The term Rare Diseases refers to those conditions which affect less than 5 cases per 10,000 inhabitants. They are heterogeneous, very numerous conditions (the World Health Organization has calculated the existence of about 8,000 known and diagnosed rare diseases) and they are a public health care problem for the strong impact they have on the population: it is estimated that there is a patient with a rare disease for every 200 inhabitants, but probably this is an underestimated data.
In Italy there would be from 450,000 to 600,000 rare patients. Since 2001, treating Rare Diseases has been acknowledged as a priority of national importance (law n.279 / 2001).
The concept of rarity includes the diagnostic and health care problems that rarity involves. These problems include the difficulty to be diagnosed, the complexity of approach, the chronicity, the high cost of treatment and management. This means that a long time is required for diagnosis and a coordinated, multidisciplinary, multisectoral and multidimensional approach is needed.
The Gemelli General Hospital offers to patients and their families:
• multidisciplinary approach;
• integrated resources’ management;
• continuity of the health care with dedicated transition paths;
• continuity of the health care, both in the specialized Center and throughout the local area
• emergency management;
• highly complex examinations’ possibility;
The 5 Elements of a Rare Disease:
The first element that identifies rare diseases is almost always represented by chronicity. Treatment is prolonged over the time so it becomes essential to identify a referring center/doctor who allows integrated health care for all the patient’s needs. The patient and family need to find a doctor who has experience, who knows the condition, who coordinates the procedures needed by the patient and who cooperates with the local doctor. In congenital syndromes, rather than talking about chronic disease, we talk about a chronic condition. Patients coexist with the disease, so treating the disease means taking care of patients for most of their life.
Thanks to a close collaboration between Pediatrics, Adult Medicine and Geriatrics, the Agostino Gemelli IRCCS University Hospital Foundation has created a unique Transition model on the national and international scene, ensuring the health care for the whole life of the person affected from a rare disease.
The second element that characterizes rare diseases is the involvement of many organs and functions (“Multisistemicity”) and this means that the contribution of various specialists is needed. This can be achieved essentially in those structures that can ensure a high-level multi-specialist health care and that can provide a coordinated multidisciplinary approach in order to establish the different priorities of the procedures, making the care process sustainable for patients and their families.
The Agostino Gemelli University Hospital Foundation IRCCS ensures a high specialized level and a personalized multidisciplinary approach allowing a wide possibility of intervention.
The third element is represented by the "Complexity of the illness". The rarity of a condition is often associated with difficulties in having a diagnosis and in finding conventional or effective treatment strategies. This means that study, research and integration of knowledge (University Hospital) are needed.
The Agostino Gemelli IRCS University Hospital Foundation is a Scientific Institute of recovery and cure, a General Hospital that pursues clinical and translational research in the biomedical field and in the organization and management of health care services, it also carries out excellent health care activities and activities of research in the Italian and international scene.
The fourth element is linked to the fact that, in most cases, rare diseases are genetic and disabling. These conditions have implications for the entire family. Many data show how the patient’s care needs significantly affect family life, economic, social and interpersonal relationships, especially as concerns parents and healthy relatives.
Every parent, when a child with a malformation syndrome is born, asks why. The answer they want is not just an etiological definition, but an answer which has a “meaning”. Science more and more allows us to give etiological answers, but it is not always able to give existential answers.
The Agostino Gemelli University Hospital Foundation and its professionals are committed to give an answer which also shows closeness to the families.
The disability support becomes a mission for those who believe and support life. The Agostino Gemelli IRCCS University Hospital Foundation, with its Rare Diseases’ Center, gives a clear and concrete message about that.
The fifth element is to be a rare disease. "Fragility is often in being rare", this means do not have points of comparison that allow to find strategies, even in everyday life. Patients and their families often feel lonely. In this situation it is necessary to make the “different person” feel like the others. This happens allowing the sharing of experiences by supporting the Patient’s Associations. Equally important is also to train doctors and other health care workers to understand these conditions and the related clinical problems.
Sometimes the disease is so rare or unrecognizable that it does not have compelling diagnostic hypotheses. Even when the whole diagnostic process is done optimally, a certain number of patients with no diagnosis will remain. Failure in having an etiological diagnosis cannot affect the health care that will be provided by evaluating, through the functional diagnosis, all the patient’s clinical problems.