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Introduction

With the tremendous growth and excitement in the field of genomics, there is reason to be hopeful that evidence-based data on the experience of siblings will follow. As the field prospers, sibling relationships will be challenged by major issues, including differential interest in seeking carrier, pre-symptomatic and susceptibility testing, the handling of differential genomic data between sibling dyads, and the resultant apprehension and mastery. The potential impact of genomic information on childhood sibling relationships is largely not documented. Until the time that we have research on these issues, we turn to the literature on the impact of genetic information and illness on siblings and present existing data, largely based on conditions arising from single gene disorders.

Siblings of children with genetic disorders face daunting challenges. They encounter the prospect of genetic implications for their own lives and that of their children and confront the complexities of dynamics that evolve in families with a chronically or seriously ill child. As parental attention is focused on the affected child, well siblings are often neglected and their emotional needs ignored (Foster et al., 2001; Houtzager, Grootenhuis, Caron, & Last, 2005). In specialty clinics in which the affected children are seen, referral to professional psychological support is made rarely, typically only in crisis situations. Many institutions place pride in having embraced family-centered care, but these programs concentrate on empowering parents while continuing to neglect the compelling needs of siblings (Fanos, Fahrner, Jelveh, King, & Tejeda, 2005). Rarely has support for the well sibling been considered a priority, despite the growing body of literature that indicates that siblings of children affected by critical illnesses and genetic disease are at increased risk for psychosocial difficulties (Fanos, 1999a; Strohm, 2001; Taylor, Fuggle, & Charman, 2001).

This chapter will explore the impact of pediatric genetic illness on siblings. We will review the literature on family communication, sibling relationships, trauma and attachment theory, parental mourning, sibling guilt, and shame. In addition to existing literature, we will primarily focus on two serious pediatric genetic disorders, one autosomal recessive (ataxia-telangiectasia) and the other X linked (X-linked severe combined immune deficiency). This will include a comparison of the similarities and differences in sibling understanding of genetic information and perception of carrier status, as well as a comparison of the psychosocial impact on sibling relationships. As research on siblings of children with genetic disorders is relatively sparse, other diseases will be explored as well. Most notably, siblings of children with cancer appear to share the same psychological background and some of the same psychological consequences of the disease (Cuttini, Da Fre, Haupt, Giovanni, & Tamaro, 2003; Zebrack et al., 2002; Zeltzer et al., 1996). Therefore, this chapter will also include the experience of siblings of children undergoing cancer treatment, particularly those who become bone marrow and stem cell sibling donors. Clinical case examples will be provided to illustrate the similarities and differences between disorders, how these affect family functioning, and the sibling relationship. A summary of major issues and future directions will conclude the chapter.

Research Background and Scope of the Problem

While some literature suggests potential positive effects of growing up with an ill sibling (Martinson & Campos, 1991; Packman, 1999; Williams, 1997), more frequently, researchers have reported a negative impact on emotional and behavioral functioning (Balk, 1990; Faux, 1993; Hutson & Alter, 2007; Pho, Zinberg, Hopkins-Boomer, Wallenstein, & McGovern, 2004; Sharpe & Rossiter, 2002). Psychosocial issues for well siblings include resentment, anger, anxiety, depression, jealousy, and guilt; fear of death; and emotional distance from parents (Fanos, 1996; Fanos, Davis, & Puck, 2001; Fanos & Wiener, 1994; Houtzager, Grootenhuis, & Last, 2001). Poor academic achievement, conduct problems, and difficulties in social relationships have been identified in healthy siblings of children treated for cancer (Hamama, Ronen, & Feigin, 2000; Hefferman & Zanelli, 1997).

Unique psychosocial consequences exist in families where one child is affected by a life-threatening genetic illness. Siblings in families with rare genetic conditions may fear social stigma and peer rejection and thus be reluctant to talk to friends about the disease (Hutson & Alter, 2007). Siblings of children affected with genetic conditions may also demonstrate confusion and worry about the differences between being a carrier and being affected and the implication for future offspring (Hutson & Alter, 2007). Studies of adolescent and adult siblings of individuals affected with an inherited disorder, including X-linked severe combined immunodeficiency, cystic fibrosis, and ataxia-telangiectasia, indicate anxiety and depression, low self-esteem and self-concept, poor communication within the family, embarrassment, and guilt that they are not ill (Fanos & Gatti, 1999; Fanos & Johnson, 1995b; Fanos & Puck, 2001). Furthermore, several members of a family may be afflicted with an inherited disorder, and if that disorder is potentially or ultimately fatal, then well siblings may face the trauma of not one loss, but many (Fanos & Wiener, 1994). Long-term negative outcomes in adult siblings of individuals with cystic fibrosis report ongoing difficulties with survival guilt, anxiety, fear of intimacy, excessive worry about others, heightened feelings of vulnerability, sleeping difficulties, and somatic complaints, including headaches, ulcers, or symptoms similar to those of cystic fibrosis (Fanos, 1996; Fanos & Nickerson, 1991).

Studies drawn from the greater body of literature suggest that poor coping and maladjustment in siblings of ill children may be attributed, in part, to parents’ effort to protect the sibling by providing a lack of information about the child’s illness and encouraging minimal involvement in treatment (Fife, Norton, & Groom, 1987; Havermans & Eiser, 1994). On the other hand, positive adjustment has been associated with higher levels of family cohesion and adaptability (Cohen, Friedrich, Jaworski, Copeland, & Pendergrass, 1994; Horwitz & Kazak, 1990), lower levels of family disruption (Sloper & While, 1996), and enhanced intrafamiliar communication (DiGallo, 2003; Murray, 2002).

It is common for families with a chronically ill child not to communicate about the condition within or beyond the family (Fanos & Johnson, 1995b; Fanos, 1999a, 1999b; Fanos & Puck, 2001; Hardy, Armstrong, Routh, Albrecht, & Davis, 1994). Studies of siblings of children with cancer indicate that they cope better when informed about the condition and treatment (Kramer, 1984). Siblings who are not informed often feel excluded and express considerable anger at parents. Good communication prior to the death of a child continues on following the death, and both are correlated with better sibling adjustment (Birenbaum, Robinson, Phillips, Stewart, & McCown, 1989). Open communication between parents and siblings has been related to fewer behavioral problems and increased feelings of competence following the loss (Birenbaum, 1989). Keeping a family secret is a heavy burden for a sibling. Family secrets can lay the groundwork for traumatic responses (Van der Kolk, 1987), which may hinder a sibling’s ability to grieve (Eth & Pynoos, 1985). Eth and Pynoos (1985) emphasized that traumatized individuals must resolve traumatic elements of the loss before they are able to mourn. Many traumatized individuals find it difficult to handle their anxious and aggressive feelings (Van der Kolk, 1987). The symptoms of posttraumatic disorder – amnesia, detachment, obsessive thoughts, reliving the trauma – can occur in sibling loss (Fanos, 1996).

There is little information on how parents communicate the news of life-threatening illness to their children, particularly the healthy siblings. Families with a fatally ill child often struggle with determining whether the physician or the parent should tell the children. Recently, pediatric medicine has recognized the importance of developing a partnership between the health-care team, the child, and the family and emphasizes the importance of information exchange among these groups. New models for communicating with children and families emphasize the integration of medical and non-medical aspects of the illness (Weidner, 2007).

Attachment theory has explored the importance of emotional availability of the parent for the child’s development. Researchers have found the difference between securely and insecurely attached children to be related to the caregiver’s abilities to respond appropriately to the communications of the child (Ainsworth, Blehar, Waters, & Wall, 1978). Pound (1982) found depressed mothers to be impaired in their role, with difficulty being involved with their children’s lives and showing them affection. The presence of a depressed or withdrawn mother can result in various developmental problems for the well sibling, including separation difficulties and disturbance in forming a normally assertive self (Levine, 1982). In normal development, through identifying with the strengths of the parent, the child perceives himself as competent. This sense of confidence may be disrupted when parents have been perceived as inadequate (Wahl, 1976). Self-psychology has described the lack of ability to identify with an adequate self-object as problematic for development of a child’s self-esteem (Kohut, 1977). Siblings growing up in a family with a seriously ill child and depressed and anxious parents would be at risk for vulnerability in their sense of self (Fanos, 1996).

Research suggests that parents mourning the loss of a child grieve longer than was formerly assumed and experience long-term anxiety and depression (Kreicbergs, Valdimarsdottir, Onelov, Henter, & Steineck, 2004; Wortman & Silver, 1989). Frequent maladaptive responses of bereaved parents include idealizing or memorializing the deceased child, refocusing attention on the surviving sibling(s), or unflattering comparisons of the well sibling to the deceased child, all resulting in devastating consequences for the sibling’s self-concept (Fanos, 1996; Fanos & Mackintosh, 1999; Fanos & Puck, 2001; Gibbons, 1992). Parental preoccupation with their own grief can have significant consequences: depressed parents may be impaired in their parenting roles; they may withdraw from other family members or prohibit them from talking about the child if it is too upsetting (Giovanola, 2005). Parental inability to help their children mourn can lead to intense fear and guilt in the survivor sibling (Cain, Fast, & Erickson, 1964). Parental accessibility, open communication, and support of the surviving sibling are vital to healthy adjustment (Rosen, 1985).

A Comparison of Disorders: Autosomal and X Linked

To provide a more in-depth view of the above psychosocial issues of siblings of children with serious genetic pediatric conditions, we present two examples: work on autosomal recessive ataxia-telangiectasia (AT) and work on X-linked severe combined immune deficiency (XSCID). These disorders were chosen to illustrate some of the important differences between disorders in which both parents share equally in genetic culpability, and in which only one parent bears the entire genetic transmission burden. They will be compared to another autosomal recessive condition, cystic fibrosis (CF), the most common lethal disorder of Caucasians. Treatment for CF is extensive, primarily consisting of airway clearance techniques that enlist the help of family members. The impact on siblings has been described extensively in the literature, including books (Fanos, 1996; Summerhayes Cariou, 2006). Therefore, we will not be describing in depth the sibling impact, as we will with the lesser known disorders (AT and XSCID), about which far less has been documented in the literature. Similarities and differences among the three disorders will be explored, and the importance of acknowledging the specific characteristics of genetic conditions in terms of their unique impact on siblings will be discussed.

Siblings of Children with AT

AT is characterized by progressive cerebellar ataxia and oculocutaneous telangiectasiases, immune deficiencies, and increased predisposition to lymphoreticular malignancies (Brown et al., 1997). The gene for AT has been identified by positional cloning (Gatti et al., 1988; Lange et al., 1995; Savitsky et al., 1995). Siblings of AT-affected individuals who are heterozygotic for the AT gene may be at higher risk for cancer (Athma, Rappaport, & Swift, 1996; Easton, 1994; Morrell, Chase, & Swift, 1990; Swift, Reitnauer, Morrell, & Chase, 1987; Vorechovsky et al., 1996) and thus have their own health concerns, unlike carriers for the gene for CF or XSID.

Children with AT appear normal at birth; first signs typically appear in early childhood with delayed development of motor skills, lack of balance, and speech impediments. Due to progressively worsening ataxia (poor coordination and lack of muscle control), most children with AT are eventually confined to a wheelchair by age 10. Other hallmarks of this disease are the small dilated red “spider” veins (telangiectasia) which appear in the corners of the eyes or on the surface of the ears and cheeks. Approximately 70% of children with AT also have immunodeficiency that usually brings recurring and potentially life-threatening respiratory infections. Individuals with AT typically die in their teens or early twenties due to respiratory failure or cancer. Since no cure currently is available, treatment is primarily directed at alleviating symptoms.

Study of Siblings of Children with AT

In a qualitative study of parents and siblings of children with AT (Fanos, 1999a, 1999b; Fanos & Gatti, 1999), 35 siblings from 24 families, including 26 adults and 9 adolescents, were drawn from multiple clinical sites and interviewed for approximately 1 h. Semi-structured interviews were audio recorded and transcribed verbatim. Rating scales were developed on various categories capturing important aspects of family functioning and psychosocial adaptation; inter-rater reliability was obtained. The results illustrate major themes common to disorders with an autosomal genetic transmission pattern and ones with visible difficulties as well as considerable caregiving burden on siblings.

Understanding of Genetic Information and Perception of Carrier Status

Misconceptions about the genetic transmission of AT were common. Less than half of adult siblings responded within an acceptable range of prevalence for AT in the general population (between 500 and 1,000 diagnosed cases). Nearly twice as many of those whose responses were outside the acceptable range overestimated the prevalence (Fanos & Gatti, 1999). This distortion, perhaps due to the saliency of their experience, was similar to responses of siblings with CF (Fanos & Johnson, 1995b). Explanations given in childhood had been difficult for some siblings to understand. Personal carrier risks were underestimated by 84% of adult siblings, particularly noteworthy since these siblings had been exposed to technological advances such as DNA analysis, and therefore are likely more knowledgeable than the majority of families with a child with AT (Fanos, 1999b).

Myths surrounding their carrier status were common. Thirty-five percent of siblings believed they were carriers before giving blood, 11% thought they were not, and 54% had no preexisting beliefs (Fanos & Gatti, 1999). These data may be compared to siblings of individuals with CF, in which 53% of siblings decided they were carriers prior to testing, 15% believed they were not, and 32% had no preexisting beliefs (Fanos & Johnson, 1995b). Believing one is a carrier prior to testing has been reported as a way of sharing somewhat in the experience and thus binding guilt in CF (Fanos & Johnson, 1995a).

Assumptions of carrier status and of the self were transmitted from parental misconceptions. For some families, one parent interpreted the genetic reality as their spouse’s fault. If blame was placed on the father, AT was seen as retribution for prior behavioral transgression. On the other hand, if blame was placed on the mother, her guilt was failing to achieve her biological task to produce a healthy child. Although individuals may have received written information on the genetics of AT, their deeply held beliefs about self and others influenced the way they viewed factual information (Fanos & Gatti, 1999).

Family Communication

Most siblings (79%) reported that communication in their family about the illness had been open. While siblings recalled conversations about the illness and the possibility of an early death, genetics rarely was discussed. Since physical limitations could not be hidden, there remained only one secret to keep – the genetic nature of the disease. The functional limitations due to AT frustrated well siblings, interfering with their ability to play and thus to bond with the affected child. Verbal communication was also problematic since the AT-affected child had a compromised ability to speak clearly. As healthy siblings entered adolescence and experienced widening of their interpersonal networks, the relationship became ever more distant. Interference with the attachment relationship was precipitated by various factors, including the affected child’s locomotor and speech difficulties; withdrawal of the well sibling to avoid the pain of witnessing progressive debilitation; and the sibling’s feelings of resentment, embarrassment, shame, and guilt.

Approximately one-fifth of participants expressed high resentment of the AT-affected sibling. Some siblings reported they had been forced to relinquish a social life to stay home to care for the sick child; thus their own developmental needs were sacrificed. Respondents experienced a role reversal in caring for, and developmentally surpassing, older ill siblings. For some individuals, this role confusion caused disturbances in identity formation (Fanos, 1999a).

Sibling Guilt

One half of the sample was rated as having moderate guilt. Some well siblings felt guilty about having felt resentful toward the affected sibling. A frequent dynamic was that well siblings wished to distance themselves from their brother or sister, felt shame, and then guilt about their feelings. When the well sibling was able to master a developmental stage that the affected child had been unable to reach, they felt guilt and sadness. Some siblings feared their ill sibling resented their ability to enjoy a healthy life. Another common theme was separation guilt from parents, similar to siblings of CF-affected individuals (Fanos, 1996). Those siblings who were able to leave home at an appropriate developmental time felt guilty for their feelings of relief and escape.

Most siblings of AT-affected individuals commented they were “sad” their brother or sister had AT but were relieved that they did not. This differs from siblings of CF-affected individuals, for whom survivor guilt was a major concern, leading to wishes to be a carrier (Fanos, 1996). Sibling identification with the AT-affected child was rare in this sample, probably due to the weakened bond between the dyad. Idealization of the ill child was not an issue for participants in this study, as we shall see in our sample of siblings of XSCID-affected individuals as well (Fanos, 1999a).

Case Example – Sibling of Individuals with AT

Susan was a young woman in her mid-twenties that grew up with two brothers with AT. She always believed that she was a carrier, primarily because of frequent bouts with respiratory illnesses, similar to the symptoms she had witnessed in her brothers. Communication in the family was open; she reported that she knew what she needed to know at appropriate times. Her mother had made it clear to her from a young age that her brothers would eventually become very ill and die.

There were many times when she felt that it was unfair that she could not just be a child free from worries. She reported feeling that she had to take on the role of being both a sister and a mother to them. When she was only 16 years of age, her mother took her out of school in order to help care for her brothers. She feels that she will never forgive her mother for not allowing her to remain in school and to graduate with her classmates. Since being taken out of school, she suffered from serious depression and had frequent dreams of having to protect her brothers from some threat outside of the home. In addition, she had a recurring dream for over 10 years. In the dream, she was running through a field and someone was chasing her to kill her. She knew she had to do something, so she would find a large rock and beat them to death with it. She believes that the dream may have represented her relationship with her mother.

Susan always thought she would never bear children in order to avoid the chance of having affected offspring. Recently, she learned that the gene had been identified and that testing was possible; thus, she is reconsidering her choice. She fears that if she does not bear children, she will be “missing something.” On the other hand, Susan feels that she has already given so much of herself to caretaking responsibilities in her early years that focusing on her own needs would be most important to her at this time.

Siblings of Children with XSCID

SCID is a serious immune disorder; over half of SCID in humans is X linked (XSCID). XSCID is caused by mutations in the gene IL2RG, which encodes a receptor for interleukin-2 and multiple other cytokines (Buckley et al., 1997; Noguchi et al., 1993; Puck et al., 1993; Sugamura et al., 1996). While SCID was inevitably fatal in infancy, the introduction of bone marrow transplantation (BMT) improved the prognosis considerably (Gatti, Meuwissen, Allen, Hong, & Good, 1968). Although early diagnosis and BMT currently enable survival for over 80% of males with XSCID, this treatment has usually required hospitalization lasting several months. Delayed or inadequate antibody production requires monthly immunoglobulin replacement for periods from 2 years to indefinitely, so parents continue to worry about exposure to germs. XSCID is widely known as the “bubble boy” disease, referring to David Vetter, a boy with XSCID, who lived for years in a plastic, germ-free bubble.

Study of Siblings of Children with XSCID

A study was conducted on parents and siblings of boys with XSCID (Fanos et al., 2001; Fanos & Puck, 2001), stemming from the referral of affected probands and their healthy female relatives for genetic testing since 1987. In that year, a family workshop was organized at the National Institutes of Health, bringing together a cross section of enrollees in ongoing protocols, including 132 individuals of XSCID-affected families. For the study cited below, all families who had attended the workshop and could be located were invited to participate.

Forty adult siblings of individuals with XSCID were interviewed from 14 families (37 females, 3 males). One-fourth of siblings were born after the death of their affected brother(s). Of those siblings who were alive when an affected brother died, the mean age of the participant at death of their brother was 7 years. Participants were interviewed, interviews were transcribed verbatim, coding scales developed, and inter-rater reliability obtained.

Understanding of Genetic Information and Perception of Carrier Status

Sixty-two percent of adult siblings had no preexisting beliefs about their carrier status, 23% believed they were not carriers, and 15% believed they were (Fanos et al., 2001). These data are in contrast to adult siblings of individuals with AT, in which 35% believed they were a carrier, and CF, in which 53% thought they were (Fanos & Johnson, 1995b). Several factors may be responsible for the lesser tendency to develop personal myths in XSCID, including slightly higher odds of being a carrier in AT and CF, and the fact that some of these individuals had attended a workshop. Sixteen percent of siblings felt flawed by being a carrier of this mutation. Many siblings felt their carrier status lessened their desirability (Fanos & Puck, 2001).

Severe anxiety about adult sibling’s unaffected child’s health was not an issue in this sample (Fanos et al., 2001), similar to results from the AT study (Fanos & Gatti, 1999). This finding differed from some other serious pediatric genetic conditions such as CF, in which anxiety was more prevalent (Fanos & Johnson, 1995b). There are two possible reasons for the lower anxiety in siblings of XSCID-affected individuals. First, in XSCID, even though daughters may be carriers, they will not have the disease. Second, parents knew their affected baby was sick during his first months of life, unlike disorders such as CF in which the symptoms can develop later. In XSCID, parents are reassured once the health status of the newborn is established.

The characteristics of XSCID, including its mode of inheritance, severe infantile presentation, and current availability of effective treatment, shaped the attitudes of these families; their level of knowledge was superior to those of families struggling with conditions with progressive, relentless deterioration (Fanos et al., 2001).

Family Communication

The majority of siblings of males affected by XSCID felt that communication in their family had been poor, creating an atmosphere laden with family secrets. Parents tried to protect well siblings from disturbing information, and well siblings sheltered parents from the distress of answering questions. Those siblings who were alive during their brother’s illness found it difficult to understand what was happening. Some siblings whose brother had passed away before they were born learned that they had had a brother by accidentally finding an object such as a photo hidden in a drawer. Others did not learn about their brother until their own adolescence, when older siblings divulged the secret and asked them not to tell anyone, including their parents (Fanos & Puck, 2001).

Sibling Relationships

Sibling resentment was not a major problem in XSCID families (Fanos & Puck, 2001). This differs from chronic disorders such as CF, in which the family focuses on the ill child for years, creating sibling resentment (Fanos & Johnson, 1995b; Fanos, 1996). In XSCID, the child either died soon after birth or had a transplant and thus a relatively normal childhood. The need for isolation and fears of contamination had weakened the attachment between the affected and the well siblings; thus, identification with and idealization of the affected sibling were not an issue in XSCID. This is similar to AT (Fanos, 1999a). However, many daughters perceived that their parents preferred male offspring. Thus male gender was idealized, with profound implications for self-esteem for sisters.

Many siblings voiced concerns about separation from their mother during the hospitalization of their affected brother. Often, mothers spent long periods at the hospital with the sick child, away from the rest of the family. Fathers were left trying to balance working long hours away from home while attempting to care for the well children.

Sibling Guilt

Guilt was not a major issue for this sample, since there was little resentment over which to feel guilty. The guilt that was expressed focused on four areas. First, siblings worried that they may have brought germs into the home, particularly if their brother had died. Second, siblings with their own affected offspring felt guilt about being a carrier. Third, mothers who were carriers felt guilty about passing on the carrier burden to daughters. Finally, siblings with no affected males felt guilty watching their sisters endure distressing medical procedures with their children (Fanos & Puck, 2001). In this sample, few sisters expressed wishes to be a carrier, unlike siblings of individuals with CF, who used this wish as a way of binding guilt (Fanos & Johnson, 1995a). In addition, sisters of males with XSCID expressed no belief of deserving retribution.

One-third of siblings chose careers in the health professions, primarily nursing. Several siblings recalled their mother returning from the hospital and praising the nurses who were caring for their child (Fanos & Puck, 2001). The tendency of siblings of ill children to select a medical career has been reported previously in AT in which more than a third of the adult sample had chosen a career in the medical professions (Fanos, 1999b).

Parental Mourning

The majority of siblings believed their mother had never successfully mourned the loss of her son. Those families in which the sibling reported poor family communication were those in which siblings felt their parents had been unable to mourn (Fanos & Puck, 2001). Daughters in families with unresolved mourning felt an intense desire to have a healthy son. This represented both an attempt to repair the mother’s unresolved loss and a wish to repair the injury to the sense of self of being a carrier. This finding had not been encountered in previous studies of CF and AT, both autosomal disorders in which the genetic guilt was shared by both parents.

Case Example – Sibling of Males with XSCID

Beth was in her mid-forties at the time of the interview; she is married and is a nurse. Prior to the availability of BMT, she lost three brothers when she was 7, 12, and 13 years, respectively. Following the first death of a brother when she was 7 years of age, she recalled returning home and starting to cry and having her mother angrily ask what she was crying about. She believes that her mother feels very guilty about being a carrier and that it is exclusively her fault. Many memories of her mother involve her coming home from her brothers’ hospitalizations and talking about how kind and important the nurses were to her and how deeply they had touched her. Beth believes that she became a nurse because of her mother’s deep respect and love for the nurses.

Beth always knew that her drive to reproduce was extremely strong. Since she held the belief that being a carrier implies one is flawed and defective, she wished to feel normal. She did not know if she wanted a child as much as she wanted to be a member in the “mother club.” She also felt that her reasons for wanting a child involved winning a battle and cheating death, so that she could have a boy that would not die. In addition, she believes she wanted to have a son to give to her mother as a replacement for the ones that she had lost. Beth still has a sense of being outside the circle of life.

Comparisons Between CF, AT, and XSCID: Key Similarities and Differences

Many psychological issues for siblings of children are similar in families with a child affected by CF, AT, and XSCID. In all three, well siblings confront the possibility of death of their brother or sister, overwhelmed parents who are depressed and anxious, and serious genetic realities with implications for their own lives. Many families struggling with genetic disease attempt to conceal as much as possible. Families with CF tried to hide the possibility of early death of the affected (Fanos & Johnson, 1995b; Fanos, 1996); families with AT, a highly visible disorder, hid the genetic component (Fanos, 1999a). Families with XSCID concealed the prior existence of affected boys (Fanos & Puck, 2001).

In families in which the illness itself can be concealed (e.g., CF), the possibility of early death for the affected sibling was often handled as a family secret (Fanos, 1996). Consequently, the child’s death was experienced by the sibling as a trauma, resulting in posttraumatic stress disorder (Eth & Pynoos, 1985; Horowitz, 1997; Terr, 1991; van der Kolk, 1987). In CF, watching the ill sibling receive more attention fueled resentment, envy, guilt, idealization of the sibling, and expectation of retribution by being a carrier.

In families with a child with AT, the condition could not be hidden; therefore, it was obvious to the sibling that the affected child needed more attention (Fanos, 1999a). While there was resentment over the burden of caregiving, and interference with identity development, there was little or no envy and less need to idealize the sibling as a defense against guilt over envious feelings (Klein, 1957). However, in AT, the visibility of the disorder disrupted the ability of the family to present itself to others as normal, with efforts exerted to manage the stigma. The embarrassment that this may elicit, and the resulting shame and guilt, is destructive to the sibling dyad and the sibling’s developing sense of self. Thus in AT, the dynamic is one of burden rather than trauma. In addition, siblings felt shame over their embarrassment. The expressed reactions of rage at others for calling attention inappropriately to the sibling’s disability provided evidence of the magnitude of the disavowed shame and self-hatred.

In XSCID, the family secret/trauma was that there had been a brother who was born and died (Fanos & Puck, 2001). If parents did not provide an explanation for their needing to spend more time with the sick child, the well sibling may feel less loved. In XCID, siblings’ perceived abandonment by the mother while she kept watch over the ill child during the BMT hospitalization injured self-esteem. In addition, the X-linked nature of the disorder caused a sense of self as flawed, differing from autosomal recessive disorders in which the genetic responsibility is shared. The desire to have a healthy son on the part of daughters in XSCID is both an attempt to repair the injured sense of self as a carrier and a desire to repair the mother’s loss of her own son.

The specific phenotype predisposes the dynamics in the family that will impact the sibling. Conditions vary in terms of visibility, potential for early death, caregiver burden, and so forth. Medical professionals must take into account differences of genetic disorders they encounter in order to offer appropriate psychosocial support to siblings.

Siblings as Bone Marrow and Stem Cell Donors

Many of the issues that have been presented so far permeate throughout the sibling childhood cancer experience. Childhood cancer can be very disruptive to family life and emotional well-being (Houtzager et al., 2004). It is common for young children whose brother or sister has cancer to be frightened that the disease is contagious and that they too will develop cancer. They may be worried about their sick brother or sister but feel resentful about the attention their sibling with cancer is receiving, guilty for having these emotions and for being healthy, and angry about the lack of physical and emotional availability of parents. When a sibling dies, survivor guilt is a commonly expressed emotion. Siblings who seem to adapt well are those whose parents, extended family, and community provide support; there is an absence of parental depression; the family is cohesive; there is a lack of secrecy; and effective parent–sibling communication about the illness exists (Cohen et al., 1994). In the case of the sibling donor, understanding genetic information is critical whether the transplant is to treat a primary genetic disorder or a malignancy.

Stem cell transplant (SCT) or BMT has evolved over the past two decades from a heroic, experimental therapy of last resort to a first-line therapy for many life-threatening hematologic and oncologic diseases (Lipton, 2003). In addition to malignant and non-malignant disorders and hematologic disorders (sickle-cell disease and thalassemia), allogeneic stem cell transplants may be an appropriate intervention for children with genetic disorders, such as immunodeficiency syndromes, osteopetrosis, and metabolic storage disorders. Among pediatric patients undergoing SCT, 75% receive healthy stem cells from a brother or sister (Packman, Gong, VanZutphen, Shaffer, & Crittenden, 2004). With approximately 2,000 SCT transplants performed annually in the United States with patients less than 20 years old (Center for International Blood and Marrow Transplant Research, 2005), a critical need exists to understand the psychosocial impact of donation in order to guide clinical care (Wiener, Steffen-Smith, Fry, & Wayne, 2007).

The majority of studies examining the psychological functioning in sibling donors are limited to BMT donors. While higher distress in pediatric donor than non-donor siblings has been noted, most studies have been limited by small sample sizes, non-representative samples taken from single institutions, and qualitative and cross-sectional designs (Wiener et al., 2007). Reported psychological reactions to the experience have included depression, withdrawal, behavioral problems, lowered self-esteem, identity problems, psychopathology, guilt, resentment, post-trauma symptoms (Packman et al., 1997, 2004), and anger following the donation procedure (MacLeod, Whitsett, Mash, & Pelletier, 2003; Packman et al., 1997; Wiley, Lindamood, & Pfefferbaum-Levine, 1984). Risk factors for poor psychological functioning include age at donation with a risk of unresolved developmental crises in adolescence (Packman et al., 1997), recipient death (MacLeod et al., 2003), transplant complications such as graft versus host disease (GVHD) or graft failure (MacLeod et al., 2003), limited involvement in donation decisions (MacLeod et al., 2003; Packman et al., 1997), feeling coerced to donate (Packman et al., 1997), limited preparation for transplant complications (MacLeod et al., 2003; Packman et al., 1997), and individual sibling characteristics such as preexisting psychopathology (Packman et al., 2004). In XSCID, resentment of having had to be a donor, threats to the sense of self upon not being chosen to be the donor, and damage to self-esteem upon death of the recipient led to potential long-term negative consequences for siblings, both donors and non-donors (Fanos & Puck, 2001). A positive response to the donor experience, such as improved family relationships, along with heightened intimacy between recipient and donor, has also been described in conventional BMT donors (MacLeod et al., 2003; Wiley et al., 1984).

As sibling donors are actively involved in the transplant process, their experience of the patient’s illness varies from that of healthy non-donor siblings, though the risk for problematic adjustment and behavioral issues may still be present (Stuber, 1996). Anecdotal and descriptive reports address the intense stress that siblings experience as a result of the recipient’s illness, the procedure to collect their own stem cells including possible physical harm to themselves, separation from family during the period of post-transplant hematopoietic recovery, and possible post-transplant complications, including the subsequent death of the patient (MacLeod et al., 2003; Wiener et al., 2008). Whether or not the transplant is successful, each sibling’s family life will be interrupted by the transplant experience. Transitioning beyond the transplant, siblings will have “good days and bad days” and this experience frequently parallels the transplant trajectory (Wilkins & Woodgate, 2007) and his or her pre-illness personality. Therefore, obtaining a comprehensive psychosocial assessment of the sibling donor’s strengths and vulnerabilities prior to transplant and having a solid understanding of how the sibling might cope if the SCT is unsuccessful (including whether the parents might unconsciously blame the donor child) are essential components to the donation process.

The need for such psychosocial assessment and support prior to genetic testing is compelling for families where one child has already been diagnosed with a serious illness. This is often the case when a transplant is under consideration. In such situations, the patient and his or her siblings will be tested to determine their tissue type or human leukocyte antigen (HLA) type. HLA types are determined by molecular typing in which the DNA of the recipient and prospective donor are characterized to identify specific genes that direct the formation of the HLA antigens on the surface of cells. Similar to waiting for genomic information to be disclosed, significant anxiety is often manifested while waiting to find out if a match is available. The following vignette illustrates this distress as well as the importance of family communication, sibling relationships, and guilt.

Case Example

Samuel was diagnosed with acute lymphoblastic leukemia at 11 years of age and was treated with standard chemotherapy. He was in remission for 2 years before relapse. At this point, an allogeneic SCT was recommended and the family began the process of HLA typing. Sam lives with his biological parents and younger sister. Sam’s sister Dawn presented with anxiety manifested by difficulty sleeping, clinginess, and frequent crying spells a week prior to her appointment for HLA testing. This was followed by the development of a facial tick, complaints of stomach and chest pains, and eventual school refusal. A psychological exam elicited persistent worrying focused on fears associated with losing her brother, finding out she was a match and having to undergo a medical procedure to collect her stem cells, and/or learning she has or will develop cancer. Dawn expressed profound guilt associated with the possibility of being a match and her brother subsequently rejecting her stem cells, getting sicker, and dying. She also expressed frustration that her brother is often “mean to her” and that their relationship has been “awful since he got sick.” She wondered if he would do the same for her if she were diagnosed with a life-threatening disease.

Counseling with Sam’s sister and family was initiated prior to testing and focused on education surrounding the testing, the impact of her brother’s diagnosis on the family, reduction of guilt, sadness about the changes in their relationship and the lack of closeness she was feeling, and learning new ways to communicate effectively within the family. Counseling continued during and after the waiting period, and this provided Dawn and her family with additional, much-needed psychological support. Some important issues to consider prior to testing include the psychological benefit to the child, competing interests between the child and the parents/family, whether the child can give informed assent/consent, and whether the timing to undergo testing is right in order to make a psychological assessment and prepare the child and family for testing (Chittenden, 2009).

Preparation: Assessment and Interventions

With no published data-driven clinical guidelines, psychosocial and medical practices pertaining to donor preparation and assessment vary from center to center and are largely based on anecdotal evidence, provider preference, and clinical experience (Phipps, 2009). However, due to the known stresses of donation, donor assessment prior to, during, and following transplantation is recommended, depending on the age of the donor. Investigations should include multiple measures of psychosocial adjustment as well as qualitative designs that allow investigators to learn from the donors themselves how they are coping with the SCT experience. A separate interview with the prospective donor is recommended beginning at approximately the first grade age level. In addition to conversations and assent documents, written material should be provided to donors and their parents. Depending on the donor’s age and learning style, this could include booklets, coloring books, and videos, in addition to one-on-one conversations with members of the transplant team and other sibling donors about the SCT.

Pre-implantation Genetic Diagnosis

When SCT is the treatment of choice, compatible donors may not be available. In such cases, parents might consider in vitro fertilization (IVF) and pre-implantation genetic diagnosis (PGD). PGD allows parents with a child suffering from a life-threatening disease to select an embryo that will be a perfect tissue match with an older sibling. The baby’s stem cells are then transplanted to the affected sibling with the hopes of curing the disease. The introduction of technically sophisticated treatments such as PGD into the clinical setting may have a powerful potential to prevent illness and cure disease in novel ways, but determining whether the embryo (and potential child) would be a suitable tissue donor for a seriously ill sibling, when there is no actual benefit for that potential child, introduces clinical, ethical, and social dilemmas (Brown & Webster, 2004).

In fact, since its emergence, PGD has sparked controversy and been opposed by many groups. While evidence shows that PGD is safe with children born following IVF and has no higher rate of birth defects than children of normal pregnancies, ethical issues concern conscientious objection to direct participation, discarding of healthy but unsuitable embryos, and valuing “savior” or “designer” siblings in themselves, not just as means to the other sibling’s ends (Bennett, 2005; Dickens, 2005). When PGD is being considered, it is essential that physicians and counselors assess the parent’s motivations to assure that the donor child is not at significant risk of harm and exploitation. Some questions to review with parents include the following: Will the child be expected to provide whole organs to the older child later in life if that is necessary? What psychological effect will this have on the child, the older sibling, the rest of the family? (Kahn & Mastroianni, 2004). Most parents will welcome suggestions on how best to explain the unique circumstances surrounding their birth when their children are old enough to understand.

Since siblings may be at risk themselves for a related disease, genetic testing is often considered for the well siblings in the family. Even with evidence of clear medical benefit, the psychosocial risks and benefits for the child and the family for these patients should be assessed, discussed, and weighed appropriately. If the issues have been thought through and the family and provider decide to go forward, then genetic testing has the potential to be a powerful tool in arming the family with knowledge to aid them in early detection and/or prevention of disease (Chittenden, 2009).

Summary and Conclusion

This chapter explored the impact of serious pediatric illness on siblings. We reviewed the literature on family communication, sibling relationships, parental mourning, and sibling guilt and shame; focused on several serious pediatric genetic disorders; and described their differential impact on siblings. The psychosocial effect of BMT and SCT on siblings has also been discussed.

Providing attention to the psychological health of the well sibling is critical. About 20–30% of children in the United States suffer from a chronic disease or health condition, many severe enough to impact daily life (US Census Bureau, 2005). The vast majority of these children have well brothers or sisters. Increasing recognition of the unique needs of siblings of children afflicted with serious conditions can be seen in the burgeoning body of support groups for siblings such as Sibshops (Meyer & Vadasy, 1994), summer camps such as Camp Okizu (Packman, Fine et al., 2004), and children’s books with such informative titles as I Wish I Was Sick Too! (Brandenberg, 1978) and When Brothers and Sisters Get Sick (Peterkin, 1992). Regional support programs such as the Sibling Center in San Francisco (Fanos et al., 2005), as well as national programs (SuperSibs.org), and web sites for sibling support (e.g., “Band-aides and Blackboards” and “The Sibling Connection”) attest to the growing awareness of and response to the need.

Siblings of children with known genetic conditions face several challenges. Not only do they encounter the complexities of family dynamics that evolve in situations with a chronically or seriously ill child, they face the prospect of genetic implications for their own lives and that of their children. New genetic discoveries will have sobering implications for numerous childhood illnesses that currently are not specified as genetic. Newborn screening programs will identify an ever-increasing list of conditions about which little is known. Indeterminate and ambiguous results will cause parental distress and preoccupation that may interfere with the ability to parent both the affected child and the siblings. Since brothers and sisters in families in which a child is identified with a disorder through newborn screening may not be able to be tested until they are adults, sibling relationships may be affected in important ways. All of these recent developments need to be addressed in future research.

Medical professionals must recognize the seriousness of the impact of pediatric illness on the well sibling and develop effective models of providing support. Siblings will create various modes of growing from and mastering their experience, as many already have done, and achieve resolutions that will lead and inspire others. With unique and powerful voices, siblings will tell the story of their experiences in the years to come.