13 Neurofibromatosis (NF) has a psychosocial impact that consists of psychological, social, economic, and quality-of-life issues. Psychosocial issues pervade the life of not only the individual with neurofibromatosis, but also the spouse, family members, and other loved ones. This chapter explores the psychosocial impact of neurofibromatosis and suggests coping strategies and resources. Although the psychosocial aspects of neurofibromatosis have not been studied as extensively as the disorder’s physical manifestations, research and personal accounts of people who have NF have helped to identify common areas of concern and typical coping mechanisms.1–5 Psychosocial impact of neurofibromatosis is lifelong and may change over time. An adolescent may be most concerned with physical appearance; an adult may be more concerned about marriage, childbearing, and career choices. Parents of a child with neurofibromatosis may struggle with feelings of guilt, grief, and worry; unaffected siblings may resent the attention given to the child with the disorder. Although many of the psychosocial issues discussed are painful and challenging, most people with neurofibromatosis are happy and well adjusted. In interviews, many say that dealing with the disorder has helped them to become resourceful, resilient, better communicators, and more appreciative of the good things in life. They have dealt with negative emotions and experiences, but they have learned how to acknowledge the pain and move beyond it. They cherish the many positive aspects of their lives, focus on the important things, live and enjoy life fully. People react to a diagnosis of neurofibromatosis in different ways, but it almost always provokes strong emotions and presents significant psychological challenges. There are many reasons for this, chief among them fear of the unknown. In neurofibromatosis, this fear has two dimensions: fear of what manifestations will eventually develop, and fear of how severe those manifestations will be. Most people with neurofibromatosis face the prospect of living their lives with uncertainty about what the future holds in terms of their health and ability to function. Other emotional triggers include changes in physical appearance, feelings of isolation, and experiencing stigma. Certain emotions may subside and then resurge as new features of neurofibromatosis 1 (NF1) develop, or as neurofibromatosis complicates significant life choices such as the decision whether to have children. Given all these factors, neurofibromatosis imposes an enormous emotional burden on individuals and families. When people receive a diagnosis of a chronic disorder such as neurofibromatosis, they are likely to experience intense emotions. Some psychologists believe the emotional reactions to diagnosis of a serious illness are similar to those experienced at the end of life, which were first described by the Swiss psychiatrist Elisabeth Kübler–Ross in her book, On Death and Dying. Kübler-Ross identified five stages of grief: denial, anger, bargaining, depression, and acceptance.6 These emotions may or may not occur in the order Kübler-Ross proposed; people may also cycle back and forth between emotions before finally accepting the reality of neurofibromatosis. At the same time, friends and loved ones may go through a similar process. All of this can make for an emotional maelstrom, to say the least, especially because people go through various stages of the process at different times, and the process itself is not always linear. When first diagnosed, a person (or the parents, in the case of a child) may feel only shock and numbing disbelief. This “transient denial” is a form of emotional self-protection, to enable the person to cope in stages. Usually the denial stage passes, but it can become dangerous if it persists and prevents someone from seeking medical attention when appropriate. As time passes, denial may take the form of being optimistic, not thinking about the diagnosis much, and dealing with problems as they arise. Anger may be next. It is common for people to demand: Why me? How could this happen? People going through this stage may become angry over small things, lash out at a spouse or significant other, or find fault with doctors and medical staff. Anger is a difficult emotion to experience, not only for the person who has NF, but for those with whom he or she interacts, yet it may be necessary as part of the healing process. Anger becomes destructive, however, if it becomes chronic and ingrained. Bargaining may take the form of trying to find strategies that will preclude new health concerns. A person going through this stage may adopt a new diet in an effort to remain healthy or take pains to avoid exposure to environmental toxins. Such strategies often provide a sense of control, whereas the diagnosis has made the person feel completely out of control. Depression may occur when the person with NF acknowledges the reality of diagnosis but is profoundly sad about it. Typically during this stage, he or she will feel tired, irritable, and even victimized. Once again, the issue to be concerned about is duration; if symptoms persist continuously for 2 weeks or more, the individual may need medical help from a clinical psychologist or psychiatrist.7 Given the difficult emotions that may be engendered by a diagnosis of NF1 or NF2, it’s not surprising that the person may also experience difficulties dealing with other people. Family members and spouses or partners may or may not react in a supportive way, as they struggle with their own emotions. At the same time, the person who receives a diagnosis may have to start meeting with several new people, including physicians and other medical staff, insurance representatives, and, in the case of a child, with school officials and administrators. If multiple medical appointments are required, transportation and child care may also pose challenges. Most people who receive a diagnosis do not have medical training, and even those who do may not be familiar with NF1 or NF2. The person who receives the diagnosis is trying to grasp a lot of new information and to make informed medical decisions, while simultaneously dealing with the emotions described above. Intellectual stress can be especially burdensome in the first days, weeks, and even months following a diagnosis. This type of stress tends to abate with time, as people find information they trust, absorb the details, and grow more familiar with the condition. Diagnosis never happens in a vacuum. The people it touches may be simultaneously trying to cope with financial difficulties, job pressures, marital strain or divorce, or have preexisting emotional difficulties such as depression. All of these factors may exacerbate the reactions mentioned earlier. The first step in accepting a diagnosis is to appreciate how difficult this may be, for all the reasons just described. Many of the early emotional reactions subside with time. In general, seek help for yourself or a loved one, or make a referral for a patient, when emotional states start to interfere with sleep, work, family life, and important daily routines. Genetic counseling may also help to better clarify both the disorder and its implications for childbearing decisions. The amount and type of information provided depend on the age of the patient (see Chapter 4). Whenever possible, physicians should offer patients written information about neurofibromatosis at the time of diagnosis. This should include information about the genetics of neurofibromatosis and the risk of passing the disorder on to children. If additional medical visits are necessary, or expert consultations required, names and contact information for the appropriate physicians should be provided at the time of diagnosis. It is a rare person who will remember every medical detail explained at the time of diagnosis, and patient information sheets or brochures help answer questions that occur once the person has gone home. [The National Neurofibromatosis Foundation (NNFF) has available several excellent brochures, books, and other materials. For more information, visit the NF Foundation Web site: www.nf.org.] Patients can help themselves by obtaining as much information as they personally feel necessary. Some people prefer to rely on physicians, who can interpret the information for them. In some areas of the country, chapters of the NNFF provide regular meetings with programs presented by medical professionals. The person with NF has the opportunity not only to learn more about the disorder but also to meet other people who have it. In many cases this has provided the first occasion for a person to meet someone else who has NF. Chapters offer a way for individuals to take active part in the programs of the NNFF and thus contribute to its educational and research goals. Support groups are sometimes available, which may be useful in providing emotional support and practical information about personal experience of others and local resources. Parents of newly diagnosed children who are interested in support groups should be aware of the substantial variability of severity of NF1. In a support group, they may meet parents or individuals who are dealing with severe complications of the disorder. Finally, patients can help themselves by becoming active participants in their own care. Ask questions, seek second opinions as necessary, and keep track of medical visits and clinical findings. Sample forms for use in compiling information and keeping track of medical visits are included in Chapter 14. Parents of children with neurofibromatosis are often concerned about when and how to explain the disorder to a child. Some general principles are helpful for parents in talking about neurofibromatosis with an affected child, unaffected siblings, or other children: Adults with neurofibromatosis may struggle with when and how to tell others about the diagnosis. The decision may depend on how obvious the disorder is, whether disclosure is to friends, neighbors, work colleagues, or relatives, and on an individual’s own sense of privacy. Challenges remain even after people come to accept a diagnosis of neurofibromatosis. Individuals and families may find themselves occasionally cycling back through a process of grief and acceptance as they confront the ongoing challenges of neurofibromatosis. Although individual experience varies, such challenges usually include some mix of issues described below. Anyone who has had to wait to hear the results of a medical test knows how difficult it can be to deal with uncertainty about what the future holds. Most people with neurofibromatosis face this type of uncertainty every day of their lives. In all cases of NF1 and schwannomatosis, and in spontaneous cases of NF2, it is impossible to predict exactly what mix of symptoms will develop and how severe they will become. It is normal, in the face of such uncertainty, to feel anxious, worried, stressed, angry, and depressed. People with neurofibromatosis often say that having to cope with uncertainty is the most challenging aspect of their disorder. It is common for people with any disorder to ask, “Why me?” This may occur not only at the time of diagnosis but also throughout life as different challenges arise. One can feel lonely and isolated in having a disorder like neurofibromatosis that people may be unfamiliar with, fear, or have misconceptions about. People may mistakenly believe they can “catch” neurofibromatosis and thus avoid someone with the disorder. Someone with neurofibromatosis may resent the fact that other people, even other family members, do not face similar challenges. Neurofibromatosis has physical manifestations that may make the person with NF look “different” from other people. Such differences can pose enormous difficulty, especially in societies like the United States in which unrealistic norms for beauty are continually reinforced in the media. People with NF1 may worry about visible café-au-lait spots and dermal neurofibromas. They may be afraid that they will become disfigured, although most people with NF1 do not. People with all types of neurofibromatosis who develop visible tumors in the face, neck, arms, and trunk are especially vulnerable to feeling self-conscious about physical appearance. They feel it is necessary to wear clothing that covers the arms and trunk even though that might not be their style preference. The physical changes associated with neurofibromatosis pose more than just cosmetic challenges in that they can threaten a person’s sense of self-esteem and security. The word stigma derives from the Greek word for a mark made with a sharp instrument. People with neurofibromatosis may indeed feel “marked,” either physically or emotionally, by the disorder. Having to confront stigma is a fact of life for most people with neurofibromatosis. Such stigma may be as blatant as the taunts of schoolchildren or as subtle as someone in a shopping mall staring too long. It can include avoidance, ostracism, revulsion, rejection, fear of contagion, and lowered expectations. Stigma may also manifest as discrimination in the workplace and by insurance companies. In childhood and adolescence, people with neurofibromatosis may have trouble making and keeping friends. Sometimes other children make fun of a child with neurofibromatosis because of visible tumors or other physical differences. Repeated school absences to deal with doctor visits and medical treatments may prevent a child from keeping up with peers. The child may feel self-conscious about changing clothes for gym class or attending sleepovers and pool parties. In NF1, learning disabilities and coexisting disorders like attention deficit hyperactivity disorder (ADHD) may require the child to attend special classes or take medication. The onset of early or late puberty may further distance the child from peers. As a person with neurofibromatosis matures, dating and marriage may become a concern. It is natural for any adolescent to be shy and awkward around the opposite sex, but this may be especially true of someone concerned about physical appearance or having to explain what a genetic disorder is. Adults with neurofibromatosis may struggle with when and how to tell people they’re dating about the disorder because it will influence long-term decisions about marriage and childbearing. The neurofibromatoses are chronic disorders that pose different challenges at different stages of life. Coping with a lifelong disorder requires that a person find ways to continually adjust to and cope with new circumstances. A disorder that involves genetic transmission poses unique challenges to individuals and families. Parents of someone with neurofibromatosis may struggle with feelings of guilt and personal responsibility about “giving this” to a child, even if there is no family history of the disorder. Individuals with neurofibromatosis may struggle with the decision to marry and have biological children. Neurofibromatosis is a disorder that engulfs the entire family. It can place strains on a marriage, as parents struggle to cope with multiple difficult and unexpected challenges: accepting the diagnosis, finding accurate information about neurofibromatosis, seeking knowledgeable health care providers, accommodating numerous doctor visits, dealing with learning disability and poor school performance, aiding the child’s social development, and providing a supportive home for the child. Each partner in a marriage may have different coping methods: one may want to talk to “let off steam,” while the other prefers to avoid the topic. Financial worries and concerns about the future of a child who has NF only further complicate matters. Guilt, however irrational from a scientific viewpoint, often plagues parents. Unaffected siblings may resent the attention given to the child with neurofibromatosis or may feel “survivor’s guilt” at having been spared. The child with NF may grow frustrated at having to face challenges others in the family do not face. If burdened with learning or physical disabilities, he or she may become discouraged at not being able to keep up with schoolmates, siblings, and other family members. In spite of these challenges, parents and siblings can provide enormous support to a child who has NF by creating a family atmosphere of respect and acceptance. Most experts agree that it is best to treat a child with neurofibromatosis the same as any other child. Acknowledge that the child is facing unique challenges and emotions, but maintain the expectation that the child will achieve his or her full potential. As the child becomes an adult, encourage as much independence as possible. It also helps to remember that all families experience good and bad times, but that the main point is to keep communicating. Families absorbed with neurofibromatosis may have to make a special effort to schedule family time and activities so that home life does not revolve around medical visits or other aspects of living with the disorder. Some of the best advice about how to deal with the psychosocial aspects of neurofibromatosis has come from those who have it. The National Neurofibromatosis Foundation shares such information and provides support to people with neurofibromatosis and their families in a variety of ways. NF Foundation chapters are located across the country and may be able to provide a referral to a local support group. A newsletter, an online bulletin board, and a community chat room are available at the NF Foundation Web site: www.nf.org. People usually feel overwhelmed when they are trying to process too much information or make too many decisions at once. In neurofibromatosis, it is important to take the disorder one day at a time, and even one task or one decision at a time. If a doctor is concerned about a new symptom and orders a medical test, for instance, it may be more helpful to focus on the factors you can control than worry about an outcome you can’t predict. Ask whether you will have to fast or do anything else in preparation for the test. Ask how long it will take and whether someone should accompany you. When will the results be known and, if necessary, when will treatment options be discussed? Whatever the issue, try to deal with the challenges that exist and try not to think of others that may develop at some point in the future. Everyone has a personal way of dealing with adversity. Some people like to gather as much information as possible; others avoid reading anything for fear of increasing their anxiety. Sometimes it helps to broaden your skills in this area by experimenting with other ways of coping, even if the methods don’t appeal at first. You never known until you try. Options for coping include physical activity to work off emotional “steam,” relaxation techniques such as meditation and deep breathing, and distractions such as meeting with friends or going to a movie. Don’t be afraid to ask for help and support when you need it. Be specific. Even loved ones and the best of friends may not understand what you need and may end up doing exactly what you wish they wouldn’t do. Different people offer different strengths. Learn which people you can turn to for emotional support, practical advice, and financial help. It is rare to find one person who can provide all of this. You know your own body, or your child, better than anyone. Become familiar with your overall health profile so that you can articulate changes to your health care provider. Ask questions if you don’t understand, request supplementary educational material, and seek out your own sources of information on the Internet or in the library. Don’t be afraid to question treatment recommendations or ask for a second opinion if you have concerns. Remember that medicine is always evolving. Ask about new treatment options or research studies that may be appropriate (see Chapter 15). For news about research findings, clinical trials, and new treatments, visit the NF Foundation Web site: www.nf.org. Mention alternative medicine and most people think of herbs sold in a health food store. Yet alternative therapies include a wide variety of non medical approaches to fostering emotional and physical health. Relaxation techniques such as deep breathing and meditation help some people with neurofibromatosis to ease anxiety. Others benefit from yoga (a series of gentle stretches combined with meditation), tai chi (slow dance-like movements to stimulate the flow of life energy), and reiki (in which a practitioner channels spiritual energy to promote healing). Some people with neurofibromatosis find that participating in religious services or some other type of spiritual observation helps to promote overall health and well-being. Prayer, faith, and spirituality can be sources of enormous strength. Although everyone occasionally feels down or gets the blues, it is important to seek professional help if these feelings become pronounced or persist for too long. If someone with neurofibromatosis is depressed, fatigued, has trouble sleeping, or unable to concentrate almost every day for a 2-week period, the cause could be major depression.7 If these symptoms, or any significant change in mood and/or energy level occur, it is best to seek medical attention from a clinical psychologist or psychiatrist. Nancy B: “I have concerns about the future. NF1 is unpredictable in the course it can take. It probably won’t get bad, but it’s always in the back of my mind that it could get worse. Watching my twin sister, who also has NF1, go through her recent operation to remove a plexiform neurofibroma churned up lots of emotions.” Porter C.: “Sometimes people point, laugh, and stare and call me names. I wish that they would ask questions. When children ask, some parents try to stop them and I say, ‘No, let him ask.’ “I now have reiki treatments once a week. It’s an ancient Japanese healing technique that involves hands-on healing. My cat is interested in it and recently jumped up on the table and stretched out on my back. He wanted a treatment too. “I don’t feel sorry for myself. Positive thinking helps. I was blessed with parents who had a lot to do with my attitude. A good sense of humor helps. Life was meant to be lived, and I’m not going to live in a closet because someone doesn’t like my looks.” Diane D.: “The emotional impact of NF1 is proving to be more challenging than the medical aspect. Knowing that most of the medical symptoms of NF1 can be managed, I think we can handle anything that comes medically. If tumors develop, they are usually benign. It’s the emotional part of the day-to-day challenges for Julie that is so difficult. The problems making friends, the struggling in school, problems learning—that’s what is so hard.” Dolores G.: “You know, there’s always such a concern about ‘whose fault is it.’ My parents blamed my husband, and my husband’s family blamed me. When I was diagnosed it took the heat off my mother-in-law and put a terrible load of guilt on my parents, especially my mother. I remember exactly where we were when I told my parents I did not have NF. We were in the hospital, in the cafeteria, and it was Susan and her dad and me, and my mom and dad. We were sitting there, eating with Susan. And I told my mother that I was ‘de-diagnosed,’ to use my terminology. As I told my mother about this, you could see this burden being physically lifted from her. It was amazing. My parents adored Susan and would have done anything for her. But just knowing that it wasn’t her fault, that she didn’t have it, made such a difference in my mother. “My husband and I did have pressure, yet we could work it out on our own. But it was tough on our other kids. I don’t think we neglected the other kids, and they tell me now that we didn’t, but there was always this illness that was like a cloud over our heads. It’s not that one person in the family has NF; it’s that the whole family has NF.” Adam G.: “I never let NF2 affect me. I never saw NF2 as an excuse and I never saw it as a reason that I should not be able to achieve as much, so I think my attitude has helped. When I was younger, in elementary school, there were kids who made fun of me. But even at that age, I realized these kids didn’t know what they were talking about. I’ve done a lot of speaking at school assemblies. My class knows me well. I’m secretary of my class. So they know there’s a lot more to me than that I’m blind in one eye and deaf in one ear.” Marcy H.: “Before I received a diagnosis, it was very difficult. I was in so much pain. And when you’re in pain, you become hard to live with. It can be very hard for a couple, and a family, before there is a diagnosis. “Today my husband is incredibly supportive, although he had a hard time adjusting to this. Men like to fix things, and he can’t fix this. It’s probably as difficult for the family as it is for the patient. The spouse is dealing with something that he has no clue about. You look fine and you’re supposed to act fine. The family can become exhausted from it. They get sick of hearing about it. “My husband and I both see a psychologist. My psychologist works with people who have pain disorders. I’d advise others to seek out psychological help with a therapist who is willing to talk with both the individual and the family. You want to work with someone who tries to keep the couple together.” Martha L.: “When I was diagnosed, no one really knew then, or even now, how NF2 will affect each individual. I was scared, angry, and devastated, not knowing what the future would hold, and knowing that I would lose my hearing. The biggest challenge I have faced is accepting what is wrong with me and trying to explain to people what NF2 is and why this happened. People are afraid of the unknown, and NF is just that. One of my biggest concerns now is that a tumor will take away my ability to be independent. “Having NF has taught me a lot about life, and to be grateful for it. I’ve always loved my family and friends, but having a disease makes you appreciate the things closest to you even more. I know when this all started, and sometimes even now, I would get depressed or sad and think, Why me? My parents and my sisters have been there for me since this all started. I was lucky enough to meet my husband, to whom I’ve been married for 10 years. It’s been my husband who has had to see me at my saddest and most depressed times, but he’s been right there holding my hand every step of the way. I truly believe without these wonderful people in my life, I don’t think I could be the way I am today. NF has made my body weaker in some ways, but it has made my heart and my love of life much stronger.” Tamra M.: “My friends in school have a good idea about what NF is. I’ve done a few presentations on it in science and health. People have been very supportive. My high school has been really great compared to other schools my friends with NF have told me about. There’s compassion. When I was in the hospital, everyone signed a card, even people I didn’t know.”
Psychosocial Impact of Neurofibromatosis
♦ The Impact of Diagnosis
Emotions
Interpersonal Stress
Intellectual Stress
Additional Stresses
♦ Coping with a Diagnosis
♦ Talking About Neurofibromatosis
Talking with Children
Telling Others
♦ Dealing with Ongoing Concerns
Living with Uncertainty
Feelings of Isolation
Changes in Physical Appearance
Stigma
Problems Making Friends
Concern About Intimate Relationships
Coping with a Lifelong Disorder
Challenges of a Genetic Disorder
♦ Issues Affecting Families and Loved Ones
♦ Coping with Ongoing Concerns
Find Support
Take It a Day at a Time
Explore Creative Coping Methods
Tell People What You Need from Them
Become an Active Participant in Your Health Care
Explore Alternative Therapies
Cultivate Faith and Spirituality
Get Professional Help When Appropriate
♦ The Personal Perspective
References
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Related posts:
Cognitive Function and Learning Disabilities in Neurofibromatosis 1
Genetics and Genetic Counseling in Neurofibromatosis 1 and Neurofibromatosis 2
Research About Neurofibromatosis
The Pathogenesis of Neurofibromatosis 1 and Neurofibromatosis 2
The Many Faces of Neurofibromatosis
Other Features of Neurofibromatosis 1
