(December 3, 2015)- Congenital Central Hypo-ventilation syndrome, or CCHS, is a rare genetic disorder which is typically diagnosed at birth with no advanced warning. It leaves young children with tracheotomies, introduces the risk of death every time the person falls asleep and causes a number of other serious complications.
Essentially the brain is unable to automatically tell a person to breathe.
The only treatment is lifelong mechanical ventilation, which means dozing on a couch, snoozing on a car ride or napping in the sunshine without being attached to a machine, could cause death.
CCHS is an orphan disease. It’s rare and the development of drugs is considered to be commercially nonviable. There are an estimated 1,000 to 1,200 diagnosed cases worldwide. The CCHS network has 390 families with several hundred more international families.
There are varying degrees of severity of the condition. Some patients are only night time ventilator dependent, others need ventilation 24/7. Fewer than 20 percent of patients also have a bowel motility disorder. In some patients, cardiac pauses occur and require implanted cardiac pacemakers.
There are a variety of phox2b mutation types that produce CCHS. The two big categories of types are parm and nparm.
In Indianapolis, 29-year-old Matt Stone has dealt with his CCHS all of his life. He uses a bi-pap when he sleeps, but as a baby used a ventilator and later a trach. Nancy Stone, Matt's mother, says as a child he would turn blue when he cried, because he would actually stop breathing.
Matt has a full life. He’s run for political office in Marion County; he has a full time job and a girlfriend. And his CCHS has not gotten in his way.
“It’s never hindered anything that I wanted to do,” says Matt.
But Nancy Stone would like some answers, and specifically a drug treatment
“These young adults are living on their own. They’re living their lives and being successful, but they also have kind of a hidden medical issue.”
Sponsored by American Senior Communities.