Mighty Z has Congenital Central Hypoventilation Syndrome (CCHS) which is a multi system neurological disorder. Only 1 in 200,000 children are born with CCHS, when Mighty Z was born she was number 163 in the world with CCHS now there are 800 children with CCHS world wide.
CCHS affects every part of Mighty Z's body but most severely her breathing. Mighty Z's respiratory response to low blood oxygen saturation (hypoxia) or to CO2 retention (hypercapnia) is sluggish during the day and absent to varying degrees at night, when sick, or stressed.
At birth Mighty Z was suspected to have CCHS but at the time there was no genetic test available. In 2003 the French found the genetic maker for CCHS it was found on the PHOX2B gene. The PHOX2B gene provides instructions for making a protein that acts early in development to help promote the formation of nerve cells (neurons) and regulate the process by which the neurons mature to carry out specific functions (differentiation).
Mighty Z has a repeat of the PHOX2B gene. Most people have a 20/20 PHOX2B gene Mighty Z has a 20/26 PHOX2B gene mutation.
Because of Mighty Z's low respiratory drive, Mighty Z has a Diaphragmatic (breathing) Pacemaker that has been implanted inside Mighty Z to make her breathe. I monitor her very closely with a pulse ox machine (a machine that measures heart rate and oxygen levels on a constant bases) and A CO2 monitor (a monitor that measures Mighty Z's carbon dioxide levels)
Mighty Z also has Hirschbrungs Disease. Hirschburngs Disease (abbreviated as HSCR) is a problem with the way the lining gut develops and is
present from birth. About 1 in 5000 babies is born with HSCR, though this rate
varies two-fold across different ethnic groups for reasons still not fully
Mighty Z is followed by several specialist who all keep Mighty Z alive and healthy. We owe not just our thanks to the many Specialist we owe Mighty Z's life. 01