The story of Amy & Max
Our son, Gage, was born on July 10th, 2008. Gage has been diagnosed with a rare genetic disorder called Carnitine-acylcarnitine translocase deficiency (CACT), which prevents the body from converting fats to energy. There are only a handful of known affected individuals currently alive, as the overall mortality rate is greater than 73% and most die by age three. There have only been 30 documented cases in the world.
Gage is not able to fast for more than 3 hours or he could progress into a metabolic crisis consisting of seizures, lethargy, coma, and death. A metabolic crisis is often triggered by things like illness or infection, going without food for a long time, prolonged heat exposure, and, heavy exercise.
Gage is now 6-years-old, and currently in Kindergarten. He is non-verbal, wheelchair bound, has nephrocalcinosis, cardiomyopathy, at risk for seizures, gj tube fed (diet consists of numerous components), on a bip-pap with oxygen at night and requires daily medications. He spent the first few years in out of the hospital and we came close to losing him many times. Despite what he has been through, Gage is a happy, sweet, easy going little boy that can put a smile on everyone’s face that meets him:-)