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Peer Support and Mentorship in a US Rare Disease Community: Findings from the Cystinosis in Emerging Adulthood Study

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Abstract

Purpose

Medical advances have transformed the rare disease cystinosis from fatal in childhood to chronic and manageable into adulthood. Disease-specific advocacy groups and interaction via the Internet create opportunities for peer support, part of the changing experience and outcomes of the illness.

Methods

This study utilized a qualitative grounded theory approach to explore the experience of emerging adults and adults with cystinosis, and their parents. Individuals (n = 49) from 21 families were recruited online and in person for focus groups and/or individual interviews.

Results

Individuals participate in the disease community through comfortability, comparing notes, witnessing/scaling, modeling/mentoring, and going/being public. Participants valued connection to others who shared their diagnosis, and seek to provide support and mentorship to younger patients and their families. Adults with cystinosis perceived themselves as role models but also as examples of potential progression and disability. Going/being public about one’s health condition carried emotional and social risks.

Implications

Individuals and families benefit from peer support and mentorship from others who share their illness experience. Participation in the disease community helps individuals (and caregivers) negotiate living with illness and the transition to adulthood. Further research regarding these processes within other disease communities is needed.

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References

  1. Gahl WA, Thoene JG, Schneider JA. Cystinosis. N Engl J Med. 2002;347(2):111–21. doi:10.1056/NEJMra020552347/2/111.

    Article  PubMed  Google Scholar 

  2. Gahl WA. Cystinosis. In: Avner E, Harmon W, Niaudet P, Yoshikawa N, editors. Pediatric nephrology. Springer: Berlin; 2009. p. 1019–38.

    Chapter  Google Scholar 

  3. Kleta R, Bernardini I, Ueda M, Varade WS, Phornphutkul C, Krasnewich D, et al. Long-term follow-up of well-treated nephropathic cystinosis patients. J Pediatr. 2004;145(4):555–60. doi:10.1016/j.jpeds.2004.03.056.

    Article  PubMed  Google Scholar 

  4. Schneider JA. Approval of cysteamine for patients with cystinosis. Pediatr Nephrol. 1995;9(2):254.

    Article  CAS  PubMed  Google Scholar 

  5. Nesterova G, Gahl WA. Nephropathic cystinosis: late complications of a multisystemic disease. Pediatr Nephrol. 2008;23(6):863–78. doi:10.1007/s00467-007-0650-8.

    Article  PubMed  Google Scholar 

  6. Nesterova G, Gahl WA. Cystinosis: the evolution of a treatable disease. Pediatr Nephrol. 2013;28(1):51–9. doi:10.1007/s00467-012-2242-5.

    Article  PubMed Central  PubMed  Google Scholar 

  7. Scott J. Social network analysis. Sociology. 1988;22(1):109–27. doi:10.1177/0038038588022001007.

    Article  Google Scholar 

  8. Cohen SD, Sharma T, Acquaviva K, Peterson RA, Patel SS, Kimmel PL. Social support and chronic kidney disease: an update. Adv Chronic Kidney Dis. 2007;14(4):335–44. doi:10.1053/j.ackd.2007.04.007.

    Article  PubMed  Google Scholar 

  9. Patsos M. MSJAMA: the Internet and medicine: building a community for patients with rare diseases. JAMA. 2001;285(6):805.

    Article  CAS  PubMed  Google Scholar 

  10. Beall J. Internet resources in rare diseases. Health Care Internet. 2001;5(4):11-17. doi:10.1300/J138v05n04_02.

  11. Greene JA, Choudhry NK, Kilabuk E, Shrank WH. Online social networking by patients with diabetes: a qualitative evaluation of communication with Facebook. J Gen Intern Med. 2011;26(3):287–92.

    Article  PubMed Central  PubMed  Google Scholar 

  12. Im EO, Chee W, Tsai HM, Lin LC, Cheng CY. Internet cancer support groups: a feminist analysis. Cancer Nurs. 2005;28(1):1–7.

    Article  PubMed Central  PubMed  Google Scholar 

  13. Elwell L, Grogan S, Coulson N. Adolescents living with cancer the role of computer-mediated support groups. J Health Psychol. 2011;16(2):236–48.

    Article  PubMed  Google Scholar 

  14. Lasker JN, Sogolow ED, Sharim RR. The role of an online community for people with a rare disease: content analysis of messages posted on a primary biliary cirrhosis mailinglist. J Med Internet Res. 2005;7(1):e10. doi:10.2196/jmir.7.1.e10.

    Article  PubMed Central  PubMed  Google Scholar 

  15. Mo PK, Coulson NS. Developing a model for online support group use, empowering processes and psychosocial outcomes for individuals living with HIV/AIDS. Psychol Health. 2012;27(4):445–59.

    Article  PubMed  Google Scholar 

  16. Coulson NS, Buchanan H, Aubeeluck A. Social support in cyberspace: a content analysis of communication within a Huntington’s disease online support group. Patient Educ Couns. 2007;68(2):173–8. doi:10.1016/j.pec.2007.06.002.

    Article  PubMed  Google Scholar 

  17. Werner-Lin A. Formal and informal support needs of young women with BRCA mutations. J Psychosoc Oncol. 2008;26(4):111–33.

    Article  PubMed  Google Scholar 

  18. Platten MJ (2012) Mental health, self-esteem and quality of life of adults with cystic fibrosis and their use of an online discussion forum. Dissertation, University of Edinburgh

  19. Barak A, Boniel-Nissim M, Suler J. Fostering empowerment in online support groups. Comput Human Behav. 2008;24(5):1867–83. doi:10.1016/j.chb.2008.02.004.

    Article  Google Scholar 

  20. Haythornthwaite C. Social networks and Internet connectivity effects. Inform Commun Soc. 2005;8(2):125–47. doi:10.1080/13691180500146185.

    Article  Google Scholar 

  21. Hotz V (2011) Cystinosis Foundation Inc. Beyond borders. RareConnect. 2011. http://www.rareconnect.org/en/community/zystinose/article/cystinosis-foundation-inc-beyond-borders. Accessed June 2012.

  22. Jondle J. Roller skating with rickets. USA: Jessica Jondle; 2012.

    Google Scholar 

  23. Krammer M. The National Organization for Rare Disorders and the experiences of the rare disorder community. Danbury: National Organization for Rare Disorders; 2003.

    Google Scholar 

  24. Beall J. Internet resources in rare diseases. Health Care Internet. 2001;5(4):11–7. doi:10.1300/J138v05n04_02.

    Article  Google Scholar 

  25. Arnett JJ. Emerging adulthood: the winding road from the late teens through the twenties. USA: Oxford University Press; 2004.

    Google Scholar 

  26. Cystinosis Research Network, Doyle M, Hammond C. Results of the living with cystinosis survey. 2011.

  27. Spilkin A, Ballantyne A. Behavior in children with a chronic illness: a descriptive study of child characteristics, family adjustment, and school issues in children with cystinosis. Fam Syst Health. 2007;25(1):68–84.

    Article  Google Scholar 

  28. Glaser BG. Theoretical sensitivity: advances in the methodology of grounded theory. Mill Valley: Sociology; 1978.

    Google Scholar 

  29. Charmaz K. Constructing grounded theory: a practical guide through qualitative analysis. USA: Sage Publications Ltd; 2006.

    Google Scholar 

  30. Padgett D. Qualitative methods in social work research. 2nd ed. USA: Sage Publications, Inc; 2008.

    Google Scholar 

  31. Arnett JJ. Emerging adulthood—a theory of development from the late teens through the twenties. Am Psychol. 2000;55(5):469–80. doi:10.1037//0003-066x.55.5.469.

    Article  CAS  PubMed  Google Scholar 

  32. American Academy of Pediatrics, American Academy of Family Physicians, American College of Physicians, American Society of Internal Medicine. A consensus statement on health care transitions for young adults with special health care needs. Pediatrics. 2002;110(6):1304–6.

    Google Scholar 

  33. American Academy of Pediatrics, American Academy of Family Physicians, American College of P, Transitions Clinical Report Authoring Group, Cooley WC, Sagerman PJ. Supporting the health care transition from adolescence to adulthood in the medical home. Pediatrics. 2011;128(1):182–200. doi:10.1542/peds.2011-0969.

    Article  PubMed  Google Scholar 

  34. Glaser BG, Kaplan WD. Gerund grounded theory: the basic social process dissertation. Mill Valley: Sociology; 1996.

    Google Scholar 

  35. Padgett DK. Qualitative and mixed methods in social work knowledge development. Social Work. 2009;54(2):101–5.

    Article  PubMed  Google Scholar 

  36. Anastas JW. Quality in qualitative evaluation: issues and possible answers. Res Soc Work Pract. 2004;14(1):57–65.

    Article  Google Scholar 

  37. Glaser BG. Getting out of the data: grounded theory conceptualisation. Mill Valley: Sociology; 2011.

    Google Scholar 

  38. Saldaña J. The coding manual for qualitative researchers. 2nd ed. USA: Sage; 2013.

    Google Scholar 

  39. Shal P. CRN education and awareness update. The Cystinosis Advocate; 2012. p. 16–7.

  40. Access To Credible Genetics Resource Network, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Genetic Alliance. Trust it or trash it? 2012. http://www.trustortrash.org/.

  41. Gahl WA, Balog JZ, Kleta R. Nephropathic cystinosis in adults: natural history and effects of oral cysteamine therapy. Ann Intern Med. 2007;147(4):242–50.

    Article  PubMed  Google Scholar 

  42. Brodin-Sartorius A, Tete MJ, Niaudet P, Antignac C, Guest G, Ottolenghi C, et al. Cysteamine therapy delays the progression of nephropathic cystinosis in late adolescents and adults. Kidney Int. 2012;81(2):179–89. doi:10.1038/ki.2011.277.

    Article  CAS  PubMed  Google Scholar 

  43. James SD. Cystinosis kids are living time bombs without meds. ABCNews: Good Morning America; 2012.

    Google Scholar 

  44. Costa FF, Foly LS, Coutinho MP. DataGenno: building a new tool to bridge molecular and clinical genetics. Appl Clin Genet. 2011;4:45–54.

    Article  PubMed Central  PubMed  Google Scholar 

  45. Newman ED. Managing medical information (tools, rules, and what’s cool). In: Harrington J, Newman ED (eds). Great Health Care: Making it Happen. Springer, New York, 2012:65–72.

  46. Tanis M. Online social support groups. The Oxford handbook of internet psychology. 2007;139.

  47. Goffman E. Stigma: notes on the management of spoiled identity. Englewood Cliffs: Prentice-Hall; 1963.

    Google Scholar 

  48. Daw J, Margolis R, Verdery AM. Siblings, friends, course-mates, club-mates: how adolescent health behavior homophily varies by race, class, gender, and health status. Soc Sci Med. Epub 2014 Mar 12.

  49. Lazarsfeld PF, Merton RK. Friendship as a social process: a substantive and methodological analysis. Freedom Control Mod Soc. 1954;18(1):18–66.

    Google Scholar 

  50. Holton JA. Rehumanising knowledge work through fluctuating support networks: a grounded theory. Grounded Theory Rev Int J. 2007;6(2). http://groundedtheoryreview.com/2007/03/30/1162/.

  51. Vaisbich MH, Koch VH. Report of a Brazilian multicenter study on nephropathic cystinosis. Nephron Clin Pract. 2010;114(1):c12–8. doi:10.1159/000245065.

    Article  PubMed  Google Scholar 

  52. Tsigin AN, Kagan MY, Kartamysheva NN, Karagulian NA, Levchenko EN. Nephropathic cystinosis: an underestimated problem in pediatric nephrology. Clin Nephrol. 2011;4:20–3.

  53. Smith KP, Christakis NA. Social networks and health. Annu Rev Sociol. 2008;34:405–29.

    Article  Google Scholar 

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Authors and Affiliations

  1. Quinnipiac University School of Social Work, North Haven, CT, USA

    Maya Doyle

  2. Division of Pediatric Nephrology, Children’s Hospital at Montefiore, Bronx, NY, USA

    Maya Doyle

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  1. Maya Doyle
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Correspondence to Maya Doyle.

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Doyle, M. Peer Support and Mentorship in a US Rare Disease Community: Findings from the Cystinosis in Emerging Adulthood Study. Patient 8, 65–73 (2015). https://doi.org/10.1007/s40271-014-0085-9

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