Nurses' Knowledge and Awareness About Rare Diseases

Year 2024, Issue: 9, 38 - 46, 30.08.2024

Serap Özer , Nedime Hazal Döner

https://doi.org/10.58252/artukluhealth.1495484

Abstract

Introduction: Rare diseases refers to a heterogeneous group of diseases that affect any body system. The most important point in delays in the diagnosis of rare diseases is that the knowledge and awareness of health professionals is not sufficient. This study aimed to investigate the level of knowledge and awareness of nurses, who take an active role and responsibility in patient care and follow-up, regarding rare diseases.
Methods: This research is a descriptive online study and was conducted with nurses. 300 nurses, selected using a virtual snowball sampling approach and filling out the popularized online Google Form link using electronic communication tools, participated in the study. “Nurse Introduction Form” and “Rare Diseases Information and Awareness Form” were used as data collection tools.
Results: The mean age of the participating nurses was 30.56±6.32, with 73.3% being female. It was found that 9.3% of the nurses had a family member diagnosed with a rare disease, while 84% did not, and 6.7% had no information about the situation. Only 13% of the participants felt prepared to provide care for a patient with a rare disease, whereas 90.3% expressed a desire to increase their knowledge about rare diseases.
Conclusion: The unmet psychological, social, personal and care needs of individuals with rare diseases indicate that health systems need to be improved. As seen in our study results, nurses' knowledge of rare diseases is low and this also affects awareness. Increasing the level of knowledge and awareness about rare diseases will enable the provision of care that supports the quality of life of patients fighting this disease, the quality of care will increase, and the diseases will be diagnosed at an early stage.

Keywords

Nursing, Rare Diseases, Knowledge, Awareness

Ethical Statement

The study was approved by Ege University Medical Research Ethics Committee (Date: 09.09.2021, REF: 21-9T/3). Since the use of human subjects in the study requires the protection of personal rights, the Helsinki Declaration on Human Rights was adhered to. Before completing the online forms, participants were asked to give their informed consent to continue with the forms.

Thanks

We would like to thank all participants for their support to the study.

Hemşirelerin Nadir Hastalıklar Konusundaki Bilgi ve Farkındalıkları

Abstract

Giriş: Nadir hastalıklar, herhangi bir vücut sistemini etkileyen heterojen hastalık grubunu ifade etmektedir. Nadir hastalıkların tanısındaki gecikmelerde en önemli husus; sağlık profesyonellerinin bilgi ve farkındalıklarının yeterli düzeyde olmamasıdır. Bu çalışma ile hasta bakımı ve izleminde aktif rol ve sorumluluk alan hemşirelerin; nadir hastalıklara yönelik bilgi düzeylerinin ve farkındalıklarının araştırılması amaçlanmıştır.
Yöntem: Bu araştırma tanımlayıcı, çevrimiçi bir çalışma olup, hemşireler ile yürütülmüştür. Çalışmaya sanal bir kartopu örnekleme yaklaşımı kullanılarak seçilen 300 hemşire, yaygınlaştırılmış çevrimiçi “Google Form” bağlantısı ile elektronik haberleşme araçlarını kullanarak katılmışlardır. Veri toplama araçları olarak “Hemşire Tanıtım Formu”, “Nadir Hastalıklar Bilgi ve Farkındalık Formu” kullanılmıştır.
Bulgular: Katılımcı hemşirelerin yaş ortalaması 30.56±6.32 olup, %73.3’ü kadındır. Hemşirelerin %9.3’ünün ailesinde nadir hastalık tanısı olan birey bulunduğu tespit edilirken, %84’ünde bulunmadığı ve %6.7’sinin ise durumla ilgili bilgisinin olmadığı tespit edilmiştir. Katılımcıların sadece %13’ü nadir bir hastalığı olan hastaya bakım vermek için kendini hazır hissettiğini ifade ederken %90.3’ü nadir hastalıklar hakkındaki bilgisini arttırmak istediğini belirtmiştir.
Sonuç: Nadir hastalıklara sahip bireylerin karşılanmamış psikolojik, sosyal, kişisel ve bakım gereksinimlerinin olması, sağlık sistemlerinin iyileştirilmesi gerektiğini göstermektedir. Çalışma sonuçlarımızda da görüldüğü üzere hemşirelerin; nadir hastalıklara yönelik bilgi düzeylerinin düşük olduğu ve bu durumunda farkındalık düzeylerini etkilediği görülmektedir. Nadir hastalıklar ile ilgili bilgi düzeyinin ve farkındalığın artması; bu hastalıkla savaşan hastalara destekleyici bakım sunulmasına, bakımın kalitesinin artmasına ve hastalıkların erken dönemde tanılanmasına olanak sağlayacaktır.

Keywords

Hemşirelik, Nadir hastalıklar, Bilgi, Farkındalık

Ethical Statement

Çalışma Ege Üniversitesi Tıbbi Araştırmalar Etik Kurulu tarafından (Tarih: 09.09.2021, Sayı: 21-9T/3) onaylanmıştır. Çalışmada insan olgusunun kullanımı kişisel hakların korunmasını gerektirdiğinden, İnsan Hakları Helsinki Deklarasyonu’na sadık kalınmıştır. Çevrimiçi formları doldurmadan önce katılımcıların formlara devam etmesi için bilgilendirilmiş olurlarını vermeleri istenmiştir.

Thanks

Tüm katılımcılara çalışmaya verdikleri destekten dolayı teşekkür ederiz.

References

• Ahmed, N. J., Alrawili, A. S., and Alkhawaja, F. Z. (2021). Pharmacy and medicine students’ self-assessment of their knowledge about rare diseases. Journal of Pharmaceutical Research International, 33(10), 29–33. https://doi.org/10.9734/jpri/2021/v33i1031231
• Allred, D., Frech, T.M., McComber, C., Peterson, K., Ortiz, G., McNeill, C., Broadbent, L., Elorreaga, N., Miller, T., and Scholand, M. B. (2017). Chronic multiorgan rare disease: the role of the nurse practitioner as a leader of the healthcare team. The Journal of medical practice management : MPM, 32(6), 413–416.
• Bakirci, G. ve Üstü, Y. (2017). Aile hekimliğinde nadir hastalıklara yaklaşım. Ankara Medical Journal, 17(3), 174 - 178.
• Baumbusch, J., Mayer, S., and Sloan-Yip, I. (2018). Alone in a crowd? Parents of children with rare diseases' experiences of navigating the healthcare system. Journal of Genetic Counseling, 28(1), 80-90. https://doi.org/10.1007/s10897-018-0294-9
• Benito-Lozano, J., Arias-Merino, G., Gómez-Martínez, M., Arconada-López, B., Ruiz-García, B., Posada de la Paz, M., and Alonso-Ferreira, V. (2023). Psychosocial impact at the time of a rare disease diagnosis. PloS One, 18(7), e0288875. https://doi.org/10.1371/journal.pone.0288875
• Bokayeva, K., Miraleyeva, A., and Walkowiak, D. (2021). Rare diseases – a challenge for the medical world. Journal of Medical Science, 90(1), e503. http://dx.doi.org/10.20883/medical.e503
• Depping, M. K., Uhlenbusch, N., von Kodolitsch, Y., Klose, H. F. E., Mautner, V. F., and Löwe, B. (2021). Supportive care needs of patients with rare chronic diseases: Multi-method, cross-sectional study. Orphanet Journal of Rare Diseases, 16(1), 44. https://doi.org/10.1186/s13023-020-01660-w
• Domaradzki, J., and Walkowiak, D. (2019). Medical students' knowledge and opinions about rare diseases: A case study from Poland. Intractable & Rare Diseases Research, 8(4), 252–259. https://doi.org/10.5582/irdr.2019.01099
• Elliott, E. J., Nicoll, A., Lynn, R., Marchessault, V., Hirasing, R., and Ridley, G. (2001). Rare disease surveillance: An international perspective. Paediatrics & Child Health, 6(5), 251–260.
• Engel, P., Bagal, A., Broback, M. ve Boice, N. (2013). Physician and patient perceptions regarding physician training in rare diseases: The need for stronger educational initiatives for physicians. J Rare Disord., 1(2), 1–15.
• Fehr, A., and Prütz, F. (2023). Rare diseases: a challenge for medicine and public health. Journal of Health Monitoring, 8(4), 3–6. https://doi.org/10.25646/11826
• Jonas, K., Waligóra, M., Hołda, M., Sulicka-Grodzicka, J., Strach, M., Podolec, P., and Kopeć, G. (2017). Knowledge of rare diseases among health care students – the effect of targeted education. Przeglad Epidemiologiczny, 71(1), 80–89.
• Leal, J.A.L., and Melo, C.M.M. (2018). The nurses' work process in different countries: an integrative review. Revista Brasileira de Enfermagem, 71(2), 413–423. https://doi.org/10.1590/0034-7167-2016-0468
• Lerma, V., Macías, M., Toro, R., Moscoso, A., Alonso, Y., Hernández, O., and de Abajo, F. J. (2018). Care in patients with epidermal necrolysis in burn units. A nursing perspective. Burns: Journal of the International Society for Burn Injuries, 44(8), 1962–1972. https://doi.org/10.1016/j.burns.2018.06.010
• Luzzatto, L., Hollak, C. E., Cox, T. M., Schieppati, A., Licht, C., Kääriäinen, H., Merlini, G., Schaefer, F., Simoens, S., Pani, L., Garattini, S., and Remuzzi, G. (2015). Rare diseases and effective treatments: are we delivering? Lancet (London, England), 385(9970), 750–752. https://doi.org/10.1016/S0140-6736(15)60297-5
• Miteva, T.S, Jordanova, R., Iskrov, G., and Stefanov, R. (2011). General knowledge and awareness on rare diseases among general practitioners in Bulgaria. Georgian Medical News, (193), 16–19.
• Morel, T., and Cano, S. J. (2017). Measuring what matters to rare disease patients - reflections on the work by the IRDiRC taskforce on patient-centered outcome measures. Orphanet Journal of Rare Diseases, 12(1), 171. https://doi.org/10.1186/s13023-017-0718-x
• Özer, S., ve Ay, A. (2023). Nadir hastalıklar ve hemşirelik. Ege Üniversitesi Hemşirelik Fakültesi Dergisi, 39(3), 438-442. https://doi.org/10.53490/egehemsire.1116558
• Palau, F. (2010). Enfermedades raras, un paradigma emergente en la medicina del siglo XXI [Rare diseases, an emergent paradigm in the medicine of the XXI century]. Medicina Clinica, 134(4), 161–168. https://doi.org/10.1016/j.medcli.2009.06.038
• Rafferty, A. M., Busse, R., Zander-Jentsch, B., Sermeus, W., and Bruyneel, L. (Eds.). (2019). Strengthening health systems through nursing: Evidence from 14 European countries. European Observatory on Health Systems and Policies.
• Ramalle-Gómara, E., Domínguez-Garrido, E., Gómez-Eguílaz, M., Marzo-Sola, M. E., Ramón-Trapero, J. L., and 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
• Ramalle-Gómara, E., Ruiz, E., Quiñones, C., Andrés, S., Iruzubieta, J., and Gil-de-Gómez, J. (2015). General knowledge and opinion of future health care and non-health care professionals on rare diseases. Journal of evaluation in clinical practice, 21(2), 198–201. https://doi.org/10.1111/jep.12281
• Richter, T., Nestler-Parr, S., Babela, R., Khan, Z. M., Tesoro, T., Molsen, E., Hughes, D. A., and International Society for Pharmacoeconomics and Outcomes Research Rare Disease Special Interest Group (2015). Rare disease terminology and definitions-a systematic global review: Report of the ISPOR rare disease special interest group. Value in health: the journal of the International Society for Pharmacoeconomics and Outcomes Research, 18(6), 906–914. https://doi.org/10.1016/j.jval.2015.05.008
• Satman, İ., Güdük, Ö., Yemenici, M. ve Ertürk, N. (2019). Nadir hastalıklar raporu. Türkiye Halk Sağlığı ve Kronik Hastalıklar Enstitüsü. İstanbul. http://www.orpha.net/national/data/TR-TR/www/uploads/T%C3%9CSEB-Nadir-Hastaliklar-Raporu.pdf adresinden 20.01.2024 tarihinde alınmıştır.
• Schieppati, A., Henter, J. I., Daina, E., and Aperia, A. (2008). Why rare diseases are an important medical and social issue. Lancet (London, England), 371(9629), 2039–2041. https://doi.org/10.1016/S0140-6736(08)60872-7
• Ürek, D. ve Karaman, S. (2019). Önemli bir halk sağlığı sorunu olarak nadir hastalıklar ve yetim ilaçlar. Hacettepe Sağlık İdaresi Dergisi, 22(4), 863-878.
• Vandeborne, L., van Overbeeke, E., Dooms, M., De Beleyr, B., and Huys, I. (2019). Information needs of physicians regarding the diagnosis of rare diseases: a questionnaire-based study in Belgium. Orphanet journal of rare diseases, 14(1), 99. https://doi.org/10.1186/s13023-019-1075-8
• Von der Lippe, C., Diesen, P. S., and Feragen, K. B. (2017). Living with a rare disorder: A systematic review of qualitative literature. Molecular Genetics & Genomic Medicine, 5(6), 758–773. https://doi.org/10.1002/mgg3.315
• Walkowiak, D., and Domaradzki, J. (2020). Needs assessment study of rare diseases education for nurses and nursing students in Poland. Orphanet Journal of Rare Diseases, 15(1), 167. https://doi.org/10.1186/s13023-020-01432-6
• Walkowiak, D., and Domaradzki, J. (2021). Are rare diseases overlooked by medical education? Awareness of rare diseases among physicians in Poland: An explanatory study. Orphanet Journal of Rare Diseases, 16(1), 400. https://doi.org/10.1186/s13023-021-02023-9
• Walsh, E. (2018). A nursing perspective on rare diseases: mesothelioma. British journal of Nursing (Mark Allen Publishing), 27(17), S26–S28. https://doi.org/10.12968/bjon.2018.27.17.S26
• Whicher, D., Philbin, S., and Aronson, N. (2018). An overview of the impact of rare disease characteristics on research methodology. Orphanet Journal of Rare Diseases, 13(1), 14. https://doi.org/10.1186/s13023-017-0755-5
• Wirtz, V. J. (2015). Priority medicines for Europe and the World: setting a public-health-based medicines development agenda. Journal of Pharmaceutical Policy and Practice, 8(Suppl 1), K4. https://doi.org/10.1186/2052-3211-8-S1-K4