Although cinematic depictions of more common diseases have been the object of previous studies [34,35,36,37], to the best of my knowledge, this is the first descriptive analysis of the images of rare genetic disease in popular movies. Even though, compared to the total number of movies or those dealing with more common diseases, only a small number of films focus on rare genetic diseases,Footnote 1 it must be acknowledged that over time this number is slowly increasing. Simultaneously, the vast majority of analysed movies were either produced in the United States or in cooperation between the US and European or Asian countries. However, this should not surprise, as the American film industry has a dominating power on the global movie market and its impact on popular culture and the global audiences is distinctive [38, 39].
At the same time, it should be stressed that because the majority of movies do not explain the specificity of RDs and often lack a more detailed scientific information on the RDs discussed in the movies, their cinematic image is rather superficial and vague. Cosnequently, the educational role of movies on the clinical dimension of RDs is limited. However, this should not surprise, as the main aim of popular culture is to entertain the audience rather than to educate. Because film is also a commercial product which needs to find an audience in order to make a profit, most popular movies introduce RDs only by highlighting their symptoms without adding a more detailed description. Conseqeuntly, they often rest on simplifications and reduce the information about the genetic aspects of RDs to a minimum in favour of making the picture more attractive and dramatic. Moreover, rarely do they explain the genetic basis of the disease discussed in the movie, and the majority do not contain any scientific information on RDs. Finally, some RDs are presented inaccurately and/or incorrectly. Especially the older movies, such as The Boy in the Plastic Bubble, Mask or Jack provide the audience only with the most basic information about the RD discussed in the movie, such as its name, that it is rare, and of genetic origin. On the other hand, while the cinematic description of cystic fibrosis in Jack and Jill vs. the World or And I’ll Be Dead Tomorrow Noon or the Treacher Collins syndrome in Wonder is reduced to a couple of sentences expressed in scientific jargon, other movies, i.e. The Elephant Man, Crystal Heart or Simon Birch give no such information whatsoever (sometimes they even do not mention the name of the disease). What is also problematic is that many movies use RDs solely as a Hollywood teen love plot device. Thus, as they focus more on patients’ desire for the mundane pleasures in life [27] they romanticize the terminal character of the RD and somehow trivialize it (The Boy in the Plastic Bubble, Crystal Heart, Jack and Jill vs. the World, Midnight Sun or Five Feet Apart). Finally, while some movie explore caregivers hopes and struggle to find a test or drug, they often falsely paint a picture of a miracle cure (Lorenzo’s Oil).
However, this is not surprising because numerous studies indicate that cinematic depictions of common diseases too are often stereotypical, inaccurate and characterized by misinformation about symptoms, causes, and treatment. For example, people suffering from schizophrenia are frequently portrayed as unpredictable, violent, dangerous or committing homicide. Moreover, while the filmmakers tend to focus on hallucinations, traumatic events and violence, schizophrenic patients’ socioeconomic status is also unrealistic [36, 40,41,42]. The cinematic image of autism spectrum disorder is also very far from being an accurate, representative or useful one—the reason for this being that films often concentrate on the extreme features of autism and reinforce the negative stereotypes of persons with ASD either as ‘freaks’ or ‘geniuses’ who speak in a monotone or rhythmic manner and have all the expected tics. Simultaneously, high functioning forms of autism are given prominence [43, 44]. While there is a progression in the understanding of epilepsy in many movies, it continues to be associated with the supernatural. Thus, although its older associations with insanity, uncontrolled violence or victimization tend to normalize, cinematic depictions of epilepsy still refer to demonic or divine possession, genius, lunacy, delinquency and “otherness” [45, 46]. Finally, films related to cancer focus on uncommon cancers such as leukemia and brain tumors, while such common types of cancer as breast cancer are barely represented. Consequently, films portray cancer patient’s chances of survival inaccurately and in spite of the progress of cancer treatments they reinforce the stereotype of cancer as an incurable and lethal disease. Thus, it is suggested that popular images of cancer can instill carcinophobia, especially in that cinematic cancer often does not match the epidemiological data as filmmakers prefer younger patients and those from the higher social classes [47,48,49].
Nevertheless, some movies dealing with RDs contain “kernels of scientific truth” [27, 50]. In particular, Lorenzo’s Oil, The Mighty, Extraordinary Measures and Five Feet Apart, provide the audience with detailed scientific information about the diagnosis of the RD, its aetiology, signs and symptoms, the availability of genetic testing and management, including therapy and medications or recent breakthroughs in understanding the disease. Consequently, the painful realities of adrenoleukodystrophy, Morquio syndrome, Pompe disease and cystic fibrosis depicted in these movies are particulary reliable and may increase public knowledge on these diseases.
This study also confirms previous findings regarding the cultural representations of scientists which show that although especially in earlier movies there was a tendency of the vilification of scientists and the good scientists were in the minority, from the 1990s and 2000s onwards the cinema has seen the ascendance of heroic scientists, who are pictured as idealist and hardworking professionals. Thus, while Andrew Tudor’s [51], Roslynn Haynes [52, 53] and Sevan Terzian and Andrew Grunzke [54] showed that cinematic scientists are mainly framed either as foolish scientist-inventors or dangerous and deluded madmen, this research confirms observations from other research that suggest that in the twenty first century images of medical scientists are mainly positive. Thus, although still scientists are perceived in highly stereotyped, often unfavorable, ways, increasingly, they are framed as heroes [55,56,57]. Indeed, this research shows that in movies dealing with RDs physicians/scientists are mainly portrayed either as brilliant researchers who struggle to find a cure or as altruistic and empathic physicians and counsellors caring for their patients. Moreover, while the cinematic physician frequently fights the bureaucracy that impedes patients’ access to available drugs or novel treatment options, he or she is not an alienated or dull individual, but a dedicated and tireless hero struggling to help vulnerable patients. For example, while in Extraordinary Measures, dr. Stonehill is a hard-working and rational researcher whose revolutionary medical theories and innovative research help to develop an enzyme treatment for Pompe disease, dr. Fleming in Midnight Sun is pictured as a caring physician, who cares for a girl suffering from a life-threatening sensitivity to sunlight caused by a rare genetic disorder.
At the same time, even though the cinematic portrayals of RDs often do not reflect the current scientific knowledge, movies do take up some important topics in the field of RDs. Indeed, while biomedicine often focusses on the clinical aspects of RDs, movies highlight their ethical, psychosocial, legal or economic dimension, which are often overlooked in the scientific discourse. For example, while picturing experimental therapy for cystic fibrosis Five Feet Apart depicts patients’ experience with the disease, including coughing up blood, the inability to catch one’s breath, emotional distress related to anticipated death, patient’s dependence on the health system and the individual’s everyday struggle with hospital life. Similarly, both Lorenzo’s Oil and Extraordinary Measures show how deficits in scientific knowledge on RDs results in a confusing, chaotic, expensive and long-lasting diagnostic and therapeutic odyssey [58, 59]. They also illustrate how RD parents often become lay/self-experts on their child’s disease and the key players in the production of scientific knowledge. Moreover, although in both these movies the promise of a cure emerges, they also stress that RDs are too small to be easily funded and that finding a treatment is a time and money consuming enterprise. In Children of the Dark dr. Burnham while referring to the problem of orphan drugs explains to the parents of two girls suffering from xeroderma pigmentosum (XP) that it is not AIDS or cancer and therefore does not attract a lot of attention and that finding the cure for the RD may be ‘a billion dollars and generation away’. Thus, while movies often cover parents’ high hopes in research advances and their attempts to seek tests and drug trials, popular culture may help the public to understand how hard it is to handle the fiscal issues of RD drug development, how RD patients and their families struggle to get orphan drugs developed or how the bureaucracy impedes patients’ access to available drugs or novel treatment options. Simultaneously, movies like Lorenzo’s Oil or Extraordinary Measures stress the role of patient advocacy groups in RD research [60,61,62].
However, it is psychosocial issues related to RDs that are the most common tropes portrayed in the cinema. Indeed, all the analysed movies bring public attention to social stigmatization, isolation or discrimination resulting from patients’ rare genetic condition [63, 64]. Thus, while all the main characters in The Elephant Man, Sixth Happiness, The Mighty, Simon Birch, Wonder or More Beautiful for Having Been Broken experience prejudices, social exclusion and reduced life opportunities, in the movie Mask “Rocky”, who has craniodiaphyseal dysplasia, is also denied access to public school, and Jim’s daughters with XP in Children of the Dark refuse to organize their first sleepover with friends because ‘no one likes them’. Additionally, many movies emphasize that as a result of RDs the entire family faces stigmatisation, marginalization and discrimination from the neighbours, peers, work colleagues or local community.
Most movies also highlight how RDs affect patients’ entire life, influences one’s concept of self and become a source of self-stigma [65, 66]. For example, in The Boy in the Plastic Bubble, Tod, who suffers from severe combined immunodeficiency, becomes depressed after spending his entire life in incubator-like conditions, not being able to see the outside world and meet other people, and one day shouts loudly: “I’m so sick of it. I’m just feeling like a hospital case, like a weird kid who can’t even breath normally because I’ll get sick and die”. Similarly, the title character Alex, a girl with cystic fibrosis, confesses to her father: “This disease is getting much bigger than me… I have to do what it wants me to do… And maybe if I try to be its friend it would be so angry with me” (Alex: The Life of a Child). The Polish movie Ondine depicting the story of a young male suffering from congenital central hypoventilation syndrome who hides his disease from the girl he loves and who fears to reveal his condition to the outside world illustrates how disease invades every part of Cezary’s psychological self.
Another important theme depicted in movies includes the parents’ feelings of shock after receiving test results and their experience of self-blame [67, 68]. For example, both Michaela Odone in Lorenzo’s Oil and Jim in Children of the Dark expressed recurring feelings of guilt and a strong sense of responsibility for what had occurred to their children, and couldn’t stop blaming themselves for passing on “bad genes” to them. Finally, movies often stress how RDs affect family dynamics and relationships and creates tensions between spouses or between parents and their healthy children (The Mighty, Paa, Wonder, Children of the Dark).
