Shannon's Journey with Congenital Central Hypoventilation Syndrome

Alt=''Every parent wants their child to be born healthy, so when Shannon received a prenatal diagnosis for her son of Congenital Central Hypoventilation Syndrome (CCHS), she and her husband were scared.

CCHS is a rare genetic disorder affecting “the central nervous system impacting approximately 1200 individuals worldwide. It impairs the body’s ability to breathe automatically, especially during sleep. Those with CCHS are also at risk for cardiac pauses, cancer, GI dysfunction, seizures, and learning and behavioral issues.” (CCHS Network)

CCHS is not unknown to Shannon as she too was diagnosed shortly after birth and has been living with CCHS all of her life. As a result of her son’s diagnosis, he needs support around the clock to ensure he is breathing well. When her son’s ventilator alarms go off in the night, home care nurses support Shannon and her son to make sure he is breathing and Shannon can get some sleep.

“We know that he will live a full and independent life. It will just be a bit harder in the beginning,” says Shannon. For now, Shannon’s son has a tracheostomy and he will always need some sort of mechanical ventilation to help him breathe. “The early years just require a ton of support. For example, there was a long neo-natal intensive care unit (NICU) stay when he was first born and there were challenges finding nurses who knew how to care for his unique needs,” says Shannon.

Shannon is thankful for a life of experience  that she relies on to get her son through some of the more challenging times. Shannon is also grateful for the great relationships she has built with her home care nurse who supports her and her family. It was this nurse who encouraged Shannon to apply to the Patient and Family Advisory Committee (PFAC) at the Waterloo Wellington LHIN (WWLHIN) so that she might add her voice to the committee that is helping shape the health care system in Waterloo Wellington.

Shannon’s son turned two a few weeks ago and she was happy to report that they had, not just one, but two parties for him.