Legitimate suffering: a case of belonging and sickle cell trait in Brazil

Patient activism organizations are formed around and seek legitimacy via both biological and biographical identities (Fassin, in: Theory Cult Soc 26(5):44–60, 2009). In the case of sickle cell disease (SCD) in Brazil, two different modes of suffering authenticate the lived experience—one is based on the disease state, the other is based on the ways in which racial inequalities and disadvantage contribute to its own suffering while also entangled with disease-based suffering. SCD is a rare genetic disorder that affects red blood cells and whose hallmark symptom is pain. This paper places an ethnographic focus on the failed mobilization of suffering by an organization leader in attempts to make claims for inclusion. The leader’s social and biological identities of mother, sickle cell trait carrier, middle class, and mulata disrupted biosocial cohesion. This disruption reveals a hierarchy of suffering, where some indices of suffering are delegitimized. This hierarchy illuminates how exclusion and representation work within a patient organization whose membership embody both physical and social distress.

Assessing the Quality and Reliability of COVID-19 Information on Patient Organization Websites

This article employed a content analysis method utilizing the Centers for Disease Control and Prevention’s Clear Communication Index to evaluate the quality and reliability of 15 patient organization websites designed for patients to access information about COVID-19. The objective of this content analysis was to assess the clarity of online communication of information on COVID-19 by patient organizations by determining how well the websites score for clarity and identify ways to improve the websites. This study suggests that the patient organization websites that were analyzed are not adequately designed to communicate relevant information about COVID-19 in meaningful and effective ways. The findings from this study will help reveal major deficits in the communication of COVID-19 health information on patient organization websites, identify best practices and improvements that can be made to enhance communication, and build on existing literature regarding e-health literacy and clear communication on public health websites.

Patient quality criteria for a multidisciplinary integrated care pathway for von Hippel-Lindau syndrome.

e13534 Background: The objective was to establish a comprehensive set of patient-driven recommendations for specialists and allied healthcare professionals for the care of individuals with the multiple neoplasia syndrome von Hippel-Lindau (VHL). VHL patients require multiple surgeries during the course of their lifetimes, due to cysts and tumors in various organs including the kidney, brain, eye, spine, pancreas, adrenal glands, and broad ligament/epididymis. Screening and care from multiple specialists form the backbone of their care, yet this is rarely coordinated in an optimal manner. Methods: The Dutch VHL patient organization (Belangenvereniging VHL) initiated this process, and approached specialists and expert patients for input. Using components of consensus methodology, a 20-member multidisciplinary panel produced an integrated care pathway relating to the provision of care for VHL patients by patients, medical specialists, specialist nurses and allied healthcare professionals. Items were developed by 3 rounds of email correspondence in which the basis was formed for a consensus meeting which constituted the third round of review. The fourth and final round was an email review of the consensus output. Results: The panel agreed on recommendations for the optimal quality of care for VHL patients, in the form of a decision tree, which is supervised by a nurse specialist as a main contact point. These items were grouped under categories of "Diagnosis" and "Patient Pathway" and included recommendations on training, communication, and quality assessment as well as specific items related to VHL diagnosis clinics, non-academic treatment clinics, and follow-up survivor groups. The Netherlands has 3 official Expert Reference Centers for VHL care (Groningen, Utrecht, Nijmegen), and the patient organization and allied specialists are planning to publish this protocol, while implementing its practice in those 3 sites. Conclusions: Medical specialists (internists, endocrinologists, urologists, neurosurgeons, ophthalmologists, geneticists, etc) and specialist nurses play a vital role alongside allied healthcare professionals to provide care to people with VHL and their families. Yet VHL patients and their families are the experts most acquainted with their own unmet needs. We present a set of standards and consensus recommendations from the patient perspective for the roles for these practitioners to provide optimal VHL care. These recommendations could form the basis for facilitated development of comprehensive integrated pathways for any pleiotropic neoplasia syndrome, and represent best-practice collaboration between patient organizations and national expertise centers to provide value-based healthcare.

Validating online approaches for rare disease research using latent class mixture modeling

Background Rare disease patients are geographically dispersed, posing challenges to research. Some researchers have partnered with patient organizations and used web-based approaches to overcome geographic recruitment barriers. Critics of such methods claim that samples are homogenous and do not represent the broader patient population—as patients recruited from patient organizations are thought to have high levels of needs. We applied latent class mixture modeling (LCMM) to define patient clusters based on underlying characteristics. We used previously collected data from a cohort of patients with congenital hypogonadotropic hypogonadism who were recruited online in collaboration with a patient organization. Patient demographics, clinical information, Revised Illness Perception Questionnaire (IPQ-R) scores and Zung self-rating depression Scale (SDS) were used as variables for LCMM analysis. Specifically, we aimed to test the classic critique that patients recruited online in collaboration with a patient organization are a homogenous group with high needs. We hypothesized that distinct classes (clinical profiles) of patients could be identified—thereby demonstrating the validity of online recruitment and supporting transferability of findings. Results In total, 154 patients with CHH were included. The LCMM analysis identified three distinct subgroups (Class I: n = 84 [54.5%], Class II: n = 41 [26.6%], Class III: n = 29 [18.8%]) that differed significantly in terms of age, education, disease consequences, emotional consequences, illness coherence and depression symptoms (all p < 0.001) as well as age at diagnosis (p = 0.045). Classes depict a continuum of psychosocial impact ranging from severe to relatively modest. Additional analyses revealed later diagnosis (Class I: 19.2 ± 6.7 years [95% CI 17.8–20.7]) is significantly associated with worse psychological adaptation and coping as assessed by disease consequences, emotional responses, making sense of one’s illness and SDS depressive symptoms (all p < 0.001). Conclusions We identify three distinct classes of patients who were recruited online in collaboration with a patient organization. Findings refute prior critiques of patient partnership and web-based recruitment for rare disease research. This is the first empirical data suggesting negative psychosocial sequelae of later diagnosis (“diagnostic odyssey”) often observed in CHH.

Towards enhanced understanding of idiopathic ketotic hypoglycemia: a literature review and introduction of the patient organization, Ketotic Hypoglycemia International

Background Idiopathic Ketotic hypoglycemia (IKH) is a diagnosis of exclusion. Although considered as the most frequent cause of hypoglycemia in childhood, little progress has been made to advance the understanding of IKH since the medical term was coined in 1964. We aimed to review the literature on ketotic hypoglycemia (KH) and introduce a novel patient organization, Ketotic Hypoglycemia International (KHI). Results IKH may be diagnosed after the exclusion of various metabolic and hormonal diseases with KH. Although often mild and self-limiting, more severe and long-lasting IKH occurs. We therefore divide IKH in physiological KH and pathological KH, the latter defined as recurrent symptomatic, or occasionally symptomatic, episodes with beta-hydroxybutyrate ≥ 1.0 mmol/L and blood glucose < 70 mg/dL (3.9 mol/L), in the absence of prolonged fasting, acute infections and chronic diseases known to cause KH. Pathological KH may represent undiscovered diseases, e.g. glycogen storage disease IXa, Silver–Russel syndrome, and ketone transporter defects, or suggested novel disease entities identified by exome sequencing. The management of KH aims to prevent hypoglycemia, fatty acid oxidation and protein deficiency by supplying adequate amounts of carbohydrates and protein, including nutritional therapy, uncooked cornstarch, and sometimes continuous tube feeding by night. Still, intravenous dextrose may be needed in acute KH episodes. Failure to acknowledge that IKH can be more than normal variation may lead to under-treatment. KHI is a non-profit, patient-centric, global organization established in 2020. The organization was created by adult IKH patients, patient family members, and volunteers. The mission of KHI is to enhance the understanding of IKH while advocating for patients, their families and the continued research into KH. Conclusion IKH is a heterogeneous disorder including physiological KH and pathological KH. IKH may represent missed diagnoses or novel disease entities, but shares common management principles to prevent fatty acid oxygenation. KHI, a novel patient organization, aims to enhance the understanding of IKH by supporting IKH families and research into IKH.

Validating Online Approaches for Rare Disease Research Using Latent Class Mixture Modeling.

Background: Rare disease patients are geographically dispersed, posing challenges to research. Some researchers have partnered with patient organizations and used web-based approaches to overcome geographic recruitment barriers. Critics of such methods claim that samples are homogenous and do not represent the broader patient population - as patients recruited from patient organizations are thought to have high levels of needs. We applied latent class mixture modeling (LCMM) to define patient clusters based on underlying characteristics. We used previously collected data from a cohort of patients with congenital hypogonadotropic hypogonadism (CHH) who were recruited online in collaboration with a patient organization. Patient demographics, clinical information, Revised Illness Perception Questionnaire (IPQ-R) scores and Zung self-rating depression Scale (SDS) were used as variables for LCMM analysis. Specifically, we aimed to test the classic critique that patients recruited online in collaboration with a patient organization are a homogenous group with high needs. We hypothesized that distinct classes (clinical profiles) of patients could be identified - thereby demonstrating the validity of online recruitment and supporting transferability of findings. Results: In total, 154 patients with CHH were included. The LCMM analysis identified three distinct subgroups (Class I: n=84 [54.5%], Class II: n=41 [26.6%], Class III: n=29 [18.8%]) that differed significantly in terms of age, education, disease consequences, emotional consequences, illness coherence and depression symptoms (all p<0.001) as well as age at diagnosis (p=0.045). Classes depict a continuum of psychosocial impact ranging from severe to relatively modest. Additional analyses revealed later diagnosis (Class I: 19.2±6.7 yrs. [95%CI: 17.8-20.7]) is significantly associated with worse psychological adaptation and coping as assessed by disease consequences, emotional responses, making sense of one’s illness and SDS depressive symptoms (all p<0.001). Conclusions: We identify three distinct classes of patients who were recruited online in collaboration with a patient organization. Findings refute prior critiques of patient partnership and web-based recruitment for rare disease research. This is the first empirical data suggesting negative psychosocial sequelae of later diagnosis (“diagnostic odyssey”) often observed in CHH.

Scottish Health Technologies Group: enhancing patient engagement

Objectives The Scottish Health Technologies Group (SHTG) provides evidence support and advice to the National Health Service in Scotland on the use of new and existing health technologies, which, although not medicines, are likely to have significant implications for people's care. The purpose of this paper is to highlight the developments that have taken place in the SHTG's patient involvement processes in the years 2017 to 2019, focusing primarily on specific engagement with patient organizations and considering how the new approaches have been received by stakeholders. Methods Feedback from patient organizations that participated in the SHTG submission process, alongside SHTG committee members’ views on patient organizations contributions, was gathered primarily via online questionnaires. The number of times that patient organizations were invited and accepted the opportunity to peer-review SHTG advice statements prior to and after the employment of a Public Involvement Advisor (PIA) was analyzed. Results Completed questionnaires (n = 4) from three case study examples showed high patient organization satisfaction with their experience of the SHTG process. The feedback from SHTG committee members that was gathered indicated that patient organization participation was generally well received. The number of peer reviews from patient organizations for SHTG advice statements in 2018–2019 doubled to 86 percent of the total advice statements (n = 22), compared with 43 percent (n = 14) in 2016–2017. Conclusions Significant progress has been made toward improving the SHTG's patient involvement processes. A dedicated PIA post within the SHTG has allowed for a more tailored support to patient organizations and has encouraged their increased participation in SHTG processes.

The impact of end-userś participation (cancer patients) during the optimization process

End-user (e.g. patients or the public) testing of information material is becoming more common in the German public health care system. However, including the end-user (in this case patients) in an optimisation process and thus enabling a close collaboration while developing PIMs is still rare. This is surprising, given the fact that patients provide the exact perspective one is trying to address. Within the isPO project, a patient organization is included as a legal project partner to act as the patient representative and provide the patient's perspective. As such, the patient organization was included in the PHR approach as part of the PIM-optimisation team. During the optimisation process, the patients gave practical insights into the procedures of diagnosing and treating different types of cancer as well as into the patient's changing priorities and challenges at different time points. This was crucial information for the envisioned application of the individual PIMs and their hierarchical overview. Moreover, the developed PIM-checklist enabled the patients to give detailed feedback to the PIMs. With their experience of being in the exact situation in which the PIMs will be applied, their recommendations, especially on the wording and layout of the materials, have been a valuable contribution to the PIM optimisation process. In this part of the seminar, we will take a closer look at the following skill building aspects: What is gained from including patients as end-users in the development and optimization of PIM?How can we reach patients to contribute to a PIM optimization process? Which requirements and prerequisites do patients have to provide to successfully work on an optimisation team?How to compromise and weigh opinions when different ideas occur? Altogether, this part will construct a structured path of productive patient involvement and help to overcome uncertainties regarding a collaboration with patient organizations.