The disease is life threatening as it can kill the person when asleep. Due to this condition the person cannot breathe on his/her own when asleep.
A six year old girl, Sadie from Birmingham, suffers from this complication, BBC reported.
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What is Congenital Central Hypoventilation Syndrome (CCHS)?
Experts at the John Hopkins Medicine define CCHS as "a rare neurological disorder characterized by inadequate breathing during sleep and in more severely affected individuals, during waking periods as well."
CCHS is also known as "Ondine’s curse”.
In this condition the ability of nerves that control the involuntary functions of the body is impaired.
What are the symptoms associated with CCHS?
The common signs shown by kids who are born with CCHS are poor breathing or complete lack of spontaneous breathing, especially during sleep; abnormal pupils, acid reflux due to which the appetite is affected and absence of bowel movement.
Sadie has healthy lungs, reports The Mirror, but her breathing system is incapable of functioning normally.
CCHS was first discovered in 2003 and around 1,200 children worldwide have this condition.
What causes CCHS?
A mutation of the PHOX2B gene causes CCHS. This gene is responsible for the formation of specific nerve cells during early pregnancy.
Mutation in this gene affects the autonomic nervous system and the nerves do not work the way they should.
As per The Mirror, Sadie's mom did not have any genetic issues and was monitored during her pregnancy; she had a previous miscarriage. Sadie was born at 36 weeks.
“I never really sleep”
"I never really sleep. Sadie can't really be left unattended at any point," her mother Star told BBC. "Even in the day there is all the risk of if she fell asleep, if she was knocked unconscious, she would stop breathing, if she fainted or whatever so she can never not have eyes on her," she added.
In another interview to the Mirror the mother of two said she does not allow her daughter for sleepovers.
Assisted breathing method
Sadie cannot breathe on her own when asleep and to help her breathe a tube is inserted through her neck. Sadie started using the tube when she was just 2 months old.
The device has 8 hours of battery life, her mother told the media.
On dealing with the disease
Star told the media outlets that sometimes she is unable to explain to her kid about her condition.
She opens up on bullies who tease her and make fun of her tracheostomy, which aids her to breathe.
She says she can't let her daughter go out swimming because she has a hole in her neck to which the assisted breathing device is connected.
Sometimes her daughter begs her to remove the tube.