Top

BMC Primary Care

Published in:

Open Access 01-12-2016 | Research article

The supportive care needs of parents with a child with a rare disease: results of an online survey

Authors: Lemuel J. Pelentsov, Andrea L. Fielder, Thomas A. Laws, Adrian J. Esterman

Published in: BMC Primary Care | Issue 1/2016

Abstract

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 care.

Anderson M, Elliott E, Zurynski Y. Australian families living with rare disease: experiences of diagnosis, health services use and needs for psychosocial support. Orphanet J Rare Dis. 2013;8(1):22. doi:10.1186/1750-1172-8-22.CrossRefPubMedPubMedCentral

de Vrueh R. Why R&D into Rare Diseases Matter. In: Bali RK, Bos L, Gibbons MC, Ibell S, editors. Rare Diseases in the Age of Health 2.0. Communications in Medical and Care Compunetics. Heidelberg: Springer Berlin; 2014. p. 3–20.

Anderson D, Dumont S, Jacobs P, Azzaria L. The personal costs of caring for a child with a disability: a review of the literature. Public Health Rep. 2007;122(1):3–16. doi:10.1017/CBO9781139167291.003.PubMedPubMedCentral

Eurordis EOfRD. Rare diseases: understanding this public health priority. 2005. http://www.eurordis.org/IMG/pdf/princeps_document-EN.pdf. Accessed 13 April 2013.

Zurynski Y, Frith K, Leonard H, Elliott E. Rare childhood diseases: how should we respond? Arch Dis Child. 2008;93(12):1071–4. doi:10.1136/adc.2007.134940.CrossRefPubMed

Batshaw M, Groft S, Krischer J. Research into rare diseases of childhood. JAMA. 2014;311(17):1729–30. doi:10.1001/jama.2013.285873.CrossRefPubMed

Dodge J, Chigladze T, Donadieu J, Grossman Z, Ramos F, Serlicorni A, et al. The importance of rare diseases: from the gene to society. Arch Dis Child. 2011;96(9):791–2. doi:10.1136/adc.2010.193664.CrossRefPubMed

Feltmate K, Janiszewski P, Gingerich S, Cloutier M. Delayed access to treatments for rare diseases: Who's to blame? Respirology. 2015;20(3):361–9. doi:10.1111/resp.12498.CrossRefPubMed

Grewal J, Hoppe N. Don’t Forget the Orphans. Eur J Health Law. 2015;22(2):107–11. doi:10.1163/15718093-12341351.CrossRefPubMed

10.

Knight A, Senior T. The common problem of rare disease in general practice. Med J Aust. 2006;185(2):82–3.PubMed

11.

Spagnolo P, du Bois R. The Challenges of Clinical Research in Orphan Diseases. In: Cottin V, Cordier J-F, Richeldi L, editors. Orphan Lung Diseases. London: Springer; 2015. p. 5–15.

12.

Jaffe A, Zurynski Y, Beville L, Elliott E. Call for a national plan for rare diseases. J Paediatr Child Health. 2010;46(1-2):2–4. doi:10.1111/j.1440-1754.2009.01608.x.CrossRefPubMed

13.

Bower C, Rudy E, Callaghan A, Quick J, Nassar N. Age at diagnosis of birth defects. Birth Defects Res A Clin Mol Teratol. 2010;88(4):251–5. doi:10.1002/bdra.20658.PubMed

14.

Case-Smith J. Parenting a child with a chronic medical condition. Am J Occup Ther. 2004;58(5):551–60. doi:10.5014/ajot.58.5.551.CrossRefPubMed

15.

O’Connor D, Hemmings R. Coping with small populations of patients in clinical trials. Expert Opinion on Orphan Drugs. 2014;2(8):765–8. doi:10.1517/21678707.2014.931221.CrossRef

16.

Kerr L, Harrison M, Medves J, Tranmer J. Supportive care needs of parents of children with cancer: transition from diagnosis to treatment. Oncol Nurs Forum. 2004;31(6):E116–E26. doi:10.1188/04.ONF.E116-E126.CrossRefPubMed

17.

Kerr L, Harrison M, Medves J, Tranmer J, Fitch M. Understanding the supportive care needs of parents of children with cancer: an approach to local needs assessment. J Pediatr Oncol Nurs. 2007;24(5):279–93. doi:10.1177/1043454207304907.CrossRefPubMed

18.

Barlow J, Ellard D. The psychosocial well-being of children with chronic disease, their parents and siblings: an overview of the research evidence base. Child Care Health Dev. 2006;32(1):19–31. doi:10.1111/j.1365-2214.2006.00591.x.CrossRefPubMed

19.

Pelentsov L, Laws T, Esterman A. The supportive care needs of parents caring for a child with a rare disease: a scoping review. Disabil Health J. 2015. http://dx.doi.org/10.1016/j.dhjo.2015.03.009.

20.

Molster C, Youngs L, Hammond E, Dawkins H, Committee NRDC, Group NRDW. Key outcomes from stakeholder workshops at a symposium to inform the development of an Australian national plan for rare diseases. Orphanet J Rare Dis. 2012;7(1):50.CrossRefPubMedPubMedCentral

21.

Madeo A, O'Brien K, Bernhardt B, Biesecker B. Factors associated with perceived uncertainty among parents of children with undiagnosed medical conditions. Am J Med Genet A. 2012;158a(8):1877–84. doi:10.1002/ajmg.a.35425.CrossRefPubMedPubMedCentral

22.

Orphanet. List of rare diseases and synonyms. Orphanet Report Series, Rare Diseases collection. 2016. http://www.orpha.net/consor/cgi-bin/index.php. Accessed 31 March 2016.

23.

Pelentsov L, Fielder A, Esterman A. The supportive care needs of parents with a child with a rare disease: a qualitative descriptive study. J Pediatr Nurs. 2015. doi:10.1016/j.pedn.2015.10.022.PubMed

24.

Busby D, Christensen C, Crane D, Larson J. A revision of the dyadic adjustment scale for use with distressed and nondistressed couples: construct hierarchy and multidimensional scales. J Marital Fam Ther. 1995;21(3):289.CrossRef

25.

Spanier G. Assessing the strengths of the Dyadic Adjustment Scale. J Fam Psychol. 1988;2(1):92–4.CrossRef

26.

Rawlins P, Rawlins T, Horner M. Development of the family needs assessment tool. West J Nurs Res. 1990;12(2):201–14.CrossRefPubMed

27.

Schieppati A, Henter J-I, Daina E, Aperia A. Why rare diseases are an important medical and social issue. Lancet. 2008;371(9629):2039–41. doi:10.1016/S0140-6736(08)60872-7.CrossRefPubMed

28.

Graungaard A, Skov L. Why do we need a diagnosis? A qualitative study of parents’ experiences, coping and needs, when the newborn child is severely disabled. Child Care Health Dev. 2006;33(3):296–307. doi:10.1111/j.1365-2214.2006.00666.x.CrossRef

29.

Coyne I. Families and health-care professionals' perspectives and expectations of family-centred care: hidden expectations and unclear roles. Health Expect. 2013. doi:10.1111/hex.12104.

30.

Aarthun A, Akerjordet K. Parent participation in decision-making in health-care services for children: an integrative review. J Nurs Manag. 2014;22(2):177–91. doi:10.1111/j.1365-2834.2012.01457.x.CrossRefPubMed

31.

Eatough V, Santini H, Eiser C, Goller ML, Krysa W, de Nicola, et al. The personal experience of parenting a child with juvenile Huntington's disease: perceptions across Europe. Eur J Hum Genet. 2013;21(10):1042–8. doi:10.1038/ejhg.2013.15.CrossRefPubMedPubMedCentral

32.

van Scheppingen C, Lettinga A, Duipmans J, Maathuis K, Jonkman M. The main problems of parents of a child with epidermolysis bullosa. Qual Health Res. 2008;18(4):545–56. doi:10.1177/1049732308315110.CrossRefPubMed

33.

Aytch LS, Hammond R, White C. Seizures in infants and young children: an exploratory study of family experiences and needs for information and support. J Neurosci Nurs. 2001;33(5):278–85.CrossRefPubMed

34.

Coffey J. Parenting a child with chronic illness: a metasynthesis. Pediatr Nurs. 2006;32(1):51–60.PubMed

35.

Duffy L. Parental coping and childhood epilepsy: the need for future research. J Neurosci Nurs. 2011;43(1):29–35.CrossRefPubMed

36.

Skirton H, Barnoy S, Erdem Y, Ingvoldstad C, Pestoff R, Teksen F, et al. Suggested components of the curriculum for nurses and midwives to enable them to develop essential knowledge and skills in genetics. J Community Genet. 2012;3(4):323–9. doi:10.1007/s12687-012-0098-9.CrossRefPubMedPubMedCentral

37.

Benn K, McColl M. Parental coping following childhood acquired brain injury. Brain Inj. 2004;18(3):239–55. doi:10.1080/02699050310001617343.CrossRefPubMed

38.

Azar M, Badr L. Predictors of coping in parents of children with an intellectual disability: comparison between Lebanese mothers and fathers. J Pediatr Nurs. 2010;25(1):46–56. http://dx.doi.org/10.1016/j.pedn.2008.11.001.CrossRefPubMed

39.

Davis K, Drey N, Gould D. What are scoping studies? A review of the nursing literature. Int J Nurs Stud. 2009;46(10):1386–400. http://dx.doi.org/10.1016/j.ijnurstu.2009.02.010.CrossRefPubMed

40.

Shilling V, Morris C, Thompson-Coon J, Ukoumunne O, Rogers M, Logan S. Peer support for parents of children with chronic disabling conditions: a systematic review of quantitative and qualitative studies. Dev Med Child Neurol. 2013;55(7):602–9. doi:10.1111/dmcn.12091.CrossRefPubMed

41.

Mathiesen A, Frost C, Dent K, Feldkamp M. Parental needs among children with birth defects: defining a parent-to-parent support network. J Genet Counsel. 2012;21(6):862–72. doi:10.1007/s10897-012-9518-6.CrossRef

42.

Luther E, Canham D, Cureton V. Coping and social support for parents of children with autism. J Sch Nurs. 2005;21(1):40–7. doi:10.1177/10598405050210010901.CrossRefPubMed

43.

Clifford T, Minnes P. Logging on: evaluating an online support group for parents of children with autism spectrum disorders. J Autism Dev Disord. 2013;43(7):1662–75. doi:10.1007/s10803-012-1714-6.CrossRefPubMed

44.

Kirk S, Glendinning C. Developing services to support parents caring for a technology-dependent child at home. Child Care Health Dev. 2004;30(3):209–18. doi:10.1111/j.1365-2214.2004.00393.x.CrossRefPubMed

45.

Brewer H, Eatough V, Smith J, Stanley C, Glendinning N, Quarrell O. The impact of Juvenile Huntington's disease on the family: the case of a rare childhood condition. J Health Psychol. 2008;13(1):5–16. doi:10.1177/1359105307084307.CrossRefPubMed

46.

Dellve L, Samuelsson L, Tallborn A, Fasth A, Hallberg L. Stress and well-being among parents of children with rare diseases: a prospective intervention study. J Adv Nurs. 2006;53(4):392–402.CrossRefPubMed

47.

Azeem M, Dogar I, Shah S, Cheema M, Asmat A, Akbar M, et al. Anxiety and depression among parents of children with intellectual disability in Pakistan. J Can Acad Child Adolesc. 2013;22(4):290–5.

48.

van Oers H, Haverman L, Limperg P, van Dijk-Lokkart E, Maurice-Stam H, Grootenhuis M. Anxiety and depression in mothers and fathers of a chronically Ill child. Matern Child Health J. 2014;18(8):1993–2002. doi:10.1007/s10995-014-1445-8.CrossRefPubMed

49.

Arafa M, Zaher S, El-Dowaty A, Moneeb D. Quality of life among parents of children with heart disease. Health Qual Life Outcomes. 2008;6(1):1–7. doi:10.1186/1477-7525-6-91.CrossRef

50.

Griggs R, Batshaw M, Dunkle M, Gopal-Srivastava R, Kaye E, Krischer J, et al. Clinical research for rare disease: opportunities, challenges, and solutions. Mol Genet Metab. 2009;96(1):20–6. http://dx.doi.org/10.1016/j.ymgme.2008.10.003.CrossRefPubMed

51.

Smyth J, Dillman D, Christian L, O'Neill A. Using the internet to survey small towns and communities: limitations and possibilities in the early 21st century. Am Behav Sci. 2010;53(9):1423–48. doi:10.1177/0002764210361695.CrossRef

52.

Macfadyen A, Swallow V, Santacroce S, Lambert H. Involving fathers in research. J Spec Pediatr Nurs. 2011;16(3):216–9. doi:10.1111/j.1744-6155.2011.00287.x.CrossRefPubMed

Title: The supportive care needs of parents with a child with a rare disease: results of an online survey
Authors: Lemuel J. Pelentsov
Andrea L. Fielder
Thomas A. Laws
Adrian J. Esterman
Publication date: 01-12-2016
Publisher: BioMed Central
Published in: BMC Primary Care / Issue 1/2016
Electronic ISSN: 2731-4553
DOI: https://doi.org/10.1186/s12875-016-0488-x

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

The supportive care needs of parents with a child with a rare disease: results of an online survey

Abstract

Background

Methods

Results

Conclusion

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Abstract

Background

Methods

Results

Conclusion

Please log in to get access to this content

Other articles of this Issue 1/2016

The burden of cardiovascular morbidity in a European Mediterranean population with multimorbidity: a cross-sectional study

The influence of gender and other patient characteristics on health care-seeking behaviour: a QUALICOPC study

The relationship between GPs and hospital consultants and the implications for patient care: a qualitative study

The Diabetes Remission Clinical Trial (DiRECT): protocol for a cluster randomised trial

Developing physical activity counselling in primary care through participatory action approach

Comorbidities treated in primary care in children with chronic fatigue syndrome / myalgic encephalomyelitis: A nationwide registry linkage study from Norway