Kala McWain, mother of a child with phenylketonuria (PKU), talks about the disease and the challenges of finding and adhering to a very expensive diet.
PKU is a rare genetic metabolic disorder that results in reduced activity of phenylalanine hydroxylase that leads to an accumulation of phenylalanine in the body, that can lead to significant organ damage, especially in the central nervous system. If left untreated, individuals with PKU can develop chronic intellectual, neurodevelopmental, and psychiatric disabilities, as well as seizures and heart problems. Lifelong restriction of phenylalanine intake through the diet is needed to prevent buildup of phenylalanine in the body. However, this diet is particularly expensive and most insurance companies do not cover these medically necessary foods.
To learn more about PKU and other metabolic conditions, go to checkrare.com/diseases/metabolic-disorders/