Ultra-rare ultra-care: The unique burden of ultra rare disease caregiving - Publikacja - MOST Wiedzy

Twoje konto

zaloguj

Wyszukiwarka

Ultra-rare ultra-care: The unique burden of ultra rare disease caregiving

Abstrakt

Background: We sought to assesses the impact of caring for children with ultra rare diseases (URDs) on family
carers and to analyse the way these experiences differ among the caregivers of children diagnosed through
prenatal or newborn screening, and those with symptom-based diagnosis.
Methods: A total of 200 caregivers of 219 URDs children completed an on-line survey regarding the challenges
and experiences of caregivers of URDs children.
Results: The majority of URD caregivers felt burdened by their children’s health problems, emotional and
behavioural changes. 46.5% reported feelings of care overload, 43% coped poorly with the stress, and many
experienced a variety of feelings of distress towards the role of caregiver. While most caregivers struggled with
the diagnostic odyssey and were dissatisfied with the healthcare services for URD children, caregivers of children
diagnosed through prenatal or newborn screening were significantly less burdened than the parents of children
with symptom-based diagnoses.
Conclusion: Although caregivers of URDs children experience physical and emotional strain, they are often
neglected by the healthcare system. A bio-psychosocial approach to URDs should therefore also include family
caregivers’ physical and psychosocial needs. Apart from financial and emotional support, enhancing access to
genetic testing and newborn screening should be prioritised. 

Cytowania

Autorzy (2)

Cytuj jako

Pełna treść

pobierz publikację
pobrano 18 razy
Wersja publikacji
Accepted albo Published Version
Licencja
Creative Commons: CC-BY-NC-ND otwiera się w nowej karcie

Słowa kluczowe

Informacje szczegółowe

Kategoria:
Publikacja w czasopiśmie
Typ:
Publikacja w czasopiśmie
Opublikowano w:
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY nr 48, strony 78 - 84,
ISSN: 1090-3798
Rok wydania:
2023
Opis bibliograficzny:
https://www.sciencedirect.com/science/article/pii/S1090379823001873
DOI:
Cyfrowy identyfikator dokumentu elektronicznego (otwiera się w nowej karcie) https://doi.org/10.1016/j.ejpn.2023.12.003
Bibliografia: test
  1. C.R. Ferreira, The burden of rare diseases, Am. J. Med. Genet. 179 (2019) 885-892, https://doi.org/10.1002/ajmg.a.61124. otwiera się w nowej karcie
  2. Uchwała nr 110 Rady Ministrów z dnia 24 sierpnia 2021 r. w sprawie przyjęcia dokumentu Plan dla Chorób Rzadkich. Accessed 15 June 2023. https://isap.sejm. gov.pl/isap.nsf/download.xsp/WMP20210000883/O/M20210883.pdf. otwiera się w nowej karcie
  3. S. Nguengang Wakap, D.M. Lambert, A. Olry, C. Rodwell, C. Gueydan, V. Lanneau, et al., Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database, Eur. J. Hum. Genet. 28 (2) (2020) 165-173, https://doi.org/ 10.1038/s41431-019-0508-0. otwiera się w nowej karcie
  4. M. Haendel, N. Vasilevsky, D. Unni, C. Bologa, N. Harris, H. Rehm, et al., How many rare diseases are there? Nat. Rev. Drug Discov. 19 (2) (2020) 77-78, https:// doi.org/10.1038/d41573-019-00180-y. otwiera się w nowej karcie
  5. -X. Rare, The Power of Being Counted. A More Accurate Count of Rare Diseases and Steps to Getting Counted, 2022. https://rare-x.org/wp-content/uploads/2022 /05/be-counted-052722-WEB.pdf. (Accessed 10 June 2023). otwiera się w nowej karcie
  6. The Lancet Diabetes Endocrinology, Spotlight on rare diseases, Lancet Diabetes Endocrinol. 7 (2) (2019) 75, https://doi.org/10.1016/S2213-8587(19)30006-3. otwiera się w nowej karcie
  7. A. Schieppati, J.-I. Henter, E. Daina, A. Aperia, Why rare diseases are an important medical and social issue, Lancet 371 (9629) (2008) 2039-2041, https://doi.org/ 10.1016/S0140-6736(08)60872-7. otwiera się w nowej karcie
  8. S. Dharssi, D. Wong-Rieger, M. Harold, S. Terry, Review of 11 national policies for rare diseases in the context of key patient needs, Orphanet J. Rare Dis. 12 (1) (2017) 63, https://doi.org/10.1186/s13023-017-0618-0. otwiera się w nowej karcie
  9. N. Khosla, R. Valdez, A compilation of national plans, policies and government actions for rare diseases in 23 countries, Intractable Rare Dis. Res. 7 (4) (2018) 213-222, https://doi.org/10.5582/irdr.2018.01085. otwiera się w nowej karcie
  10. A. Montserrat, D. Taruscio, Policies and actions to tackle rare diseases at European level, Ann. Ist. Super Sanita 55 (3) (2019) 296-304, https://doi.org/10.4415/ ANN_19_03_17. otwiera się w nowej karcie
  11. R.C. Hennekam, Care for patients with ultra-rare disorders, Eur. J. Med. Genet. 54 (3) (2011) 220-224, https://doi.org/10.1016/j.ejmg.2010.12.001. otwiera się w nowej karcie
  12. S. Harari, Why we should care about ultra-rare disease? Eur. Respir. Rev. 25 (140) (2016) 101-103, https://doi.org/10.1183/16000617.0017-2016. otwiera się w nowej karcie
  13. C.I.E. Smith, P. Bergman, D.W. Hagey, Estimating the number of diseases -the concept of rare, ultra-rare, and hyper-rare, iScience 25 (8) (2022), 104698, https:// doi.org/10.1016/j.isci.2022.104698. otwiera się w nowej karcie
  14. S. Harari, M. Humbert, Ultra-rare disease: an European perspective, Eur. Respir. Rev. 29 (156) (2020), 200195, https://doi.org/10.1183/16000617.0195-2020. otwiera się w nowej karcie
  15. S.T. Crooke, A call to arms against ultra-rare diseases, Nat. Biotechnol. 39 (2021) 671-677, https://doi.org/10.1038/s41587-021-00945-0. otwiera się w nowej karcie
  16. J. Domaradzki, Family caregivers' experiences with healthcare services -a case of Huntington disease, Psychiatr. Pol. 50 (2) (2016) 375-391, https://doi.org/ 10.12740/PP/59103. otwiera się w nowej karcie
  17. S. Teutsch, Y. Zurynski, G.D. Eslick, M. Deverell, J. Christodoulou, H. Leonard, et al., Australian children living with rare diseases: health service use and barriers to accessing care, World J. Pediatr. 19 (7) (2023) 701-709, https://doi.org/10.1007/ s12519-022-00675-6. otwiera się w nowej karcie
  18. J. Boettcher, M. Boettcher, S. Wiegand-Grefe, H. Zapf, Being the pillar for children with rare diseases-A systematic review on parental quality of life, Int. J. Environ. Res. Publ. Health 18 (9) (2021) 4993, https://doi.org/10.3390/ijerph18094993. otwiera się w nowej karcie
  19. C. von der Lippe, I. Neteland, K.B. Feragen, Children with a rare congenital genetic disorder: a systematic review of parent experiences, Orphanet J. Rare Dis. 17 (1) (2022) 375, https://doi.org/10.1186/s13023-022-02525-0. otwiera się w nowej karcie
  20. K. Sandilands, A. Williams, A.J. Rylands, Carer burden in rare inherited diseases: a literature review and conceptual model, Orphanet J. Rare Dis. 17 (1) (2022) 428, https://doi.org/10.1186/s13023-022-02561-w. otwiera się w nowej karcie
  21. J. Mcmullan, L. Lohfeld, A.J. McKnight, Needs of informal caregivers of people with a rare disease: a rapid review of the literature, BMJ Open 12 (12) (2022), e063263, https://doi.org/10.1136/bmjopen-2022-063263. otwiera się w nowej karcie
  22. G. Brancato, S. Macchia, M. Murgia, M. Signore, G. Simeoni, K. Blanke, et al., The Handbook of Recommended Practices for Questionnaire Development and Testing in the European Statistical System, 2005. https://ec.europa.eu/eurostat/ramon/st atmanuals/files/Handbook_of_Practices_for_Quest.pdf. (Accessed 10 June 2023). otwiera się w nowej karcie
  23. N. Sawicka-Gutaj, D. Gruszczyński, P. Guzik, A. Mostowska, J. Walkowiak, Publication ethics of human studies in the light of the Declaration of Helsinki -a mini-review, JMS 91 (2022), https://doi.org/10.20883/medical.e700 e700-e700. otwiera się w nowej karcie
  24. R.M. Smits, E. Vissers, R. te Pas, N. Roebbers, W.F.J. Feitz, I.A.L.M. van Rooij, et al., Common needs in uncommon conditions: a qualitative study to explore the need for care in pediatric patients with rare diseases, Orphanet J. Rare Dis. 17 (2022) 153, https://doi.org/10.1186/s13023-022-02305-w. otwiera się w nowej karcie
  25. J. Xu, H. Bao, X. Qi, J. Wang, H. Yin, C. Shang, et al., Family caregivers of rare disease: a survey on health-related quality of life in family caregivers for Gaucher disease patients in China, Mol. Genet. Genom.Med. 9 (9) (2021), e1760, https:// doi.org/10.1002/mgg3.1760. otwiera się w nowej karcie
  26. N. Black, F. Martineau, T. Manacorda, Diagnostic Odyssey for Rare Diseases: Exploration of Potential Indicators, Policy Innovation Research Unit, 2015. http: //piru.lshtm.ac.uk/assets/files/Rare%20diseases%20Final%20report.pdf. (Accessed 10 June 2023).
  27. A. Bauskis, C. Strange, C. Molster, C. Fisher, The diagnostic odyssey: insights from parents of children living with an undiagnosed condition, Orphanet J. Rare Dis. 17 (1) (2022) 233, https://doi.org/10.1186/s13023-022-02358-x. otwiera się w nowej karcie
  28. T. Willmen, L. Willmen, A. Pankow, S. Ronicke, H. Gabriel, A.D. Wagner, Rare diseases: why is a rapid referral to an expert center so important? BMC Health Serv. Res. 23 (1) (2023 Aug 23) 904, https://doi.org/10.1186/s12913-023-09886-7. otwiera się w nowej karcie
  29. J.C. Long, S. Best, B. Nic Giolla Easpaig, S. Hatem, Z. Fehlberg, et al., Needs of people with rare diseases that can be supported by electronic resources: a scoping review, BMJ Open 12 (2022), e060394, https://doi.org/10.1136/bmjopen-2021- 060394. otwiera się w nowej karcie
  30. D. Walkowiak, J. Domaradzki, Are rare diseases overlooked by medical education? Awareness of rare diseases among physicians in Poland: an explanatory study, Orphanet J. Rare Dis. 16 (2021) 400, https://doi.org/10.1186/s13023-021-02023- 9. otwiera się w nowej karcie
  31. L. Zhou, J. Xu, J. Yang, Poor education and urgent information need for emergency physicians about rare diseases in China, Orphanet J. Rare Dis. 17 (1) (2022) 211, https://doi.org/10.1186/s13023-022-02354-1. otwiera się w nowej karcie
  32. D. Walkowiak, K. Bokayeva, A. Miraleyeva, J. Domaradzki, The awareness of rare diseases among medical students and practicing physicians in the Republic of Kazakhstan. An exploratory study, Front. Public Health 10 (2022), 872648, https://doi.org/10.3389/fpubh.2022.872648. otwiera się w nowej karcie
  33. T. Gammie, C.Y. Lu, Z.U. Babar, Access to orphan drugs: a comprehensive review of legislations, regulations and policies in 35 countries, PLoS One 10 (10) (2015), e0140002, https://doi.org/10.1371/journal.pone.0140002. otwiera się w nowej karcie
  34. A.Y.L. Chan, V.K.Y. Chan, S. Olsson, M. Fan, M. Jit, M. Gong, S. Zhang, et al., Access and unmet needs of orphan drugs in 194 countries and 6 areas: a global policy review with content analysis, Value Health 23 (12) (2020) 1580-1591, https://doi.org/10.1016/j.jval.2020.06.020. otwiera się w nowej karcie
  35. L.J. Pelentsov, A.L. Fielder, T.A. Laws, A.J. Esterman, The supportive care needs of parents with a child with a rare disease: results of an online survey, BMC Fam. Pract. 17 (2016) 88, https://doi.org/10.1186/s12875-016-0488-x. otwiera się w nowej karcie
  36. J. Baumbusch, S. Mayer, I. Sloan-Yip, Alone in a crowd? Parents of children with rare diseases' experiences of navigating the healthcare System, J. Genet. Counsel. 28 (1) (2019) 80-90, https://doi.org/10.1007/s10897-018-0294-9. otwiera się w nowej karcie
  37. C. Valcárcel-Nazco, Y. Ramallo-Fariña, R. Linertová, J.M. Ramos-Goñi, L. García- Pérez, P. Serrano-Aguilar, Health-related quality of life and perceived burden of informal caregivers of patients with rare diseases in selected European countries, Int. J. Environ. Res. Publ. Health 19 (13) (2022) 8208, https://doi.org/10.3390/ ijerph19138208. otwiera się w nowej karcie
  38. G. Currie, J. Szabo, "It is like a jungle gym, and everything is under construction": the parent's perspective of caring for a child with a rare disease, Child Care Health Dev. 45 (1) (2019) 96-103, https://doi.org/10.1111/cch.12628. otwiera się w nowej karcie
  39. C. Lavery, C.J. Hendriksz, S.A. Jones, Mortality in patients with Sanfilippo syndrome, Orphanet J. Rare Dis. 12 (2017) 168, https://doi.org/10.1186/s13023- 017-0717-y. otwiera się w nowej karcie
  40. D.P. Germain, J. Charrow, R.J. Desnick, N. Guffon, J. Kempf, R.H. Lachmann, et al., Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease, J. Med. Genet. 52 (5) (2015) 353-358, https://doi.org/ 10.1136/jmedgenet-2014-102797. otwiera się w nowej karcie
  41. V. Gragnaniello, A.P. Burlina, G. Polo, A. Giuliani, L. Salviati, G. Duro, et al., Newborn screening for Fabry disease in Northeastern Italy: results of five years of experience, Biomolecules 11 (7) (2021) 951, https://doi.org/10.3390/ biom11070951. otwiera się w nowej karcie
  42. D. Matern, D. Gavrilov, D. Oglesbee, K. Raymond, P. Rinaldo, S. Tortorelli, Newborn screening for lysosomal storage disorders, Semin. Perinatol. 39 (3) (2015) 206-216, https://doi.org/10.1053/j.semperi.2015.03.005. otwiera się w nowej karcie
  43. R. Bachmann-Gagescu, J.C. Dempsey, S. Bulgheroni, M.L. Chen, S. D'Arrigo, I. A. Glass, et al., Healthcare recommendations for Joubert syndrome, Am. J. Med. Genet. 182 (1) (2020) 229-249, https://doi.org/10.1002/ajmg.a.61399. otwiera się w nowej karcie
  44. J.G. Loeber, D. Platis, R.H. Zetterström, S. Almashanu, F. Boemer, J.R. Bonham, P. Borde, I. Brincat, D. Cheillan, E. Dekkers, D. Dimitrov, R. Fingerhut, L. Franzson, U. Groselj, D. Hougaard, M. Knapkova, M. Kocova, V. Kotori, V. Kozich, A. Kremezna, R. Kurkijärvi, G. La Marca, R. Mikelsaar, T. Milenkovic, V. Mitkin, F. Moldovanu, U. Ceglarek, L. O'Grady, M. Oltarzewski, R.D. Pettersen, D. Ramadza, D. Salimbayeva, M. Samardzic, M. Shamsiddinova, J. Songailiené, I. Szatmari, N. Tabatadze, B. Tezel, A. Toromanovic, I. Tovmasyan, N. Usurelu, P. Vevere, L. Vilarinho, M. Vogazianos, R. Yahyaoui, M. Zeyda, P.C.J.I. Schielen, Neonatal screening in europe revisited: an ISNS perspective on the current state and developments since 2010, Int. J. Neonatal Screen 7 (1) (2021) 15, https://doi. org/10.3390/ijns7010015. otwiera się w nowej karcie
  45. C.G. van El, T. Rigter, A.J. Reuser, A.T. van der Ploeg, S.S. Weinreich, M.C. Cornel, Newborn screening for Pompe disease? a qualitative study exploring professional views, BMC Pediatr. 14 (2014) 203, https://doi.org/10.1186/1471-2431-14-203. otwiera się w nowej karcie
  46. J. Domaradzki, Patient rights, risk and responsibilities in genetic era: a right to know, a right not to know, or a duty to know? Ann. Agric. Environ. Med. 22 (1) (2015) 156-162, https://doi.org/10.5604/12321966.1141387. otwiera się w nowej karcie
  47. R.Z. Hayeems, F.A. Miller, C.J. Barg, Y. Bombard, J.C. Carroll, K. Tam, E. Kerr, P. Chakraborty, B.K. Potter, S. Patton, J.P. Bytautas, L. Taylor, C. Davies, J. Milburn, A. Price, T. Gonska, K. Keenan, F. Ratjen, A. Guttmann, Psychosocial response to uncertain newborn screening results for cystic fibrosis, J. Pediatr. 184 (2017) 165-171.e1, https://doi.org/10.1016/j.jpeds.2017.01.049. otwiera się w nowej karcie
  48. A. Tluczek, A.L. Ersig, S. Lee, Psychosocial issues related to newborn screening: a systematic review and synthesis, Int. J. Neonatal Screen 8 (4) (2022) 53, https:// doi.org/10.3390/ijns8040053. otwiera się w nowej karcie
Weryfikacja:
Brak weryfikacji

wyświetlono 22 razy

Publikacje, które mogą cię zainteresować

Emotional experiences of family caregivers of children with Dravet syndrome

2023

Caring for Children with Dravet Syndrome: Exploring the Daily Challenges of Family Caregivers

2023

Evaluating the challenges and needs of parents caring for children with Williams syndrome: A preliminary study from Poland

2024

Professional activity, gender and disease-related emotions: The impact on parents' experiences in caring for children with phenylketonuria

2023
Meta Tagi