I have two daughters. Only the younger one has PKU. We struggle to find foods that Isabel can eat. Medical foods are incredibly expensive, and our insurance plan, which is otherwise good, is exempt from state mandates which should provide 100% coverage for medical foods. We end up telling her to have applesauce whenever she’s hungry, because it’s low in phe and we can buy it at the store. She’s small now, but as she grows and her appetite increases, affording the foods that protect her from brain damage is going to be a huge challenge. This is a photo of Izzy and I on the day she was diagnosed with PKU. We got great advice from our medical team about how to care for her: just feed her low-phe foods and make sure she drinks her formula. I had no idea then how hard, or how expensive, that would really be. PKU is the reason newborn screening was developed: If it’s not caught in the first few months of life, catastrophic and irreversible brain damage occurs. The theory of newborn screening is that if we can detect the disease early on, we can treat it. Medical Nutrition is THE treatment for PKU, and to fulfill the promise of newborn screening we need to follow through and actually treat the disorders we detect.
- Society for Inherited Metabolic Disorders