Abstract
BackgroundPoland Syndrome (PS) is a rare congenital malformation involving functional and aesthetic impairments. Early diagnosis and timely therapeutic approaches play an important role in improving the quality of life of patients and kindred. This study aims to explore healthcare experiences of the diagnosis of patients affected by PS and to investigate the factors associated with diagnostic delay in Italy.ResultsSeventy-two patients affected by PS were asked to fill in a self- administered questionnaire on: a) diagnostic path; b) perceived quality of care received after diagnosis; c) knowledge of the rights and the socio-economic hardships related to their disease; d) evaluation of the integration of various professional skills involved in the diagnostic and therapeutic approach; e) perception of the social support provided by the Italian Association of Poland Syndrome (AISP). The average age at diagnosis was around 14 years; diagnosis was made at birth in only 31.58% of cases. Although typical symptomatology had appeared on average at an early age (4 months), only 23 patients (40.35%) received an early diagnosis (within the first year of life). Just over half of the patients (n = 30) were diagnosed in their region of origin, while 27 were diagnosed elsewhere. Furthermore, 12.28% were self-diagnoses. Among the patients who were diagnosed outside their region, 15 (88.24%) stated they had foregone some visits or treatments owing to costs and/or organizational issues.ConclusionsAn analysis of the patients’ experiences highlights several gaps and a lack of homogeneity in the diagnostic and therapeutic follow-up of PS patients in Italy. A specific national diagnostic and therapeutic path is essential to guarantee patients complete and appropriate health services, compliant with the ethical principles of non-discrimination, justice and empathy. Implementation of an effective information and research network and empowerment of patients’ associations are necessary conditions to encourage clinical collaboration and improve the quality of life of people living with rare diseases.
Highlights
Poland Syndrome (PS) is a rare congenital malformation involving functional and aesthetic impairments
The study involved 72 PS patients from various Italian regions, who underwent examination during two national meetings focused on patients affected by PS, which were held in Genova in 2016
The study involved 72 PS patients or caregivers who were asked to fill in a questionnaire, 57 (23 adults, 34 minors) of whom provided enough information to warrant evaluation
Summary
Poland Syndrome (PS) is a rare congenital malformation involving functional and aesthetic impairments. Diagnosis and timely therapeutic approaches play an important role in improving the quality of life of patients and kindred. Despite the greater access to comprehensive genetic testing, patients with PS, as individuals with only suspected genetic condition, often undertake the “diagnostic odyssey” characterized by years of clinical, radiological, genetic and laboratory testing. During their diagnostic odyssey, emotional distress and frustration in parents and adult patients have been observed [8,9,10,11]. Patients affected by PS, for example, need to correct hand deformities [14] during childhood to reduce functional impairment. Severe chest/breast asymmetries [2] need to be addressed during adolescence to avoid negative body perception which may lead to permanent insecurities and the development of body-image disorders [15]
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