Table 3

Difficulties encountered by paediatricians while caring for children with rare diseases

Areas of difficultyn=238(%)
Delay in, or inability to make a definitive diagnosis155 (65)
Lack of available treatments94 (40)
Lack of treatment/management guidelines86 (36)
Lack of diagnostic guidelines83 (35)
Uncertainty about available peer support groups for the patient and family82 (35)
Lack of access to diagnostic tests73 (31)
Difficulties in accessing specialised clinics/services68 (29)
Difficulties in accessing genetic testing/services65 (27)
Difficulties in accessing allied health services62 (26)
Uncertainty about where to refer to49 (21)
Difficulty accessing new drugs or therapies currently available overseas, not yet licensed in Australia46 (19)
Other difficulties14 (6)