It’s called Smith-Magenis and it’s a rare genetic disease. Although about 600 cases are described in the world, it is estimated that it can affect up to one person for every 15,000 inhabitants. But it is a syndrome of which little is known and even less talked about. The Beyond the Invisible project was born from the need to know and study it
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“Receiving a similar diagnosis I think with all due respect can be almost comparable to living after a major earthquake – tells Fabio, father of the Smith-Magenis Italia Association – The impact is devastating, you feel crushed by a weight that is not easy to bear. Whatever the personal response implemented, the starting point, I think, is this: one feels upset, out of breath, with no way out”
Is called Smith-Magenis and it is one rare genetic disease. A syndrome of which little is known and even less talked about. Although about 600 cases are described in the world, it is estimated that it can affect up to one person for every 15,000 inhabitants.
How Smith-Magenis syndrome manifests itself
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“It manifests itself through a neuro-cognitive deficit of variable degree – explains the dr. Davide Valacchi, clinical psychologist – that is, a mild or medium mental retardation, a delay in the stages of development and language, an alteration of the sleep-wake rhythm, skeletal anomalies and muscular hypotonia and the susceptibility to develop behavioral disorders of various kinds. The symptomatology is extremely variable from subject to subject. But in any case it has a very impactful impact on the life of the subject and his family “.
The moment in which the diagnosis is received is also difficult, as Fabio tells us.
“Against the disease you almost at least have the illusion of being able to overcome it with a cure. If you are diagnosed with a genetic condition at the beginning it seems that there is not even that hope, then over time, with growth paths that are absolutely personal, concepts of acceptance of overcoming the limit and of a real possibility even beyond the invisible”.
Beyond the Invisible
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Smith-Magenis syndrome, what it is and how many cases there are in Italy
E Beyond the Invisible is the name of the project that involves over 15 families scattered throughout the country and who have joined the research. It will be Dr. Vlachs to conduct the investigation, living their daily lives. He will tour Italy, accompanied by some guides, using a tandem.
“The survey will complement the great work carried out for years by the Center for Rare Diseases of Gemelli Polyclinic of Rome – explains Dr. Vlachs – The name Beyond the Invisible is inspired by the fact that I am blind and with my journey I will try to highlight the incisive but equally hidden aspects that affect the everyday life of families who live with the inconveniences caused by syndrome”.
The aim of the study is to be able to draw up a document of guidelines with respect to the syndrome“finally recognized on a national level – is Fabio’s wish – An indispensable tool for the achievement of early diagnoses and timely care aimed at the greatest possible benefit of the syndromes with finally clear therapeutic indications shared on all territories. Even today, families are still too often told by clinicians, teachers, therapists: “I’m sorry, I don’t know, we don’t know anything about it”. Here’s with the guidelines, this must never happen again.”
The office of the Gemelli Polyclinic in Rome
“The Smith studio in the context of the Beyond the Invisible project is an example of how there can be a virtuous partnership between a family association – the Smith-Magenis Italia association – and a research and treatment center such as the Rare Disease Center of the Gemelli Polyclinic – explains the Prof. Roberta Onesimo, pediatrician at the Gemelli Polyclinic in Rome – By joining forces, a project has been created to personalize treatment for rare diseases: children and adults will also be followed up in the home, in schools, in rehabilitation centres, by a qualified psychologist. These observations will then be combined with the structured assessments, to create an increasingly well-known, increasingly known, neuropsychological behavioral profile in the context of a rare disease that seemed unknown until now”.
The importance of knowing about Smith-Magenis syndrome
Knowing the syndrome, gaining greater awareness of what to do when diagnosed and which path to take are necessary steps.
“The impact of the diagnosis on families is practically always devastating. In many cases it is preceded by months or years during which it is first realized that something is wrong with the child, then the cause of these anomalies is sought for a long time. As mentioned, it is a rare disease, therefore many specialists and professionals still do not know how to recognize and diagnose it – specifies Dr. Vlachs – Depending on the case, this can generate in families either the hope that there isn’t a real disease to deal with, or in other cases the fear that the child’s problems will remain forever without an explanation. Then when the diagnosis arrives, after tiring and stressful years, it takes a long time to metabolize it and to find the right way to insert it into one’s life story as a parent”.
Fundamental, therefore, it is know, inform and raise awarenessas Fabio reiterates, who adds: “I truly believe that having the opportunity to deal with these issues is rare and precious. It is essential to give a voice to those who don’t have one and it is essential to try to grow together as a civil society”.
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