Exploration of transitional life events in individuals with Friedreich ataxia: Implications for genetic counseling

<p>Abstract</p> <p>Background</p> <p>Human development is a process of change, adaptation and growth. Throughout this process, transitional events mark important points in time when one's life course is significantly altered. This study captures transitional life events brought about or altered by Friedreich ataxia, a progressive chronic illness leading to disability, and the impact of these events on an affected individual's life course.</p> <p>Methods</p> <p>Forty-two adults with Friedreich ataxia (18-65y) were interviewed regarding their perceptions of transitional life events. Data from the interviews were coded and analyzed thematically using an iterative process.</p> <p>Results</p> <p>Identified transitions were either a direct outcome of Friedreich ataxia, or a developmental event altered by having the condition. Specifically, an awareness of symptoms, fear of falling and changes in mobility status were the most salient themes from the experience of living with Friedreich ataxia. Developmental events primarily influenced by the condition were one's relationships and life's work.</p> <p>Conclusions</p> <p>Friedreich ataxia increased the complexity and magnitude of transitional events for study participants. Transitional events commonly represented significant loss and presented challenges to self-esteem and identity. Findings from this study help alert professionals of potentially challenging times in patients' lives, which are influenced by chronic illness or disability. Implications for developmental counseling approaches are suggested for genetic counseling.</p> <p>Background</p> <p>Human development can be described in terms of key transitional events, or significant times of change. Transitional events initiate shifts in the meaning or direction of life and require the individual to develop skills or utilize coping strategies to adapt to a novel situation <abbrgrp><abbr bid="B1">1</abbr><abbr bid="B2">2</abbr></abbrgrp>. A successful transition has been defined as the development of a sense of mastery over the changed event <abbrgrp><abbr bid="B3">3</abbr></abbrgrp>.</p> <p>Transitions can be influenced by a variety of factors including one's stage of development, such as graduation from high school, historical events, including war, and idiosyncratic factors, such as health status <abbrgrp><abbr bid="B4">4</abbr><abbr bid="B5">5</abbr></abbrgrp>. Of particular interest in the present study are transitional life events, brought about or altered by progressive chronic illness and disability, and the impact of these events on the lives of affected individuals.</p> <p>It has been recognized that the clinical characteristics of a chronic illness or disability may alter the course and timing of many developmentally-related transitional events <abbrgrp><abbr bid="B6">6</abbr></abbrgrp>. For example, conditions associated with a shortened lifespan may cause an individual to pursue a career with a shorter course of training <abbrgrp><abbr bid="B6">6</abbr></abbrgrp>. Specific medical manifestations may also promote a lifestyle incongruent with developmental needs <abbrgrp><abbr bid="B6">6</abbr><abbr bid="B7">7</abbr></abbrgrp>. For example, an adolescent with a disability may have difficulty achieving autonomy because of his/her physical dependence on others.</p> <p>In addition to the aforementioned effects of chronic illness and disability on developmentally-related transitional events, a growing body of literature has described disease-related transitional events: those changes that are a direct result of chronic illness and disability. Diagnosis has received attention as being a key disease-related transitional event <abbrgrp><abbr bid="B8">8</abbr><abbr bid="B9">9</abbr></abbrgrp>. Studies have also noted other disease transitions related to illness trajectory <abbrgrp><abbr bid="B10">10</abbr></abbrgrp>, as the clinical features of the disease may require the individual to make specific adaptations. Disease-related events have also been described in terms of accompanying psychological processes, such as one's awareness of differences brought about by illness <abbrgrp><abbr bid="B11">11</abbr></abbrgrp>.</p> <p>While disease-related events are seemingly significant, the patient's perception of the events is varied. Some events may be perceived as positive experiences for the individual. For example, a diagnosis may end years of uncertainty. Some individuals may perceive these transitional events as insignificant, as they have accommodated to the continual change brought about by a chronic disease <abbrgrp><abbr bid="B12">12</abbr><abbr bid="B13">13</abbr></abbrgrp>.</p> <p>The aforementioned impact of disability and chronic illness on transitional events may create psychological stress. Developed by Lazarus and Folkman, the Transitional Model of Stress and Coping describes the process of adaptation to a health condition <abbrgrp><abbr bid="B14">14</abbr></abbrgrp>. This model purports that individuals first appraise a stressor and then utilize a variety of coping strategies in order to meet the stressor's demands <abbrgrp><abbr bid="B14">14</abbr></abbrgrp>. Thus, in the context of chronic illness, the ability of the individual to cope successfully with the stress of a health threat contributes to the process of overall adaptation to the condition.</p> <p>The process of adaptation can be more complex when the chronic illness or disability is progressive. Each transition brought about or altered by the disability may also represent additional loss, including the loss of future plans, freedom in social life and the ability to participate in hobbies <abbrgrp><abbr bid="B15">15</abbr></abbrgrp>. These losses may be accompanied by grief, uncertainty, and a continual need for adaptation <abbrgrp><abbr bid="B16">16</abbr><abbr bid="B17">17</abbr></abbrgrp>.</p> <p>Friedreich ataxia (FRDA) is one example of a progressive disorder, leading to adolescent and adult onset disability. To better understand patients' perceptions of key transitional events and the factors perceived to facilitate progression through these events, individuals with FRDA were interviewed.</p> <p>FRDA is a rare, progressive, neurodegenerative disorder affecting approximately one in 30,000 people in the United States <abbrgrp><abbr bid="B18">18</abbr></abbrgrp>. It equally affects both men and women. Individuals with FRDA experience progressive muscle weakness and loss of coordination in the arms and legs. For most patients, ataxia leads to motor incapacitation and full-time use of a wheelchair, commonly by the late teens or early twenties. Other complications such as vision and hearing impairment, dysarthria, scoliosis, diabetes mellitus and hypertrophic cardiomyopathy may occur <abbrgrp><abbr bid="B19">19</abbr><abbr bid="B20">20</abbr></abbrgrp>. Cardiomyopathy and respiratory difficulties often lead to premature death at an average age of 37 years <abbrgrp><abbr bid="B21">21</abbr></abbrgrp>. Currently, there are no treatments or cures for FRDA. Little is known about the specific psychological or psychosocial effects of the condition.</p> <p>FRDA is an autosomal recessive condition. The typical molecular basis of Friedreich ataxia is the expansion of a GAA trinucleotide repeat in both copies of the <it>FXN </it>gene <abbrgrp><abbr bid="B22">22</abbr></abbrgrp>. Age of onset usually occurs in late childhood or early adolescence. However, the availability of genetic testing has identified affected individuals with an adult form of the condition. This late-onset form is thought to represent approximately 10-15% of the total FRDA population <abbrgrp><abbr bid="B23">23</abbr></abbrgrp>.</p> <p>Health care providers of individuals with progressive, neurodegenerative disorders can help facilitate their patients' progression through transitional events. Data suggest that improvements should be made in the care of these individuals. Shaw et al. <abbrgrp><abbr bid="B24">24</abbr></abbrgrp> found that individualized care that helps to prepare patients for transition is beneficial. Beisecker et al. <abbrgrp><abbr bid="B25">25</abbr></abbrgrp> found that patients desire not only physical care from their providers, but also emotional and psychosocial support.</p> <p>Genetic counselors have an important opportunity to help patients with neuromuscular disorders progress through transitional events, as several of these conditions have a genetic etiology. Genetic counselors in pediatric and adult settings often develop long-term relationships with patients, due to follow-up care. This extended relationship is becoming increasingly common as genetic counselors move into various medical sub-specialties, such as neurology, ophthalmology, oncology and cardiology.</p> <p>The role of the genetic counselor in addressing the psychosocial needs of patients has been advocated, but rarely framed in the context of developmental events <abbrgrp><abbr bid="B26">26</abbr></abbrgrp>. Data suggest that patients may not expect a genetic counselor to address psychosocial needs <abbrgrp><abbr bid="B27">27</abbr></abbrgrp>. In a survey of genetic counseling patients, Wertz <abbrgrp><abbr bid="B28">28</abbr></abbrgrp> found a majority of respondents understood genetic conditions to have a moderate to serious effect on family life and finances, while almost half perceived there to be an effect on the spouse, quality of life, and the relationship between home and work. However, these topics were reportedly not discussed within genetic counseling sessions <abbrgrp><abbr bid="B27">27</abbr><abbr bid="B28">28</abbr></abbrgrp>. Overall, there is limited information about the experiences of transitional life events in FRDA, as well as a lack of recommendations for genetic counselors and other health care providers to assist patients through these events.</p> <p>Our study investigated perceptions of patients with Friedreich ataxia to 1) identify key transitional events and specific needs associated with events; 2) describe perception of factors to facilitate progression through the identified events; and 3) explore the actual or potential role of the health care provider in facilitating adaptation to the identified events. Data were used to make suggestions for developmental genetic counseling approaches in the context of ongoing care of clients with hereditary, progressive, neurodegenerative conditions.</p

Implementing Jet Aircraft Training in a University Setting: Instructor Perceptions and Lessons Learned

This paper presents the findings of a phenomenological study of instructor pilot first-hand experiences when conducting training for collegiate flight students in a jet aircraft. While jet training has been conducted in simulators in the past, this was one of the first instances of training in an actual aircraft. A total of 22 students completed training in a very light jet aircraft during the spring semester of their junior year at the subject university. A group of four instructors conducted both simulator and flight training with the students. Surveys were used to collect data from instructors longitudinally throughout the length of the 16-week semester. At the conclusion of the training period, participants completed a structured interview. The results of those interviews suggested that students excelled in areas such as avionics programming, use of standardized operating procedures, and checklist usage. Students were challenged by the increased operating speeds of the jet aircraft, descent planning, and lesson preparedness. The instructors offered suggestions to enhance the course and provided a summary of the lessons learned

New Criminal Law Review Symposium on Privilege or Punish: Criminal Justice and the Challenge of Family Ties

This symposium includes three review essays by Professors Doug Berman, Naomi Cahn, and Jack Chin. The review essays are focused on a recent book by Professors Dan Markel, Jennifer M. Collins and Ethan J. Leib entitled \u27Privilege or Punish: Criminal Justice and the Challenge of Family Ties\u27 (Oxford 2009). You can download the entire book for free at http://ssrn.com/abstract=1677503. In addition to the three review essays, the collection includes an essay by the book\u27s authors that serves as a reply to this set of critiques. Collectively, we are grateful to the New Criminal Law Review, which is hosting this collection in an upcoming issue. The essays are titled, respectively: Berman: Digging Deeper into, and Thinking Better about, the Interplay of Families and Criminal Justice Cahn: Protect and Preserve? Chin: Mandatory, Contingent, and Discretionary Policy Arguments Collins, Leib & Markel: (When) Should Family Status Matter in the Criminal Justice System

New Criminal Law Review Symposium on Privilege or Punish: Criminal Justice and the Challenge of Family Ties

This symposium includes three review essays by Professors Doug Berman, Naomi Cahn, and Jack Chin. The review essays are focused on a recent book by Professors Dan Markel, Jennifer M. Collins and Ethan J. Leib entitled \u27Privilege or Punish: Criminal Justice and the Challenge of Family Ties\u27 (Oxford 2009). You can download the entire book for free at http://ssrn.com/abstract=1677503. In addition to the three review essays, the collection includes an essay by the book\u27s authors that serves as a reply to this set of critiques. Collectively, we are grateful to the New Criminal Law Review, which is hosting this collection in an upcoming issue. The essays are titled, respectively: Berman: Digging Deeper into, and Thinking Better about, the Interplay of Families and Criminal Justice Cahn: Protect and Preserve? Chin: Mandatory, Contingent, and Discretionary Policy Arguments Collins, Leib & Markel: (When) Should Family Status Matter in the Criminal Justice System

Implementing Jet Aircraft Training in a University Setting: Instructor Perceptions and Lessons Learned

This paper presents the findings of a phenomenological study of instructor pilot first-hand experiences when conducting training for collegiate flight students in a jet aircraft. While jet training has been conducted in simulators in the past, this was one of the first instances of training in an actual aircraft. A total of 22 students completed training in a very light jet aircraft during the spring semester of their junior year at the subject university. A group of four instructors conducted both simulator and flight training with the students. Surveys were used tocollect data from instructors longitudinally throughout the length of the 16-week semester. At the conclusion of the training period, participants completed a structured interview. The results of those interviews suggested that students excelled in areas such as avionics programming, use of standardized operating procedures, and checklist usage. Students were challenged by the increased operating speeds of the jet aircraft, descent planning, and lesson preparedness. The instructors offered suggestions to enhance the course and provided a summary of the lessons learned