Diagnosis of an abnormality now frequently happens in pregnancy from screening tests or from ultrasound scans, all of which are routinely offered. Termination of pregnancy is offered when results are positive. Although negative tests by no means guarantee normality, they are often interpreted by the parents as meaning that major disability is ruled out. Hence their disappointment when a child is born with a defect is even more intense, and it often follows a prolonged highly anxious period in which the baby is in special care. Initial hope is followed by temporary relief and then by the reality of gross developmental delay. Others believe they have a normal child until they become aware of the slowness of development or the onset of seizures occurs in the second half of the first year. Parental reaction to these tragedies is often anger mixed with grief.

A major change in recent years has been the rapid expansion of intra-vitro fertilization. Although accurate figures are not available, it is estimated that at least 10 000 babies are born in the United Kingdom. Foetal abnormalities are more common than following normal conception as evidenced from clinical reports, but there is no data available about the effect on the parents who already have had much anxiety.

The feelings that parents experience have been likened to those of grief occurring with a sudden loss. It is a useful comparison as there is a loss. Every expectant parent daydreams about the child and the arrival of a sick or damaged baby destroys many of those dreams. Commonly the first stage is shock or a numb disbelief. The next phase is often denial, ‘This cannot be happening to me’, followed by anger, which may be directed against the other parent, the doctor, or God. The last two phases are constructive active adaptation, which might involve learning about the condition or joining a parents association, leading on to resolution. Unfortunately, not everyone goes through all these stages and certainly not at the same rate. The mother might still be feeling as if she is shell-shocked while the father is making contact with a particular society or support group on the Internet.

Down syndrome is the most common disorder recognizable at birth and known to be likely associated with intellectual disability. Despite screening in early pregnancy, the condition is still common but is now often in the child of younger parents. Genetic diagnosis of unusual children is more rapid than hitherto. Parents are almost without exception relieved by a clear diagnosis, providing an explanation of why the condition has arisen as well as an estimate of future risk. Most families are also greatly helped by meeting others with similar problems. Parent support groups for each specific diagnosis are now worldwide and recruits are quickly introduced
to information via the Internet. Some diagnoses have implications for other members of the family, as with fragile × syndrome or tuberose sclerosis, as some relatives may have a minor form or be carriers, with a risk of further children in the family being affected. Genetic counselling is essential and may be requested very early on, in pregnancy or even before conception. To be preventative, decisions have to be made fast and at times when young couples are at their most vulnerable.⁽⁴⁾

Informal support from the family or neighbours is much more effective than more formal, professionally led support. Frequent outpatient appointments where little happens are not cost-effective for the family; often the father loses money as he must take time off work and the cost of travel with a difficult baby or toddler is high. Not all can benefit from discussion groups of parents, and other mothers find a succession of home visits from a variety of professionals very disruptive. Families with active participation in religion can strengthen family ties, especially among immigrant groups, such as Hispanic people in the United States, and Indian families, where Hinduism is central to family life and where children have specific roles to play, such as that of sons in funeral rites. A child with an abnormality makes many parents look again at their fundamental beliefs, but few make lasting changes. Other families find membership of other groups (social, cultural, even sporting) supportive, provided that the family feels that they and their child are unconditionally accepted.

The finding concerning the greater efficacy of informal support holds true for families of children across the whole age range, from school entry to adult life. The children are enrolled into school or special preschool groups earlier than normal brothers and sisters, thus widening the informal network of friends and confidants. Conversely, policies about choice of school, and the frequent necessity for children to be sent to schools at a greater distance away from home than other children, can lead to ostracism often felt more by the mother than by the child himself. An advantage of a special school is the relatively small size, allowing personal teacher–parent association and an open-door policy to parents, who are agreeably surprised to find themselves enjoying the school years of their disabled children.

For many years, families have learnt to work in partnership with schools, and enjoyed frequent contact with teachers, face to face or thorough the progress book that goes to and from school everyday. The last few years at school are much concerned with the choice of type of further education, sometimes residential, and with encouraging independence. The process of finding a suitable and acceptable place is often described as a lottery or a battle, and is very stressful for the parents. Many have struggled through the school years, hoping that a permanent placement will be found when they come to an end. Others fear the loss of their close contact with their child, particularly if given adult rights to make choices, with which the parents do not agree. The possible outcome is one of three: independence, semi-independence, and dependence.