Rare diseases in children—Knowledge, experiences and challenges faced by pediatricians in Tanzania

Abstract

Diagnosing and treating rare diseases in children is a major challenge for pediatricians globally. There is a lack of adequate knowledge of these conditions and diagnostic testing is not easily accessible, which frequently results in delays in care. The knowledge, experiences and challenges faced by pediatricians in Tanzania are not known. This study used a nationwide cross-sectional online survey to describe the knowledge of pediatricians in Tanzania on rare diseases, their experiences, and the challenges they face in treating these children. The survey tool was shared on the Pediatric Association of Tanzania WhatsApp group where most pediatricians are registered. 168 pediatricians completed the survey, giving a response rate of 52%. All of them had encountered a child with a presumed rare disease in their career, with 60% having seen one in the 6 months preceding the survey. The commonest presumed rare condition encountered was genetic/metabolic, and the most common difficulty (97%) encountered was lack of access to diagnostic testing. A third of respondents reported that rare diseases were taught in university and 60% felt unprepared to look after these children. Three quarter of respondents could not access to experts to advise them on management. Presumed rare diseases are commonly encountered by pediatricians in Tanzania, and there are challenges in diagnostic testing, gaps in training, lack of confidence in providing care and inability to access experts on rare disease management. To improve care of children with rare diseases, diagnostic testing should be made available, accessible and affordable. A review of medical training curricula should be done to incorporate rare disease education and skill development. Platforms and pathways to connect pediatricians with regional and global experts should be put in place to provide timely and appropriate care to children with rare diseases.