California Pacific Currents 2001
The Forgotten Children: Well Siblings of the Very Ill
Joanna H. Fanos, PhD
Serious pediatric illness is devastating to the sick child as well as the child's family. Certain childhood genetic disorders, such as cystic fibrosis, are potentially tragic diagnoses. And in the face of such a diagnosis and illness, it is understandable that attention, time and caring is frequently focused on the sick child. However, many of these children have siblings who are negatively affected by the experience in ways that are only beginning to be understood.
This lack of understanding is partly because there has been little clinical study or research on the effects of childhood illness and death on physically well siblings. To address this challeng-ing situation, Joanna H. Fanos, PhD, a senior research psychologist at the Research Institute and the Medical Center's departments of Pediatrics and Psychiatry, has worked with hundreds of family members affected by severe childhood illness. Her research has contributed to a growing body of work published in the medical and scientific literature and is the foundation for her book, Sibling Loss, published in 1996. In addition to her research and writing, she is a lecturer in psychology at California State University, Hayward, and San Jose State University.
Fanos' work, funded in part by the National Human Genome Research Institute of the National Institutes of Health, centers on the long-term impact of growing up with a sibling with a chronic illness, particularly those caused by abnormal genes. It explores how chronic illness or death of a sibling can lead to the development of many psychological disorders. “Brothers and sisters frequently ‘fall through the cracks' of the medical system because they have no formal relationship with the medical community,” says Dr. Fanos.
Genetic Diseases in Children
Cystic fibrosis, one of Dr. Fanos' major areas of study, is an inherited disease that is characterized by abnormalities in the glands that produce sweat and mucus. Cystic fibrosis is chronic and progressive and may be fatal. Complications frequently entail respiratory difficulties, poor growth, liver disease, and even diabetes.
Dr. Fanos also works with families of children who suffer from ataxia-telangiectasia, an inherited disease whose most obvious symptoms are visible telangiectasia (small or terminal blood vessels) in the white of the eye, ear, and nose; irregular skin pigmentation; and an unsteady gait. Currently, there is no cure for the disease.
A third area of focus for Dr. Fanos has been on X-linked severe combined immune deficiency, a rare disease that profoundly impairs the immune system of boys (the “boy in the bubble” disease). It was previously fatal but now can be treated with bone marrow transplantation. Survival rates for bone marrow recipients are greater than 80 percent. However, treatment and transplantation generally require hospitalization for several months; thus, the burden on the family is substantial.
The Impact on the Well Sibling Varies
Responses to these illnesses vary. For example, in her research, Dr. Fanos has found that families of children with cystic fibrosis rarely discuss the possibility of the death of the sick child. Since the well sibling may not understand the seriousness of the illness, resentment is a common response. “This can get to the point where the sibling expresses a desire to be a carrier himself, or to have some other threatening illness—‘to have my own disease' as one sibling put it,” says Dr. Fanos. Then if the child dies, the sibling feels guilt over prior resentment.
Because the symptoms of ataxia-telangiectasia are more obvious—with severe muscle and movement disorders and skin changes—siblings feel less resentment at the attention given their sick brother or sister. They also feel less identification and more shame and embarrass-ment. In X-linked severe combined immune deficiency, issues of abandonment are not uncommon among well siblings whose parents are absent during long periods of hospitalization and isolation of the ill child.
Due to the different manifestations of genetic disease, genetic counselors must be aware of the most appropriate counseling for the family. For example, Dr. Fanos found that because of a lack of communication in many cystic fibrosis families regarding the possible death of the child, when death did occur, it was not only traumatic but unexpected as well. Family members were often unprepared and typically did not have counseling or a support system in place to help them through the tragedy. In the event of the death of the child with X-linked severe combined immune deficiency, the entire family will need help mourning the loss as well as keeping the lines of communication open so that issues of carrier status and risk can be discussed with the surviving children. In ataxia-telangiectasia families, the affliction is so prominent that an additional challenge for caregivers is to deal with the burden and perceived shame of the disease, as well as the very real potential for fatality.
Early severe illness or loss of a sibling is frequently formative and can show up later in life as depression, anxiety, guilt, or other psychological disorders. The challenge for researchers and clinicians alike is to deliver an effective, proactive intervention that will help families, and especially siblings, as they confront the difficulties of living in a family with a child who has a serious disease. The Sibling Center is being proposed to tackle that challenge.
The Sibling Center
Dr. Fanos has developed a proposal for a Sibling Center as a preventive clinical model to address the psychological and behavioral issues that face the well sibling. Psychological assessments of parents and well siblings will lay the groundwork for counseling agendas.
Counseling—the clinical component of the Sibling Center—will be targeted to determining emotional and behavioral responses to the illness, family communication problems, school difficulties, and the effect of parental mourning. The Sibling Center also involves an educational component that will disseminate information to providers, patients, and the community to increase awareness of the needs of siblings of children with serious illness.
“Increasing the awareness among the health care community of the pressing needs of these forgotten children, the well siblings of the seriously ill, is a first step in developing a program and a place where these at-risk children can be treated in a proactive, caring, and comprehensive manner,” says Dr. Fanos.
Genetic Testing:The Importance of Not Knowing
Approximately 1 in 20 people are carriers of the gene that causes cystic fibrosis. Carriers are not affected by the disease and may be unaware of their carrier status. Of those who have a sibling affected by cystic fibrosis, carrier status is unknown until genetic testing is done. Now that the gene responsible has been identified, genetic testing is available but not widely utilized, even among relatives of those afflicted. Dr. Fanos studied the reasons for this low utilization.
“We found numerous barriers to carrier testing, all the way from ignorance of the availability of the test, to misconceptions regarding carrier status, to fear of the implications regarding interpersonal desirability, guilt, and denial. Our findings among cystic fibrosis siblings suggest that remaining unaware of carrier status serves significant psychological functions for some individuals at risk. These conclusions may apply to testing for other genetic disorders as well,” says Dr. Fanos.
The discovery of the genes that are mutated in ataxia-telangiectasia and X-linked severe combined immune deficiency now allows for the identification of carriers. Yet siblings of children with these diseases have numerous misconceptions regarding carrier status and genetics. “Provision of factual information about genetic transmission is necessary, but unfortunately insufficient to counter deeply held views,” observes Dr. Fanos.
The challenge for clinicians—in addition to becoming conversant with genetic testing options—lies in clear and direct communication regarding probabilities and the degree of risk a genetic testing result confers.