“Improving the information that revolves around the vast world of rare diseases, both in terms of quality and pervasiveness, means concretely helping people who deal with rare diseases, not only as patients”. This was stated by Bruno Dallapiccola, scientific director of the Bambino Gesù pediatric hospital in Rome, speaking at the presentation of the second edition of the social talk ‘TheRAREside – Stories on the edge of rarity’, created by the Osservatorio Rare Diseases in view of the world day of rare diseases, which is celebrated on February 28th. The Omar campaign which has the patronage of Ferpi, Alleanza Rare Diseases, Bambino Gesù Children’s Hospital, Uildm and Uno Sguardo Raro – Rare Disease International Film Festival.
“Being able to give concrete answers – added Dallapiccola – means making them protagonists, helping them in their daily life path. This is also why Orphanet was born, the largest international information network on rare diseases involving about forty countries in the world and which has its headquarters in the Child Jesus. It is essential to put the spotlight on the social needs, not just clinical, of the sick. rare and their families. In order not to leave them alone in the face of the uncertainty of diagnosis or disorientation in the choice of the hospital and the medical team to rely on for the treatment process “. By virtue of this collaboration with the pediatric hospital of the capital, one of the 6 episodes of #TheRAREside will be dedicated to two stories collected by the Child Jesus.
“The theme of information and communication – underlined Dallapiccola – is one of the six pillars on which the whole issue of rare diseases rests together with diagnosis, disability, research, training and patient involvement. Much progress has been made in the last 20 years but there remains a great need for information from patients. However, on the level of rare diseases we know that it is difficult to correctly inform for the simple reason that the contours of these diseases are far from defined: we do not know how many rare patients are, we do not know how many rare diseases are, let’s talk about 7- 8 thousand but in fact if we compare the databases we know that there are more than ten thousand, and that 85% are ultra-rare, with few patients worldwide “.
“In addition – he underlines – there is an undeclared, about 6% of rare patients who do not yet have a diagnosis. All this leads to a lack of information, a lack of experts, a lack of references and treatments. here the great loneliness of patients and families “. There is a need” to inform in a differentiated way – still urges Dallapiccola – because the information we give to health professionals is different from that we provide to patients rather than to the large public, as happens on the occasion of the world day of rare diseases “.
In recent years “we have realized – he remembers – that talking about rare diseases is important because it generates knowledge and awareness and, above all, when we talk about scientific progress, we generate hope thanks to precision therapies, but on this front there is still a lot to do because we have a lot to learn, especially about ultra-rare diseases. And for this very reason, at the level of the medical profession, those who talk about rare diseases are the best craftsmen because they are confronted with little-known problems, so they have to work somehow in an artisanal way. But the information given by a doctor to a colleague or to a patient is fundamental. But to inform you need to know, to know you need to study with passion and humility, and in the field of rare diseases the study must be continuous, you need to acquire a transversal medical culture because rare diseases not only concern all specializations but are often even multidisciplinary because multi-systemic “he concludes.
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