TY  - JOUR
T1  - Nadir Hastalıklar ve Hemşirelik
TT  - Rare Disease and Nursing
AU  - Ay, Adile
AU  - Özer, Serap
PY  - 2023
DA  - December
Y2  - 2022
DO  - 10.53490/egehemsire.1116558
JF  - Ege Üniversitesi Hemşirelik Fakültesi Dergisi
JO  - EGEHFD
PB  - Ege Üniversitesi
WT  - DergiPark
SN  - 2147-3463
SP  - 438
EP  - 442
VL  - 39
IS  - 3
LA  - tr
AB  - Nadir hastalıklar 10.000'de beşten az kişiyi etkileyen hastalıklar olarak tanımlanmaktadır. Bu hastalıklar görünürde az sayıda kişiyi etkilese de yüksek morbidite, mortalite oranlarına sahiptir ve tedavi kaynaklarının kısıtlı olduğu klinik bir tablo oluşturmaktadır. Çoğunun etkili bir tedavisi yoktur ve karmaşık bir bakım süreci gerektirmektedir. Multidisipliner yaklaşım diğer hastalık gruplarında olduğu gibi nadir hastalıklarda da oldukça önemlidir. Hemşireler bu noktada eğitim, savunuculuk, araştırmacı, yönetici, danışman rolleri ile ön plana çıkmaktadır. Aynı zamanda hastaların hastalık algısında pozitif yönde iyileşmeler sağlayabilmektedir. Bakım sürecinin tamamında hemşirelerin kilit rolleri göz önüne alındığında; güncel kaynakların oluşturulması önemli noktalardandır. Bu derleme makalenin; nadir hastalıklarda etkili bakım yönetiminin sağlanması sürecinde hemşirelere kaynak oluşturacağı düşünülmektedir.
KW  - Nadir hastalıklar
KW  - bakım
KW  - hemşirelik
N2  - Rare diseases are defined as diseases that affect less than five people in 10.000. Although these diseases affect only a small number of people, they have high morbidity and mortality rates and create a clinical picture with limited treatment resources. Most do not have an effective treatment and require a complex care process. Multidisciplinary approach is very important in rare diseases as in other disease groups. At this point, nurses come to the fore with their education, advocacy, researcher, manager and consultant roles. At the same time nurses can provide positive improvements in patients' perception of illness. Considering the key roles of nurses in the whole care process; The creation of up-to-date resources is an important point. This compilation article; It is thought that it will create a resource for nurses in the process of providing effective care management in rare diseases.
CR  - Aksu B. (2019). Rare disease and orphan drug situations in Turkey and around the World. Journal of Health Sciences, 1(2):95–109. Erişim adresi: https://dergipark.org.tr/tr/download/article-file/762583
CR  - Anderson, M., Elliott, EJ., Zurynski, YA. (2013) Australian families living with rare disease: experiences of diagnosis, health services use and needs for psychosocial support. Orphanet Journal of Rare Diseases, 8(22). https://doi.org/10.1186/1750-1172-8-22
CR  - Austin, CP., Cutillo, CM., Lau, LPL., Jonker, AH., Rath, A., Julkowska, D. … Dawkins, H. (2018). Future of rare diseases research 2017-2027: An IRDiRC perspective. Clinical and Translational Science, 11(1):21–7. https://doi.org/10.1111/cts.12500
CR  - Australian Government Department of Health. The National Strategic Action Plan for Rare Diseases 2020. (2021). Erişim adresi: https://www.health.gov.au/sites/default/files/documents/2020/03/national-strategic-action-plan-for-kidney-disease_0.pdf.
CR  - Auvin, S., Irwin, J., Abi-Aad, P., Battersby, A. The problem of rarity: estimation of prevalence in rare disease. (2018). Value in Health, 21(5), 501–507. https://doi.org/10.1016/J.JVAL.2018.03.002
CR  - Bogart, KR., Irvin, VL. (2017). Health-related quality of life among adults with diverse rare disorders. Orphanet Journal of Rare Diseases, 12(1):1–9. https://doi.org/10.1186/S13023-017-0730-1
CR  - EURORDIS Rare Diseases Europe. What Is a Rare Disease?. (2021). Erişim adresi: https://www.eurordis.org/content/what-rare-disease. 
Ferreira, CR. (2019). The burden of rare diseases. American Journal of Medical Genetics Part A, 179(6):885–92. https://doi.org/10.1002/ajmg.a.61124
CR  - Groft, SC., Posada de la Paz, M. (2017). Rare diseases: joining mainstream research and treatment based on reliable epidemiological data. Advances in experimental medicine and biology, 1031:3-21. https://doi.org/10.1007/978-3-319-67144-4_1
CR  - Jaeger, G., Röjvik, A., Berglund, B. (2015). Participation in society for people with a rare diagnosis. Disability and Health Journal, 8(1):44–50.  https://doi.org/10.1016/J.DHJO.2014.07.004
CR  - McLean, AEB., Webster, SE., Fry, M., Lau, EM., Corte, P., Torzillo, PJ. … Corte, TJ. (2021). Priorities and expectations of patients attending a multidisciplinary interstitial lung disease clinic. Respirology, 26(1):80–6. https://doi.org/10.1111/RESP.13913
CR  - Molster, C., Urwin, D., Di Pietro, L., Fookes, M., Petrie, D., van der Laan, S., Dawkins, H. (2016). Survey of healthcare experiences of Australian adults living with rare diseases. Orphanet Journal of Rare Diseases, 11(1). https://doi.org/10.1186/s13023-016-0409-z
CR  - Nadir Hastalıklar Ağı. Nadir Hastalık Nedir? (2021). Erişim adresi: https://www.nadirhastaliklaragi.org.tr/.
CR  - Pelentsov, LJ., Fielder, AL., Esterman, AJ. (2016). The supportive care needs of parents with a child with a rare disease: a qualitative descriptive study. Journal of Pediatric Nursing, 31(3):e207–18. https://doi.org/10.1016/j.pedn.2015.10.022
CR  - Powell T, O’donnell M. NICE appraisals of rare diseases. Debate Pack. (2021). Erişim adresi: https://researchbriefings.files.parliament.uk/documents/CDP-2019-0022/CDP-2019-0022.pdf.
CR  - Ramalle-Gómara, E., Domínguez-Garrido, E., Gómez-Eguílaz, M., Marzo-Sola, ME., Ramón-Trapero, JL., Gil-de-Gómez, J. (2020). Education and information needs for physicians about rare diseases in Spain. Orphanet Journal of Rare Diseases, 15(1):18. https://doi.org/10.1186/s13023-019-1285-0
CR  - Türkiye Halk Sağlığı ve Kronik Hastalıklar Enstitüsü. Nadir Hastalıklar Raporu 2019. (2021). Erişim adresi: https://www.tuseb.gov.tr/tuhke/uploads/genel/files/haberler/nadir_hastaliklar_raporu.pdf.
CR  - Türkiye Halk Sağlığı ve Kronik Hastalıklar Enstitüsü. Nadir Hastalıklar Farkındalık Günü Sempozyumu Raporu. (2021). Erişim adresi: https://www.tuseb.gov.tr/tuhke/uploads/genel/files/nadir_hastaliklar_raporu.pdf.
CR  - von der Lippe, C., Diesen, PS., Feragen, KB. (2017). Living with a rare disorder: a systematic review of the qualitative literature. Molecular Genetics & Genomic Medicine, 5(6), 758–773. https://doi.org/10.1002/mgg3.315
CR  - Walkowiak, D., Domaradzki, J. (2020). Needs assessment study of rare diseases education for nurses and nursing students in Poland. Orphanet Journal of Rare Diseases,15(1). https://doi.org/10.1186/S13023-020-01432-6
CR  - Yang, J., Dong, C., Duan, H., Shu, Q., Li, H. RDmap: a map for exploring rare diseases. (2021). Orphanet J Rare Diseases, 16(1):101. https://doi.org/10.1186/s13023-021-01741-4
UR  - https://doi.org/10.53490/egehemsire.1116558
L1  - https://dergipark.org.tr/tr/download/article-file/2427340
ER  -