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) |