Neonatal screening is a real life -saving tool. It is a blood sampling from the newborn heel, carried out within the first 48-72 hours from birth, which allows you to identify rare but very serious genetic diseases, often asymptomatic at birth. Making an early diagnosis means intervening before it’s too late. Since 2016, with law 167 Italy has introduced extensive, mandatory and free neonatal screening for over 40 metabolic pathologies. But between the law and reality there is an Italy divided into 20 regional health systems in the middle.

The case of Ettore Montagnoli

The story of Ettore Montagnoli, a Veronese child suffering from type 1 spinal muscle atrophy (SMA1), has become a symbol of unequal health. His pathology would have been detectable already in the first days of life, but at the time of the birth of Ettore, the screening for the SMA was not yet active in the province of Vicenza.

The Veneto Region had established to start neonatal screening for the SMA in the Hospital-University of Padua and in the Integrated University Hospital of Verona, but Ettore, born in the province of Vicenza, was not entitled to the test. This situation highlighted a disparity in access to early diagnosis and life -saving treatments within the same region.

The diagnosis arrived late and Ettore died in 2021 at just 34 days. We cannot know if the fatal outcome would have happened equally, even with a timely diagnosis, but what we know is that after his death the Veneto region moved. At the end of 2022, the Council approved the inclusion of the SMA in neonatal screening, but the test was actually activated only from January 1, 2024, over a year after the child’s death. Since then, the test has been offered in all birth points of Veneto.

How many children could be saved?

Not all children are saved, even with an early diagnosis, but denying someone the opportunity to try it is unacceptable. This is an important message to give not to feed too optimistic hopes, but the reflection on which I would like to pay attention is another: must there always be a tragedy to change something?

Ettore’s story has moved consciences, pushing some regions to activate the extended screening for the SMA, but not all have still made it operational. Even today, a child born in a region without screening may not receive the diagnosis in time to access the therapies that, administered early, can radically change the clinical history of the disease.

Screening is already active in Abruzzo, Campania, Emilia-Romagna, Friuli-Venezia Giulia, Lazio, Liguria, Lombardy, Piedmont, Puglia, Tuscany, Trentino-Alto Adige, Valle d’Aosta and Veneto. Other regions, such as Sardinia, Sicily, Marche, Calabria and Basilicata, have projects in the start phase, with strong dysomogeneity in the implementation times. Molise and Umbria remain, to date, the great absentees.

But I want to tell you another story.

The cure denied to Gioia

Little joy is three years old and suffers from metacromatic leukodystrophy (MLD), a serious neurodegenerative disease of rare and progressive genetic origin that affects about a child every 100,000. Symptoms include progressive loss of the use of limbs, hearing and vision. Although effective cure has been developed, also thanks to the basic research carried out by Telethon, this must be administered to the very first symptoms, or ideally before it appears, to arrest the progress of the disease.

Gioia was born in Emilia-Romagna, where this pathology is not yet tested, unlike Lombardy and Tuscany, the two regions where screening is already active. It is important to specify that the delay is due to the need to develop and validate a reliable diagnostic test, a process that required international time and collaboration.

The story of joy highlights another paradox: while the therapies for some rare diseases are available, their effectiveness depends on timely diagnosis, made possible only by adequate neonatal screening which, however, is not yet there.

The mother of Gioia, Giulia, shared her painful story: the symptoms of her daughter are progressing irreversibly and the girl will not be saved. Giulia’s appeal was relaunched by the artist Filippo Neviani (aka Nek) and by numerous associations, asking the Emilia-Romagna region to activate the screening for the MLD.

The story is always repeated with the same script: it is intervened after a family has been overwhelmed by bureaucratic absurdity, after public opinion has been outraged. It always serves a symbol case, a name to be associated with an injustice, because the system shakes. In these two stories are the names of Ettore and Gioia.

Born with different rights: when health depends on the cap

The introduction of reliable diagnostic tests and the expansion of neonatal screening programs are fundamental steps to guarantee equal care opportunities for all children, regardless of the region in which they live. Each child has the right to be born in a country that does not wait for his death to give him access to a life -saving diagnosis.