Early-Onset Hereditary ET Qualitative Study
Lauren Nicole Ahles, a graduate student in the Department of Biological Sciences, Program in Genetic Counseling, at Brandeis University, wrote her master’s thesis in May 2011 based on research involving eight individuals affected by essential tremor (ET). Titled “The Impact of Early-Onset Hereditary Essential Tremor on Affected Individuals: A Qualitative Study,” the study was structured in an interview format that prompted discussion of life issues as a result of the neurological condition.
She writes: Our study provided a detailed look into the lives of young individuals with ET, and the findings suggest that there are many functional and emotional issues surrounding this condition. The degree to which these issues impact those with ET may vary based on the individual’s age and age of tremor onset. Medical providers need to be aware of the multidimensional effects of ET, and genetic counselors may be able to assist in providing support and resources to individuals with ET.
This study, while limited in scope, proves interesting because of its focus on the qualitative aspects of life for people with early onset of ET. Study participants were recruited from ET support groups in Arizona and Virginia, ranged in age from 32-77 years-old, first noticed symptoms by the age of 30, and had at least one family member with ET.
In her thesis, Ahles comments on the social implications of ET and why it is important to study.
Tremor can cause both functional and emotional difficulties that may interfere with occupational tasks or cause social phobia. Manifesting symptoms of ET at a younger age may compound issues surrounding lifestyle choices and interactions with others, and the impact on this population needs to be studied.
Patients desire tailored information, shared decision making, emotional support, and empathy from their healthcare providers (van der Eijk et al., 2011). In order to offer this, it is important for healthcare providers to have a good overall understanding of the impact of disease on affected individuals. Previous studies have shown the many ways in which ET can cause distress and disability, but an in-depth study of the main issues from an affected individual’s perspective has yet to be performed.
Ahles suggests that the experiences recorded in this study can be used to better understand the impact of ET and aid medical professionals in providing better care and support.
The interviews examined the subjects’ experiences and issues on three primary themes: difficulties in social situations, restrictions and limitations; and adaptation, coping and acceptance. Ahles cites quotes from participants and states conclusions to support the themes and sub-themes identified. Subthemes included embarrassment and self-consciousness, struggle with everyday activities, false assumptions and labels, and support groups. Notably, Ahles identified a “positive outlook” as a key theme based on participant response.
“…several interviewees felt that there were many worse conditions than essential tremor, and said that they felt lucky that this is all they have. They compared ET to other conditions including Parkinson’s disease, Alzheimer’s disease and multiple sclerosis.”
In her closing remarks, Ahles notes that this limited study does not necessarily represent “the views and experiences of all individuals with early-onset hereditary essential tremor.” However, the study does shed further light on the key quality of life issues facing those with ET communicated in their words. The author suggests that considering such vantage points may prove helpful to healthcare providers intent on addressing the emotional challenges of patients, improving patient-centered care, and finding resources for coping and support.
Ahles later reflects on her personal and professional concerns as a genetic counseling student and as an individual with a personal and family history of essential tremor. Her grandfather has severe signs of ET; Ahles fears the probable progression of her tremor. The study has afforded the graduate student an opportunity to learn about the perspective and experiences of others, to help share their story, to take inspiration from their positive attitudes and to examine how more effective counseling and health provider care can meet the needs of those with essential tremor.