Thanks to the evolution of research, especially in the field of genetics, the prospects for treatment mark important steps forward. It talks about it in the free newsstand insert on Thursday 28th with Corriere della Sera
We are publishing a preview of an article in the new Corriere Salute. You can read the full text on the issue at newsstands for free on Thursday 28 April or in Pdf on the Digital Edition of Corriere della Sera.
The rare patients in Italy would fill a subway 175 kilometers long: there are about two million, between adults and children, and the estimates according to experts are low. One in five patients are under the age of 18, and 70% are diagnosed in childhood. Taken individually, the approximately 8,000 rare diseases surveyed by the World Health Organization (but even this number is very likely lower than in reality because it is difficult to collect precise data), they interest few people, but as a whole they have an enormous impact. Those suffering from a rare disease, which often has a genetic origin and strikes in early childhood, are forced to sacrifice a large part of their time and energy for visits, examinations, checks – underlines Annalisa Scopinaro, president of Uniamo-Italian Federation of rare diseases -. Many then have to deal with disabilities of various kinds and with the psychological burden of their condition. Patients and their families are unable to live their lives to the full, missing out on many important moments. Only a few, then, can count on effective therapies.
To analyze the care needs of this heterogeneous multitude of people, who often also suffer from the loneliness of those who cannot even count on companions in misfortune and on the great support that derives from the comparison with people who live the same condition, Uniamo conducted a survey that also analyzed the economic and social costs of rare diseases in Italy. The first necessity is to give a name and an explanation to the ailments from which the patient suffers. 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 identify and treat. So the average time for a diagnosis of 4 years, but it can go up to 7. Having an early diagnosis is the starting point – says Scopinaro -. It is essential that newborn screening be extended for all pathologies for which there is a cure (today in Italy it is performed on almost 50 pathologies and much better than in the rest of Europe, ed). Genetic investigations must be done, without wasting precious time, for cases in which there is a diagnostic suspicion or no obvious cause for the symptoms is found. The delays are still too many. The specificity and low number of each rare disease means that the truly specialized centers are relatively few. It is therefore necessary to ensure, if the reference center far from the patient’s place of residence, that a relationship is established with the hospital close to home, with a constant exchange of information and skills (which also involves the pediatrician and the general medicine) in order to facilitate, as much as possible, the already difficult existence of rare patients and their families.
The research conducted by Uniamo highlighted that families have to bear costs related to the pathology, direct or indirect, up to 1,500 euros per month for visits, examinations, drugs or other medical aids. In addition to this there are patients who have to reduce or stop professional activity (57% of respondents in the survey) and caregivers forced to limit or give up work (72%) to meet the patient’s health or social needs. In short, these families spend more and earn less (there is a drop in income in over 54% of homes) and this leads to impoverishment and a documented difficulty in making it to the end of the month (for almost 40% of respondents ).
You can continue reading the article on the Health Courier on newsstands for free on Thursday 28 April or in Pdf on the Digital Edition of Corriere della Sera.
April 26, 2022 (change April 26, 2022 | 18:38)
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