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Newborn screening

Receiving a diagnosis of phenylketonuria

The first steps in the world of PKU

During the stay of a new mommy in the hospital with her baby, several tests are carried out on the newborn to ascertain their health. The most advanced countries in the world with regard to newborn screening, verify about 40-50 metabolic pathologies. Among them, there is phenylketonuria, or PKU. PKU is traditionally identified through Guthrie test: a small blood sample is taken from the child's heel and sent to the laboratory that analyzes it. More modern techniques involve the use of tandem mass spectrometry. In both cases, a more thorough dosage of values ​​follows. The confirmation of the result coincides with the allocation of the parents and the child to the nearest metabolic center, the HCPs, pediatricians and dietitians, will elaborate a therapeutic plan for the child, which will gradually be modified and adapted to meet the needs of every phase of their life. It is important to remember that, to date, the gold standard for the treatment of phenylketonuria symptoms includes nutritional therapy, based on the intake of protein supplement, natural food with low protein content and special low protein food. Diet for life hopes to prevent patients from stopping the pathology and in turn, avoiding its serious consequences. Despite the reassurances of medical personnel, the psychological impact with the reality of PKU can be hard for parents, especially if it is their first experience of caring a child. The first piece of advice is to take a deep breath and consider that, thanks to the timing in the discovery of the pathology, the future of the newcomer is safe. There are however still too many countries where parents cannot intervene and modify the fate of their child, as well as the pathologies for which there is nothing to do. Luckily, this is not the case here. Meeting and talking with more experienced parents, who have already built their own routine with PKU, is the ideal tool to ward off anxiety. They are reachable through the metabolic centers, patient associations or on social media - in the UK and in the world several support groups have arisen -. Together with them you will discover how, following the therapeutic indications, the development of the child will be normal. They will proudly show you their beautiful baby or their growing teenager. Relations with parents of non-PKU children of the same age as yours will make it clear how the fears - that your child does not sleep, do not eat enough or can be sick - are exactly the same. How identical the phases of life will be, joys and sorrows: nothing and no one will save you from the stormy adolescence of your little child, who today sleeps peacefully in their bed. The role of parents is, also in the case of PKU, of paramount importance for the growth and balance of children. Keeping your nerve even in the most complicated situations will make you an example to which your children will draw. They will learn that the scrupulous care of themselves is the tool they have available to guarantee their health. More importantly, they will grow healthy and strong.


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