Portraying Rare and Misdiagnosed Diseases in Movies

This chapter examines the portrayal of rare and misdiagnosed diseases in 9 movies from 1980 to 2018. The analysis embodies the representation of rare diseases and the suggested audiovisual strategies to comprehend the message conveyed. Most of the movies introduced the disease by highlighting its symptoms. The binomial culture of cure and care often emerges, as well as the patient's desire for the mundane pleasures in life and over dependence in a health system. The high hopes in research advances and lack of information are majorly covered in the caregivers' attempts to seek tests and drug trials and their mediator's role in patient-physician interactions. The audiovisual strategies adopted vary between the accelerated montage to communicate the contrast between the frenetic side of everyday life and the patient's process of coping with the disease, deep focus from patients to parents, and close-ups to show the individual's reactions and perspectives.

Networks in Rare Diseases

Rare diseases are characterized by their low prevalence in a population, and since 1980 a social movement has gathered around this cause in many countries. In Brazil, the category of rare diseases emerged in 2000, culminating with the enactment of a National Policy geared at rare diseases. Rare disease patient organizations are the main actors of this social movement and since this is very recent in Brazil, this research was conducted to explore the topic. Using netnography as method, a content analysis of the Social Media Network Facebook was performed, aiming at understanding the way social movements have assembled around rare diseases and its role in portraying this type of diseases in Brazil. This chapter offers important insights into the way patient organizations are using social media to convey ideas and discourses, and to foster lay expertise on rare diseases.

Digital Media in Rare Diseases or “Knowledge Is Power”

This chapter focuses on the use of digital media by EURORDIS-Rare Diseases Europe and is specifically committed to understand its contribution to the awareness and diagnosis of rare diseases. To perceive the use of digital media and role in creating awareness of rare diseases, the contents of its website and Facebook page were analyzed. In specific, a promotional video of EURORDIS and a collection of 12 videographically documented stories from 2018 and 2019. The results show the use of various types of content and inherently practices, such as information, clarification, personalization, support, appeal, and empowerment, and of several rhetorical resources. In the dimension of pathos, the author finds elements that motivate awareness and inspire the receiver. Some elements of the logos used are credibility of sender(ethos), testimony (ethos), description of disease and identification of symptoms, exemplification and personalization, factual data, statistic data, and the use of metaphors and repetition.

Designing Sustainable Social Media Health Communication Campaigns for Promoting Rare Diseases

The third goal of the United Nations Sustainable Development Agenda aims to ensure individual's wellbeing and a long and healthy life. As such, health is perceived as an essential part of sustainable development. While progress has been made over the past decades, far too little attention has been paid to misdiagnosed and rare diseases. In the context of promoting “health for all”, communication is of uttermost importance. By means of a content analysis for selected rare disease campaigns, the present contribution seeks to highlight the way the UN's health goal is communicated as part of health campaigns for rare diseases. Amongst others, this chapter sets out to understand how the goal is communicated, which aspects are stressed, and whether there are differences in message strategies across different platforms relative to rare diseases. Ultimately, the potential of social media for communicating rare diseases is carved out. Research limitations and directions for future research are also addressed.

Neuropsychiatry in Late Onset Tay-Sachs Disease

The neuropsychiatric adult onset Tay-Sachs disease is relatively unknown. Although clinical features and mode of presentation are variable, there are common symptoms and signs of, for example, spinocerebellar atrophy, motor neuron disease, psychiatric disorder, and neuroimaging features of cerebellar atrophy. This chapter reviews the neuropsychiatric features of Late Onset Tay-Sachs disease, discussing possible interconnections between psychosis and the cerebellum in this disease. Understanding this interlink offers some important insights into the rarity of the disease that together with the diverse clinical onset and manifestations are responsible for a marked delay in diagnosis and even misdiagnosis. Genetic testing for the activity of Hexosaminidase A, prompted by the presence of cerebellar atrophy will establish the diagnosis. In all, the combination of cerebellar degeneration together with atypical psychiatric features is in line with the ongoing assumption that the cerebellum and its thalamo-cortical outflow are responsible for psychosis, and in particular, schizophrenia.

Public Media Coverage of Rare Diseases and Disorders

Rare diseases and disorders are, as the names suggest, a strange or unusual health condition, and so the coverage given by the media is not as extensive as it could be. However, researchers point out that this situation is changing little by little, and there is now more information about those who suffer from these conditions, and their experience. It is quite interesting to see how the public media, especially in the case of Spain, are making a great effort to give a voice and space to people affected by such diseases. In the case of public media, there are many other aspects to be considered. Firstly, the Spanish Broadcasting Corporation, Radio Televisión Española (RTVE) is not tied to private finance. Secondly, these channels are expected to be more independent and, subsequently, there may be no additional pressure to reach high audience share or obtain external funding from private media companies. This is especially interesting in the case of radio broadcasting, as it tends to be a medium with a high level of credibility, and closeness to the audience.

Challenges of Parents With Children With Rare Diseases in Portugal

This chapter makes known the reality of Portuguese families with children diagnosed with a rare disease. The parenting, romantic attachment, coping and emotional regulation strategies, resilience, and personality characteristics of parental figures are the main focus of research carried out in Portugal. In this research participated 160 parental figures (99 mothers and 61 fathers) between 22 and 81 years old. It was found that the existence of a child with a rare disease in the family can give rise to a set of disparate feelings, where the parental figures have to reorganize themselves internally and externally to respond to the needs of the child. It is important to develop intervention programs that address the needs of the parental figures underlying the act of caring.

How Is the Administrator's Experience in Managing Health Facebook Groups?

This decade, patients with chronic conditions take advantage of technological resources to share experiences, look for help, and get together in groups. Social media has become a productive spot of health information for users. This chapter clarifies the administrators' user experience of social media health groups within the context of the Inflammatory Bowel Disease (IBD). Semi-structured interviews with 7 Portuguese and Brazilian managers of Facebook groups were carried out. The authors propose a model of participation in online communities that take into account the variables of Presence–Interconnection between users in daily lives; Relationship–Aspects of experience where users meet; Reputation–Positioning of users related to the status; Groups–Relationship issues between members; Conversations – Extension of the user interaction; Sharing–Represents the exchange, distribution, and reception and Education–The information transmitted. Findings reinforced that administrators' groups use social media to lead patients´ empowerment.

Representation of Patients With Rare Diseases in Spanish Media

There are more than 360 associations of patients with rare diseases in Spain that strive for visibility to obtain funding and encourage clinical pathologies. The Spanish Year of Rare Diseases has been a considerable effort to be part of media agenda since 2013 and a “collective voice” throughout the media has been encouraged with the international initiatives devoted to the cause. Over the past years, representation of patients with rare diseases in Spanish media has been very superficial, despite the renewed interest during the Spanish Year of Rare Diseases. Certain cases as “Paco Sanz” or “Los Padres de la Pequeña Nadia” have negatively affected this representation by using the disease to pursue economic benefit. This chapter reports on the representation of rare diseases through Spanish media and the way it evolved in the last 6 years. The findings highlight the effort that has been made by patient advocacy groups with rare diseases and their relatives and caregivers, who have been recognized and proactive to get the treatment and medication needed.

Health-Related Communication and Rare Diseases

Rare diseases are often characterized as diseases with low prevalence in population that stem from genetic disorders or environment conditions. As a result of its low prevalence and lack of knowledge of its causes, symptoms, and/or treatment, patients' access to healthcare, and their quality of life may be affected. A key challenge is also the physician-patient interaction that differs from traditional medical care settings by demanding physicians' experience in dealing, for example, with psychological problems associated with the diagnosis process. Information and Communication Technologies can facilitate the interaction between the sources of information and patients, overcoming geographical distances. This chapter discusses the role of Information and Communication to extract health data in rare diseases and reinforce physician-patient interactions. It argues that Information and Communication are crucial to meet patients' needs, drivers, and decision-making that tend to occur during the patient's journey (pre-diagnosis, diagnosis, and post-diagnosis).