Open Access Open Access  Restricted Access Subscription Access

Increasing the person-centered care of patients and their families living with rare diseases. An Analysis and Commentary on ‘Home-based service for enzyme replacement therapy in lysosomal storage disorders: patient reported outcomes’. Tirelli, P., Giona, F., Di Rocco, M., Cassinerio, E., Pieruzzi, F., Pisani, A., Veroux, M., on behalf of the Tutor Working Group & Giudici, G. A. and Cipriani, F. (2018). European Journal for Person Centered Healthcare 6 (4) 669–674

Andrew Miles, Jonathan Elliot Asbridge

Abstract


No abstract

Keywords


Accompaniment, clinical options, constellation of symptoms, diagnosis, economic benefits, enzyme replacement therapy, epidemiology, equity of access, freedom to choose, home-based care, hospital-based therapy, humanistic framework, lysosomal storage disea

Full Text:

PDF

References


de Duve, C., Pressman, B.C., Gianetto, R., Wattiaux, R. & Appelmans, F. (1955). Tissue fractionation studies - 6. Intracellular distribution patterns of enzymes in rat-liver tissue. The Biochemical Journal 60 (4) 604-617.

de Duve, C. (2005). The lysosome turns fifty. Nature Cell Biology 7, 847-849.

Bainton, D.F. (1981). The discovery of lysosomes. Journal of Cell Biology 91 (3) 66S-76S.

Settembre, C., Fraldi, A., Medina, D.L. & Ballabio, A. (2013). Signals from the lysosome: a control centre for cellular clearance and energy metabolism. Nature Reviews Molecular Cell Biology 14, 283-296.

Medina, D.L. & Ballabio, A. (2015). Lysosomal calcium regulates autophagy. Autophagy 11, 970-971.

Perera, R.M. & Zoncu, R. (2016). The lysosome as a regulatory hub. Annual Review of Cell and Developmental Biology 32, 223-253.

Todkar, K., Ilamathi, H.S. & Germain, M. (2017). Mitochondria and lysosomes: discovering bonds. Frontiers in Cell and Developmental Biology 5, 106. doi:10.3389/fcell.2017.00106.

Kilpatrick, B.S., Eden, E.R., Hockey, L.N., Yates, E., Futter, C.E. & Patel, S. (2017). An Endosomal NAADP-Sensitive Two-Pore Ca2+ Channel Regulates ER-Endosome Membrane Contact Sites to Control Growth Factor Signalling. Cell Reports 18 (7) 1636-1645.

Annunziata, I., Sano, R. & d’Azzo, A. (2018). Mitochondria-associated ER membranes (MAMs) and lysosomal storage diseases. Cell Death & Disease 9 (3) 328.

Lawrence, R.E. & Zoncu, R. (2019). The lysosome as a cellular centre for signalling, metabolism and quality control. Nature Cell Biology 21, 133-142.

Nobel Prize Committee for Physiology or Medicine - Press Release (1974). Nobel Prize awarded jointly to Albert Claude, Christian de Duve and George E. Palade "for their discoveries concerning the structural and functional organization of the cell”. Available at: https://www.nobelprize.org/prizes/medicine/1974/summary/.

Hers, H.G. (1965). Inborn lysosomal diseases. Gastroenterology 48, 625-633.

Platt, F.M., d’Azzo, A., Davidson, B.L., Neufeld, E.F. & Tifft, C.J. (2018). Lysosomal storage disease. Nature Reviews Disease Primers 4 (1) [Article Number: 28 pp 1 - 25].

Meikle, P.J., Hopwood, J.J., Clague, A.E. & Carey, W.F. (1999). Prevalence of lysosomal storage disorders. Journal of the American Medical Association 281, 249-254.

Lachmann, R.H. (2019). Treating lysosomal storage disorders: what have we learnt? Journal of Inherited Metabolic Disease Epub ahead of print: https://doi.org/10.1002/jimd.12131.

Freedman, R., Sahhar, M., Curnow, L., Lee, J. & Peters, H. (2013). Receiving enzyme replacement therapy for a lysosomal storage disorder: a preliminary exploration of the experiences of young patients and their families. Journal of Genetic Counseling 22 (4) 517-532.

Ortolano, S., Vieitez, I., Navarro, C. & Spuch, C. (2014). Treatment of lysosomal storage diseases: recent patents and future strategies. Recent Patents on Endocrine, Metabolic & Immune Drug Discovery 8 (1) 9-25.

Jameson, E., Jones, S. & Remmington, T. (2019). Enzyme replacement therapy with laronidase (Aldurazyme(®) for treating mucopolysaccharidosis type I. Cochrane Database of Systematic Reviews 6:CD009354.

Tirelli, P., Giona, F., Di Rocco, M., Cassinerio, E., Pieruzzi, F., Pisani, A., Veroux, M., Alberto, G., Guidici, G.A. & Cipriani, F. (2018). Home-based service for enzyme replacement therapy in lysosomal storage disorders: patient reported outcomes. European Journal for Person Centered Healthcare 6 (4) 669-674.

McConkie-Rosell, A., Hooper, S.R., Pena, L.D.M., Schoch, K., Spillmann, R.C., Jiang, Y.H., Cope, H. & the Undiagnosed Diseases Network. (2018). Psychosocial profiles of parents of children with undiagnosed diseases: managing well or just managing? Journal of Genetic Counseling 27 (4) 935-946.

Baumbusch, J., Mayer, S. & 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.

Inglese, C.N., Elliott, A.M., Lehman, A., Adam, S., du Souich, C., Mwenifumbo, J., Nelson, T.N., van Karnebeek, C. & Friedman, J.M. (2019). New developmental syndromes: Understanding the family experience, Journal of Genetic Counseling 28 (2) 202-212.

Bolsover, F.E., Murphy, E., Cipolotti, L., Werring, D.J. & Lachmann, R.H. (2014). Cognitive dysfunction and depression in Fabry disease: a systematic review. Journal of Inherited Metabolic Disease 37 (2) 177-187.

Grisold, W., Struhal, W. & Grisold, T. (2019). What is advocacy? In: Advocacy in Neurology, pp. 3-20. (Grisold, W., Struhal, W. & Grisold, T. Eds.). Oxford: Oxford University Press.

Maione M. (2008). The Lived Experience of Parents with Children Diagnosed with Mucopolysaccharidosis waiting for Enzyme Replacement Therapy. Available from: https://www.researchgate.net/publication/45512728_The_lived_experience_of_parents_with_children_diagnosed_with_mucopolysaccharidosis_waiting_for_enzyme_replacement_therapy.

Grant, S., Cross, E., Wraith, E.J., Jones, S., Mahon, L., Lomax, M, Brigger, B. & Hare, D. (2013). Parental social support, coping strategies, resilience factors, stress, anxiety and depression levels in parents of children with MPS III (Sanfilippo syndrome) or children with intellectual disabilities (ID). Journal of Inherited Metabolic Diseases 36, 281-291.

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 Disease 11, 138.

Besier, T., Born, A., Henrich, G., Hinz, A’, Quittner, A. L., Goldbeck, L. & the TIDES Study Group (2011). Anxiety, depression, and life satisfaction in parents caring for children with cystic fibrosis. Pediatric Pulmonology 46, 672-682.

Weng, H.J., Niu, D.M., Turale, S., Tsao, L.I., Shih, F.J., Yamamoto-Mitani, N., Chang, C.C. & Shih, F.J. (2012). Family caregiver distress with children having rare genetic disorders: a qualitative study involving Russell-Silver Syndrome in Taiwan. Journal of Clinical Nursing 21 (1-2) 160-169.

Anderson, M., Elliott, E. & Zurynski, Y. (2013). Australian families living with rare disease: experiences of diagnosis, health services use and needs for psychosocial support. Orphanet Journal of Rare Disease 8, 22.

Pelentsov, L.J., Laws, T.A. & Esterman, A.J. (2015). The supportive care needs of parents caring for a child with a rare disease: a scoping review. Disability and Health Journal 8 (4) 475-491.

Miles, A. & Asbridge, J.E. (2016). The chronic illness problem. The person-centered solution. European Journal for Person Centered Healthcare 4 (1) 1-5.

Miles, A. & Asbridge, J.E. (2017). Person-Centered Healthcare – moving from rhetoric to methods, through implementation to outcomes. European Journal for Person Centered Healthcare 5 (1) 1-9.

Miles, A. & Asbridge, J.E. (2018). Person-centeredness in health and social care – what exactly is it that patients and their carers want? European Journal for Person Centered Healthcare 6 (1) 1-4.

Hanratty, B., Lowson, E., Holmes, L., Grande, G., Jacoby, A., Payne, S., Seymour, J. & Whitehead, M. (2012). Breaking bad news sensitively: what is important to patients in their last year of life? BMJ Supportive & Palliative Care 2 (1) 24-28.

Parry, R., Land, V. & Seymour, J. (2014). How to communicate with patients about future illness progression and end of life: a systematic review. BMJ Supportive & Palliative Care 4 (4) 331-341.

Aoun, S. (2018). The palliative approach to caring for motor neurone disease: from diagnosis to bereavement. European Journal for Person Centered Healthcare 6 (4) 675-684.

Aoun, S., Hogden, A. & Kho, L.K. (2018). “Until there is a cure, there is care”. A person-centered approach to supporting the wellbeing of people with Motor Neurone Disease and their family carers. European Journal for Person Centered Healthcare 6 (2) 320-328.

Lavery, C. (2006). Role of patient support groups in lysosomal storage diseases. In: Fabry Disease: Perspectives from 5 Years of FOS. (Eds: Mehta A, Beck M, Sunder-Plassmann G). Oxford PharmaGenesis [Chapter 12. Available from: https://www.ncbi.nlm.nih.gov/books/NBK11585/].

Aymé, S., Kole, A. & Groft, S. (2008). Empowerment of patients: lessons from the rare diseases community. Lancet 371 (9629) 2048-2051.

Black, P.A. & Baker, M. (2011). The impact of parent advocacy groups, the Internet, and social networking on rare diseases: The IDEA League and IDEA League United Kingdom example. Epilepsia 52 (s2).

Embuldeniya, G., Veinot, P., Bell, E., Bell, M., Nyhof-Young, J., Sale, J.E.M. & Britten, N. (2013). The experience and impact of chronic disease peer support interventions: A qualitative synthesis. Patient Education and Counseling 92 (1) 3-12.

Hall, J.G. (2013). The role of patient advocacy/parent support groups. South African Medical Journal 103 (12) 1020-1022.

Rhee, M., Mui, P., Cadogan, C., Imerman, J., Lindsell, S. & Samant, T. L. (2014). The Role of Brain Tumor Advocacy Groups, Current Neurology and Neuroscience Reports 14 (4) 442.

Mongan, D., Long, J. & Farragher, L. (2016). Models of patient advocacy. Evidence brief. Health Research Board, UK. Available at: https://health.gov.ie/wp-content/uploads/2016/12/Final-Version-Patient-Advocacy-Services.pdf.

Cousins, A., Lee, P., Rorman, D., Raas-Rothschild, A., Banikazemi, M., Waldek, S. & Thompson, L. (2008). Home-based infusion therapy for patients with Fabry disease. British Journal of Nursing 17 (10) 653-657.

Milligan, A., Hughes, D., Goodwin, S., Richfield, L. & Mehta, A. (2006). Intravenous enzyme replacement therapy: better in home or hospital? British Journal of Nursing 15 (6) 330-333.

Huang, I.C., Kenzik, K.M., Sanjeev, T.Y., Shearer, P.D., Revicki, D.A., Nackashi, J.A. & Shenkman, E.A. (2010). Quality of life information and trust in physicians among families of children with life-limiting conditions. Patient Related Outcome Measures 2010 (1) 141-148.

Carlström, E.D., Hansson Olofsson, E., Olsson, L.E., Nyman, J. & Koinberg, I.L. (2017). The unannounced patient in the corridor: trust, friction and person-centered care. International Journal of Health Planning and Management 32 (1) e1-e16.

Wolf, A., Moore, L., Lydahl, D., Naldemirci, O., Elam, M. & Britten, N. (2017). The realities of partnership in person-centred care: a qualitative interview study with patients and professionals. BMJ Open 7, e016491.

Healthcare at Home. Transforming Healthcare. Available at: www.hah.co.uk.

Healthcare at Home. Available at: https://www.nhs.uk/Services/pharmacies/Overview/DefaultView.aspx?id=12522.

Hackett, M. (2011). Homecare Medicines. Towards a Vision for the Future. Department of Health. Available at: http://media.dh.gov.uk/network/121/files/2011/12/111201-Homecare-Medicines-Towards-a-Vision-for-the-Future2.pdf.

. Hackett, M. (2013). Homecare Medicines Towards a Vision for the Future - Taking Forward the Recommendations. Department of Health. Available at: https://www.rpharms.com/Portals/0/RPS%20document%20library/Open%20access/Professional%20standards/Professional%20standards%20for%20Homecare%20services/towards-a-vision-for-the-future-taking-forward-the-recommendations.pdf.

Royal Pharmaceutical Society (2014). Handbook for Homecare Services in England. Available at: https://www.rpharms.com/Portals/0/RPS%20document%20library/Open%20access/Professional%20standards/Professional%20standards%20for%20Homecare%20services/homecare-services-handbook.pdf.

Miles, A. & Asbridge, J.E. (2019). The NHS Long Term Plan (2019) - is it person-centered? European Journal for Person Centered Healthcare 7 (1) 1-11.

Miles, A. & Asbridge, J.E. (2014). Modern healthcare: a technical giant, yet an ethical child? European Journal for Person Centered Healthcare 2, 135-139.

Miles, A. (2015). From EBM to PCH: always predictable, now inexorable. Journal of Evaluation in Clinical Practice 21, 983-987.

Miles, A. (2017). From evidence-based to evidence-informed, from patient-focussed to person-centered – the ongoing ‘energetics’ of health and social care discourse as we approach the Third Era of Medicine. Journal of Evaluation in Clinical Practice 23 (1) 3-4.

Miles, A. (2018). Evidence-based medicine - 2018. Quo Vadis? Journal of Evaluation in Clinical Practice 24 (1) 3-6.

Miles, A. & Asbridge, J.E. (2014). On the need for transformational leadership in the delivery of person-centered clinical practice within 21st Century healthcare systems. European Journal for Person Centered Healthcare 2, 261-264.

Montgomery, K. (2006) How Doctors Think. Clinical Judgement and the Practice of Medicine. Oxford: Oxford University Press.

Miles, A. (2007). Science: a limited source of knowledge and authority in the care of patients. Journal of Evaluation in Clinical Practice, 13, 545-563.




DOI: http://dx.doi.org/10.5750/ejpch.v7i2.1763

Refbacks

  • There are currently no refbacks.