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.
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