Getting a Diagnosis

Introduction: Diagnosis before birth / Diagnosis at birth or soon after / Diagnosis in the infant years / Teenage or adult-onset diagnosis / Undiagnosed conditions

Diagnosis at birth or soon after

In many cases the first sign of an abnormality may be apparent at birth and a diagnosis quickly made. This will be a sudden shock at an otherwise joyous moment. It may be doubly difficult to be in the presence of other mothers whose babies seem healthy and strong. Feelings of isolation may be strong for you and we recommend you find someone to share your feelings with. Your partner or family may be a source of strength but may also be dealing with their own reactions. A health professional or a counsellor may be a good source of support to help you comprehend what has happened, and to cope with it.

Some conditions may be diagnosed shortly after birth. The newborn screening programme operated by the National Testing Centre at National Women's Hospital tests blood spots taken from the heel of new babies. These tests identify a particular set of conditions that would show up in childhood, and for which some treatment or medical intervention is available. Results of these tests will be conveyed very early in the child's life, and enable treatment to manage symptoms.

You should be given clear information about the action proposed to treat or manage your child's condition and a medical practitioner to oversee the child's care. If this is not made clear, ask for information about this. For ongoing and complex conditions there should be a support team with a key worker to co-ordinate your child's health and disability needs, rather than an unconnected cluster of professionals.