Yıl: 2019 Cilt: 0 Sayı: 14 Sayfa Aralığı: 80 - 94 Metin Dili: Türkçe İndeks Tarihi: 29-07-2022

NADİR HASTALIKLARIN AİLELER ÜZERİNDEKİ PSİKO-SOSYAL, FİZİKSEL VE EKONOMİK ETKİLERİ

Öz:
Nadir hastalıklar, nüfusun geneline oranla daha az sayıda insanda görülen (1/2000 ve daha az kişide) hastalıkları ifade etmektedir. Nadir hastalıklar ciddi, kronik, ilerleyici ve yıpratıcı özelliklere sahip olmakla birlikte bir çok hastalık için tıbbi ve bilimsel bilgi eksikliği mevcuttur, yeterli-uygun tedavi seçenekleri bulunmamaktadır. Tüm bu özellikleri taşıyan bir hastalığa sahip olmanın hem hasta hem de ailesi üzerinde psiko-sosyal, fiziksel ve ekonomik etkileri bulunmaktadır. Nadir hastalığa sahip bir bireyin ailesi olmak, hastalık sürecinin etkilerini doğrudan ve dolaylı olarak yaşamak anlamına gelmektedir. Fiziksel olarak aileler hastalığın tanı ve tedavi sürecinde kilo kaybı, iştahsızlık, yorgunluk, uyku problemleri gibi bir çok fiziksel etkiyi yaşamaktadırlar. Psikolojik olarak aile içinde teşhis süreci çok uzun, tedavi olanakları kısıtlı ya da olmayan nadir bir hastalığın bulunması, aile üyeleri için depresyon, kaygı, korku, kızgınlık, şüphe, belirsizlik gibi bir çok sonuca yol açmaktadır. Sosyal açıdan arkadaş sayılarının azalmasına, sosyal destek mekanizmalarının zayıflamasına ve sosyal olarak toplumdan izole hissetmelerine neden olmaktadır. Ailelerin yaşadığı en görünür etkilerden olan ekonomik etkiler konusunda ise aileler, teşhis ve tedavi imkanlarına erişim güçlüğü, işgücü kaybı gibi kendilerini ekonomik olarak baskılayacak bir çok farklı etkiye maruz kalmaktadırlar. Bu çalışmanın amacı, nadir bir hastalığa sahip olmanın aile üzerindeki psiko-sosyal, fiziksel ve ekonomik etkilerini tartışmaktır.
Anahtar Kelime: aile ekonomik etkiler. psiko-sosyal etkiler Nadir hastalıklar fiziksel etkiler Nadir hastalıklar, aile, fiziksel etkiler, psiko-sosyal etkiler, ekonomik etkiler.

PHYSICAL, PSYCHO-SOCIAL AND ECONOMIC EFFECTS OF RARE DISEASES ON FAMILIES

Öz:
Rare diseases refer to diseases (less than 1/2000 people) seen in fewer people than in the general population. Although rare diseases have serious, chronic, progressive and corrosive properties, there is a lack of medical and scientific knowledge for many diseases and there are not adequate-appropriate treatment options. Having all these features has psycho-social, physical and economic impacts on both the patient and the family. Being a family of an individual with rare disease means living directly or indirectly the effects of the disease process. Physically, families experience many physical effects such as weight loss, loss of appetite, fatigue, sleep problems during the diagnosis and treatment of the disease. Psychologically, the diagnosis process in the family is very long, the presence of a rare disease with or without treatment options leads to many consequences such as depression, anxiety, fear, anger, suspicion and uncertainty for family members. In social terms, the number of friends is reduced, social support mechanisms are weakened and socially isolated from society. As for the economic impact of the most visible effects on families, families are exposed to many different impacts that would economically suppress themselves, such as the difficulty in access to diagnosis and treatment, and the loss of labor. The aim of this study is to discuss psycho-social, the physical and economic effects of having a rare disease on the family.
Anahtar Kelime: Rare diseases family phycical effects psycho-social effects economic effects

Belge Türü: Makale Makale Türü: Derleme Erişim Türü: Erişime Açık
  • 1. 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. Orphanet Journal of Rare Diseases, 8(1), 22. http://doi.org/10.1186/1750-1172-8-22.
  • 2. Brewer, H., Eatough, V., Smith, J.A., Stanley, C.A., Glendinning, N.W., Quarrell, O.W.J. (2008). The impact of juvenile Huntington's disease on the family: the case of a rare childhood condition. Journal of Health Psychology, 13, 5-16, https://doi.org/10.1177/1359105307084307.
  • 3. Brown, K.A.E., Barbarin, O.A. (1996). Gender differences in parenting a child with cancer. Social Work in Health Care, 22(4), 53-71. https://doi.org/10.1300/J010v22n04_04.
  • 4. Burke, S. O., Costello, E. A., Handley-Derry, M., Kauffmann, E., Dillon, M., (1997). Stress-point preparation for parents of repeatedly hospitalized children with chronic conditions. Research in Nursing and Health, 20, 475-485. |https://doi.org/10.1002/(SICI)1098-240X(199712)20:6 3.0.CO;2-J.
  • 5. Burke, S. O., Kauffmann, E. C., Harrison, M. B., Wiskin, N., (1999). Assessment of stressors in families with a child who has a chronic condition. Maternal Child Nursing, 24, 98–106.
  • 6. Dharssi, S., Wong-Rieqer, D., Harold, M., Terry, S. (2017). Review of 11 national policies for rare diseases in the context of key patient needs. Orphanet Journal of Rare Diseases, 12 (1) 63- 76. http://doi.org/10.1186/s13023-017-0618-0.
  • 7. Doğuç, E. (2017). Yetim ilaçların (orphan drugs-nadir hastalıklarda kullanılan ilaçlar) Türkiye’de ve dünyadaki durumu. Sağlık Akademisyenleri Dergisi, 4 (3), 196-201. http://doi.org/10.5455/sad.13- 1502288229.
  • 8. Dündar, M., Karabulut, S. Y. (2010). Türkiye’de nadir hastalıklar ve yetim ilaçlar; Medikal ve sosyal problemler. Erciyes Tıp Dergisi, 32(3):195-200.
  • 9. Eatough, V., Santini, H., Eiser, C., Goller, M.-L., Krysa, W., de Nicola, A., … Smith, J. A. (2013). The personal experience of parenting a child with Juvenile Huntington’s Disease: perceptions across. Europe. European Journal of Human Genetics, 21(10), 1042–1048. http://doi.org/10.1038/ejhg.2013.15.
  • 10. Enskar, K., Carlsson, M., Golsater, M., Hamrin, E., Kreuger, A. (1997). Parental reports of changes and challenges that result from parenting a child with cancer. Journal of Pediatric Oncology Nursing, 14, 156–163. https://doi.org/10.1016/S1043-4542(97)90051-5.
  • 11. Eurordis. (2009). The voice of 12,000 patients: experiences and expectations of rare disease: Patients on diagnosis and care in Europe. Erişim Tarihi: 12 Şubat 2017, https://www.eurordis.org/IMG/pdf/voice_12000_patients/EURORDISCARE_FULLBOOKr.pdf.
  • 12. Eurordis. (2017). Juggling care and daily life: The balancing act of the rare disease community. Erişim Tarihi: 5 Aralık 2017, http://download2.eurordis.org.s3.amazonaws.com/rbv/2017_05_09_Social%20survey%20leaflet%20 final.pdf. 92
  • 13. Ferrell, B.R., Rhiner, M., Shapiro, B., Dierkes, M. (1994). The experience of pediatric cancer pain, part I: Impact of pain on the family. Journal of Pediatric Nursing, 9, 368–379.
  • 14. Fields, A. I., Rosenblatt, A., Pollack, M. M., Kaufman, J. (1991). Home care cost-effectiveness for respiratory technology-dependent children. American Journal of Diseases of Children, 145(7), 728-732. http://doi.org/10.1001/archpedi.1991.02160070025016.
  • 15. French National Plan for Rare Diseases 2005-2008. (2004). Ensuring equity in the access to diagnosis, treatment and provision of care. Erişim Tarihi: 18 Ocak 2018, https://www.eurordis.org/IMG/pdf/EN_french_rare_disease_plan.pdf.
  • 16. Gallo, A. M., Hadley, E. K., Angst, D. B., Knafl, K. A., Smith, C. A. (2008). Parents’ concerns about issues related to their children's genetic conditions. Journal for Specialists in Pediatric Nursing, 13(1), 4-14. https://doi.org/10.1111/j.1744-6155.2008.00129.x.
  • 17. Global Genes Allies in Rare Diseases. (2017). Statistics and Figures on Prevalence of Genetic and Rare Diseases. Erişim Tarihi: 21 Kasım 2017, https://globalgenes.org/rare-diseases-facts-statistics/.
  • 18. Kirk, S., Glendinning, C. (2004). Developing services to support parents caring for a technologydependent child at home. Child: Care, Health and Development, 30(3), 209-218. https://doi.org/10.1111/j.1365-2214.2004.00393.x.
  • 19. Kürtüncü Tanır, M., Kuğuoğlu S. (2006). Teknolojiye bağımlı çocuğun evde bakımı. Sürekli Tıp Eğitimi Dergisi, 15(12) 214-8.
  • 20. Lamb, C., Peden, A. (2008). Understanding the experience of living with spinal muscular atrophy: A qualitative description. Journal of Neuroscience Nursing, 40, 250-256.
  • 21. Lavandeira, A. (2002). Orphan drugs: Legal aspects, current situation. Haemophilia, 8(3), 194-198. https://doi.org/10.1046/j.1365-2516.2002.00643.x.
  • 22. Martinson, I.M., Liu-Chiang, C.Y., Yi-Hua, L. (1997). Distress symptoms and support systems of Chinese parents of children with cancer. Cancer Nursing, 20, 94–99.
  • 23. National Institutes of Health. (2017). Rare Diseases. Erişim tarihi 15 Kasım 2017, https://medlineplus.gov/rarediseases.html.
  • 24. Nunn, R. (2017). “It’s not all in my head!” - The complex relationship between rare diseases and mental health problems. Orphanet Journal of Rare Diseases, 12, 29. http://doi.org/10.1186/s13023-017-0591- 7.
  • 25. Orphanet Türkiye. (2017). Nadir hastalık nedir? Erişim Tarihi: 21 Kasım 2017, http://www.orpha.net/national/TR-R/index/nadirhastal%C4%B1klarakk%C4%B1nda/.
  • 26. Pelentsov, L. J., Fielder, A. L., Laws, T. A., Esterman, A. J. (2016). The supportive care needs of parents with a child with a rare disease: results of an online survey. BMC Family Practice, 17(1), http://doi.org/10.1186/s12875-016-0488-x.
  • 27. Pelentsov, L. J., O'Shaughnessy, P. K., BHSc, Laws, T. A., Esterman, A. J. (2014). What are the supportive care needs of parents caring for a child diagnosed with ectodermal dysplasia: A rare genetic disorder? International Journal of Child Health and Human Development, 7(1), 23-29. 93
  • 28. Pierucci, P., Lenato, G. M., Suppressa, P., Lastella, P., Triggiani, V., Valerio, R., ... Sabba, C. (2012). A long diagnostic delay in patients with hereditary haemorrhagic telangiectasia: A questionnaire-based retrospective study. Orphanet Journal of Rare Diseases, 7(1), 33. https://doi.org/10.1186/1750-1172- 7-33.
  • 29. Ratcliffe, J., Longworth, L. (2002). Investigating the structural reliability of a discrete choice experiment within health technology assessment. International Journal of Technology Assessment in Health Care, 18(1), 139-144.
  • 30. Rode, J. (2005). Rare diseases: understanding this public health priority. EURORDIS: Paris, France. Erişim Tarihi: 24 Şubat 2017, ttps://www.eurordis.org/IMG/pdf/princeps_document-EN.pdf.
  • 31. Santos Luz, G. D., Silva, M. R. S. D., DeMontigny, F. (2016). Priority needs referred vy families of rare disease patients. Texto & Contexto-Enfermagem, 25(4). e0590015. Epub November 28, 2016. http://doi.org/10.1590/0104-07072016000590015.
  • 32. Schieppati, A., Henter, J., Daina, E., Aperia, A. (2008). Why rare diseases are an important medical and social issue. Lancet, 371 (9629), 2039–2041. https://doi.org/10.1016/S0140-6736(08)60872-7.
  • 33. Shields, G., Schondel, C., Barnhart, L., Fitzpatrick, V., Sidell, N., Adams, P., Fertig, B., Gomez, S. (1995). Social work in pediatric oncology: A family needs assessment. Social Work in Health Care, 21(1), 39-54. https://doi.org/10.1300/J010v21n01_04.
  • 34. Shire. (2013). Rare Disease Impact Report: Insights from Patients and The Medical Community. Erişim Tarihi: 12.11.2018, https://globalgenes.org/wp-content/uploads/2013/04/ShireReport-1.pdf.
  • 35. Somanadhan, S., Larkin, P. J. (2016). Parents’ experiences of living with, and caring for children, adolescents and young adults with Mucopolysaccharidosis (MPS). Orphanet Journal of Rare Diseases, 11, 138. http://doi.org/10.1186/s13023-016-0521-0.
  • 36. Taruscio, D., Agresta, L., Amato, A., Bernardo, G., Bernardo, L., Braguti, F., … Vittozzi, L. (2014). The Italian National Centre for Rare Diseases: Where research and public health translate into action. Blood Transfusion, 12 (3), 591–605. http://doi.org/10.2450/2014.0040-14s.
  • 37. Teague, B. R., Fleming, J. W., Castle, A., Kiernan, B. S., Lobo, M. L., Riggs, S., Wolfe, J. G. (1993). "High- Tech" Home Care for Children With Chronic Health Conditions: A Pilot Study. Journal of Pediatric Nursing, 8, 226-232.
  • 38. Türkiye İstatistik Kurumu, (2016). İstatistiklerle Aile, Erişim tarihi: 10 Nisan 2017, http://www.tuik.gov.tr/PreTablo.do?alt_id=1059.
  • 39. Van der Zeijden, A., Huizer, J. (2010). Recommendations for the development of national plans for rare diseases. Orphanet Journal of Rare Diseases, 5(1), O3. http://doi.org/10.1186/1750-1172-5-S1-O3.
  • 40. Van Scheppingen, C., Lettinga, A. T., Duipmans, J. C., Maathuis, K. G., Jonkman, M. F. (2008). The main problems of parents of a child with epidermolysis bullosa. Qualitative Health Research, 18(4), 545-556. http://doi.org/10.1177/1049732308315110.
  • 41. Yiu, J.M., Twinn, S. (2001). Determining the needs of Chinese parents during the hospitalization of their child diagnosed with cancer: An exploratory study. Cancer Nursing, 24, 483-489. 94
  • 42. Young, L., Creighton, D., Sauve, R. (1988) The needs of families of infants discharged home with continuous oxygen therapy. Journal of Obstetric, Gynaecological and Neonatal Nursing, 17, 187–193. https://doi.org/10.1111/j.1552-6909.1988.tb00424.x.
  • 43. Youngblut, J., Brennan, P., Swegart, L. (1994). Families with medically fragile children: an exploratory study. Pediatric Nursing, 20, 463-468.
  • 44. Zurynski, Y., Deverell, M., Dalkeith, T., Johnson, S., Christodoulou, J., Leonard, H., Elliott, E. J. (2017). Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays. Orphanet Journal of Rare Diseases, 12(1). http://doi.org/10.1186/s13023-017-0622- 4.
APA Aslantürk H, DERİN M, Arslan S (2019). NADİR HASTALIKLARIN AİLELER ÜZERİNDEKİ PSİKO-SOSYAL, FİZİKSEL VE EKONOMİK ETKİLERİ. , 80 - 94.
Chicago Aslantürk Hüsnünur,DERİN Murat,Arslan Serdar NADİR HASTALIKLARIN AİLELER ÜZERİNDEKİ PSİKO-SOSYAL, FİZİKSEL VE EKONOMİK ETKİLERİ. (2019): 80 - 94.
MLA Aslantürk Hüsnünur,DERİN Murat,Arslan Serdar NADİR HASTALIKLARIN AİLELER ÜZERİNDEKİ PSİKO-SOSYAL, FİZİKSEL VE EKONOMİK ETKİLERİ. , 2019, ss.80 - 94.
AMA Aslantürk H,DERİN M,Arslan S NADİR HASTALIKLARIN AİLELER ÜZERİNDEKİ PSİKO-SOSYAL, FİZİKSEL VE EKONOMİK ETKİLERİ. . 2019; 80 - 94.
Vancouver Aslantürk H,DERİN M,Arslan S NADİR HASTALIKLARIN AİLELER ÜZERİNDEKİ PSİKO-SOSYAL, FİZİKSEL VE EKONOMİK ETKİLERİ. . 2019; 80 - 94.
IEEE Aslantürk H,DERİN M,Arslan S "NADİR HASTALIKLARIN AİLELER ÜZERİNDEKİ PSİKO-SOSYAL, FİZİKSEL VE EKONOMİK ETKİLERİ." , ss.80 - 94, 2019.
ISNAD Aslantürk, Hüsnünur vd. "NADİR HASTALIKLARIN AİLELER ÜZERİNDEKİ PSİKO-SOSYAL, FİZİKSEL VE EKONOMİK ETKİLERİ". (2019), 80-94.
APA Aslantürk H, DERİN M, Arslan S (2019). NADİR HASTALIKLARIN AİLELER ÜZERİNDEKİ PSİKO-SOSYAL, FİZİKSEL VE EKONOMİK ETKİLERİ. Tıbbi Sosyal Hizmet Dergisi, 0(14), 80 - 94.
Chicago Aslantürk Hüsnünur,DERİN Murat,Arslan Serdar NADİR HASTALIKLARIN AİLELER ÜZERİNDEKİ PSİKO-SOSYAL, FİZİKSEL VE EKONOMİK ETKİLERİ. Tıbbi Sosyal Hizmet Dergisi 0, no.14 (2019): 80 - 94.
MLA Aslantürk Hüsnünur,DERİN Murat,Arslan Serdar NADİR HASTALIKLARIN AİLELER ÜZERİNDEKİ PSİKO-SOSYAL, FİZİKSEL VE EKONOMİK ETKİLERİ. Tıbbi Sosyal Hizmet Dergisi, vol.0, no.14, 2019, ss.80 - 94.
AMA Aslantürk H,DERİN M,Arslan S NADİR HASTALIKLARIN AİLELER ÜZERİNDEKİ PSİKO-SOSYAL, FİZİKSEL VE EKONOMİK ETKİLERİ. Tıbbi Sosyal Hizmet Dergisi. 2019; 0(14): 80 - 94.
Vancouver Aslantürk H,DERİN M,Arslan S NADİR HASTALIKLARIN AİLELER ÜZERİNDEKİ PSİKO-SOSYAL, FİZİKSEL VE EKONOMİK ETKİLERİ. Tıbbi Sosyal Hizmet Dergisi. 2019; 0(14): 80 - 94.
IEEE Aslantürk H,DERİN M,Arslan S "NADİR HASTALIKLARIN AİLELER ÜZERİNDEKİ PSİKO-SOSYAL, FİZİKSEL VE EKONOMİK ETKİLERİ." Tıbbi Sosyal Hizmet Dergisi, 0, ss.80 - 94, 2019.
ISNAD Aslantürk, Hüsnünur vd. "NADİR HASTALIKLARIN AİLELER ÜZERİNDEKİ PSİKO-SOSYAL, FİZİKSEL VE EKONOMİK ETKİLERİ". Tıbbi Sosyal Hizmet Dergisi 14 (2019), 80-94.