چکیده (انگلیسی):

Background:Parents caring for a child affected by a rare disease have unmet needs, the origins of which are
complex and varied. Our aim was to determine the supportive care needs of parents caring for a child with a rare
disease.
Methods:An online survey was developed consisting of 45 questions (108 items) and separated into six domains.
The survey included questions about perceived level of satisfaction with receiving care, experiences and needs of
providing daily care, the impacts of disease on relationships, the emotional and psychological burdens of disease,
and parents overall satisfaction with the support received.
Results:Three-hundred and one parents from Australia and New Zealand completed the survey; 91 % (n= 275/
301) were mothers, with 132 distinct rare diseases being reported. Fifty-four percent (n= 140/259) of parents were
dissatisfied with health professionals’ level of knowledge and awareness of disease; 71 % (n= 130/183) of parents
felt they received less support compared to other parents. Information regarding present (60 %, n= 146/240) and
future services (72 %, n= 174/240) available for their child were considered important. Almost half of parents (45 %,
n= 106/236) struggled financially, 38 % (n= 99/236) reduced their working hours and 34 % (n= 79/236) ceased
paid employment. Forty-two percent (n= 99/223) of parents had no access to a disease specific support group, and
58 % (n= 134/230) stated that their number of friends had reduced since the birth of their child; 75 % (n= 173/230)
had no contact with other parents with a child with a similar disease, and 46 % (n= 106/230) reported feeling
socially isolated and desperately lonely. Most frequent emotions expressed by parents in the week prior to
completing the survey were anxiety and fear (53 %,n= 119/223), anger and frustration (46 %,n= 103/223) and
uncertainty (39 %,n= 88/223).
Conclusion:This study is the first to develop an online survey specifically for use with parents to investigate their
supportive care needs across a large and diverse group of rare diseases. The findings highlight that parents with a
child with a rare disease have common unmet needs regardless of what disease their child has. Such information
may allow health providers to improve child outcomes through improving parental supportive Keywords:Parents, Rare diseases, Supportive care, Disease burden, Health providers, Needs assessment, Online survey