Clicca qui per scaricare

Le malattie rare: informazione e comunicazione nel patient journey
Autori/Curatori: Michaela Liuccio 
Anno di pubblicazione:  2018 Fascicolo: 55  Lingua: Italiano 
Numero pagine:  18 P. 30-47 Dimensione file:  239 KB
DOI:  10.3280/SC2018-055003
Il DOI è il codice a barre della proprietà intellettuale: per saperne di più:  clicca qui   qui 

Rare diseases are incurable genetic conditions that have a particularly low oc-curence. Patients with rare disease often experience significant obstacles to access to high quality healthcare. The analysis of literature emphasizes that it is important to promote studies on the social implications of rare diseases. This research project aims to identify the needs of patients with rare diseases for: 1) the knowledge they acquire through the media; 2) the relationship with the doctor and the hospital; 3) the relationship with the social networks. These three factors have been analyzed through the three most important steps of the patient journey: a) the pre-diagnosis stage; B) the stage of diagnosis; C) the post-diagnosis stage. The research was carried out on a sample of 17 participants, including 11 patients and 6 family members of patients, selected on a voluntary basis through the Rare Disease Desk of the Polyclinic Umberto I in Rome, and involving patients’ associations. What emerges from this research is that the patients with rare diseases have a double patient journey: a journey before diagnosis and a post-diagnosis journey. In the first one the family has the main role, in the second one the main role is of doctor and social networks.
Keywords: Rare diseases, patients, information, communication

  1. Dutta-Bergeman M.J. (2004), The Impact of Completeness and Web Use Motivation on the Credibility of e-Health Information, in «the Journal of Communication», 54 (2): 253-269,
  2. Agarwal AK, Murinson BB. (2012), New dimensions in patient-physician interaction: values, autonomy, and medical information in the patient-centered clinical encounter, «Rambam Maimonides Medical Journal», 3(3),
  3. Albanesi C. (2004), I focus group, Carocci, Roma.
  4. AlGhamdi K.M., Moussa A.A. (2012), Internet use by the public to search for health-related information, in «International Journal of Medical Informatics», 8 (1): 363-373.
  5. Anderson M., Elliott E.J., Zurynski Y.A. (2013), Australian families living with rare disease: experiences of diagnosis, health services use and needs for psychosocial support, in «Orphanet Journal of Rare Diseases», 8(1):22,, DOI: 10.1186/1750-1172-8-22
  6. Andersen K.M., Medaglia R., Henriksen H.Z. (2012), Social media in public health care: Impact domain propositions, in «Government Information Quarterly», 29 (4): 462-469,
  7. Ardigo A. (1997), Società e salute. Lineamenti di sociologia sanitaria, FrancoAngeli, Milano.
  8. Augè M., Herzlich C. (a cura di) (1986), Il senso del male. Antropologia, storia e sociologia della malattia, Il Saggiatore, Milano.
  9. Carpenter D.M., DeVellis R.F., Hogan S.L., Fisher E.B., DeVellis B.M., Jordan J.M. (2011), Use and perceived credibility of medication information sources for patients with a rare illness: differences by gender, in «Journal of Health Communication» 16(6):629-42,, DOI: 10.1080/10810730.2011.551995
  10. Doyle M. (2015), Peer Support and Mentorship in a US Rare Disease Community: Findings from the Cystinosis in Emerging Adulthood Study, in «Patient», 8 (1): 65-73,
  11. Du Pré A. (2014), Communicating about health: current issues and perspectives, Oxford University Press, Oxford.
  12. Dwyer A.A., Quinton R., Morin D., Pitteloud N. (2014), Identifying the unmet health needs of patients with congenital hypogonadotropic hypogonadism using a web-based needs assessment: implications for online interventions and peer-to-peer support, in Orphanet Journal of Rare Diseases», 9:83,, DOI: 10.1186/1750-1172-9-83
  13. Frisina A. (2010), Focus group, il Mulino, Bologna.
  14. Griffith G.M., Hastings R.P., Nash S., Petalas M., Oliver C., Howlin P., Moss J., Petty J., Tunnicliffe P. (2011), You have to sit and explain it all, and explain yourself. Mothers’ experiences of support services for their offspring with a rare genetic intellectual disability syndrome, in «Journal of Genetic Counseling», 20(2):165-77,
  15. Groft S.C., de la Paz M.P. (2010), Rare diseases. Avoiding misperceptions and establishing realities: the need for reliable epidemiological data, in «Advances in Experimental Medicine and Biology», 686:3-1 , ISSN: 0065-2598.
  16. Hannawa A.F., Garcia-Jiménez L., Candrian C., Rossmann C., Schulz P.J. (2015), Identifying the Field of Health Communication, in «Journal of Health Communication: International Perspectives», 20(5):1-10,, DOI: 10.1080/10810730.2014.999891
  17. Hesselgrave B.L. (2003), Helping to manage the high cost of rare diseases, «Managed Care Quarterly»,11(1):1-6.
  18. Hilton-Kamm D., Sklansky M., Chang R.K. (2014), How not to tell parents about their child’s new diagnosis of congenital heart disease: an Internet survey of 841 parents, in «Pediatric Cardiology», 35(2):239-52,
  19. Hilton-Kamm D., Chang R.K., Sklansky M. (2012), Prenatal diagnosis of hypoplastic left heart syndrome: impact of counseling patterns on parental perceptions and decisions regarding termination of pregnancy, in «Pediatric Cardiology», 33(8):1402-10, DOI: 10.1007/s00246-012-0366-9
  20. Huyard C. (2009), What, if anything, is specific about having a rare disorder? Patients’ judgements on being ill and being rare, in «Health Expectations», 12(4):361-70,
  21. Jhaveri K.D., Schrier P.B., Mattana J. (2013), Paging Doctor Google!, in «Heuristics vs. technology», 2:90,
  22. Jhonson J.D. (2003), On contexts of information seeking, in «Information Processing and management», 39 (5): 735-760,, DOI: 10.1016/S0306-4573(02)00030-4
  23. Korda H., Itani Z. (2013), Harnessing social media for health promotion and behavior change, in «Health Promotion Practice», 14 (1): 15-23,, DOI: 10.1177/1524839911405850
  24. Kowalski C., Kahana E., Kuhr K., Ansmann L., Pfaff H. (2014), Changes over time in the utilization of disease-related Internet information in newly diagnosed breast cancer patients 2007 to 2013, in «Journal of Medical Internet Research», 16(8),
  25. Kreps G.L., Thornton B.C. (1984), Health Communication. Theory and Practice, Longman Inc., New York.
  26. Lambert S.D., Loiselle C.G. (2007), Health Information Seeking Behavior, in «Qualitative Health Research», 17 (8): 1006-1019,, DOI: 10.1177/1049732307305199
  27. Liuccio M., Belotti R., Comune A., Zambito V., Schulz P. (2015), Communication in rare diseases: A literature review, in «Journal of communications research», 7: 215-225, ISSN: 1935-3537.
  28. Morgan T, Schmidt J, Haakonsen C., Lewis J., Della Rocca M., Morrison S., Biesecker B., Kaphingst K.A. (2014), Using the Internet to seek information about genetic and rare diseases: a case study comparing data from 2006 and 2011, in «JMIR Research Protocol», 3(1):e10,
  29. Polich G.R. (2012), Rare disease patient groups as clinical researchers, in «Drug Discovery Today», 17(3-4):167-72,
  30. Schumacher K.R., Stringer K.A., Donohue J.E., Yu S., Shaver A., Caruthers R.L., Zikmund-Fisher B.J., Fifer C., Goldberg C., Russell M.W. (2014), Social media methods for studying rare diseases, in «Pediatrics», 133(5):e1345-53,
  31. Siliquini R., Ceruti M., Lovato E., Bert F., Bruno S., De Vito E. et al. (2011), Surfing the Internet for health information: An Italian survey on use and population choice, in «BMC Medical Informatics and Decision Making», 11 (1): 1-9,, DOI: 10.1186/1472-6947-11-21
  32. Sundar S.S., Rice R.E., Kim H.S., Sciamanna C.N. (2011), Online health information: Conceptual challenges and theoretical opportunities in Thompson T.L., Parrot R., Nussbaum J.F. (eds.) The Routledge Handbook of Health Communication, Routledge, New York, pp. 181-202.
  33. Thompson T.L., Parrot R., Nussbaum J.F. (2011), The Routledge Handbook of Health Communication, Routledge, New York.
  34. Velasco E., Agheneza T., Denecke K., Kirchner G., Eckmanns T. (2014), Social media and Internet-based data in global systems for public health surveillance: a systematic review, in «Milbank Quarterly», 92(1):7-33,, DOI: 10.1111/1468-0009.12038
  35. Wicks P., Massagli M., Frost J., Brownstein C., Okun S., Vaughan T., Bradley R., Heywood J. (2010), Sharing health data for better outcomes on PatientsLikeMe, in «J Med Internet Res.» , 12(2):e19,
  36. Zanni G.R.(2012), Locating useful patient brochures and handouts, in «Consult Pharm.» 27(5):366-70,

  1. Michaela Liuccio, Research Anthology on Improving Health Literacy Through Patient Communication and Mass Media pp. 218 (ISBN:9781668424148)
  2. Michaela Liuccio, Communicating Rare Diseases and Disorders in the Digital Age pp. 87 (ISBN:9781799820888)

Michaela Liuccio, in "SOCIOLOGIA DELLA COMUNICAZIONE " 55/2018, pp. 30-47, DOI:10.3280/SC2018-055003


FrancoAngeli è membro della Publishers International Linking Association associazione indipendente e no profit per facilitare l'accesso degli studiosi ai contenuti digitali nelle pubblicazioni professionali e scientifiche