“Italy is the country that carries out the highest number of newborn screenings. This is good news, but it is important that we also know how to follow and take care of patients over time, especially in the area of lysosomal diseases “. Maurizio Scarpa, coordinator of Metabern, the European reference network for rare metabolic diseases, in its speech today at the conference ‘Extended neonatal screening. 2006-2021, 5 years of progress. Challenges and prospects for the future‘, organized by the Observatory for rare diseases.
“99% of lysosomal diseases do not lead to the death of the child in the first month of life – highlighted the specialist – On the contrary, they are progressive diseases, for this reason the patient must be taken care of for the entire time span of his clinical historya, but above all that patient who does not yet have symptoms, because only more delayed, must be taken care of. So there is no need for hospitalizations and unnecessary therapies, but if anything it is essential to follow these people over time. To do this, however, it takes resources. Therefore, the inclusion of new rare pathologies in the Italian panel is welcome, but first we need to discuss resources, work with screening centers, strengthen these centers also from an educational point of view “.
“Unfortunately, we are losing experts for age reasons – Scarpa warned – In the next 10 years many of us will have retired, it is essential that new doctors arrive who know how to use the data generated by newborn screenings to be able to diagnose patients adequately and early, in order to study therapies and create new care for patients with rare metabolic diseases. “
“Neonatal screening is not a test – said Scarpa, who is also director of the Coordination Center for Rare Diseases, Friuli Centrale Healthcare Company – it is not something for which consent must be sought at the time of birth, the mother surely has other things to think about. neonatal screening must be part of the couple’s preparation for childbirth, a couple who must then be followed up with a team of psychologists and experts to explain what the disease is, take charge of it and formulate all nutritional or pharmacological therapies but with the consent and participation of the family. Unfortunately, this does not happen in our regions, in our centers “.
Hence, the need for a “Consensus panel“that Metabern has created with the collaboration of patient associations and the International Society of Newborn Screening,” complete with a decalogue – the expert remarked – necessary for newborn screening to be considered a system and not treated as a test “.
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