(Adnkronos) - “L’atrofia muscolare spinale è una malattia genetica autosomica recessiva in cui entrambi i genetori sono portatori sani della malattia. Prima del 2017 era la prima causa di morte nell’infanzia con la forma uno, prima della diagnosi nei primi sei mesi di vita. Dall’avvento dei farmaci c’è stata una vera rivoluzione copernicana perché i bambini con la forma uno non muoiono più. Inoltre l’arrivo dello screening neonalate ha sovvertito in maniera definitiva questa situazione – lo dichiara Marika Pane, direttore clinico del Centro Nemo pediatrico di Roma e professore associato di Neuropsichiatria infantile all’Università Cattolica del Sacro Cuore di Roma –. La Regione Lazio ha iniziato con un progetto pilota nel 2018, ancora qualche Regione manca totalmente di interesse ma speriamo che lo screening diventi nazionale su tutto il territorio e che arrivino le firme dei nostri ministri”.
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00:00The spinal muscular atrophy is a genetic, autosomal, recessive disease in which both parents are healthy carriers of the disease.
00:12In recent years, the natural history has radically changed.
00:16Before the advent of new treatments, which came in 2017, it was a really devastating disease,
00:25because it was the first cause of death in childhood, especially if we had children with type 1, the most serious form, and with a diagnosis before 6 months of life.
00:35If we had a child in which the diagnosis came around the year, we did a type 2 spinal muscular atrophy diagnosis,
00:42in which the child acquired the ability to sit independently, but not to walk,
00:48and a type 3 diagnosis, after 18 months, with the ability to walk, but which, especially if it is a very early diagnosis,
00:57this ability, especially in adolescence, could be lost.
01:01Since the advent of drugs and treatments, I like to talk about a real Copernican revolution, or a 3.0 SMA,
01:10precisely because all this, what I have told you, is happening less and less,
01:15so, fortunately, children with type 1 do not die anymore, and I believe that this is really the great revolution,
01:23the great victory that the scientific community and the family association have achieved in recent years.
01:30But then the arrival of newborn screening, and therefore of neonatal screening,
01:35has still radically and definitively subverted this situation.
01:41The advent of newborn screening, on the one hand, has simplified our lives, it is a wonderful thing,
01:47we do the diagnosis in the very first days of a child's life.
01:52Communicating it, on the one hand, is simpler, on the other it is more complicated.
01:57On the one hand, it is simple, because then you have the opportunity to offer something to two young parents
02:03to whom diagnoses a disease of this kind, and above all, you offer them a completely different quality of life
02:10compared to what it was, banally, six or seven years ago.
02:14On the other hand, of course, it is a bit like breaking a castle.
02:18We, let's say, break what is a castle that in nine months these two young parents built,
02:25and therefore, let's say, it is certainly a strong impact, a very strong emotional impact that must be managed,
02:32and therefore we also need the help of psychological support.
02:37We try to communicate the diagnosis together with the geneticist, but then also together with a psychological support
02:43that follows the family along the way and also in the therapeutic choice.
02:48We in the Lazio region were lucky because we started in 2018 together with the Tuscan region with a pilot screening
02:55and this was a wonderful thing.
02:58It was really an emotion for us to do it, to start it and to continue it,
03:03because then, thanks to our region, we continued and we continue to be able to carry it forward.
03:12There is still some region that is totally lacking in interest and totally lacking in initiative.
03:19We are furthermore sorry about this, but we hope and believe that this thing should really become national,
03:29so we really hope, in the signature of our ministers, that this thing can then become national throughout the territory.