Antoiné Dingle was born on the 17th of February 2015, and was only 13 days old when she stopped breathing for the first time… she was hospitalized often. On the 3rd of April 2018 she was finally diagnosed with Congenital Central Hypoventilation Syndrome. A Tracheostomy was done on 13 April, and she needs to sleep on a ventilator for the rest of her life because her brain forgets to breathe.
Congenital Central Hypoventilation Syndrome (CCHS) is a rare genetic disorder of the central nervous system affecting ~1300 individuals worldwide. There is only 4 known individuals in South Africa. CCHS is a disorder that affects breathing. People with this disorder stops breathing or take shallow breaths (hypoventilate), especially during sleep, resulting in a shortage of oxygen and a buildup of carbon dioxide in the blood.
Ordinarily, the part of the nervous system that controls involuntary body processes (autonomic nervous system) would react to such an imbalance by stimulating the individual to breathe more deeply or wake up. This reaction is impaired in people with CCHS, and they must be supported with a machine to help them breathe (mechanical ventilation) through a tracheostomy or a device that stimulates a normal breathing pattern (diaphragm pacemaker).
Some affected individuals need this support 24 hours a day, while others need it only at night. Those with CCHS are also at risk for cardiac pauses, cancer, GI dysfunction, seizures, and learning and behavioral issues.
Antoiné is such an active little girl and loves to swim, which is impossible with a trachi. The option is a diaphragm pacemaker, but the cost is about R1mil for the device and all her expenses.