Search results for: Aaliyah Heyward

Authors: Kelsi Hagerty, Ami Rosen, Aaliyah Heyward, Nadia Ali, Emily Brown, Erin Demo, Yue Guan, Modele Ogunniyi, Brianna McDaniels, Alanna Morris, Kunal Bhatt

Abstract:

Hereditary transthyretin amyloidosis (hATTR) is a progressive, multi-systemic, and life-threatening disease caused by a disruption in the TTR protein that delivers thyroxine and retinol to the liver. This disruption causes the protein to misfold into amyloid fibrils, leading to the accumulation of the amyloid fibrils in the heart, nerves, and GI tract. Over 130 variants in the TTR gene are known to cause hATTR. The Val122Ile variant is the most common in the United States and is seen almost exclusively in people of African descent. TTR variants are inherited in an autosomal dominant fashion and have incomplete penetrance and variable expressivity. Individuals with hATTR may exhibit symptoms from as early as 30 years to as late as 80 years of age. hATTR is characterized by a wide range of clinical symptoms such as cardiomyopathy, neuropathy, carpal tunnel syndrome, and GI complications. Without treatment, hATTR leads to progressive disease and can ultimately lead to heart failure. hATTR disproportionately affects individuals of African descent; the estimated prevalence of hATTR among Black individuals in the US is 3.4%. Unfortunately, hATTR is often underdiagnosed and misdiagnosed because many symptoms of the disease overlap with other cardiac conditions. Due to the progressive nature of the disease, multi-systemic manifestations that can lead to a shortened lifespan, and the availability of free genetic testing and promising FDA-approved therapies that enhance treatability, early identification of individuals with a pathogenic hATTR variant is important, as this can significantly impact medical management for patients and their relatives. Furthermore, recent literature suggests that TTR genetic testing should be performed in all patients with suspicion of TTR-related cardiomyopathy, regardless of age, and that follow-up with genetic counseling services is recommended. Relatives of patients with hATTR benefit from genetic testing because testing can identify carriers early and allow relatives to receive regular screening and management. Despite the striking prevalence of hATTR among Black individuals, hATTR remains underdiagnosed in this patient population, and germline genetic testing for hATTR in Black individuals seems to be underrepresented, though the reasons for this have not yet been brought to light. Historically, Black patients experience a number of barriers to seeking healthcare that has been hypothesized to perpetuate the underdiagnosis of hATTR, such as lack of access and mistrust of healthcare professionals. Prior research has described a myriad of factors that shape an individual’s decision about whether to pursue presymptomatic genetic testing for a familial pathogenic variant, such as family closeness and communication, family dynamics, and a desire to inform other family members about potential health risks. This study explores these factors through 10 in-depth interviews with patients with hATTR about what factors may be contributing to the underdiagnosis of hATTR in the Black population. Participants were selected from the Emory University Amyloidosis clinic based on having a molecular diagnosis of hATTR. Interviews were recorded and transcribed verbatim, then coded using MAXQDA software. Thematic analysis was completed to draw commonalities between participants. Upon preliminary analysis, several themes have emerged. Barriers identified include i) Misdiagnosis and a prolonged diagnostic odyssey, ii) Family communication and dynamics surrounding health issues, iii) Perceptions of healthcare and one’s own health risks, and iv) The need for more intimate provider-patient relationships and communication. Overall, this study gleaned valuable insight from members of the Black community about possible factors contributing to the underdiagnosis of hATTR, as well as potential solutions to go about resolving this issue.

Keywords: cardiac amyloidosis, heart failure, TTR, genetic testing

Procedia PDF Downloads 97

Authors: Jodie Bradshaw, Rebecca Dooley, Habib Kadiri, Holly Bird, Aaliyah Felix-West, Udit Mahalingam, Ella Thomson

Abstract:

The sharp rise of civil orders has led to an expansion of police powers, particularly in the realm of stop and search activities. The broad scope and objectives of these civil orders –addressing issues as varied as public safety, crime prevention, and counter-terrorism – has led to ‘mission-creep’, whereby orders were being imposed in a wider range of contexts than initially intended. The ever-widening purview of civil orders in practice necessitates proactive measures by law enforcement which often rely heavily on the utilisation of stop and search, leading to an expansion of stop and search practices and the regulation of public space. Civil liberties organisations, criminal justice and legal practitioners, activist groups, and researchers have argued that civil orders dilute and undermine foundational legal principles, pose a threat to our basic rights and freedoms, facilitate dangerous criminal justice net-widening, and disproportionately target young, working-class people of colour. Many of the provisions in these orders are potentially incompatible with the right to liberty and security. The conditions of an order (whether negative restrictions or positive obligations) tend to be extremely easy to breach –and in some cases, almost impossible for the person subject to the order not to breach. When the conditions of an order are breached, the result is criminal punishment – often in the form of imprisonment. This paper argues that civil orders set people up to fail, sending them down a path towards incarceration and the ultimate deprivation of liberty. The proclaimed intentions underpinning these civil orders – to tackle purportedly ‘undesirable’ behaviour (which in and of itself is not a crime) committed by ‘undesirable’ people – paves the way for justifying violent and racially disproportionate policing practices.

Keywords: civil orders, policing, stop and search, crime, civil liberties, criminal punishment, anti-social behaviour

Procedia PDF Downloads 1