. This results in CO2 retention and begins to cause CO2 poisoning and blood acidosis. 

Treatment of this disease with Tristan's genotype necessitates round the clock mechanical ventilation from a ventilator. 

Hirschsprung’s Disease is a birth defect that can go hand in hand with a diagnosis of CCHS. The disorder itself is characterized by the absence of particular nerve cells (ganglions) in a segment of the bowel. The absence of the ganglion cells causes the digestive tract to lose its ability to move stool through the intestine (peristalsis).

At this time there is no known cure for CCHS, but we are determined to find one.  We have been in contact with clinics and labs from around the country who have interest in Central Nervous System chemosensitivity, which is the underpinning of his condition.  There are a few promising therapies to explore, all of which require funding.  His condition falls in the category of ultra rare diseases with only ~1,600 know cases world wide.  Since it is so rare, federal funding/grants for laboratories to conduct research or clinics to perform cure trials can be hard to come by.  100% of all donations to this fund will go toward research and development of a cure for CCHS.

Link to Tristan's CaringBridge: https://www.caringbridge.org/visit/tristanburbach

For more information on CCHS, please visit their official foundation website:  https://cchsnetwork.org/