Paper short abstract:

Patient registries are an unmet need in the globalization of haemoglobinopathies. This paper reflects on collaboration in a patient registry in-the-making in Austria; patients’ advocacy meet here with different perspectives of genetics, clinical routine, and medical anthropological curiosity.

Paper long abstract:

Patient and tissue registries are a pronounced space for “awkward collaboration” in Rare Diseases. Defined as organized systems that use observational methods to collect uniform data on a population defined by a particular disease, patient registries often assemble different perspectives and diverse goals. These spaces are addressed for scientific interaction, publication and career building, for establishing collaborative relationships, for generating sociability, gaining visibility and anchoring advocacy.

Patient registries are identified as a crucial yet unmet need in the progressing globalization of haemoglobinopathies by an international patient advocacy organization (IPAO). In central and northern Europe where haemoglobinopathies, autosomal recessive inherited blood disorders, notably thalassaemias and sickle-cell disease, are not endemic and case numbers are rare such basic information as the foothold for advocacy is missing.

This paper reflects on “awkward collaboration” in a patient registry for haemoglobinopathies in-the-making in Austria. It is a transdisciplinary collaboration where the IPAO’s agenda meet with the different goals and perspectives of genetics, clinical routine, and medical anthropological curiosity. The significance of Hb levels is not a given, and notions of ‘being healthy’ or ‘being normal’ and of consanguine relations are not keywords in common.

Paper short abstract:

Organ transplantation is a second promise to life and at the same time is the biggest depiction of altruism by humans. How do patients react when they have to give some extra blood to ascertain biomarkers to identify a potential graft rejection that will help other patients like them?

Paper long abstract:

The long hustle to catch hold of the patients for the blood sample collection required in order to determine the biomarkers that can ascertain graft rejection in the post-transplant patients often ends with taking home their melancholic visage that screams of wanting to say a hundred words, but not willing to give even a drop of blood.

The cumbersome process of Kidney Transplantation takes a toll on the patients and even on their families, and in that scenario, seeking blood, which the patients have seen getting lost in abundance, amidst the entire process, is an awkward collaboration, where the patients' personas are known through mere name slips on the blood vials.

In the ambitious quest of finding the biomarkers, we overlook the lack of benefit the current batch of patients are at due to the rigorous process of biopsies they have to undergo. They are just motivated by us to contribute for the purpose of research that will lead to an easy detection of graft rejection through the non-invasive dd-cfDNA biomarkers which is proposed to overthrow biopsy as the only gold standard for the assertion of graft rejection.

The patients agree to save others like them from shedding more blood. The altruism that these patients receive through a donated organ is thus believed by them to be reciprocated by the blood they 'donate' for 'our' research.

Paper short abstract:

Presenting research from Tampa, Florida, USA, this paper describes a collaboration with activity-based therapy—which is often considered deviant and riskier by traditional therapy—which can both challenge and reify the same ontological assumptions underlying the normative rehabilitation model.

Paper long abstract:

This paper describes how activity-based therapy—a therapy model often considered deviant and riskier by traditional therapy—can both challenge and reify the same assumptions underlying the normative rehabilitation model. Presenting research conducted in Tampa, Florida, USA, this paper describes the processes involved in bodily recovery for clients with spinal cord injury (SCI)—a condition that, due to the complicated structure of the spinal cord, can create diverse kinds of debilitation resulting in widely contrasting illness experiences. This particular population also includes people who: (1) encounter disability suddenly and traumatically, (2) often maintain hope for complete rehabilitation, and (3) have differing physical and social experiences due to the complicated structure of the spinal cord.

Theoretically inspired by Annemarie Mol, Michel Foucault, and Clifford Geertz, this paper uses a methodological framework that prioritises processes and how bodies, people, and other objects are enacted in practices constituted by ontopolitical negotiations. This allows for a discussion that sees health professionals as creating "bodies multiple" (Mol 2002), while allowing for an analysis attuned to uncovering those ontologies underlying everyday ethics (Geertz 1973:127). Rather than seeing this kind of ethnographic inquiry as outsider evaluations, this approach engages with the everyday processes and the images of thought which they reinforce, including types of normative identities as well as biocultural conceptions of hope, possibility, and well-being. This paper concludes with recommendations for how anthropologists might use these types of insights to not only critique these ontological politics, but show how collaborators could be brought in as 'co-conspirators' throughout these negotiations.

Paper short abstract:

Discussing collaborative research on chronic and rare diseases I want to bring a third game into play. Besides social scientists as one part and clinician and biomedical scientists as another the third part are people living with a chronic and rare disease and their families.

Paper long abstract:

My input goes back to my experiences as family caregiver for a close person with the rare progressive neuromuscular illness Amyotrophic lateral sclerosis (ALS) while living in the German speaking part of Switzerland. Recently I joined the Patient Advisory Council for ALS Patients Connected (APC) in the Netherlands. Primarily based upon my membership within this patient advisory council I see collaboration between both clinical and fundamental (lab, genetics and translational) researchers in ALS as well as biotechnology and pharmaceutical companies and ALS patient advocacy groups as pragmatic due to the need to find a cure. If I am asked to judge a research proposal from patient perspective I have to roughly understand the specific clinical, basic biomedical, biophysical and molecular neurobiological language in order to be able together with other members of the Patient Advisory Council to put forward questions relevant for people with ALS to researchers in ALS. From this point of view I would question the notion 'awkward'. People with ALS, family members, healthcare professionals and researchers, all of them have the same goal and are striving to find a cure. Nevertheless there are power differences and different emotional and existential involvements. Developing step by step research on informal care within the structure of ALS/MND (Motor Neuron Disease) multidisciplinary care my motivation is twofold: as a former caregiver for my lifelong partner and a medical anthropologist. In the actual phase of participating observation I realize that I am more engaged as an insider than as a researcher.