Birth diagnosis and innovative therapies today allow children with spinal muscular atrophy to walk, run, jump like everyone else. A short film tells them
Aurora a beautiful little girl with tails and one of the two little protagonists of the short film presented at the Giffoni Film Festival that opened The SMA faces together, a meeting of the Tempo della Salute during which Emilio Albamonte, child neuropsychiatrist of the Nemo Clinical Center in Milan, Francesca Gasbarri, Digital Project Manager of the Rare Diseases Observatory, and Simona Spinoglio, psychologist and member of the SMA Families Association. Aurora has spinal muscular atrophy, or SMA, and her wonderful smile is why it is vital that researchers, doctors, patient organizations and industry join forces to combat this rare and inherited neuromuscular disorder. Because today it is possible to win it.
Rare disease
SMA, which affects about one baby for every 10,000 new births, is caused by mutations in the SMN1 gene that encodes a protein essential for the survival and functioning of motor neurons, the cells that carry nerve signals from the brain to muscles to control movement. Albamonte explains: Depending on the mutations present and the amount of protein produced, but also on the age of onset and the severity of the symptoms (mainly weakness and progressive muscle atrophy, ed), several more or less severe variants of SMA are identified, from zero SMA, the most serious that appears in intrauterine life and rapidly compromises the ability to move, breathe, swallow, to SMA1, also severe in which the protein is almost completely absent and which manifests itself within six months of life; the least severe but also the rarest is SMA type 4, which appears in adulthood. Until recently, the only treatment option was symptom management to try to improve patients’ quality of life; today there are three specific therapies, namely two treatments based on antisense oligonucleotides that act by stimulating a protein that ‘vicarious’ the functions of the missing one and a gene therapy, which provides the body with a healthy copy of the SMN1 gene. A panorama unthinkable until recently, the result of scientific research.
Neonatal screening
The first therapy was approved in 2017 and as specific Albamonte The sooner you intervene, the better the chances of success. If with newborn screening the babies carrying the genetic mutation are identified at birth, they can be treated and thus have a normal life: they walk, run, jump. Beyond the immense value for each of the little patients, this also translates into economic savings for the system and society, also because not screening newborns certainly does not exempt them from treating them when they are then diagnosed, in the following months and years. . In short, there is no saving in not offering treatment as soon as possible. Simple and inexpensive newborn screening: just a drop of the newborn’s blood is enough, the same that is used for the already mandatory screening of over 40 hereditary diseases, adds Gasbarri. For SMA, screening is not available everywhere today: there are projects in Lazio and Tuscany, others are starting in Puglia, Campania, Piedmont, Lombardy. The goal OMAR is aiming for is that it will soon be possible to carry it out to all newborns, throughout Italy, so that all children can have the same opportunity to be treated. The SMA Families Association also works for this purpose, which, as Simona Spinoglio explains, tries to make people understand that the life of patients is also made up of social, relational and working needs. The wheelchair is only a small piece of patients, who first of all are people: understanding it, listening to their needs means understanding that they are bearers of a diversity that enriches society and all of us, because for example it promotes a school that is inclusive of all. the differences. Because we are all different, each in his own way. The value of offering all children an opportunity for treatment is perceived by looking at the short film that tells the life of children with SMA, a project by OMAR and patient associations that excites and an opportunity to make everyone understand how important it is to collaborate. , to disseminate information on this disease and support patients and their families. Because Aurora’s smile is invaluable.
November 13, 2022 (change November 13, 2022 | 19:09)
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