What is Newborn Screening?
New-born screening has proved innovative in diagnosing and treating many conditions. It is a public health program which tests all new-born babies for a variety of conditions not obvious at birth but can cause disability or death if left untreated. The screening process takes place within the first 24-48 hours after birth and involves a ‘heel prick test’ of blood from the new-born to help identify and screen for a wide range of conditions. One of the conditions screened for is Phenylketonuria (PKU) with the earliest testing occurring around 1962.
However, screening was not worldwide and very inconsistent during its early days with many new-borns being missed or inaccurately tested. Therefore, if my parents had PKU it would’ve been likely that they weren’t tested for it, and this could have had negative consequences for their development. Luckily, due to great advancements in technology, medical research and understanding the Guthrie test is now widely developed and used on all new-born to test for PKU.
Annie's view on Newborn Screening
I still find myself lucky to both have PKU, embracing all the challenges it comes with but being one of the lucky ones who was born in an era of great medical advancements otherwise the consequences don’t bare thinking about. Therefore, I don’t take this for granted and in fact use PKU to help me through life, challenging all the doubters, helping to inspire others and make my family proud that the little new-born baby who had all the doctors and nurses worried over 22 years ago is achieving things they never thought I would.
Therefore, I challenge you to stop stressing over minor details of the PKU diet and in fact accept you are very lucky to be a part of such a rare community of special individuals, who have just as much to offer than a non-PKU child - if not more! During this month of new-born screening awareness reflect on how lucky you are and give a thought to those who weren’t so lucky to have a diagnosis, whilst being grateful to the talented scientists who developed and implemented such a vital screening program. Use this as motivation to make the most out of the life you have and take all the opportunities that are thrown your way no matter how hard they may first seem with PKU – trust me the more you embrace the challenge the more rewarding it becomes!