Policy recommendations for rare disease centres of expertise

Syed, Mohamed Ahmed; Camp, Rob; Mischorr-Boch, Christina; Houÿez, François; Aro, Arja R.

doi:10.1016/j.evalprogplan.2015.03.006

Cited by 10 publications

(12 citation statements)

References 12 publications

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“…Affected individuals can also experience problems and delays in obtaining an accurate diagnosis, and in finding reliable information (Syed et al. ).…”

Section: Discussionmentioning

confidence: 99%

“…In a Swedish study about everyday impact from having a rare disease, results show that 32% of their 1660 questionnaire respondents had experienced maltreatment and 15% had experienced not being believed or acknowledged, as direct results of the lack of knowledge of the diagnosis in health care (Wallenius et al 2009). Affected individuals can also experience problems and delays in obtaining an accurate diagnosis, and in finding reliable information (Syed et al 2015).…”

Section: Lack Of Knowledge About Rare Conditionsmentioning

confidence: 99%

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Living with a rare disorder: a systematic review of the qualitative literature

Lippe

Diesen

Feragen

2017

Molec Gen & Gen Med

229

223

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BackgroundIndividuals with rare diseases may face challenges that are different from those experienced in more common medical conditions. A wide range of different rare conditions has resulted in a myriad of studies investigating the specificities of the diagnosis in focus. The shared psychological experiences of individuals with a rare condition, however, have not been reviewed systematically.MethodsWe performed a systematic review, including qualitative studies on adults, published between 2000 and 2016. Papers including more than one rare genetic or nongenetic diagnosis were included. Studies based on single diagnoses were excluded except for four specific conditions: hemophilia (bleeding disorder), phenylketonuria (metabolic disorder), Fabry disease (lysosomal storage disorder), and epidermolysis bullosa (skin disorder).ResultsThe review identified 21 studies. Findings were synthesized and categorized according to three main themes: (1) Consequences of living with a rare disorder, (2) Social aspects of living with a rare disorder, and (3) Experiences with the health care system. Findings point to several unique challenges, such as the psychological, medical, and social consequences of a lack of knowledge about the condition in health care and social settings.ConclusionThe findings highlight the need for more research on the shared psychological and social impact of living with a rare diagnosis across conditions, in order to identify risk factors and inform clinical practice.

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“…Affected individuals can also experience problems and delays in obtaining an accurate diagnosis, and in finding reliable information (Syed et al. ).…”

Section: Discussionmentioning

confidence: 99%

Section: Lack Of Knowledge About Rare Conditionsmentioning

confidence: 99%

Living with a rare disorder: a systematic review of the qualitative literature

Lippe

Diesen

Feragen

2017

Molec Gen & Gen Med

229

223

View full text Add to dashboard Cite

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“…A lack of knowledge by some HCPs can have detrimental effects, including delaying diagnosis 46 , which is already a stressful event 5 . Where relevant, carers being recognised as experts in a rare disease is necessary, but not often the case 47, 48 . Carers are keen to have equality with patients when it comes to healthcare services “ The same respect for my needs as that which the disabled person is entitled to” .…”

Section: Discussionmentioning

confidence: 99%

“…Carers being recognised and treated equally would streamline the of the patient, where the health care system relies on carers to carry out so much of the day to day functions necessary for a patient’s wellbeing. Collaboration with healthcare professionals is mentioned in the literature as something of value and which has a positive impact on carers 47-49 . Carers were adamant they would like to receive more respect as carers and experience improved communication between HCPs with both patients and carers, particularly with respect to co-developing care plans.…”

Section: Discussionmentioning

confidence: 99%

Carer reported experiences: supporting someone with a rare disease

McMullan¹,

Crowe²,

Downes³

et al. 2020

Preprint

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Background The uniqueness and complexity of rare diseases, together with a perceived lack of understanding from health professionals, can make caring for someone with a rare disease extremely challenging. Carers are often forced to become expert patients alongside people they care for. Due to the demands placed upon carers it is essential that appropriate support is available for them to ensure they can continue to carry out this vital role. This exploratory study researched challenges carers face when looking after someone with a rare disease and identify how they could be better supported in this role. Methods To be eligible to participate, respondents had to be adults caring for someone with a rare disease. Mixed methods were used including an online survey (n=57 respondents) where carers highlighted a need for better support specific to their mental health needs, liaising with health and social care professionals, financial, communication, training and respite options. During a facilitated workshop (n=32 attendees) discussions focused on challenges carers face as well as priorities to better support carer needs in the future. Results While carers reported several positive aspects of their caring role, the majority of comments highlighted challenges such as sub-optimal interactions with healthcare professionals, insufficient (or absent) emotional, psychological and social support, lack of financial support, and lack of awareness of existing support services. Conclusion It is important that strategies are put in place to ensure that carers take the time they need to care for themselves and raise awareness of available support options for carers of people with a rare disease(s) from health and social care providers, charities, or support groups.

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“…50 The continuity of care through all stages of the disease and all stages of life is ensured by these centres. 51 The existence of reference centres implies that the distance between the patient's home and the centre should not be too far and that it should be located in the area corresponding to the patient's health care system for reimbursement purposes. 52 Reference centres can strongly contribute to research, as they provide a pool of patients for clinical studies.…”

Section: The Role Of Reference Centresmentioning

confidence: 99%

Alpha-1 Antitrypsin Deficiency: Principles of Care

et al. 2020

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Alpha-1 antitrypsin deficiency is an autosomal co-dominant inherited disorder that results in decreased circulating levels of alpha-1 antitrypsin (also known as alpha-1 proteinase inhibitor) and predisposes affected individuals to early onset lung and liver disease. There is currently no cure for alpha-1 antitrypsin deficiency. However, appropriate treatment and a high standard of clinical care can prevent patients from being seriously affected and having to undergo major medical interventions, such as organ transplantation. Beyond managing the symptoms associated with alpha-1 antitrypsin deficiency, alpha-1 proteinase inhibitor therapy is the only treatment for the condition’s underlying cause. Early diagnosis is important to ensure efficient therapeutic strategies and to minimize further deterioration of lung function. alpha-1 antitrypsin deficiency is under diagnosed globally, partly because the disease has no unique presenting symptoms. This document was prepared by a Portuguese multidisciplinary group and it aims to set out comprehensive principles of care for Alpha-1 antitrypsin deficiency. These include the importance of registries, the need for clinical research, the need for consistent recommendations (regarding diagnosis, treatment and monitoring), the role of reference centres, the requirement for sustained access to treatment, diagnostic and support services, and the role of patient organizations.

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Policy recommendations for rare disease centres of expertise

Cited by 10 publications

References 12 publications

Living with a rare disorder: a systematic review of the qualitative literature

Living with a rare disorder: a systematic review of the qualitative literature

Carer reported experiences: supporting someone with a rare disease

Alpha-1 Antitrypsin Deficiency: Principles of Care

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