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Ripples from a stone skipping across the lake: a narrative approach to the meaning of Huntington's disease.

ABSTRACT

Huntington's disease (HD) is a progressive neurogenetic disorder that has a 50% inheritance rate. The ability to have 100% confirmation of the illness became a reality with the discovery of the gene in 1993. The effect of confirmatory testing and the issues faced by the individual and the family facing diagnosis have not been addressed. The purpose of this research study was to explore the meaning of being diagnosed with HD using narrative inquiry. Ten participants, during the first year of diagnosis, were asked to tell their story of what it meant to be diagnosed with HD. A holistic-content approach was used for data analysis. An integrated narrative, "The Story of HD: Ripples From a Stone Skipping Across the Lake," was created from the stories. The stories were analyzed for plot, predicaments, protagonist, and antagonist. The predicaments of "discovering the existence of HD," "confirming the diagnosis of HD," "revealing the diagnosis to others," and "experiencing the reverberations of HD" served as the main chapters that formed the structure of the stories. Each predicament contains a set of themes that function as subheadings for the chapters. In the final chapter or epilogue, participants were asked to reflect on the meaning of being diagnosed with HD. The psychological impact of receiving a positive genetic diagnosis has implications for patients and their extended families. Nurses should develop their understanding of the role of genetics in healthcare today. Clinical evaluations of the effectiveness of treatments and assessment for changes in mood, behavior, and motor function are an essential part of nursing care. Advocacy and supportive roles must be incorporated into the patient visit. Patient education material on home safety, nutrition, medication management, and general health practices should be provided during the outpatient visits. Through the development of a more comprehensive role, the nurse can assist patients and families in finding the personal meaning of being diagnosed.

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George Huntington, a physician in Long Island, New York, described a hereditary chorea in 1872. His accurate description of the clinical symptoms and inherited nature of the disease captured the essence of what healthcare professionals know today as Huntington's disease (HD). It is a progressive neurological disorder leading to impairment of motor control; impairment of coordination; imbalance; and impairment of memory, cognition, mental organization, and initiative. HD leads to death within 16 to 20 years of the onset. The possibility of facing a progressive illness is devastating on its own, but what makes this disorder even more overwhelming for affected individuals is the dominant pattern of inheritance of the gene. For an affected individual with children, the chance of the children inheriting the gene is 50%, and if found to possess the gene for HD, the child cannot escape the illness. Harper (1988) in his description of the disease stated, "the combination of progressive physical disability, mental involvement and its dominant inheritance possibly lay a greater burden on patients and their families than any other neurological disorder" (p. 2395).

The literature has focused on the impact of presymptomatic genetic testing for at-risk individuals but has not explored the larger impact of a positive diagnosis of HD on symptomatic individuals. Numerous researchers (Almqvist, Bloch, Brinkman, Craufurd, & Hayden, 1999; Decruyenaere et al., 1995, 1996; DudokdeWit et al., 1997; Larsson, Luszcz, Bui, & Wahlin, 2006, Mlynik-Szmid, 1997; Quaid & Wesson, 1995; Tibben et al., 1994, Timman, Maat-Kievit, Roos, & Tibben, 2004) have studied the psychological consequences of presymptomatic testing. The group at increased risk for HD had significantly increased stress and features of depression with the immediate impact and shock of results. Patients and their spouses had some initial period of adjustment followed by increased marital and personal distress by the 12-month evaluation. These research studies addressed only a small portion of the dilemmas faced by individuals who are contemplating undergoing, or who have undergone, genetic testing but do not address the meaning of that information for the individual and the family.

Method

A narrative inquiry approach was utilized to answer the research question, "What is the meaning of being diagnosed with Huntington's disease?" The unique issues surrounding being diagnosed with a chronic, progressive, genetic disorder were best explored through the stories of those affected. The nursing experience with narratives is deeply rooted in clinical practice. Vezeau (1994) stated that "nursing is no stranger to narrative; it has always been a part of how we explore the shared world of our patients" (p. 44).

Participants

Eleven participants who were diagnosed with HD within the past year were recruited to participate in the study. Five of the participants had symptoms for less than a year prior to diagnosis. One participant was excluded due to a concomitant diagnosis of multiple sclerosis. The final sample consisted of 10 persons who were clinically diagnosed with HD and who had genetic testing (Table 1). The participants were recruited from HD clinics, private neurology practice, and support groups. Patients were excluded if they had a major psychiatric disorder, a diagnosis of or at risk for another genetic disorder, or another chronic progressive disorder or were diagnosed more than 1 year before the interview. The average age of the participants was 48 years, with a range of 20-74 years, with 3 men and 7 women. Most of the participants were married, with half having children. All were Caucasian.

Procedure

Purposeful sampling method was employed to obtain a range of stories that capture the depth and breadth of the phenomenon. Participants were chosen based on the experience of being diagnosed with HD both clinically and genetically. Sample size was determined by data saturation. The research proposal was reviewed and approved by the institutional review board at Widener University. Each participant signed an informed consent. Most of the interviews took place in the participant's home. Two participants were uncomfortable with the researcher entering their home and preferred a telephone interview. After a brief demographic questionnaire was completed, the participants were asked to tell their story of what it meant to be diagnosed with HD. All of the narratives were tape-recorded and transcribed verbatim. Confidentiality was maintained with the use of pseudonyms and coding of data.

Data Analysis

Narrative analysis was performed using the holistic-content perspective guidelines of Lieblich, Tuval-Mashiach, and Zilber (1998). The narratives were read several times until a pattern emerged creating a focus for the entire story. From the multiple readings, the structure of the story emerged. The protagonist (main character), predicament (a situation, sometimes unpleasant, trying, or troublesome), and the plot (the main story) were identified. Themes and subthemes were identified. Noting the theme and the context that surrounds it supplied information about the importance and significance of that theme and the logical sequence of the story. The outcome of the analysis of all the stories was the development of an integrated narrative created from interpretation of the stories to give meaning to the experience (McCance, McKenna, & Boore, 2001). To maintain methodological rigor, peer debriefing and a dependability audit trail were completed.

Results

The stories were analyzed to discern commonalities and differences among the participants. Although the backgrounds and the specific events for each of the participants varied, there were common themes. The order in which the themes emerged had some variation among participants. The following discussion has been organized into the predicaments that presented in the stories. These predicaments, or situations, represent the structure of the stories. The arrangement of the predicaments and the themes contained within them directly reflects the presentation of the stories by the participants. In each story, the protagonist was the narrator and the antagonist was HD. The plot was the discovery of the meaning of HD through which the predicaments presented themselves.

The beginning point of the stories varied. For 8 participants, the salient moment about which they chose to begin the story was the experience of discovering that HD existed in the family; others began their story discussing the reverberations of HD that occurred after they or a loved one was diagnosed. The way the participants described their experiences of being diagnosed with HD was similar to a stone skipping across a quiet lake; the resulting ripples were the reverberations that affected their lives. Thus, this metaphor is an apt title for the story of being diagnosed with HD. In the course of their experiences, the storytellers found themselves in a series of predicaments that describe the process of being diagnosed with HD. Taken together, these predicaments serve as the main chapters that form the structure of the story of being diagnosed with HD. Within each predicament, themes emerged. The themes served as subheadings for the chapters. Finally, the participants were asked to reflect on the meaning of being diagnosed: Their reflections are the epilogue to the story.

Chapter I: Discovering the Existence of HD

For most participants, the discovery of the existence of HD first surfaced when they realized that something was awry with their relative. The term Huntington's disease, however, was not present in the participants' vocabulary. The existence of this disorder was a new entity. For these participants, discovering the existence of HD brought with it an array of emotions. Throughout this process, the participants experienced emotions ranging from shock, surprise, frustration, isolation, relief, and a sense of "rallying together" for a common purpose. Several of the stories clearly illustrate the secretive nature of the disease. Many families did not talk about having HD in the family and the impact of this disease on the affected individual. Upon researching family histories, many of the participants discovered a history of affected relatives.

Keeping the secret

For some families, the knowledge of HD was kept a secret. The rationale behind this decision was multifaceted. It may have been based in denial that others might not be affected, the information was difficult to convey to others, or other family members only needed to know when they became affected. The secretive nature of this disease was well explicated through Donna's story. Donna did not know that HD was in the family until she had to deal with her mother's symptoms. Donna said.
   It was a secret until I was an adult and
   my mother's symptoms had already
   progressed.... We started getting her checked
   out, and getting her to doctors, and trying to
   figure out what was going on, and finally,
   somebody said Huntington's, and we tested
   her for Huntington's, and she had it. Come to
   find out that her dad had given it to her, and
   her dad had five brothers and one sister,
   and all five of the brothers had HD.


Receiving shocking news

New mutations, paternity issues, early death of parents, or infrequent contact with extended family lead to the lack of knowledge about HD. Bradley did not know that HD was in the family. He told his story of shock and surprise finding out his younger brother, with whom he lost contact, was diagnosed with HD. "My mother had a health crisis, and my brother's wife called me to tell me about it, and in the midst of that conversation talking about my mother, she told me that my brother had HD." Upon urging from his sister-in-law, he went to the Internet and researched information because he was also at risk. At age 57, Bradley thought his chances of getting HD were low, but the symptoms he was "blowing off as stress" took on new meaning, and he went for an evaluation and was diagnosed with HD.

Finding purpose

Families may respond in a variety of ways once the news of HD is shared. For Ilene's family, coming together for a common cause gave them a purpose and allowed them to "help" in some way. When Ilene's mother was diagnosed with HD, the family responded by donating blood to help with the search for the gene. In 1983, when linkage analysis was available, Ilene's older sister underwent testing. She was gene negative.

Chapter II: Confirming the Diagnosis of HD

The second predicament of the story was confirming the diagnosis of HD. When the participants were asked the question of what it means to be diagnosed with HD, many of them included presymptomatic testing as part of the diagnostic process. Confirmation of "the problem," whether it was their own diagnosis or presymptomatic testing, drove the participants to local physicians and national HD centers. The testing established the truth that many knew in their hearts; they harbored the gene for HD. For some of the participants, the diagnosis validated the symptoms they were having as real. For others, knowing the diagnosis of a positive gene status allowed them to move forward in their lives.

The decision to confirm the diagnosis of HD or their at-risk status often came after a pivotal event. For several participants, seeking a diagnosis was related to symptoms they were experiencing. For others, knowing helped them plan for the future. Four of the participants discussed a foreboding sense that they would be the person in the family to develop HD. Participants who did not have a known family history of HD were less likely to think that they had HD.

Having control

Three of the participants, Ilene, Frances, and Donna, shared their thinking processes with the researcher as to why they underwent presymptomatic testing. Ilene told of how the knowledge of a diagnosis helped her plan her life. The theme relayed by the 3 of them was a sense of control. Frances' story depicts her, Donna's, and Ilene's sentiment.
   I would rather know than not know. I figured
   if I knew I would have more control, I would
   be able to prepare better in terms of going
   ahead and getting insurance and looking into
   whatever clinic trials are out there.


Heeding the premonition

For Donna, Anna, and Ilene, the diagnosis of HD did not come as a shock but rather a confirmation of the "little voice" inside each of them that predicted that they would have the gene for HD. Donna summed it up by stating that she "kind of knew a little bit that I had it."
   You know, it was just so weird, when we found
   out about it [HD], and we found out we could
   get it, one of us, you know, I just always thought
   I would be the one to get it, you know. It was
   just a really strong feeling I had.


Searching for the answer

The experience of being evaluated for HD varied based on whether the participant attended a large university-based center for HD or a private neurologist's office. Bradley underwent testing at a large center. He believed that he had passed the neurological and psychological assessments "with flying colors." He thought that the results would be negative.
   I felt a little bit down in spite of the way that
   I tried to behave in front of the doctor and the
   counselor, and I didn't want to show any
   negatives in front of them. But my wife turned
   to me and said, "Based on that CAG number
   [DNA repeat sequence] and the possible
   progression of the disease, you are exactly the
   same person you are today that you were
   yesterday, and you will be the same person
   tomorrow, and next week, and next year, and
   for a lot of years to come." That was a very
   comforting thought. My life had changed, but
   I hadn't changed.


Jena's search for the answer began when her mother was diagnosed with HD. She had started presymptomatic testing but moved to another state. In Arizona, she made an appointment to resume the presymptomatic testing protocol. At her initial appointment with a general physician, she mentioned that she wanted to be tested for HD. The physician did not follow the protocol but drew her blood and sent it to the laboratory. Three months later, he called her at work and told her the results.
   I was screaming my head off, and half the
   company was back there by the time I hung up
   the phone and everybody's standing around
   looking at me, and I was thinking, oh my god.
   That was the most horrible moment in my life I
   think, I can't think of anything that was worse.


Ending it all

Knowledge of HD in the family brought a host of emotions. Thoughts of suicide seemed like a reasonable alternative to living a life of progressive debilitating disability. Jena found this to be true in her family. Her affected grandmother committed suicide when Jena was 5 years old. Jena said that the reason that her grandmother committed suicide was her fear of being placed in a nursing home. Jena's mother was also adamant about not being placed in a nursing home. Jena's mother died in 1993 when she drowned in the family pool. Jena believed that her mother's death was a suicide to avoid being placed in a nursing home. Ilene and Carolyn shared the story surrounding their suicide attempt. Carolyn summarized her feelings on suicide:
   And you know, suicide is something that I
   think about all of the time because it's the way
   I'm going. I'm not going to a nursing home.
   So I always have a plan.


Suicide was not a consideration for Donna. She stated that she wants to have the fortitude of her mother during the end stages of the illness. She sees suicide as a "way out." Donna talked about " coming into the world alone and leaving alone." However, she stated she would stick with the illness to the end.

Chapter III: Revealing the Diagnosis to Others

Because of the secretive nature of families with HD, the participants spent time telling their stories about revealing their positive diagnosis to others. The word revealing carries with it a negative quality of laying oneself open to view (Webster's II New College Dictionary, 2005). Divulging this information exposed the participants and their families to scrutiny and judgment. Often, the decision to tell others did not come easily.

The act of revealing a positive diagnosis evoked emotions for both the teller and the recipient. For the narrator, decision to share the information was always placed in the context of protecting the recipient. There was concern about the reaction of the receiver. Two of the participants expressed sadness for the family member receiving the news. Participants also talked about the negative consequences that occurred after the diagnosis was revealed.

Denying the devil

For the narrators, HD is often viewed as the devil possessing an individual. The choreiform movements and behavioral outbursts were often seen as being out of control of the individual. Denial was a mechanism used by Anna and Jena. Once Jena received her genetic diagnosis, she withdrew from the Huntington's Disease Society of America (HDSA). She felt that the meetings were too depressing.
   It was just easier to kind of just, you know,
   as much as I never wanted to live like my
   mother, it was much easier just to live in
   denial of it until everything started catching
   up with me.


Jena, like the "witches" of Salem, withdrew from society to protect herself and hid the symptoms of the devil. At that time in her life, she began working with the therapist and started antidepressant therapy. She felt it was time to "get my act together" and stop denying the devil.

Protecting the recipient

The participants had great concern about how the recipient of the information would respond whether it was family, friend, or coworker. They took time to determine who they would tell, what information they would share, and the timing and circumstances of the information. Ilene talked of her mother's concern about which of her children was going to be diagnosed with HD. Ilene's mother was happy to find out that Ilene's sister was not at risk.
   When I went and got tested, I didn't even
   want to tell them I was getting tested because
   I knew how that would affect her. So I tried to
   hide it from her, and then when I finally got
   tested and got the results, I called them and
   told them. They were on vacation up in New
   York at the time, and so I figured that was a good
   thing to do because she was there with her
   father and with her brothers and sisters and
   all visiting, so I figured that would be the best
   place to find out.


Feeling abandoned

Responses of indifference and lack of support were experienced by both Glen and Kathy. They were both met with avoidance and denial. Kathy's story ended with her family's response to her diagnosis. Kathy's sisters were not initially supportive. When Kathy would mention HD, they would either not want to talk about it or "blow it off." If she would talk about symptoms, her sisters would just say that those symptoms happen to them as well. Kathy's sister told her that she has prayed about this, and she knew that none of the siblings would get HD. She also said that if any of the siblings were having symptoms, they would not progress.

Kathy had told a few people about her diagnosis. Her best friend came with her for the testing. She had also shared her diagnosis with her coworkers because of her movements. She had never explained things in detail. Her neurologist instructed her not to disclose her diagnosis. She had also shared information with her boss. She waited to be tested until all of her financial and insurance matters were resolved. She did not think that, at 35 years old, she would be dealing with disability.

Chapter IV: Experiencing the Reverberations of HD

For the narrators, the introduction to HD affected their lives metaphorically, the way a stone skipping across a lake affects the stillness of the water. Each had personally encountered the reverberations or aftershock of a positive diagnosis on their family and their own lives over the course of time. The ripples have affected the way in which the participants view themselves, their role, and their future.

Living with the devil

As previously noted, HD has often been referred to as the "devil's dance." For those caring for a parent with HD, the exhibited behaviors, including anger and rage, can seem like the devil. Donna spent time reflecting on caring for her mother after she was diagnosed with HD. Donna and her family mourned every loss her mother went through. She described it as an "emotional roller coaster" that progressively got worse as her mother's symptoms progressed. Her mother's response to her illness was denial. She did not want to talk about the illness or the treatments she wanted. Donna stated, "She just wanted to be left alone."

Frances continued her story talking about her father's diagnosis with HD. His symptoms began about 1 1/2 years before Frances left the house. He was very aggressive at that time. Frances did not realize until she underwent her own evaluation that the HD made her father and grandfather behave the way they did. She proceeded to explain:
   More so towards my mom than me, but it's hard
   to sit there and say, oh my gosh, this is the
   disease; I need to not be mad. Or I don't need to
   react. Because you're just, you're seeing it as
   him doing it, you're not seeing it as the disease.


Upon reflection, Carolyn recognized that mental illness was very difficult for anyone to deal with because there are so many stigmas associated with it. Carolyn's comments reflect the complicated nature of HD affecting cognition, emotions and behavior, and movement.

Losing independence

Although the participants have used their skills to adapt to the symptoms, many suffered the loss of independence because of worsening neurological changes. Ilene reflected on the progression of her symptoms and how it affected her work as a nurse. She would lose her notes and charts. Once she found the chart, she had difficulty organizing her thoughts to write a coherent note. Her neurological symptoms progressed to the point that they affected her ability to work.
   I used to be able to just do my work like a
   super nurse, and the past couple of years, I've
   just slowed down, you know, and not like
   work at the speed that I used to or the mental
   thought process, you know, that I used to have.


Since being diagnosed with HD, Anna told how having HD had affected her. "Every time I fell, I would be mad at myself for not paying more attention. People treat you as if you are going to fall all of the time. They hover over you and are worried because your coordination is bad." Anna stated, "I can't do lots of things." She had become more dependent on the help of her significant other. Her recent discovery that she could no longer wrap presents or help with holiday cooking had discouraged her. "I don't like depending on someone else to help me. I wished I would have planned better since I thought I might get HD. I would've done my financial things differently. Now I have to depend on Robert for that as well."

Adapting to change of others and self

Changes in physical, psychological, and cognitive abilities forced the participants to modify their lives. Sometimes the changes occurred in a way of thinking. Family members also went through an adjustment period to the diagnosis. Donna discussed her change in thinking about children. Her decision not to have children was reflected in her interactions with her sister's children. Donna's sister had been tested for HD and was gene negative. Donna was very excited over that news. Her sister has three children but still finds the time to be supportive of Donna. Donna spends time with her sister and her family. She uses the time with her sister's children to get her "kid fix" after her conscious decision not to have children.

Jena was not surprised by her positive gene diagnosis. She stated that she felt hurt. Through the work with her therapist, she felt that she had been depressed for a long time. She also recognized that she had some form of self-medicating behavior.
   At that point in my life, I had lived like I was
   going to have Huntington's, and neither one of
   my sisters lived like they would ever have it.
   I lived like I'm going to do everything in my life
   today and as loud as I can do it and as long as
   I can do it because if this ever slows me down,
   then I'll never have a day where I can say I
   didn't live life.... But I lived every day of my life
   like I was going to have Huntington's at some
   point. I kind of figured if I went ahead with the
   testing and found out that I didn't have it, I could
   stop living like that, but the worst thing that
   could happen is that, you know, I was going to
   continue living like I was already living.


Creating hope

Within the world of adjustment and change, Jena talked about her disappointments and hope for the future. When Jena went to her first HDSA convention in 1993, the presenters announced that they would have a cure for HD in 5-10 years. At her last convention in 2003, they again said a cure would occur in 5-10 years. She stated,
   At that point, I was just having a hard time
   dealing with the fact that they hadn't found a
   cure yet when they said it would take 5 to
   10 years, and now I've been diagnosed [with
   the gene] 2 years earlier.


She was concerned that if it takes another 10 years, the cure may not occur in her lifetime.
   I really think they are going to find something
   there that is going to help and if they can
   find anything that will just stop the progression
   of the disorder until they can come back in
   and figure out a way to revive those cells and
   that are gone or replace them.


Epilogue: Reflections on the Meaning of Being Diagnosed With HD

At the conclusion of the participants' stories, they were asked again what it meant to be diagnosed with HD. Although most of the participants could articulate what it meant to be diagnosed with HD, the answer was often embedded throughout their story. The meaning of being diagnosed with HD for the participants encompassed adaptation in thinking and decision making. Each participant had been faced with many decisions since their diagnosis. These decisions were weighted against the participant's current abilities and the future impact of HD. As a result, the participants had begun the process of adapting to adjust to the new circumstances.

The resolve to "do something" and find purpose once they were diagnosed provided meaning in the lives of Bradley and Glen. Bradley's purpose became to improve his own health through supplements and contribute to research as a volunteer. Glen's purpose was to live life as he had, but with attention to being a "better person." Through these actions, Bradley and Glen have found meaning in their lives.

Meaning for Kathy, Ilene, Anna, and Harry involved losses that they have or will have experienced in their lives. Losses of functioning, independence, future goals and dream, and employment have been experienced by all of the participants. For these participants, the losses they experience are part of their day-to-day reality.

Discussion

According to Holloway and Freshwater (2007), stories can be a useful method for individuals to make sense of their lives and construct their versions of reality and identity. Through narrative, people have the opportunity to share their emotional experiences. The purpose of this study was to discover the meaning of being diagnosed with HD. The results of this study show that the experience of being diagnosed with HD is filled with a host of emotions. The patients go from discovering the existence of HD to the continual process of adaptation. Throughout the journey, the patients experience a myriad of emotions including shock, fear, frustration, surprise, rallying together, and hope.

For most of the participants, discovering the existence of HD was the starting point of their story. Etchegary (2006) interviewed 24 persons at risk for HD and found four different scenarios in which participants discovered HD in the family. The four trajectories were "something is wrong, out of the blue, knowing but dismissing and growing up with HD" (p. 115). For the participants in the current study, these trajectories hold true.

Because of the nature of HD, many families chose to keep the illness a secret. This silence by knowledgeable family members often led to frustration of the participants as they searched for an answer to their loved one's medical condition. Affected members may have struggled with the responsibility of sharing this information to foster health versus burdening family members (Klitzman, Thorne, Williamson, Chung, & Marder, 2007). The task of sharing this type of information is often difficult and leaves one vulnerable.

The desire to have control through diagnosis may be rooted in many issues. Control can come in many forms including having relief from uncertainty and self-monitoring; planning for the future, including marriage, children, and employment; participating in healthy behaviors, including better nutrition and supplements; or participating in research studies to help others (Loveland, 1999; Williams, Schutte, Evers, & Forcucci, 1999). For HD, the lack of available treatments leaves the individual to face the onslaught of physical, cognitive, and behavioral changes that will occur over time. In addition, watching their parent lose both psychological and motor control may increase the at-risk persons' efforts to gain control of their lives in other ways. Finally, by undergoing presymptomatic testing, the individuals choose the time and place that they discover their gene status.

Jankovic, Beach, and Ashizawa (1995) did one of the few studies examining the emotional and functional impact of DNA testing on patients who were symptomatic with HD. They found that a few participants experienced surprise, frustration, and devastation, but most patients did not display any significant change in mood, function, or behavior. Phillips (2006) also found that a diagnosis of Parkinson's disease could be characterized as a "moment in one's life as a point of maximal experiential incoherence, filled with reaction of shock, disbelief, bewilderment and despair" (p. 367). Individuals facing HD experience the impact of genetic testing on two separate occasions. The first occasion may be when the individual's parent is diagnosed with HD. At that point, the individual experienced the "shocking news" that HD had infiltrated the family. The second time that they face genetic testing is to determine their own genetic status.

Searching for information can occur through a variety of resources, including the Interact and books. The information found on the Interact painted a bleak picture. With the possibility of death 15 to 20 years after diagnosis, coupled with a progressive debilitating life and no immediate chance at a cure, descriptions of HD did not give much hope for a productive fruitful life. Family members were also questioned about HD and the impact on the extended family. Seeking information about a diagnosis has been supported in the literature. Phillips (2006) found that patients with Parkinson's disease chose to become informed about their disease after they received a positive diagnosis. They turned to healthcare professionals and support groups for information. Similarly, Dawson, Kristjanson, Toye, and Flett (2004) found that information was essential to coping with HD. They also found that the amount, type, and timing of information affected the level of stress families experienced.

Support groups and educational materials are available at both the local and national level through the HDSA. Support is also available via the Internet in chat rooms, bulletin boards, message boards, and Yahoo groups. Van Uden-Kraan et al. (2008) found that persons who participated in an online support group became empowered through having emotional support, sharing experiences, and helping others. This process may help individuals gain more confidence in negotiating the healthcare arena (van Uden-Kraan et al., 2008).

With the advent of genetic testing, researchers and philosophers alike have struggled with the concerns of offering genetic testing for disorders for which treatment was not available (Almqvist et al., 1999). The concern raised was that a positive result may lead to increased depression, anxiety, and suicide risks. Larsson et al. (2006), in a follow-up study of patients diagnosed with HD, found that depression scores and frequency of suicidal ideations increased over a 2-year period in participants who were gene-positive as compared with gene-negative carriers. Suicide risk increased at two distinct periods in HD. The first period is immediately before receiving a formal diagnosis of HD, and the second period is in stage 2 of the disease using the Unified Huntington's Disease Rating Scale (Paulsen, Hoth, Nehl, Stierman, & The Huntington's Study Group, 2005). In this study, one participant attempted suicide while waiting for the genetic test results, and the second participant was in stage 2 of illness.

Genetic information is a family affair (Dawson et al., 2004). The difficulty in discussing this information was in understanding the risk to the individual and each family member. As the participants told their stories, they noted some misconceptions in understanding DNA test results. The most common error was that the number of DNA repeats predicts the onset and symptoms of illness. In addition, the concept of having a 50-50 chance of developing the disease is misunderstood. Some families mistakenly believe that if they have two children and one child develops HD, the second child will not develop HD because it has already hit their family. They have missed the important fact that each person has a 50% chance of having the gene for HD.

Denial came in many forms for the participants, including denying symptoms, hiding symptoms from others, and withdrawing from activities, although none of the participants denied having HD. The participants required time to work through the issues of having HD. Denial and mental disengagement were found to increase in patients who had a stronger belief in a possible cure for HD (Kaptein et al., 2006). Coyne (1997) found that families of children with cystic fibrosis underwent anger first and then denial after diagnosis. Denial may be a positive coping skill. It may allow participants to distance themselves and mobilize their energies toward coping (Coyne, 1997). Although the participants in the current study did not express this thought process specifically, each did go on to live with the situation.

Considering the emotional state of the recipient prior to sharing the diagnosis was foremost on the minds of the participants. Hamilton, Bowers, and Williams (2005) explored the experience of disclosing genetic test results to family members. They found that the person at risk considered several factors before relaying the information. These included considering the effects of the disclosure, selectively disclosing different aspects of information, and planning the timing of disclosure. In addition, patients require appropriate educational materials to assist in the disclosure process. Divulging genetic information is an emotional experience and requires emotional support of the affected member. For the patient with children, the emotional toll of guilt knowing that they have put their children at risk for HD can be overwhelming. Without family counseling, the work needed to repair the family structure will go undone.

The receptivity of family members to the participants' diagnosis with HD varied. Hamilton et al. (2005) found that there was a loss of connection with other family members who have not been tested. This lack of uncertainty in the nontested group can create a wedge in the family dynamics. Denial and indifference are mechanisms used to allow the individuals time to withdraw and adjust to the situation. The affected individual may need to give the nonaffected family members time to incorporate the diagnosis into their worldview.

Survivor guilt by the nonaffected individuals may also contribute to distancing from the affected family member (Dawson et al., 2004). Lack of understanding of the meaning of being diagnosed by others leaves the individual feeling abandoned and alone. From the moment the individual received a positive diagnosis, his or her world changed. Affected individuals may feel that they are left to manage their situation on their own. Lack of support from family members may stem from their own shock and devastation from the diagnosis (Isaksson & Ahlstrom, 2006).

Caregivers faced a multitude of issues as the disease progressed. Semple (1995) found that caregivers described feeling sad, distraught, and sometimes frustrated over the fact that, despite all the care they provided, they were, and still are, powerless to stop the deterioration. Watching the progression of the illness of a loved one and experiencing the behavioral, cognitive, and motor changes can be worse for the at-risk caregiver than grieving his or her own death (Aubeeluck & Buchanan, 2006). As a result, the caregivers who are also at risk or are known carriers of the gene are constantly reminded of the reality of HD (Aubeeluck & Buchanan, 2006). The at-risk caregiver, while caring for an affected parent or older sibling, is worrying at the same time that they may develop HD and transmit the gene to their children.

Loss of independence as HD progressed was a theme for the participants. In addition to the actual job loss, isolation from others resulted from a lack of employment. In addition, whether financial or physical, many of the participants depended on others for help. Lempp, Scott, and Kingsley (2006) found that loss of independence for patients with rheumatoid arthritis affected one's identity as an independent person. Fears of being a burden to family members plagued the affected individuals. Loss of independence affected not only the role of employee but also the roles of parent or caregiver, friend, and partner. As the disease progresses, affected individuals are viewed as patients and not in their prior role as breadwinner, spouse, partner, or friend.

With a poor prognosis for the future, one would think that individuals facing HD would have lost hope for the future. Patients placed their hope in future research and a search for the cure although it has been 15 years since the discovery of the gene. Hope can be viewed as a mechanism for coping. Individuals with a high level of hope coped with their cancer diagnosis more effectively (Chi, 2007). Delmar et al. (2005) researched the process that individuals with chronic illness undertook to achieve harmony in their lives. The researchers found that the existence of hope was one of the factors that led to attaining harmony. They stated, "Hope is a source of energy for the spirit.... Hope is future-oriented and contains a desire for a change in one's life situation. This desire produces a feeling of freedom and control over one's life" (p. 210).

Upon further reflection on the meaning of being diagnosed with HD, three patterns emerged from the data: adaptation, purpose, and loss. Patients were able to transform their thinking and decision making to adjust to the diagnosis of HD. This was consistent with the work of Jim, Richardson, Golden-Kreutz, and Anderson (2006) who examined coping skills as a prediction of meaning in life for patients with cancer. They found that patients who use coping strategies that support belief that the world is just and benevolent and the self is worthy and in control helped them adapt to the breast cancer diagnosis.

Finding a purpose in life within the diagnosis of HD facilitated the search for meaning. Loveland (1999) found that being diagnosed with multiple sclerosis had made her participants "better or stronger people" (p. 29) and caused them to experience positive changes in their value systems.

Loss encompassed independence, career, relationships, and dreams. Lempp et al. (2006) found that half of their research participants with rheumatoid arthritis were concerned about loss of independence. They did not want to be a burden to other family members. Furthermore, having rheumatoid arthritis affected their own perception and identity as independent people. Coming to terms with the loss of ability is one way of changing one's self to incorporate HD into a person's worldview and then develop positive coping skills.

Challenges

In the study, the researcher faced several challenges. Some of the potential participants identified were willing to participate in the study but refused to have their story audiotaped. This may have been an attempt to protect the family and maintain the secrecy of HD. Second, the use of voice-activated software to transcribe the audiotapes proved ineffective. The software was not sensitive enough to transcribe the variety of voice tones, frequencies, and speed of the participants. Two of the participants were uncomfortable with the researcher interviewing them in their homes; therefore, the interviews took place over the telephone. The tapes from the telephone interview using a speakerphone were not as clear and more difficult to transcribe.

Implications for Nursing Practice

The significance of the impact of a diagnosis of HD is "a life altering experience, shaped by the conflicting sentiment of relief and turmoil--relief related to naming the entity and fear related to the ominous forecast for the future" (Phillips, 2006, p. 326). The psychological impact of receiving a positive genetic diagnosis had implications for patients and their extended families. All nurses should develop their understanding of the role of genetics and genomics in healthcare today. Specifically, nurses need to be able to collect a three-generation family history to determine possible genetic disorders. Patients also require "unhurried, thoughtful listening" (Phillips, 2006, p. 326) in a sensitive environment so that they can discuss their concerns. Bloch et al. (1993) asserted that understanding the psychological responses to genetic testing for HD and providing counseling may help decrease or avoid catastrophic outcomes. In addition, assessment for changes in mood, behavior, and motor functioning should be performed on a regular basis. Clinical evaluations of the effectiveness of treatments are also an aspect of nursing care. Patient education material on home safety, nutrition, medication management, and general health practices should be provided during the outpatient visits.

Families, once given a diagnosis of a genetic disorder, also require supportive counseling to understand what this diagnosis means to the individual and his or her family. Nurses can help the family members develop a plan of care to maintain family unity and integrity. The development of a family-professional relationship can help families integrate the altered roles into the family system (Koldjeski, Kirkpatrick, Everett, Brown, & Swanson, 2007). Caring for the patient with HD requires a coordinated effort. Nurse case managers can assist in the organization of home support resources to ease the burden of caregivers. In addition, although healthcare providers make a clear distinction between presymptomatic testing and clinical diagnosis, the participants saw the presymptomatic testing as a part of the diagnosis process. The role of the nurse should begin with an exploration of the individual's understanding of presymptomatic results and clinical diagnosis. Through this exploration, individuals can be educated and supported despite their view of the diagnostic process.

Finally, the nurse has the role of patient advocate. Patients may face ethical, legal, and moral dilemmas once a diagnosis has been made. Nurses should act as supportive counselors or provide referrals to the appropriate agencies to assist the patient in the critical-thinking and decision-making process. Through the development of a more supportive and advocacy role, the nurse can assist patients and families in finding the personal meaning of being diagnosed.

Summary

People who tell stories have a need to share information, thoughts, and feelings and a way of creating meaning to an event. Holloway and Freshwater (2007) found that vulnerable people tell their stories to "come to understand their experience, legitimize their behavior and share the emotional experience with others in a holistic form" (p. 703). The use of stories gives the storyteller a voice so they may begin to feel empowered. The findings indicated that individuals who are diagnosed with HD experienced specific events in their lives that shaped meaning. From a nursing perspective, it is inherent that the profession gives a voice to vulnerable people in a way to engage and assist them as they metaphorically weather the ripples across the lake of life.

Acknowledgments

The author extends her gratitude to Barbara Patterson for her role in the manuscript preparation and as dissertation chairperson and to the members of her dissertation committee--Mary Baumberger-Henry and Cathy Jenner. This research was funded by a grant from the Eta Beta Chapter of Sigma Theta Tau International.

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Questions or comments about this article may be directed to Rose Rossi Schwartz, PhD RN, at raschwartz@widener.edu. She is an assistant professor at the Widener University, School of Nursing, University Place, Chester, PA.
TABLE 1.
Demographic Data (N = 10)

Demographic
Variable         Women (n = 7)             Men (n = 3)

Symptoms prior   4 symptomatic less        1 symptomatic for less
  to diagnosis     than 1 year               than year
                 3 symptomatic for         1 symptomatic for 2 years
                   3 years or more         1 symptomatic for 3 years

Education        3 undergraduate degrees   2 graduate school
                 2 some college credits    1 some college credits
                 1 trade school
                 1 high school graduate

Religious        4 identified with a       1 identified with a
  affiliation      religious group           religious group
                 3 had no religious        2 had no religious
                   affiliation               affiliation
                 3 attended services       None attended services
                   occasionally
                 1 attended services
                   regularly

Work status      5 currently working       2 currently working
                 2 on social security      1 retired
                   disability
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Date:Jun 1, 2010
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