In our country there are about 2 million patients, including adults and children, one in five is under the age of 18 Diagnosis often takes a long time. And there are few specialized centers able to take care of them
The rare patients in Italy would fill a 175-kilometer-long metro: there are about two million, between adults and children, and the estimates according to experts are low. One in five patients is under the age of 18, and 70% are diagnosed in childhood. Taken individually, the approximately 8 thousand 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 , which organizes and coordinates the day in our country -. 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.
The survey on social and economic costs
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 the great support that comes from confronting people who live the same condition, Uniamo conducted a survey which 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 diagnose and treat. Thus the average time for a diagnosis of four years, but it can be up to seven. Having an early diagnosis is the starting point – says Scopinaro -. It is essential that neonatal 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). Genetic investigations must be made, without wasting precious time, for cases on which there is a diagnostic suspicion or on which no obvious cause for the symptoms is found. The delays are still too many.
Two years for diagnosis
The specificity and the scarce 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 family) in order to facilitate, as much as possible, the already difficult existence of the rare patient and his family. Six out of 10 people with rare disease of those involved in the UNIAMO survey received the definitive diagnosis in pediatric age: 18.9% at birth and another 16.8% in the first year of life. The average time from the onset of the first symptoms to the time of diagnosis was about 2 years. The great majority of the affected patients, including adults, live in a family and in 10.2% of cases there are more people with rare disease within the same family unit.
Treatment centers and costs for families
The research conducted by UNIAMO has highlighted that families have to bear costs related to the disease, direct or indirect, which can even reach 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 decline in income in over 54% of homes), and this leads to impoverishment and a documented difficulty in reaching the end of the month (for almost 40% of respondents). In 66.7% of cases the definitive diagnosis was made in the region of residence. 60.9% of patients have a referral center in the region where they live (in 21.8% of cases in the city in which they reside), in 15.8% in a region bordering that of residence and in 20, 3% in a non-neighboring one. In order to go to the hospital of reference in the last year, 30.9% of the interviewees had to stay overnight away from the referent’s home and 62.7% of the workers had to take time off from work.
Few treatments are available
When there is an effective therapy, the quality of life of the sick and family members improves considerably – explains Gian Vincenzo Zuccotti, director of the Pediatric Clinic of the Vittore Buzzi Children’s Hospital and dean of the Faculty of Medicine at the University of Milan -. Above all thanks to advances in genetics we have been able to develop innovative treatments, which make even a “normal” existence possible, but there are still too few rare diseases that have a cure and for this reason it is necessary to encourage scientific research, approve the implementing decrees for clinical trials, ensure as far as possible early access to treatments (without differences between regions), especially when there are no therapeutic alternatives. From this point of view, we are also behind the European deadlines.
The value of time
Another great need linked to time. One third of people with rare disease have to go to hospital for checkups once a year (37.4%), 12.5% monthly or more than once a month, 37.9% every three to six months . In a third of cases this also means having to stay overnight away from home. An inconvenience to which school and work absences must be added, for those directly concerned and for their carers. And again: for rare patients, access to the emergency room is almost double that of the general population and admissions to reference centers (for therapy or examinations) about five times higher. Then there are to be added, especially when the pathology causes disability, both the daily hours spent by caregivers in support of the patient for the normal activities that they are unable to carry out independently, and all the time required by the various types of rehabilitation. Given the high number of visits and examinations, it is decisive to make an effort to optimize time in the hospital, guaranteeing more checks on the same day – explains Luigina Spaccini, specialist in the Buzzi Medical Genetics clinic -. It is necessary to create dedicated paths, a doctor who keeps the ranks with the other specialists who are needed from time to time and who is a single point of reference for the patient. It is important to give schedules compatible with school and work activities and to move, whenever possible, the therapies at home – adds Scopinaro -. The use of telemedicine and tele-assistance should be regulated and encouraged whenever possible.
Psychological support and bureaucracy
The psychological support is also decisive, which is decisive from the moment the diagnosis is communicated. An extremely difficult moment, with a disruptive impact, as well as on those directly concerned, on the parents of the children and their siblings. A psychologist should always be part of the multidisciplinary team that follows the patient, so as to be able to detect discomforts and needs and help both patients and carers, those who live with them, to offer the whole family the best quality of life obtainable concludes Zuccotti. Last, but not least, the bureaucracy that greatly complicates the days of rare patients, on a front in which they are left alone to extricate themselves between different practices, in different offices, which also require specialists with different skills. Several doctors for visits and exams; the ASL for the various medical aids, which must be certified by a specific office; the INPS for the recognition of disability and handicap; the Municipality of residence for the support to the crèches and the school transport, as well as for the educator in the compulsory school; neuropsychiatry for the Individualized Education Plans (IEP) for the scholastic path of pupils with certified disabilities and the certification of rehabilitation needs. And the list is still very, very long.
Neurorehabilitation in support of the little ones
Neuropsychomotor rehabilitation for children with developmental disorders; psychomotor skills to help them integrate motor, emotional, intellectual and social functions and interact better with the surrounding environment; speech therapy to improve speech, language, communication, swallowing and related cognitive problems; physiotherapy to prevent or treat problems related to the musculoskeletal system or neurological. Rehabilitation therapies can be very useful for people with rare diseases – says Luigina Spaccini, medical geneticist at the Buzzi Hospital in Milan -, especially for the vast majority of pathologies that do not have pharmacological treatments. However, it must also be ensured that these treatments are not administered in short “cycles”, as happens for temporary rehabilitations. To guarantee an effective long-term benefit, it is necessary to give continuity and foresee that they continue as long as necessary, even months or years.
June 27, 2022 (change June 27, 2022 | 19:58)
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