LEARNING YOU HAVE FABRY’S DISEASE: REACTIONS AND FEELINGS
BY: DR. BARBARA A. WEHMANN

Coming to grips with the diagnosis of Fabry’s Disease is a difficult and intensely personal journey. A diagnosis can occur any time from the prenatal period to well into adulthood. If such a discovery is made when a person has the cognitive maturity to understand what has happened, as well as what may occur, the initial reactions and feelings are remarkably similar to intense grief. Because of this similarity, the five common stages of grieving are very useful in illustrating how people may come to terms with this disease. There are many different reactions and feelings that are normal and necessary. The person diagnosed, as well as family members, significant others, and close friends, may experience these responses and emotions initially and as the disease progresses. This article will explore the various reactions and feelings following a diagnosis of Fabry’s Disease.

Few things in life can be as devastating as being diagnosed with a serious and chronic illness. When diagnosed with Fabry’s Disease the uncertainty of what is wrong is gone, but new levels of uncertainty and unpredictability enter your life. One certainty that remains is that there will be changes. You have been told that unless a cure is found, the disease will progress and remain for the rest of your life. The diagnosis has presented a whole new reality for you and also for those who feel close to you. From now on, life is going to be different and plans will need to include Fabry’s Disease. The illness is not going to go away regardless of how much the diagnosis is resisted, or how much anger or sadness there is. One day at a time you must deal with personal feelings, and probably the emotions and reactions of other people. Not only will you be in the process of making changes, but you may have to assist others in making modifications as well. Everyone affected by the disease will have emotional wounds that will need to heal over time. Your own happiness can no longer be based on the assumption of being well.

EVERYONE RESPONDS AND ADJUSTS DIFFERENTLY

Fabry’s Disease is very complex. While some symptoms, feelings, and reactions may be similar among people affected with this illness, there also will be many differences. When you were first diagnosed your personal response may have been different than that of others in the same situation. For example, some people may not want to speak about their illness, while others may feel a great need to talk. The choice may be made to struggle through daily routines until it is difficult or impossible to function, or to let go of some responsibilities soon after the diagnosis. Some people may openly cry, while others may weep only in private. It may be difficult to find others who offer help and know what you are experiencing, or there may be too many people who seem to want to control your life.

Having Fabry’s Disease is different from having an acute illness such as the flu or a cold, but those situations may be the only reference points others have when they try to conceive of what being ill every day is like. Since Fabry’s Disease is rare, many people never will have heard of it and will be perplexed by it. The disease will become even more confusing if you are one of the few women who have symptoms as severe as those expected only in men. Although some people may grasp your situation, over time you likely will need to educate significant others about what it is like to live with a chronic illness. Talking with others who cannot understand what you are experiencing may only worsen some of your feelings. However, attempting to educate everyone you know may only cause more frustration on your part since many people do not seem to comprehend the concept of a chronic illness, especially if they cannot actually observe the effects. The support of at least one person close to you who knows how and when to sympathize and empathize appropriately will be needed.

You have been diagnosed with a rare, chronic, progressive, and incurable disease that will offer many continual complexities, changes, and challenges. The adjustment period will be difficult for everyone affected by the diagnosis. While you will undergo both physical and emotional stress, family members, significant others, and close friends will suffer emotionally. These other people undoubtedly will have to change their expectations about many things. Everyone will struggle to define their roles and new sets of rules during the adjustment period. It may at some point become difficult for you, as well as for those people emotionally affected by the disease, to continue with the important commitments of life such as working outside of the home, running the household, dealing with the children’s fears, and handling other inevitable problems unrelated to the disease. Learning to balance all of the necessary commitments in life will be a great challenge for everyone.

THE FIRST REACTIONS AND FEELINGS
RELIEF AND SHOCK

If symptoms have occurred for years, learning the name of the illness may be a relief at first. You may be tired of some people questioning or doubting your credibility. Knowing the name of the illness may give a focus and make it more manageable. However, shock may also be felt from the news that it is such a serious disease. You may wonder how this could happen and why you were singled out for this illness. These reactions and feelings are normal. Other people affected by Fabry’s Disease experience some of the same responses and emotions.

ANXIETY AND FEAR

Extreme anxiety and fear may occur, both of which are normal and necessary. As the implications of Fabry’s Disease become clear, there may be overwhelming thoughts. You will wonder about so many things and may ask such difficult questions as: How will this disease affect my life? Will I get worse? Will I die? What will be the physical effects of this disease? Will a cure be found in my lifetime? Will I be able to take care of myself? Will I end up in a nursing home? Will I be able to take care of my family? Will I be able to manage the household? Will I be able to keep working? Will I be able to continue my plans? What lifestyle changes will I have to make? Will other people be supportive? Will people treat me differently? What changes will occur in my relationships? Will I be able to have children who are healthy? Will I be in the hospital frequently? How will I handle the medical bills? Will I have insurance problems? Will medical procedures be invasive? What will the side effects of the medication be? Will my physician still be interested in helping me?

Family members, significant others, and close friends will also feel anxiety and fear. They will wonder about many things such as: Will he be okay? Is she going to die? How will this disease affect my life? How will this disease affect our relationship? Will I be able to take care of him? Will we be able to have healthy children together? Will I be able to balance my roles as caregiver and parent? What lifestyle changes will we have to make? What will happen to our plans and dreams together? Will we be able to handle all of the medical bills? Although everyone may share questions, there will undoubtedly be personal issues.

SHAME AND SELF-PITY

When you are diagnosed with Fabry’s Disease shame may be felt. Perhaps you were raised to believe that illness is a sign of weakness. It is okay that other people are sick, but you cannot accept the illness. You may feel like a failure. In addition, you may believe that by being emotionally stronger, the illness can be overcome. Occasionally, a natural self-pity will occur, especially as the disease forces changes in your life.

OTHERS STRUGGLE WITH LOSS

People such as family members, significant others, and close friends will also be going through some of the feelings associated with grief such as anger and sadness. They will have their own personal struggles and also may experience lost expectations and dreams, as well as changes in usual roles and routines. Those people who are close to you may feel helpless because they cannot control what is happening to someone they love. In addition, they may feel powerless after the diagnosis is made. There does not seem to be anything they can do to stop a bad situation. They may have tried to make you feel better. Maybe they stopped calling as frequently and did not visit as much, or stay as long, as they wanted. When their attempts did not work, they felt helpless, frustrated, and did not know what else to say or do. Sometimes, these other people may simply stop having contact with you for various reasons.

Chronic illness can put a heavy strain on even the strongest relationships, and family life can become chaotic. Everyone will have their own feelings and needs. When a family member is diagnosed with Fabry’s Disease, healthy functioning relationships will be essential. In families who are dealing appropriately with the diagnosis, people listen to each other as they clearly express their needs, thoughts, and feelings; problems are solved efficiently; and members trust, support, and nurture each other. Families who are functioning well likely will continue to do so, although everyone may begin to view and approach problems differently. Some old issues may seem trivial and no longer important. In families who did not communicate and solve problems adequately prior to the diagnosis, ineffective patterns may worsen due to the stress of the illness. Some members may push others away through behaviors like irritability or withdrawal.

If there are children in the family, they may feel very angry, sad, scared, and worried. These reactions may appear delayed and first appear when children finally mature enough to realize the full implications, or when the illness progresses. Children will look at this situation differently than adults. Their view will be a more self-centered one. They may wonder if the parent who is ill will be able to attend activities anymore, visit school on parents’ night, cook meals, play games, or help with homework. Older children even may feel some guilt if their friends continue to be a priority to them while their parent is ill. Also, they may feel angry at their parent for being sick. Upon learning the diagnosis, adolescents will wonder if their parent’s illness will interfere with their friendships or activities that are important to them such as learning to drive, going to proms and dances, or graduating. Children may be forced to exert more independence and will have to learn that family life no longer centers around them all of the time. Just like everyone else, they face changes in all of their previous routines.

THE PROCESS OF GRIEF

As your symptoms continue to change, reactions and feelings that are different from your initial responses to the diagnosis may be experienced. To further understand what is likely to occur after you are diagnosed with Fabry’s Disease, it is important to discuss the normal process of grieving. Grief is the emotional suffering felt after a loss of some kind and it is usually thought of as something experienced during times of death. However, when you are diagnosed with Fabry’s Disease and your health continues to diminish, a horrible loss is experienced that constitutes traumatic stress and a serious crisis. These experiences have an effect very similar to grieving. You may experience other losses as time passes such as being unable to work, perhaps being abandoned by some family members or friends, and being unable to carry through with normal routines. The object of grief may change, but any loss that is personally significant may cause you to experience again many of the same feelings you had when initially trying to accept the diagnosis.

The grief process is normal, predictable, and even necessary when any major loss occurs. Grieving may eventually lead to the replacement of overwhelming emotions with more manageable feelings. When your attention shifts from learning you have Fabry’s Disease to the things that have been, or may be, lost you will probably begin to grieve. Grief is the process that enables you to finally acknowledge and come to terms with your loss of health.

The concept of grieving in five stages, first discussed by Dr. Elisabeth Kubler-Ross, is very useful in understanding feelings and reactions to the diagnosis, or progression of Fabry’s Disease. Loved ones, significant others, and close friends may not experience all of the reactions and feelings connected with each step since that will depend on how close they feel to you and how much loss they experience. It is possible to be in more than one stage, or to go through them in a different order. Also, you may get through one level and then find that some emotions are reoccurring.

STAGES OF GRIEF

STAGE 1: DENIAL.
In this stage, you do not want to believe that this is happening. Refusal to believe the diagnosis can last anywhere from a few moments to months depending on the person. The initial shock may even cause disbelief of the diagnosis. You may think that the doctor was wrong. Since the diagnosis is not accepted, you may not want to hear any information about the disease and may look for some way to resolve the situation. Perhaps it always has been easy to solve problems and move beyond obstacles. Even if the diagnosis is accepted, you may feel that you will be the exception and not get sicker. Denial can even relate to specific activities as you refuse to let go of actions that were easily done in the past, but are now very difficult or impossible. Any thoughts such as these are normal and are ways of coping with the traumatic stress of learning you have Fabry’s Disease.

In this stage, you are taking in what is happening a little at a time so that the information can be handled. At some point, each person will need to move beyond total denial in order to continue the normal process of grief. However, as the disease progresses and more changes occur, intermittent denial may be useful in allowing time to adjust and enabling gradual acceptance of threatening aspects and losses involved with the illness.

STAGE 2: ANGER.
Many people, especially females, have been raised to think that anger is an ugly emotion that only should be expressed in private. However, this emotion is normal and even necessary. You realistically feel helpless and cheated by circumstances beyond your control. Having this illness may seem so unfair. Anger may be directed toward yourself, a family member, a friend, strangers, God, or the whole world. You may wonder why so many people seem to be well and be able to do the things that you would like to do. In addition, anger may result from thinking of people who have not lived their lives in positive ways, yet are not diagnosed with such a serious disease. It is important to remember that this feeling may never completely disappear, although it will not always be continuous or intense.

Anger can make minor frustrations turn into furious outbursts even for previously calm and easy-going people. These displays are often directed at loved ones. You may verbally lash out at someone for something minor such as asking how you are feeling. If intense anger continues for too long, it will be detrimental to relationships, will cause physical and emotional stress, and can even exacerbate symptoms.

STAGE 3: BARGAINING.
This stage does not usually last long since it is quickly seen as ineffective. You may bargain with God, although you do not have to believe in something spiritual in order to find yourself trying to bargain away the disease. Many things will be promised such as pledging to appreciate every day of the rest of your life if you can just get rid of the illness. Loved ones may say that they have wished or prayed that it was they who had the disease instead of you. However, it is not long before most people realize that trying to bargain away the illness is futile.

STAGE 4: DEPRESSION.
In this stage, you may feel worthless and that existence is no longer useful or worthwhile. If plans cannot be fulfilled, then you may wonder why life should continue. Often depression sets in with the realization that anger or bargaining will not make the disease go away as hoped. The first three stages can even be attempts to avoid facing depression. Feeling you are losing control and that you are helpless to make things different can lead to complete despair, hopelessness, and intense sadness. This depression can occur at different times such as following the diagnosis, after realizing the full extent of your illness, when the disease progresses, during long periods of forced inactivity, or after a loss resulting from the disease (such as having to stop working). Even though anger may still be felt, sadness is probably the deepest emotion that you may have.

In this stage, crying may occur unexpectedly, or for what appears to be the smallest reason. However, sadness may not be displayed in tears. Rather, you may hold in such an emotion and express it only in private, or not at all. The way feelings are exhibited has to do with many things including how you were raised, what you came to believe was appropriate personal behavior, how loss typically has been handled, and what other things are occurring in your life.

It may even be difficult to discern some of the symptoms of depression from those of Fabry’s Disease, or from the side effects of medication. Some of the symptoms of serious depression include feelings of intense sadness; drastic changes in sleeping or eating patterns; listlessness; decreased ability to concentrate; feelings of guilt, dissatisfaction, or failure; withdrawal from social activities; indecision; thoughts of, or attempts at, suicide; a sense of worthlessness; and sexual dysfunction. Not all of these symptoms need to be present in order to indicate depression. At times, profound sadness can enter a vicious cycle. For example, physical illness and extreme sorrow can cause you to withdraw from social relationships. This retreat from social support makes you feel more despondent and even more likely to withdraw from others.

Depression eventually can become so severe that professional help is needed. At times those who feel closest may not be able to assist in the manner that you need. More than support and sympathy may be necessary when sadness becomes so intense that it interferes with day to day functioning. Even a small task that once was done easily becomes impossible to do. Depression also may strain close relationships and cause physical and emotional stress which in turn may exacerbate symptoms of the disease. For the typical sadness that is attached to grief, there is no set time table. People may be depressed for a few weeks, a few months, or a year or so. It is more the severity and interference with day to day functioning that should indicate whether professional help is needed. When looked at this way, even depression lasting a week may warrant professional assistance.

Two things are important to remember. First, the sadness, as the anger, may never go away completely. The difference will be that as time passes, you will try to rebuild your life according to new capabilities and find ways to be happy that do not depend on wellness. However, this ongoing sorrow may be a very deep emotion. It may not be observable to others since it will not always be overtly expressed. This sadness is a very realistic feeling given the nature of Fabry’s Disease and the tremendous changes in symptoms as the disease progresses, continual losses and changes in your life circumstances, and fact that this rare, serious, progressive, and incurable disease will end lives unnaturally before old age occurs. Second, getting through a severe bout of depression does not mean that it will never happen again. Life or physical changes could trigger intense sorrow and if it reoccurs to the point of interfering with daily functioning, you should reconsider the idea of seeking professional assistance.

STAGE 5: ACCEPTANCE.
In this stage, as loss of health is realized, the diagnosis begins to be accepted. If you are still pretending to others and to yourself that there is no illness, then healthy acceptance has not begun yet. Struggling to hang on to what has been lost will cause remaining opportunities to be missed. In this stage, you learn that even though having Fabry’s Disease has eliminated some choices in life, there are still remaining options despite the fact that they would not be what was planned or chosen first. Recognizing that original dreams and plans may never be fulfilled can allow you to start the process of rebuilding your life to personal capabilities. You learn to use your abilities to contribute and be as productive as possible, rather than to dwell on the disease. What has happened is that you have moved from the disease being overwhelming to a point where the illness is one more facet of life, although it is an extremely significant one. You have come to grips with Fabry’s disease and learned that the best way, if not the only way, to deal effectively with this illness is to address it as yet one more challenge to face.

Acceptance does not mean necessarily that feelings like sorrow or anger will be gone completely and forever, and that you will always feel happy. To not feel some sorrow and anger may indicate that you do not completely understand what is occurring to your body and life as a result of the disease. You, of course, would be happiest without this illness, but you will discover that general enjoyment, or at least happiness in parts of your life, is possible despite such a serious and chronic disease. You will come to realize that dwelling on something that cannot be changed only worsens feelings of fear, sadness, helplessness, anger, and anxiousness.

GRIEF IS NECESSARY

It is important to reemphasize that these stages and the reactions and emotions involved are not only normal, but predictable and necessary. For example, anxiety may motivate information seeking. Denial may assist the gradual acceptance of the illness. Anger may motivate you to make necessary changes. Sadness may mean that the reality of the situation has begun to be accepted. While not all of the feelings may be experienced at the same time, you may encounter some emotions simultaneously such as shock and anxiety, relief and fear, and anger and sadness. The grief process is different for everyone. You may pass through a stage only to revisit it as the disease progresses, or as more changes need to be made and you are forced to acknowledge a different type of loss. Just as you feel you are coping with things and are doing okay, something else may happen such as a friend or family member no longer calls or visits, someone makes an insensitive comment, the disease progresses, side effects of a medication become a problem, an insurance company denies benefits, you must stop working, or something completely unrelated to the disease happens.

Denying emotions will hinder progress toward a happier and more realistic life. You will have to eventually accept the disease and the things that have occurred as a result of being ill. How well you adapt to the changes will determine if life will be satisfying again, or whether the normal reactions and feelings to the diagnosis remain at an intense level. If you do not learn to express emotions through healthy and appropriate outlets, others close to you may observe and be the victims of behaviors such as irritability and withdrawal. This may work to alienate the people closest to you whose support is needed most.

WHEN CHILDREN ARE DIAGNOSED

If you were a young child when diagnosed, some of the initial reactions and feelings, as well as those associated with grief, may still have occurred. However, your parent(s) was the one who felt many of those responses and emotions. As a young child, it would have been beyond your cognitive development and life experiences to fully understand all of the implications of a serious disease. You were dependent on others to meet critical needs.

If you endured symptoms while growing up, they may have been considered just a normal part of life. You may even have thought that everyone experienced symptoms like yours. Because Fabry’s Disease may not have been visible to peers, the illness may not have been understood. In addition, although few children want to be different, you may have been dissimilar because of school absences, or limitations such as in physical education activities. Problems may have resulted not only from peers, but from teachers and other school personnel who may not have understood the disease, especially because they were not confronted by a physical handicap. If the illness became worse during adolescence, that could have been especially difficult since so many other changes were occurring during that time.

If you have been ill for many years since childhood, living within your capabilities already may have been learned. Still though, the disease may continue to progress and cause changes in routines, roles, and expectations to which you and loved ones are accustomed. Regardless of when the diagnosis occurred, changes resulting from the disease will be stressful and difficult, and you will experience various grief reactions as a result of the losses.

When a child is diagnosed with Fabry’s Disease a parent may experience many of the reactions discussed previously such as fear, anxiety, anger, and sadness. These emotions, in addition to a parent’s guilt, may be overwhelming. While perhaps not as intense, a parent of a child who is a carrier also may have these feelings. In either situation, knowing about the disease prior to having the child will not prevent such reactions from occurring. These emotions will be present whether the diagnosis occurs in childhood or adulthood, and may always exist to some extent. Time may do little to lessen the intensity of a parent’s feelings, especially if the child is ill and continues to experience health and life changes.

CONCLUSION

To say the least, having Fabry’s Disease is a continual challenge. Coping with the disease will take all of your strength, physically and emotionally. Therefore, it is important to not postpone positive emotional growth since you will need all possible resources. You may struggle to get out of bed many times and to just get through the day. The disease may progress to a point where you never feel well again. Therefore, your reference point concerning what wellness means will change.

There may as yet be no cure for Fabry’s Disease, but there are ways to rebuild your life, and to be as happy and productive as possible. You may even learn new and creative ways to do old routines. This does not mean that happiness about having the disease will ever be felt. Also, anxiety, fear, anger, and sadness may return to higher levels at times. However, these feelings will not be overwhelming, or contribute to long term inactivity and nonadaptation, at all times.

Until you discover more about Fabry’s Disease and learn to live with its’ effects, the illness can dominate your entire life. In order to regain a sense of control, you will need to know what to expect from this illness, as well as how to exert psychological strengths, expand options, and cope. You must discover new ways to live productively with this illness, to achieve the highest quality of life possible, to feel that life is worth living, and to feel worthwhile. Learning you have Fabry’s Disease is not easy and living with the illness will be even harder. However, by facing the realities of a very difficult situation with honesty, a new perspective of life can become possible.