Rare Diseases & Rehabilitation After Pharmacological Treatments

If for each individual pathology the number of patients is limited, the world of rare diseases represents a large and complex universe. There are an estimated 7,000 to 8,000 different conditions, many of which affect the central and peripheral nervous system. In this context, neurology is one of the most involved areas, in particular for neuromuscular forms, which are often progressive and have a significant impact on the quality of life. At the Quarenghi Clinical Institute, the care and rehabilitation of people with rare diseases constitute an increasingly structured area of intervention. The Lombardy Region’s inclusion in the network of reference rehabilitation centers for rare diseases consolidates a specialization path aimed at taking charge of complex clinical pictures. «Regional recognition enhances work built over time, based on the ability to follow patients with complex needs and structured care paths, supported by specialist skills, dedicated technologies and continuity of care», he underlines the health director Alberto Angelini.

«According to data from the Istituto Superiore di Sanità, rare diseases constitute an extremely heterogeneous group of pathologies: they are estimated at between 7,000 and 8,000 and affect no more than 5 people per 10,000 inhabitants in the European Union. Approximately 80% of cases are of genetic origin, while the remaining 20% include acquired forms, of an inflammatory or other origin. Today, effective pharmacological therapies are available for some acquired pathologies. However, the drug alone is not enough: it is necessary to stop the pathological process, but also to recover and maintain motor function. For this reason, after the acute phase and pharmacological treatment in acute care centers, patients are started on a rehabilitation process, which also allows for monitoring over time.”

«In particular, diseases of the central and peripheral nervous system such as spinocerebellar diseases, spinal muscular atrophies, amyotrophic lateral sclerosis and primary lateral sclerosis are treated. Also included are hereditary neuropathies, chronic inflammatory demyelinating polyneuropathy, multifocal motor neuropathy and Lewis-Sumner syndrome. The treatment path also includes patients suffering from POEMS syndrome, muscular dystrophies, congenital and dysimmune myasthenic syndromes and Eaton-Lambert syndrome.”

«In all stages of life, rehabilitation is essential to contain the increase in disability. When pharmacological therapy exists, the objective is to stabilize the pathology or counteract its clinical worsening. It has been shown that intensive rehabilitation, with more than one session per day, often allows one or more functional “steps” to be recovered, bringing the patient back, at the end of hospitalization, to levels similar to those of the previous year. In cases where pharmacological therapy is available, rehabilitation enhances its effectiveness.”

«In recent years, thanks to the coordination of a figure with decades of experience such as Doctor Marina Scalato, truly personalized paths have been developed, built by the team taking into account not only the clinical condition, but also the patient’s expectations and the possibilities of recovery. Interventions may include, when indicated, water therapy, the use of robotic systems and customized orthotic devices.”

«The objective is to take global care of the person, which is why the approach is multidisciplinary. The team involves a motor physiotherapist, respiratory physiotherapist, speech therapist, occupational therapist, dietician, neuropsychologist and psychologist. The skills are integrated to respond not only to motor needs, but also to respiratory, nutritional, communicative, cognitive and psychological needs.”

In the case of rare diseases it is particularly difficult to define standard timescales. Evidence indicates, however, that inpatient treatment is more effective than outpatient physiotherapy alone. The program is intensive and continuous and staying in the facility allows for in-depth knowledge of the patient, an essential condition for truly personalizing the treatment. Continuity after discharge is also fundamental: the patient must continue with the outpatient program and maintain an adequate level of physical activity to counteract the progression of the disease.

«The rare pathology does not only concern the patient, but involves the entire family unit. Rehabilitation hospitalization often represents a relief also for caregivers, who can benefit from a period of support and recovery. Furthermore, many patients tend towards isolation and social withdrawal. In a rehabilitation context, comparison with people who live similar experiences promotes socialization and improves psychological well-being, with positive effects also on family members, helping them to experience the illness in a less isolating way.”