Dr Elaine Murphy will cover the important and necessity of the heel prick blood test given in the first days of a babies life and how the outcome can be of such an importance in ensuring the future of their health going forward
Within the first week of life all babies born in the UK are offered a heel prick test, as part of a national newborn screening programme, to detect a group of rare conditions before symptoms develop. By detecting these conditions early it is possible to treat them effectively and reduce their severity. Currently nine conditions are tested for, six of these are rare inherited disorders of metabolism. For the majority of babies, all of these tests are negative and nothing further needs to be done.
But for some babies, parents will receive the news that the screening test is positive, and if this result is confirmed, then their baby will need to start treatment. In this lecture we will discuss the history of newborn screening, what happens to the heel prick blood sample once it is taken and what happens next if a baby’s test is positive. We will review each of the six inherited metabolic disorders, their current treatments and our knowledge on long-term outcomes for these children as they become adults.
Elaine Murphy qualified from Trinity College, Dublin. She trained in chemical pathology / metabolic medicine at Imperial College NHS Trust, London and developed a specialist interest in inherited metabolic disease. She has worked as a consultant at the Charles Dent Metabolic Unit, based at the National Hospital for Neurology and Neurosurgery, Queen Square since 2008. The unit manages over 1400 adult patients with rare inherited disorders of metabolism, including phenylketonuria, glycogen storage disorders, urea cycle defects, galactosemia, fatty acid oxidation defects, peroxisomal disorders and inherited hypophosphatemia. Staff at the unit specialise in the dietary management of specific inherited disorders of metabolism. It is also a NHS England specialised services centre for the management of patients with lysosomal storage disorders (including, among others, Fabry disease, Pompe disease, Gaucher disease and the mucopolysaccaridoses) and participates in clinical trials of new treatments for these disorders.