The people who have to remember to breathe

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The people who have to remember to breathe Empty The people who have to remember to breathe

Post by Ben Reilly on Thu Nov 05, 2015 7:49 pm

"(Congenital Central Hypoventilation Syndrome) is a genetic mutation," 26-year-old Marissa Schain told Mic over coffee and pie in her native Brooklyn, New York. "When we fall asleep we don't get the signal in our brain to keep breathing."

The condition is rare, with roughly 1,000 cases known to exist worldwide. The mutation occurs sometime during fetal development on the gene PHOX2B, located on Chromosome 4. The disease is spontaneous, striking girls and boys at random. Thanks to modern technology, those living with the disorder today can have better outcomes than Hans, who's death provided Ondine's dramatic conclusion, but it is still far from easy.

"I was about three weeks old, my mom found me in my crib and I was blue," Schain said. "I was almost basically dead."

After that scare, Schain, like most people with CCHS, underwent a tracheotomy. The procedure outfitted her with a breathing tube that had to be hooked up every night to a clunky ventilator. "I was always known as the girl with the thing in her neck." Schain said. "You just get used to it."

While the system did keep her alive, the procedure makes CCHS patients more susceptible to potentially life-threatening infections like pneumonia. While Schain never had a major health scare, she jumped at the chance to dump the trach and the ventilator when she was 18 in favor of a set of pacemakers that stimulate breathing by sending electrical currents to her diaphragm.

How awful!

Also awful is the journalism at the source, actually. The subject is compelling enough on its own to not have to open with a reference to a 1939 French play ...

"Some would call it happiness, but I like to think that what I found is me. That sounds simple enough, but the truth is, it took quite a while to do it."

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Ben Reilly
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Post by eddie on Thu Nov 05, 2015 8:03 pm

For some reason I was reading about this the other night! How odd?

Anyway, it's very scary as it can happen to young children in their sleep apparently!

Just what every parent of a child wants to know when they want a good nights sleep!


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Post by Guest on Thu Nov 05, 2015 8:35 pm

How awful, didn't realise that this could carry on to adulthood.  My eldest grandaughter had sleep apnea from the time she was a about a week old, she would stop breathing over 20 times a night some nights and had to have a special monitor, a belt that went round her chest which was attached to it.  Seems babies that have it normally grow out of it by the time they are about 3 months.  My grandaughter was nearly 8 months before it really stopped, and for a long time afterwards my daughter would keep checking and checking her.  At the time, it was really frightening.


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