Australian children living with rare diseases: health service use and barriers to accessing care

Abstract

Background Children with rare diseases experience challenges at home and school and frequently require multi-disciplinary healthcare. We aimed to determine health service utilization by Australian children with rare diseases and barriers to accessing healthcare. Methods Parents completed an online survey on health professional and emergency department (ED) presentations, hospitalization, and barriers to accessing services. Potential barriers to service access included residential location (city, regional, remote) and child health-related functioning, determined using a validated, parent-completed measure-of-function tool. Results Parents of 462 children with over 240 rare diseases completed the survey. Compared with the general population, these children were more likely to be hospitalized [odds ratio (OR) = 17.25, 95% confidence interval (CI) = 15.50–19.20] and present to the ED (OR = 4.15, 95% CI = 3.68–4.68) or a family physician (OR = 4.14, 95% CI = 3.72–4.60). Child functional impairment was nil/mild (31%), moderate (48%) or severe (22%). Compared to children with nil/mild impairment, those with severe impairment were more likely to be hospitalized (OR = 13.39, 95% CI = 7.65–23.44) and present to the ED (OR = 11.16, 95% CI = 6.46–19.27). Most children (75%) lived in major cities, but children from regional (OR = 2.78, 95% CI = 1.72–4.55) and remote areas (OR = 9.09, 95% CI = 3.03–25.00) experienced significantly more barriers to healthcare access than children from major cities. Barriers included distance to travel, out-of-pocket costs, and lack of specialist medical and other health services. Conclusions Children with rare diseases, especially those with severe functional impairment have an enormous impact on health services, and better integrated multidisciplinary services with patient-centered care are needed. Access must be improved for children living in rural and remote settings. Supplementary Information The online version contains supplementary material available at 10.1007/s12519-022-00675-6.

Caring for Children with Dravet Syndrome: Exploring the Daily Challenges of Family Caregivers

“…Many also feel that their physical, mental and social health is often overlooked in clinical research [ 11 , 29 ]. Similarly, caregivers of children with such neurological disorders as autism, 22q11DS, Willimas syndrome or Huntington disease complain of insufficient empathy from healthcare professionals and feel forgotten by the healthcare system [ 34 , 35 , 43 , 44 , 45 , 49 , 55 , 56 ].…”

“…This, however, should come as no surprise, as previous Polish studies have demonstrated a lack of knowledge and experience from healthcare practitioners, including doctors and nurses regarding rare disease [ 61 , 62 , 63 ]. At the same time, in some cases caregivers of children with other neurological disorders report even more problems with the diagnostic and therapeutic odyssey and the ignorance of doctors and other health professionals [ 55 , 56 , 64 , 65 ].…”

Improving knowledge of rare disorders since 1993: the Australian Paediatric Surveillance Unit

“…Although collectively ‘common’, rare disorders often fall through the cracks 2. Most children require long-term multidisciplinary care, however parents report delays in diagnosis, high out-of-pocket expenses and difficulty accessing specialised services 3–5. The Australian Paediatric Surveillance Unit (APSU) was established by Professor Elizabeth Elliott to facilitate study of rare childhood disorders, address the paucity of national data to inform policy and practice, and improve the health and well-being of Australian children.…”

“…To complement surveillance data, the APSU uses other approaches to study rare disorders including retrospective hospital audits (eg, microcephaly,13 table 2), one-off contributor surveys (eg, female genital mutilation (FGM),14 table 6); paediatrician experience with sudden unexpected death in infancy (SUDI),15 table 5), systematic reviews (eg, trampoline park injuries,16 table 6), and studies on the impacts of rare disorders on families and paediatricians 3–5 17. The APSU has twice been evaluated 18 19.…”

“…APSU was an early adaptor patient and family co-design in research and advocacy and regularly engages with parent support groups, Non-Government Organisations (NGOs) and philanthropic groups to mark International Rare Diseases Day and advocate for a national plan and clinical services;2 to review applications for emergency funding to children with rare disorders (eg, Steve Waugh Foundation, Smile Foundation); to develop registers relating to diseases under surveillance (eg, the Rett Syndrome Foundation for the InterRett global registry and the National Organisation for Fetal Alcohol Spectrum Disorder Australia for the FASD Australian Registry); and to provide information and education to families and health professionals (eg, NO Female Genital Mutilation Australia and the Australian Human Rights Commission). APSU partnered with the Steve Waugh Foundation, SMILE Foundation and Genetic Alliance Australia, to provide unique data on the impacts of rare disorders on family function, child health-related function, siblings, family finances, health services and paediatricians 3–5 17…”