#SNEINACTION INITIATIVE IS ON THE WAY

An information campaign with Geronimo Stilton to promote Extended Neonatal Screening

This is a life-saving test, safe and simple but still little known by new parents: it is the Extended Neonatal Screening (SNE), which places Italy among the best countries in the world to apply this best practice of preventive medicine. To help future parents discover how it works and how important it is, the information campaign #SNEinAction, promoted by Aismme and SIMMESN with an exceptional testimonial: Geronimo Stilton.

#SNEinAction, the information campaign promoted by Aismme, Italian Association for the Support of Inherited Metabolic Diseases Aps, and SIMMESN, Italian Society for the Study of Inherited Metabolic Diseases and Neonatal Screening, which aims to inform future mothers and fathers about the importance of Extended Neonatal Screening (SNE), a fundamental right for the health of all newborns. An awareness raising initiative that includes the distribution of information material in the birth centers and in the studies of gynecology and obstetrics, a dedicated web page (www.sneinaction.com) with useful links, insights and the opportunity to tell their story. #SNEinAction has a strong ‘digital’ connotation, thanks to the social pages and the involvement of web influencers and mothers bloggers, to reach new parents who rely on the web to inform themselves.

The SNE is a compulsory and free test, able to identify about 40 of the more than 1,000 hereditary metabolic diseases currently known, diseases for which there is a therapy. It is carried out on a drop of blood taken from the heel of the newborn, between 48-72 hours of life.

Thanks to SNE it is possible to identify about 500 newborns per year suffering from one of the 40 diseases currently included in the panel provided for by the legislation. This allows you to start timely therapies and targeted diets, avoiding serious disabilities when not even death. – says Manuela Vaccarotto, Vice President Aismme –  To date, however, few families know of the existence of this test at birth: Aismme welcomes with joy this national campaign necessary to raise awareness on extended neonatal screening.

Putting future parents in contact with SNE is a categorical imperative of #SNEinAction, a small but important contribution towards improving knowledge processes, which are essential for the proper diagnosis and care of patients with rare diseases. To get this important message across more forcefully, #SNEinAction uses the precious help of an exceptional testimonial, very famous among its older siblings, Geronimo Stilton, the most beloved journalist mouse for children all over the world, author of the famous books published in Italy by Edizioni PIEMME.

Claudia Mazzucco, CEO of Atlantyca Entertainment, the company that manages the international rights, animation and licensing of the character and that, together with Edizioni PIEMME, the Italian publisher of Geronimo Stilton, has made possible this fruitful collaboration: “Geronimo Stilton has always been at the side of institutions, associations and private companies on important issues and projects. The universe of values that distinguishes him – friendship, care for others, attention to the environment and culture, children, the elderly – makes him the ideal ambassador to convey to young readers and their families content otherwise difficult to communicate. Geronimo does this in a fun and intelligent way, making complex themes stimulating and welcoming, making them a bridge to a future of hope, sharing and positivity. That’s why, like Atlantyca, we’re particularly proud that the most beloved mouse journalist among children around the world supports the campaign to raise awareness about Extended Neonatal Screening and is at the side of families to help them know all the tools to protect the health of children from their earliest hours of life.”

Neonatal screening is one of the most important public preventive medicine programs, which allows to save many children and significantly improve their quality of life, also contributing to the sustainability of the NHS. “In our country, the SNE has the second largest panel in the world that now sees Italy at the forefront with a model, studied throughout Europe, which regulates neonatal screening based on the principle of equality of all newborns under the law 167/2016 promoted by Senator Paola Taverna – explains Giancarlo La Marca, Head of the Laboratory of Neonatal Screening, Biochemistry and Pharmacology Meyer Hospital in Florence, President of SIMMESN. But, for the near future, it is also important to include in the panel further diseases for which there is a therapeutic treatment at an advanced stage of clinical trials or an effective treatment that can change the natural history of the disease and consequently the quality of life of the young patient. I can think of pathologies such as leukodystrophies and SMA“.

Italian excellence is also guaranteed by the organization and enhancement of all the professional figures that contribute to the success of SNE. “The doctor expert in hereditary metabolic diseases coordinates a multidisciplinary team that operates at the Clinical Centre of reference – explains Andrea Bordugo, UO Manager of hereditary metabolic diseases and Clinical Contact of the Screening Centre of the AOUI in Verona In case of diagnostic confirmation of the disease, the patient is taken care of by the centre and the appropriate therapies are defined, which require the intervention of highly specialized and always traceable personnel (metabolists, geneticists, dietitians, psychologists)“.

New parents can be further reassured by the close collaboration between pediatricians and Territorial Birth Points: “The pediatrician, a reference figure for many parents, must receive a complete and updated training on the different metabolic diseases diagnosed by SNE. This allows the child to be taken care of effectively ensuring ongoing care thanks to a shared and participatory management of the various problems with the metabolist of the clinical center of reference, which remains the figure to which the pediatrician can turn in case of need for comparison. – said Graziella Silvia Cefalo, Head of Rare Diseases Clinical Paediatric Hospital San Paolo ASST Santi Paolo and Carlo Università degli Studi di Milano – Finally, it is also important to think about the process of transition from childhood to adulthood, transferring knowledge from the paediatrician to the general practitioner (GP), in order to ensure continuity of care.

The #SNEinAction campaign, carried out with the probono organisational contribution of MA Provider and Argon Healthcare and with the participation of Omar (Osservatorio Malattie Rare), will continue during 2020 thanks to the unconditional support of Sanofi Genzyme, Biomarin, Sobi and Perkin Elmer. “We are proud to support Aismme in this campaign because we strongly believe in the importance of prevention tools that can change the lives of families, such as Extended Neonatal Screening. For this reason – says Elena Paola Lanati, Managing Director of MA Provider – we have offered pro-bono our experience and our commitment to implement a project that we believe to be of high socio-sanitary value“.

We need to think of extended neonatal screening as a right for newborns and an investment in the healthcare system. I say a right even if the law speaks of compulsory screening: this obligation is in fact for the regions, which must offer it to all, for children is equivalent to being guaranteed a right to health, sometimes to life. In the immediate future there is no doubt that there are – and perhaps there are only a few funds available – but in the medium and long term this is a great investment: children who receive early diagnosis will avoid serious and costly disabilities and welfare costs. Moreover, the data that will emerge from a systematic screening constitute a patrimony also from the point of view of research and for this reason they are an added value for our health system” – concludes Ilaria Ciancaleoni Bartoli, Director of OMAR (Rare Diseases Observatory).

To share: #SNEinAction #MaladiesRare #ScreeningNeonatae #ScreeningNeonataleExtended #GeronimoStilton #Atlantyca