Canam (1993) identifies acceptance as the first phase in the process. Seeking answers and a reduction of uncertainty are integral to this but a definitive diagnosis is not always available, particularly if the condition is rare. If the condition is one that is already ‘in the family’ the difficulties can vary. Many families may be accepting, with an established support system, but other parents have to cope with accusations of ‘irresponsibility’.

One factor that can have an impact on accepting a condition is its visibility. The shock of a major physical abnormality can be profound and the reactions of others on first meeting the child serve as a reminder of this. Lack of visibility can also make it more difficult for the family and others to accept. When the condition is associated with behavioural problems (such as autism or Tourette syndrome) its physical invisibility frequently presents problems with tolerance and understanding from others, both within and outside the family.

Fanos (1999) reported how acceptance by siblings may be influenced by the visibility of a condition in an affected brother or sister. She noted that the visibility of ataxia telangiectasia (a recessive condition characterised by unsteady gait and involuntary movements) caused less resentment of the time given to the child, less guilt and less tendency to idealise the affected sibling, than children with cystic fibrosis. However, it was associated with more embarrassment and shame.

The problems of coping with the practical matters of everyday living when a child (or any family member) has a chronic illness have been widely reviewed (see Chapter 44). A crucial factor in dealing with the problems are resources, including time, energy, money and social support systems, and the availability of all of these over an extended time. The extent of the resources needed will vary according to the specific condition. With a condition such as cystic fibrosis, for example, the child will need daily physiotherapy, regular visits to clinics, careful supervision of diet and may require frequent periods of hospitalisation. Medication will need to be given and regular supplies maintained. The extra workload may make full- or even part-time employment impractical for one parent. In managing the condition on a day-to-day basis, then, the parent may have to adjust to reduced career prospects, loss of role and problems with self-esteem. The latter may be a factor of the feelings of guilt at having passed on a condition to the child.

The nature of the condition and how debilitating it is will clearly be a significant factor in how well the developmental needs of the child can be met. The instinctive desire to protect the child can be further fuelled by feelings of guilt, predisposing to ‘spoiling’ and children may take advantage of this. Labelling of the child by the family or by others can further compromise the situation.

Fanos (1997) reminds us that the accessibility of a parent for the psychosocial support of a child is a crucial factor in his or her well-being. If the condition is an autosomal dominant one, a parent may already be trying to cope with his or her own illness, or that of the partner. With one (or more) child affected by a condition, the accessibility of the parents will be compromised – more so when they are grieving the death of an affected child. With frequent hospital stays, the availability of a parent on a day-to-day basis will also be severely limited. In a later study of the impact on siblings of boys with severe combined immunodeficiency disorder, most expressed distress over the prolonged absence of the mother during hospitalisation of the ill brother (Fanos & Puck 2001). They concluded that parents need help in balancing the needs of well siblings with those of an affected one.

Sickle-cell disease and cystic fibrosis (both autosomal recessive conditions) are typical examples of how the pattern of the illness is one of continuous stress, managing the condition on a daily basis with a regime of medication and other therapy, interspersed with crises, both familial and medical. A child in sickle-cell crisis (where the abnormally shaped red blood cells can cause infarction and necrosis) and a chest infection in a child with cystic fibrosis require prompt hospitalisation and aggressive clinical intervention. The gradual deterioration of a child with a degenerative condition such as Duchenne muscular dystrophy (X-linked) as he becomes increasingly dependent on his family, also provokes continuous stress.

The day-to-day fluctuations in condition and the uncertainty this brings make a major contribution to stress (Nereo et al., 2003 and Locker, 1991). To this symptomatic uncertainty is added the trajectory uncertainty of being able to predict the course and outcome of the disease. This is not only because of individual variation in gene expression, but also because of advances in management in a fast-moving research field, underpinning hopes for more effective treatments or even cure (through gene or stem cell therapy) in the future.

It is important to acknowledge the positive contribution that the child makes to the family, irrespective of the nature of the condition. Kearney & Griffin (2001) conceptualise the experiences of parents of children with developmental disability as being a dynamic between joy and sorrow. Although there are undoubtedly negative experiences, these can be balanced by positive feelings such as hope and humour. As McGowan expresses it: ‘My sons are special people, beyond their genetic flaw…’ (McGowan 1999 p 199).

Nonetheless, the sorrows can be profound and long-lasting, and other feelings such as guilt, blame, anger, fear, anxiety and depression can also be difficult to cope with. One factor that may be more apparent in families with a child affected by a genetic condition is the feeling of guilt. This can take the form of ‘survivor guilt’ in unaffected family members, including children. In one study examining the long-term psychological effects of genetic testing for a hereditary colorectal cancer, some children with a negative result and a positive-testing sibling demonstrated an increase in symptoms of anxiety at follow-up (Codori et al 2003).

The guilt that parents can feel can be overwhelming. In his book about his daughter Alex, Frank Deford recounts eloquently the impact of genetic disease on family life (Deford 1983). Alex had cystic fibrosis, and she lived until she was 8 years old. The story of Alex’s life, of the family’s struggle with her disease, and of her death is indescribably moving and essential reading for any children’s nurse. Deford captures some of the feelings that many parents may experience in this situation:

He goes on to say:

Of course, such feelings are not the prerogative of parents in this situation. Many parents will blame themselves for contributing in some way to their child’s condition. However, with genetic disease, particularly the single gene disorders and chromosomal conditions, the cause may be clearly attributable to one or both parents. Furthermore, as the condition may be passed on to future generations, this may be accompanied by ongoing guilt and fear that subsequent children will also inherit it.