Table 3.

Difficulties encountered by paediatricians while caring for children with rare diseases

Areas of difficulty	n=238(%)
Delay in, or inability to make a definitive diagnosis	155 (65)
Lack of available treatments	94 (40)
Lack of treatment/management guidelines	86 (36)
Lack of diagnostic guidelines	83 (35)
Uncertainty about available peer support groups for the patient and family	82 (35)
Lack of access to diagnostic tests	73 (31)
Difficulties in accessing specialised clinics/services	68 (29)
Difficulties in accessing genetic testing/services	65 (27)
Difficulties in accessing allied health services	62 (26)
Uncertainty about where to refer to	49 (21)
Difficulty accessing new drugs or therapies currently available overseas, not yet licensed in Australia	46 (19)
Other difficulties	14 (6)