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

  • Maya Doyle
Original Research Article



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.


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.


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.


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.


Focus Group Primary Biliary Cirrhosis Cysteamine Adult Participant Cystinosis 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


Conflict of interest


Supplementary material

40271_2014_85_MOESM1_ESM.docx (23 kb)
Supplementary material 1 (DOCX 22 kb)


  1. 1.
    Gahl WA, Thoene JG, Schneider JA. Cystinosis. N Engl J Med. 2002;347(2):111–21. doi: 10.1056/NEJMra020552347/2/111.PubMedCrossRefGoogle Scholar
  2. 2.
    Gahl WA. Cystinosis. In: Avner E, Harmon W, Niaudet P, Yoshikawa N, editors. Pediatric nephrology. Springer: Berlin; 2009. p. 1019–38.CrossRefGoogle Scholar
  3. 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.PubMedCrossRefGoogle Scholar
  4. 4.
    Schneider JA. Approval of cysteamine for patients with cystinosis. Pediatr Nephrol. 1995;9(2):254.PubMedCrossRefGoogle Scholar
  5. 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.PubMedCrossRefGoogle Scholar
  6. 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.PubMedCentralPubMedCrossRefGoogle Scholar
  7. 7.
    Scott J. Social network analysis. Sociology. 1988;22(1):109–27. doi: 10.1177/0038038588022001007.CrossRefGoogle Scholar
  8. 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.PubMedCrossRefGoogle Scholar
  9. 9.
    Patsos M. MSJAMA: the Internet and medicine: building a community for patients with rare diseases. JAMA. 2001;285(6):805.PubMedCrossRefGoogle Scholar
  10. 10.
    Beall J. Internet resources in rare diseases. Health Care Internet. 2001;5(4):11-17. doi: 10.1300/J138v05n04_02.
  11. 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.PubMedCentralPubMedCrossRefGoogle Scholar
  12. 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.PubMedCentralPubMedCrossRefGoogle Scholar
  13. 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.PubMedCrossRefGoogle Scholar
  14. 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.PubMedCentralPubMedCrossRefGoogle Scholar
  15. 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.PubMedCrossRefGoogle Scholar
  16. 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.PubMedCrossRefGoogle Scholar
  17. 17.
    Werner-Lin A. Formal and informal support needs of young women with BRCA mutations. J Psychosoc Oncol. 2008;26(4):111–33.PubMedCrossRefGoogle Scholar
  18. 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 EdinburghGoogle Scholar
  19. 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.CrossRefGoogle Scholar
  20. 20.
    Haythornthwaite C. Social networks and Internet connectivity effects. Inform Commun Soc. 2005;8(2):125–47. doi: 10.1080/13691180500146185.CrossRefGoogle Scholar
  21. 21.
    Hotz V (2011) Cystinosis Foundation Inc. Beyond borders. RareConnect. 2011. Accessed June 2012.
  22. 22.
    Jondle J. Roller skating with rickets. USA: Jessica Jondle; 2012.Google Scholar
  23. 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. 24.
    Beall J. Internet resources in rare diseases. Health Care Internet. 2001;5(4):11–7. doi: 10.1300/J138v05n04_02.CrossRefGoogle Scholar
  25. 25.
    Arnett JJ. Emerging adulthood: the winding road from the late teens through the twenties. USA: Oxford University Press; 2004.Google Scholar
  26. 26.
    Cystinosis Research Network, Doyle M, Hammond C. Results of the living with cystinosis survey. 2011.Google Scholar
  27. 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.CrossRefGoogle Scholar
  28. 28.
    Glaser BG. Theoretical sensitivity: advances in the methodology of grounded theory. Mill Valley: Sociology; 1978.Google Scholar
  29. 29.
    Charmaz K. Constructing grounded theory: a practical guide through qualitative analysis. USA: Sage Publications Ltd; 2006.Google Scholar
  30. 30.
    Padgett D. Qualitative methods in social work research. 2nd ed. USA: Sage Publications, Inc; 2008.Google Scholar
  31. 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.PubMedCrossRefGoogle Scholar
  32. 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. 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.PubMedCrossRefGoogle Scholar
  34. 34.
    Glaser BG, Kaplan WD. Gerund grounded theory: the basic social process dissertation. Mill Valley: Sociology; 1996.Google Scholar
  35. 35.
    Padgett DK. Qualitative and mixed methods in social work knowledge development. Social Work. 2009;54(2):101–5.PubMedCrossRefGoogle Scholar
  36. 36.
    Anastas JW. Quality in qualitative evaluation: issues and possible answers. Res Soc Work Pract. 2004;14(1):57–65.CrossRefGoogle Scholar
  37. 37.
    Glaser BG. Getting out of the data: grounded theory conceptualisation. Mill Valley: Sociology; 2011.Google Scholar
  38. 38.
    Saldaña J. The coding manual for qualitative researchers. 2nd ed. USA: Sage; 2013.Google Scholar
  39. 39.
    Shal P. CRN education and awareness update. The Cystinosis Advocate; 2012. p. 16–7.Google Scholar
  40. 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.
  41. 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.PubMedCrossRefGoogle Scholar
  42. 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.PubMedCrossRefGoogle Scholar
  43. 43.
    James SD. Cystinosis kids are living time bombs without meds. ABCNews: Good Morning America; 2012.Google Scholar
  44. 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.PubMedCentralPubMedCrossRefGoogle Scholar
  45. 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.Google Scholar
  46. 46.
    Tanis M. Online social support groups. The Oxford handbook of internet psychology. 2007;139.Google Scholar
  47. 47.
    Goffman E. Stigma: notes on the management of spoiled identity. Englewood Cliffs: Prentice-Hall; 1963.Google Scholar
  48. 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.Google Scholar
  49. 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. 50.
    Holton JA. Rehumanising knowledge work through fluctuating support networks: a grounded theory. Grounded Theory Rev Int J. 2007;6(2).
  51. 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.PubMedCrossRefGoogle Scholar
  52. 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.Google Scholar
  53. 53.
    Smith KP, Christakis NA. Social networks and health. Annu Rev Sociol. 2008;34:405–29.CrossRefGoogle Scholar

Copyright information

© Springer International Publishing Switzerland 2014

Authors and Affiliations

  1. 1.Quinnipiac University School of Social WorkNorth HavenUSA
  2. 2.Division of Pediatric NephrologyChildren’s Hospital at MontefioreBronxUSA

Personalised recommendations