Necesidades en las enfermedades raras durante la edad pediátrica

Abstract

All rare diseases present a common set of challenges to the sufferers and their families: diagnosis, dealing with symptoms, health information, obtaining helpful medical care, availability of medications, disability and emotional impact. Children with rare disorders are an important population from health care services, and social services perspectives, and families are providing long-term care for these chronically ill children. The impact of rare disorders in children is far-reaching, extending beyond the child to all those with whom he/she has contact. Multiple facets of life are affected including social an family relationships, economical well-being and activities of daily living. The assessment of needs for rare disorders treatment is a critical step in providing high quality care and achieving patients' and families' satisfaction. Findings from different studies show that people with rare diseases have medical and social needs. Social needs are becoming more relevant in developed countries where health care services, even with limitations, have greater availability than social services. Furthermore, it seems that health care and social services for persons with rare diseases need to be improved to address the patients' needs and to provide better support to families. Validated tools with good psychometric properties are still needed to assess quality of care on the basis of patients and family needs.