It allows you to immediately start the treatments available today. Little Ettore, born with type 1 SMA but not diagnosed at birth, did not make it: a warning that there are no other avoidable deaths. Pallara: Ready to mobilize in the streets
Ettore was born a month ago withSpinal muscular atrophy (Sma) type 1the most ferocious among them leading causes of death in childhood in our country. He had not been diagnosed
at birth since, in the Venetian hospital where he was born, Newborn screening for SMA is not performedwhich allows you to individuate this terrible rare neuromuscular disease in the first hours of life and start
the treatments available today immediately which allow affected children to save life and also of avoid serious disabilities.
To date they have dentitled to newborn screening for SMA
only children born in certain regions, who independently decided to do so with regional measures. Once again, during a meeting in the Chamber of Deputies – promoted by the Honorable Ilenia Malavasi, member of the Social Affairs Commission -, the SMA Families association, OMaR- Rare Disease Observatory and some parliamentarians once again loudly ask that the test at birth it is a right of all children born in Italy. Why doesthere
difference between life and death, as in the case of little Ettore
The disease, the test and life-saving therapies
Sma is one rare genetic disease which mainly affects the nerve cells of the spinal cord from which signals to the muscles originate, progressively compromising the ability to walk and, in the most serious cases, of swallow and breathetill death.
Thanks to advances in scientific research, today there are gods effective treatments – including gene therapy (intervenes directly on the genetic defect with a single administration ed) – which allow babies born with SMA 1 to have a normal life (or almost), like their peers. Studies show that the earlier the therapies are intervened – even before the symptoms of the disease appear -, the greater their effectiveness. This is why it is important timely diagnosis, now possible at birth Thank you to newborn screening for SMA. But the test is only done in about ten Regions. Why?
Still waiting for the ministerial decree
For newborn screening for SMA and to identify other serious rare diseases to truly be the right of every child born in Italy, the signature of the Ministerial Decree is required which updates the list of pathologies to be tested with the ENS (free and compulsory throughout Italy , since 2016 with law n.167, for over 40 congenital metabolic diseases). Mid-October the Ministry of Health, consulted by Courier
(we wrote about it here), had assured that the Decree era “in the home stretch” being “at the Cabinet Office” for signature; but to date there hasn’t been one yet. The life of children with SMAHowever, don’t wait for the long times of bureaucracy.
Families: Ready to mobilize in the streets
«We are saddened but also deeply angry, we feel betrayed by our country – said Anita Pallara, president of Famiglie SMA, who also sent a letter to the government representatives -. No one can say they didn’t knowthis situation has been reported for years and there is also a very long line of parliamentary questions to which the Ministry has repeatedly responded that “it is a matter of time”. Ettore’s story shows us that there is no more time, we can no longer wait. The update of the panel for the ENS is an urgent decree. We expect a concrete act from the Government soon. If our requests remain unheard and the Decree is not signed shortly by the Minister, we will be in the streets in a permanent sit-in.”
Ilaria Ciancaleoni Bartoli, director of OMaR, added: «It is unacceptable that while science makes great progress, while the legislative power approves cutting-edge laws to guarantee the right to health to its citizens, the executive power remains stagnant. Three governments have followed one another without the panel’s update decree being signed. Now we need the Ministry of Health to approve the Decree, immediately, without wasting another day.”
Clara was born with SMA in 2020. «We are lucky, because Clara was born in Lazio where neonatal screening for SMA was already active – said the father -. Within two weeks of birth she had access to therapy, today she is 3 years old and has no symptoms of SMA, she walks, talks, runs.” The girl’s mother added: «Today there are three therapies and it is not possible for children today to die because they did not take the test at birth, like little Ettore. We are fighting to ensure that newborn screening is a right for all children.”
The appeal to the minister
The parliamentarians present at the meeting, the honorable Malavasi and Lisa Noja, the presidents of the parliamentary intergroup for rare diseases – senator Orfeo Mazzella and honorable Maria Elena Boschi – reiterated that all the political forces agree on the extension of the NES to the pathologies identified by the ministerial commission and appealed to the Minister of Health to immediately sign the Decree giving the green light to neonatal screening for SMA in all Regions.
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November 16, 2023 (changed November 16, 2023 | 3:00 pm)
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