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This chapter further explores issues of patients' tenacity to shape science, through advocacy on an international level, and investigates the ways that making a disease public in Africa often entails locating it within discourses of humanitarian “crisis,” emergency, and global health prioritization. In this way, tireless patient advocates of African origin living in France created the sickle cell disease umbrella organization of the International Organization for the Fight against Sickle Cell (OILD), which succeeded in getting sickle cell anemia the attention of the World Health Organization and the United Nations in 2008. The OILD's strategy of making sickle cell visible to these multilateral institutions consisted of linking the disease to other pressing global health problems for development through means that often deployed uncertainty as “data.”

Although as recently as the 1970s patients had virtually no voice in FDA’s regulation of drugs, today patient advocates regularly use various administrative mechanisms to influence and even directly advise the agency on issues regarding drug development, access, and approval. This chapter explores a constellation of trends and events that underlie this dramatic shift, examines the current role of patients in drug regulation, and considers the future of patient-focused drug development.

In order to illustrate how advocates are mobilizing mutations today, this chapter delves into the patient advocacy network organized around 22q11.2 Deletion Syndrome. Activists still face a range of deep-seated obstacles—especially in fields that are resistant to genomic designation—leaving conditions like 22q11.2DS underrecognized and many patients undiagnosed. This chapter shows how 22q11.2DS advocates have made huge strides courting allies and expert-activists, advancing awareness among key constituencies, increasing detection, and building capacities. Drawing on the model of the Fragile X movement, groups like the International 22q11.2 Foundation have developed the knowledge and resources—including specialist clinics, local support groups, diverse research programs, a growing medical literature, and online resources for parent-advocates—that can transform patients’ lives. They have also sought to absorb the 22q11.2 duplication syndrome population into their ranks and add 22q11.2DS to newborn screening programs. With new historical conditions of possibility, the help of a new generation of genetic counselors, and established repertoires of social mobilization to draw upon, advocates have turned 22q11.2DS into a powerful category of human difference in certain fields and locales. Studying the 22q11.2DS network or "apparatus" therefore helps us understand what it takes to make mutations truly matter to patients and families.

What is the future for genomic designation? The first half of this chapter shows how next generation sequencing, new genomics databases, and social media have allowed researchers and advocates to discover, report, and mobilize mutations like NGLY1 and ADCY5 with unprecedented rapidity and efficacy. It also outlines the broader trends in biomedicine and patient advocacy driving genomic designation to become an increasingly powerful feature of modern healthcare and personal identity formation. But that is not the only emergent future for genomic designation. The second half discusses the demographic and ethical implications of non-invasive prenatal screening (NIPT) for genomically designated conditions. NIPT screening for poorly understood mutations forces prospective parents to confront deeply uncertain reproductive dilemmas. It also creates new opportunities and profound challenges for patient advocacy organizations. As more and more fetuses with mutations are detected, there will be a surge in ascertainment of conditions like XYY and 22q11.2DS. NIPT may therefore bolster the ranks of patient advocacy movements for genomically designated conditions even as selective abortion reduces their population prevalence and brings the specter of decentralized eugenics to the fore. Genomic designation will always be subject to biomedical developments and social forces that advocates cannot fully control.

This chapter looks at how patient advocates have intervened in cervical cancer policies to promote and enact the HPV test as the new “right tool for the job” in cervical cancer screening. By drawing upon an ethnography of a Swedish patients’ group, it provides a case study of patient advocates as key actors in the current fabrics and monitoring of healthcare policies. Focused on the interplay between “uninvited participation” and “evidence-based activism,” the chapter discusses how patient advocacy roles—“initiators,” “controllers,” and “influencers”—are enacted and sparked through policy-related patient activism. The author pays particular attention to how patient advocates translate “credentialized knowledge,” such as clinical guidelines, journal articles, and statistics, into evidence in support of policy change. The chapter develops the notion of “evidential objects,” used for analyzing the role of such material and textual objects in patient advocates’ mobilization of evidence.

At a time when patient and family engagement in health care is rapidly expanding, patients and patient advocacy groups have increasing opportunities to advance shared decision making (SDM). We suggest that patients and patient groups play a critical role in building capacity for SDM in two main ways. Firstly, patients and patient advocacy organizations can prepare patients and families for realizing their roles in the SDM process by utilizing patient and family networks to educate them about SDM. They can help patients become more informed for the trade-off process by clarifying key values and preferences related to specific conditions. Secondly, patients and patient advocacy organizations can serve as partners to health care organizations, researchers, and decision tool developers as they create SDM processes and tools that are patient-centered and likely to be adopted by patients and families. Integrating SDM into health care is necessary to achieve person-centered, high quality care.

In the second half of the twentieth century, disease advocacy evolved from universal campaigns to patients’ constituencies. Changes in the experience of health and illness and the nationwide expansion of political advocacy laid the groundwork for patient-led campaigns. Then, AIDS and breast cancer activists constructed a new type of disease advocacy on the foundations of the gay rights and women’s health movements. Unlike the earlier disease crusades, these movements were led by patients banding together to fight diseases that affected them personally, and they blazed a trail for patients suffering from other diseases. As patients’ activism became increasingly legitimate, disease nonprofits proliferated, patients took over congressional hearings, and disease walks and ribbons became an inescapable feature of American public life.

Patients can advocate for rights of self-medication in several ways. First, patients should be included in the process of drug development and should not be prohibited from developing and testing treatments on their own or privately funding medical research. Second, patients can use social media to advocate for access to new drugs and drug approval. Third, patients have a moral right to engage in civil disobedience and to illegally access and distribute pharmaceuticals. Fourth, citizens should support large-scale patient activism, such as the ACT UP and right to try movement. Fifth, officials should advocate for political reforms to protect patients’ rights of self-medication, even if such reforms lack democratic support.

This chapter analyzes ‘epistemic politics’: that is, the politics of knowledge production. It focuses particularly on the process of trans patient advocacy, looking at how individual interventions may contribute to collective efforts for discursive and material change. Drawing on examples from the depathologisation movement, it further examines how trans activists have sought to challenge the practitioner/patient power differential in both the micro-setting of the healthcare encounter and the macro-setting of medical discourse. It demonstrates that these challenges are most successful when trans knowledge are reproduced and established as credible through continual acts of mutual recognition and iterative citation across multiple spaces and contexts.

Founded in 1983, the Sjögren’s Foundation is the only nonprofit organization in the United States that has Sjögren’s disease as its sole focus. The efforts of the Sjögren’s Foundation are targeted to both patients and providers and include raising awareness of the disease, building community, providing education, and developing and disseminating both information and resources. Another priority of the Foundation is funding innovative research aimed at improving the understanding, diagnosis, and treatment of this complex disease. The Foundation approaches its work from a patient-first perspective as it continues to foster and grow a community focused on conquering the complexities of Sjögren’s.

Lisa Moreno-Walton, a Tulane University emergency physician, associate professor and medical educator, writes about her profession in Chapter 24, addressing three fundamental questions. Why do emergency physicians choose emergency medicine? What are the stressors? Her final question is addressed at the end of this power essay: How can I see what is worst about people and still retain my faith in humanity? The author wryly notes that emergency physicians (EPs) are like no other for their love of action and challenge, acute care, and the life and death of practicing medicine in “real time.” Emergency medicine provides exhilaration for those who seek and thrive in it. EPs must endure an extraordinary amount of pressure to perform. Answering her final question of how one deals with the bad as well as the good, Moreno-Walton talks about the need for perspective taking and doing so with humor and sufficient self-monitoring and the help of trusted colleagues.

Anaesthetic culture tends to view patients as physiological specimens to which pharmacological and technical procedures are applied and utilized to optimize various measurable parameters. However, this aspect is only one small part of a patient’s anaesthetic care. The medical model to which many anaesthetists still cling is very much a paternalistic one. Although terms such as ‘patient autonomy’ and ‘choice’ are frequently used, achieving these laudable aims in clinical practice remains elusive. Promoting patient autonomy and fostering a therapeutic relationship are areas of practice that have traditionally not been of direct concern to anaesthetists. The communication skills required to achieve this are centred on listening to what patients are really saying, and accepting the patients’ alternative, but sometimes radically different, view of the world. In addition, anaesthetists can use their understanding of this alternative view to communicate in a way that is likely to engender cooperation and trust. Language affects our patients, our colleagues and our own perceptions. This has profound implications in the practice of anaesthesia. Dissecting the anatomy of communication begins with a message between two or more people. This message can take many forms—for example, as a request for assistance or information, a command, advice, clarification, addressing a concern or the provision of reassurance. The message, superficially, is contained only in words. However, the meaning of the communication carried in the message is invariably far more complex. Spoken words are inevitably accompanied by pitch, volume and intonation, a facial expression and body posture. For example, take the six words ‘He anaesthetized that patient last Tuesday’. Box 2.1 shows six different meanings of this sentence. Each one is dependent on just one change in emphasis on how the words are said. The example demonstrates that with just one small change of emphasis in one word the entire meaning of the phrase can change. One can begin to imagine how many hundreds of pieces of information—probably thousands—are being passed on implicitly during any particular interpersonal interaction or communication. It is, of course, impossible to dissect every last nuance, but we can begin to understand some aspects of language and non-verbal cues in a way that will facilitate the accuracy of our communications.

This chapter examines the value of physicians’ experience in calling attention to rationing and its effects on the practice of medicine and the quality of patient care. Physicians’ position in direct patient care places them in a unique position to indicate when resources are too scarce, when the health care system becomes discriminatory or unjust, and when pressures brought to bear on them excessively compromise patient advocacy or excessively constrain their freedom to use resources to meet patients’ needs. Acting as a bellwether for such aspects, however, requires physicians to overcome several conceptual and practical difficulties.

Teamworking is an inevitable part of working within a complex multidisciplinary environment. Thankfully, most interactions with other members of the healthcare team will be positive and constructive. Unfortunately, such happy circumstances do not make for particularly interesting SJT scenarios. The following section is therefore full of colleagues that are angry, rude, dishonest, unprofessional, and even intoxicated. In Raising and Acting on Concerns About Patient Safety (2012), the General Medical Council (GMC) states that ‘all doctors have a duty to raise concerns where they believe that patient safety or care is being compromised by the practice of colleagues or the systems, policies and procedures in the organizations in which they work’. The GMC proposes taking the following steps in sequence when you develop serious concerns about a colleague: ● Raise the concern with ‘your manager or an appropriate officer of the organisation . . . such as the consultant in charge of the team, the clinical or medical director’. Alternatively, a foundation doctor may raise their concern with an appropriate person responsible for training such as their Foundation Programme Director. ● Raise the concern with a regulator (such as the GMC), professional body (such as the British Medical Association), or charity (such as Public Concern at Work). This step should be taken if you have exhausted options for raising the concern internally and there is an ‘immediate serious risk to patients, and a regulator or other external body has responsibility to act or intervene’. ● Raise the concern publicly. This step should be taken when you have exhausted options for raising the concern internally and have ‘good reason to believe that patients are still at risk of harm’. Your usual duty is to avoid breaching patient confidentiality. This is a highly unusual and significant step to take and is unlikely to be appropriate without first having taken advice from an appropriate organization such as the GMC, BMA, or Public Concern at Work. The questions within this section highlight your ability and willingness to work with team members. You will need to work collaboratively and respectfully within a multi- disciplinary team, as well as provide advice and support to colleagues.

This chapter situates the CCR5 gene, specifically the Δ‎32 allele, in the contexts of four distinct yet related enterprises- race and genomics, Big Pharma, personalized medicine, and personal genomics companies. Biocapitalism has fuelled the hopes of personalized medicine (pharmacogenomics), race-based medicine, and the Americans’ fascination with their genealogies. It turns out that various institutions, the National Institutes of Health, the Food and Drug Administration, Big Pharma, personal genomics companies, and patient advocacy groups all support pharmacogenomics but for very different reasons. This chapter discusses those different, and at times mutually exclusive reasons.

Personalized medicine remains an aspirational future state for the majority of diseases, but is the present state for rare diseases. As a result, the principles, practices, potential, and perils of personalized medicine are currently being realized in rare disease medicine, and we can look through the lens of rare disease at present and see the future for common disease personalized medicine. Personalized medicine endeavours to use in-depth genetic and environmental data to define a genotype–phenotype pairing that is based in definable physiological dysfunction and predicts treatment with a high likelihood of positive response. Rare diseases are defined and managed in just this way today. The experience of rare diseases suggests both exhilarating medical promise, and sobering operational and ethical realities, for personalized medicine of common diseases. Rare disease/personalized medicine can be just as effective as anticipated. But current medical systems, drug development, treatment, and payment paradigms are not well-suited to personalized medicine, and all will require adaptations for its promise to be realized.

Editor’s Note: Since not much was known about aniridia for many years some doctors did medical procedures that we now know should not be done on aniridic eyes. Please do not use any specific story here as a guide for your journey, since some of the medical procedures mentioned should not have been done. Furthermore, please make sure to see a doctor with experience and knowledge of anirida. Lastly, please keep in mind, each person’s journey has different medical issues. Not everybody will experience the exact same medical challenges in their journeys. Many people affected by aniridia go through similar experiences. Some deal with bullies differently than others, and some may have difference experiences with employment-related issues. Whatever experiences you have had in your life, these stories will show that you are not alone. Many others have felt and gone through situations similar to ones you have gone through. It is our hope that these stories inspire and help you with any struggles you may have now or in the future. I was born with a case of sporadic aniridia in 1976 in Maui, Hawaii, to my parents, Mike and Pat. I have one brother two years older who has normal vision, but my mom had a miscarriage of a girl with the same aniridia condition. I had a normal childhood, doing everything the majority of kids did, including soccer, Cub Scouts, body surfing, boogie boarding, and bicycling. In my early teens I competed in outriggered canoe racing. This was questioned due to my vision, but my six-man crew placed first in the state championship regatta. This experience inspired me to continue in the area of sports and enjoy them while testing my limits, which was done with cross-country running and track and field in high school. When I graduated from Maui High School in 1994, it was considered a great accomplishment by my parents and many teachers who had doubts about my learning abilities due to the inability to read the work written on the board.

This chapter is a collection of stories from those who do not let anything keep them from achieving their goals and who inspire us. These individuals show us there is hope and that anything is possible. My name is Eric, and I am 27 years old. I was born with familial (hereditary) aniridia. I also have nystagmus, beginnings of a cataract in my right eye, lens implant in my left eye, and corneal keratopathy in both eyes (but it is worse in my left eye). I am married to my lovely wife, Amber, and we have four children. They are: Joseph (ten years old), Sarah (seven years old), Aniston (four years old), and Christopher (two years old). The two oldest have normal vision and the two youngest have aniridia (how’s that for the law of randomization?). Currently, I work as a research assistant at the University of Florida as part of my doctoral degree. I also own my own company where I work as an occupational therapist with blind and low-vision individuals of all ages. Initially when I went to occupational therapy school, I was not interested in working with people who have vision impairments. Instead, I specialized in working with older adults. After working in the field for several years with older adults, I began to notice that many of my elderly patients had vision problems. Although I grew up with a visual impairment, I did not feel professionally qualified to address their vision issues because learning how to adapt to a visual impairment is different for someone born with a visual impairment than someone who acquires a visual impairment later in life. So I went back to school to gain additional training in working with people who have visual impairments. Part of my job as an occupational therapist is to evaluate patients for specific assistive-technology needs, recommend products that would increase their independence, and to teach patients with multiple disabilities how to use these devices.

Medical writers have gone through a period of soul searching, a reappraisal of our role as journalists and members of the fourth estate. Are we supposed to simply cover the medical news: the new findings, the “breakthroughs” that appear in medical journals? Or are we also supposed to serve as critics of medicine, uncovering corruption and wrongdoing like our colleagues who cover politics, the military, and business? When I started in this business in the early 19805, we medical journalists liked to talk about ourselves as translators. Our job was to sort through the medical journals, decide what was newsworthy, and then put the jargon of science and statistics into language that ordinary readers could understand. In the intervening years we've done a superb job of translating and conveying information. In fact, we might have done the job too well, because in simply reporting each newsworthy finding in the professional journals, the lay press has helped sell medical products and procedures to a public eager for good news about their health. The upshot is that we've inadvertently helped put a high gloss on medicine, rather than actually keeping the enterprise honest. As medicine has become increasingly commercial and political, medical writers have increasingly assumed the role of critic and watchdog. We still have to cover the medical news, but we also have to provide the social, political, and scientific context for each new finding. These days, getting a medical story right requires more than simply understanding molecular biology, or clinical trial design, or how to express relative risk versus absolute risk. Getting it right also means understanding the role that industry plays in driving medical science. It means questioning assumptions about how disease works. Do a Nexis search for the words “C-reactive protein” and “heart disease,” for instance, and you will find dozens of stories that say, in effect, that C-reactive protein (CRP) is the latest and greatest new predictor of heart disease. But what you won't easily find in all that ink are questions about whether CRP is any better than current predictors of heart disease, like serum cholesterol levels or stress tests.