“It was a year that I will remember forever. I can calmly say that my son today has 2 dates of birth, that of 22 January 2020 in Catania, and that of 22 May 2023 in Rome”, when he was administered at the Polyclinic Umberto I gene therapy for the very rare disease from which he suffers, Aadc deficiency. 2023 is a year of hope for little Simone, who will blow out 4 candles in January 2024. His father, Sebastiano Licciardello, sums things up: “Simone, apart from the flu”, which he is dealing with during these festive days, “is fine. After the gene therapy he has made giant strides”. If the prospect was no motor development, today in reality “he is starting to take his first steps. Accompanied by me or my wife he walks calmly. Something that did not happen at all before the operation”, he tells Adnkronos Salute.
His is one of the symbolic stories of 2023. Simone's case moved Italy, after his parents wrote a heartfelt letter to Prime Minister Giorgia Meloni to ask for help so that the child could receive a treatment that other children had already received in France and Germany, but which was not yet authorized in Italy. Simone was the only one of the 16 Italian patients eligible to receive it. It is an innovative therapy capable of modifying the course of the disease. The Government took action and a solution was found. The treatment, approved by the European Medicines Agency EMA, was thus infused directly into Simone's brain with a neurosurgical operation that lasted 8 hours, performed at the Policlinico Umberto I in Rome, the only equipped and authorized facility in Italy. 7 months have passed since then. And the first tangible signs are visible, explains the father.
From now on, among other things, this therapeutic option will not remain in the order of 'exceptional cases'. In the sense that, in the Official Journal of 4 December, the determination was published with which AIFA attributes reimbursement to this gene therapy used for Simone: eladocagene exuparvovec, developed by PTC Therapeutics. The awaited approval has therefore arrived and any future patients will be able to benefit from it. The holidays, says father Sebastiano, “we are spending them not in the best of ways, given that Simone has had a high fever since Friday and only yesterday it seems to have subsided, but overall – he repeats – this has been a year that I will remember. 2024 it will continue to be a year of discovery and obviously we hope that my son will be able to walk (goal almost achieved) and above all to speak. Here we are still very far away, given that he is still unable to do so, except for a few vocalizations or the classic mother and dad. But we are hopeful for all the stages he still has to reach, and to this day I always thank everyone who made the miracle that happened to my son possible.”
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