Many initiatives for patients and family members who, suffering from an uncommon pathology, have many more problems. 70% occurs in the pediatric age
They are sick, but it takes months or years to name the pathology they suffer from. It is even more difficult to find a specialized center to rely on. Therapies do not always exist and even scientific research struggles. To complete the picture there are patients, often children (and their parents and siblings), with all the difficulties of daily life: from those present on the body directly from the disease to those caused by frequent stays in hospital, with economic and working repercussions, up to the psychological impact. February 28 is dedicated to the 300 million people living with a rare disease in the worldRare Disease Day.
Two million rare patients in Italy
“To date there are between 6 thousand and 8 thousand rare diseases surveyed by the World Health Organization (but the estimates are downward), which individually affect a few people, but as a whole have a huge impact – underlines Annalisa Scopinaro, president of Uniamo – Italian Federation of rare diseases, which organizes and coordinates the Day in our country -. Those suffering from a rare disease (which often has a genetic origin and affects early childhood) are forced to sacrifice a large part of their working or free time and energy for treatment. Patients and their families are thus unable to live their lives to the full, missing out on many important moments. Only a few, then, have therapies: research is also slower because the resources dedicated to studies are lower and it is more difficult to gather information from the few cases “.
The numbers
At European level a disease is defined as rare if it affects less than 1 person in 2 thousand. If rare diseases are a very large and diversified group of diseases, in fact they affect a small number of people and consequently cause specific problems linked to their rarity. 72% of these diseases have genetic origins20% have environmental, infectious or allergic origins, 70% occurs in the pediatric ageeven when the disease has no genetic origin. Only for 6% of people with a rare disease is there a cure and the majority of patients have no access to treatment. In addition to being rarely found, these diseases have symptoms and manifestations that also vary from person to person, making them even more difficult to diagnose and treat. Like this the average time to diagnosis is 4 years, but can be as long as 7. To make matters worse, there is the fact that rare diseases have a chronic and often disabling trend, because they tend to worsen over time. “For this reason it is necessary to integrate health and social assistance – underlines Scopinaro -: people living with a rare disease and their families often find themselves facing heavy social and economic costs. So much so that 8 out of 10 have difficulty managing the ordinary aspects of the life of the affected person and of the family ».
The initiatives
In 2022 we celebrate the fifteenth edition, an important “birthday”, celebrated with appointments and initiatives that will take place throughout Italy, with the aim of raising awareness among citizens and spreading knowledge on rare diseases. A Day that received the institutional partnership of the Higher Institute of Health and the patronage of the Dicastery for the service of integral human development established by Pope Francis, in which children and parents, caregivers and family members can finally see themselves more recognized and perhaps even more listened to. . On the Federation website (www.uniamo.org) it is possible to download social materials, buy the t-shirt dedicated to the event (donating the proceeds to the association) and find out about scheduled events. An institutional event is scheduled for 28 February in the morning in Rome and, among the various initiatives, on the evening of Monday 28 February, thanks also to the patronage of the Ministry of Culture, monuments all over Italy will light up in pink, blue and green to bring the attention of public opinion to the social and clinical problems of those living with a rare disease and to show solidarity and closeness to the world community of people with rare diseases and their families.
The agreement
On the occasion of the Day, an agreement was also signed between the Bambino Gesù Pediatric Hospital of Rome, Orphanet and the Rare Diseases Observatory (OMaR) which institutionalizes a ten-year collaboration between the parties to increase the centrality of rare patients, their families and associations. That is, to put people and their needs at the center, not only as sick people. The three-year agreement provides for the construction of joint initiatives on the front of communication and training on rare diseases, the organization of themed meetings and conferences, the taking charge of requests from patients and associations. “For years it was thought that rare diseases were about 8 thousand – he explains Bruno Dallapiccola, scientific director of Bambin Gesù, which has the largest national case history of rare patients in the pediatric age -. A recent study based on the main existing data sources showed instead that they exceed 10 thousand. It means tens of millions of people around the world, most of whom are children and teenagers. The collaboration agreement is important precisely because it aims, through the systemization of the clinical and laboratory skills of the Child Jesus, of the European level knowledge of the Orphanet network and of vertical communication dedicated exclusively to the world of OMaR rarity, to offer services even closer to families affected by rare diseases“. Several initiatives were also put in place by the Roman hospital, OMaR and Orphanet for the world day of rare diseases on Monday 28 February.
February 25, 2022 (change February 25, 2022 | 18:48)
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