Gewone zorg voor de ongewone patiënt: Zeldzame aandoeningen in de huisartsenpraktijk

Purpose: To describe health problems and quality of life experienced by people with uncommon chronic diseases, how they are treated by their GP and what are their expectations. Methods: In a nationwide representative sample of non-institutionalised chronic disease patients (recruited in 56 general practices) in the Netherlands, 206 patients with rare chronic diseases were traced and compared to 2,303 patients with more prevalent chronic diseases. Results: Results showed that many people with rare diseases experienced very bad quality of life. Sexual problems, mental problems, anxiety and worries about the disease were common. They were generally satisfied with the care delivered by their GPs and they felt that they were taken seriously. However, a relatively large proportion of the rare disease group found their GPs not specifically qualified to treat their disease. Discussion: Curative treatment is often unavailable for people with rare chronic diseases. However care needs in daily life are not so different (though sometimes more problematic) from those of people with more prevalent chronic diseases. The GP should therefore not give up his role as caretaker or as co-ordinator of care. If the patient needs some specific expertise, then the GP should refer them to specialised physical or psychological care