Getting a diagnosis

Diagnosis can come in a number of ways and at different times, and each will have its own set of issues for you to deal with. This section discusses diagnosis before birth, at birth, in the infant years, and as a teenage or adult, and also looks at the issue of undiagnosed conditions (use the links in this sentence to jump to the subsections).

You will also find good online information on grief and loss on the website of Skylight, a Trust that provides counselling and information for children and their families. Their links provide information suitable for people of all ages.

Diagnosis before birth (prenatal)

For some people there may be known risk factors in their family, and you may be seeking advice on how to respond to that. Specialist services like obstetricians or the Genetics Service may be the best source of advice for you. We suggest you discuss with your doctor the possibility of a referral to one of these services, if you want advice on how to avoid or reduce the risk.

Standard screening tests early in pregnancy may also identify risks from infection or other causes. Sometimes these can be controlled.

If you are advised in pregnancy of a risk to your baby, you will be offered prenatal testing to see if the foetus is affected. You can choose whether to have the test or not. It is entirely your choice. Detailed advice should be given about the risks and the tests that are offered, before you make your decision.

If you do take up an offer of prenatal testing, it could have a number of impacts on you:

  • Some intervention may be possible to treat the condition before or at birth.
  • The test may reduce anxiety and confirm for you that the foetus is not affected by the condition that is being tested for.
  • If the test results show the disorder is present and you decide to continue with the pregnancy, it will give you time to adjust and prepare yourself and others, for a baby that may be different, and have extra needs.
  • If the test shows the disorder is present, you may choose not to continue with the pregnancy.

In all situations related to prenatal testing you should be offered counselling around the risks, testing options and the meaning of test results. Remember the choice is yours to make. There should be no pressure on you to think or act in any particular way. The counselling process is there to ensure you are well informed about all aspects of your circumstances, and are supported to make your own decision.

We recommend the counselling services that are accessed through the Genetics Service as providing the highest quality of information and support, within a strong environment of ethics and standards.

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.

Diagnosis in the infant years

The diagnosis of rare disorders can be particularly difficult in infancy. The symptoms of many disorders may not be apparent in the neonatal period. Some are slowly progressive conditions and clues may start to appear gradually, only when the baby develops more slowly than others. But as there is always a range of rates at which all children progress, it may be difficult to distinguish situations that do need further investigation. Crawling or rolling over later than other babies is not in itself a reason for concern. If you are concerned, talk this over with your doctor or Plunket nurse. Discussion about your baby's progress is likely to result in a clearer assessment of whether more investigation is warranted.

Be aware that if you start to have concerns about your baby's progress, there will be a natural tendency for others to be reassuring that all seems OK. Unless there are clear indicators, the chances are probably 50/50 that either you or they are right. This can lead at times to feelings you are not being taken seriously. If this occurs, try finding someone who can help you plan your approach to your health professional, and support you in expressing your concerns.

In the past much diagnosis relied on observation of development over time. Now there are many more specific tests available, so referral for assessment by a Paediatrician should tend to happen sooner than it previously did, if there is some doubt.

Where there is an agreed concern that your baby may be "failing to thrive" or if there are other indicators that something is not quite right, you are most likely to be referred to a specialist Paediatrician at the public hospital. The Paediatrician will do a detailed assessment and will have access to a variety of tests and other specialists in areas like Orthopaedics, Neurology, Cardiology, Audiology, etc. In their role as care co-ordinator the Paediatrician can also involve other services such as the Genetics Service for specialist diagnostic tests, or refer if appropriate to the specialist Metabolic Service for further advice and specialised testing. In some cases samples of blood, urine or tissue will be sent to laboratories here in New Zealand or overseas, to do further testing for particular disorders.

When a diagnosis is established there should be clear information provided about the professionals who will provide ongoing treatment and care, and where several are likely to be involved, one of them should take the role of key worker to co-ordinate the health and disability needs of your child.

Teenage or adult-onset diagnosis

This refers to conditions which are often present in the person, but the symptoms do not appear till the teenage or adult years. They pose a unique set of problems for diagnosis and a whole new set of issues for the person and their family. In some cases it is possible to test for them in infancy, but the accepted wisdom is that testing of such conditions should not occur in childhood, unless symptoms are likely to appear in childhood, and there is also some treatment or intervention that is available. It is considered in the child's best interest that they enjoy a childhood free of that knowledge, and deal with any adult problems when an adult.

The emotional issues will still be significant in circumstances where a diagnosis arises for a teenager or adult, and there will be different dimensions to issues faced by families with a newly diagnosed baby. The young adult will need support and opportunities to deal with their feelings, as will the parents.

Other aspects of later diagnosis revolve around the fact that regular medical care is likely to be from a General Practitioner. As general practices often have a primary focus on symptom management, there may be some delay till an appropriate referral to a specialist occurs. We suggest you raise the issue of a specialist referral with your doctor, if problems are persistent.

Undiagnosed conditions

A particularly difficult situation arises from time to time, when the specialists and geneticists have been unable to come up with a clear diagnosis to explain a set of problems that are obvious but unexplained. Often multiple problems may be present. Some conditions do defy clear diagnosis, but fortunately this is much less common than for previous generations.

The ideal situation is that all problems would be accurately diagnosed so that any treatment or other intervention can be made as soon as possible, and risk factors for other family members or future children understood. However, there may be a tendency to stop searching for a diagnosis once conditions for which some treatment or intervention exist have been discounted.

Given the increasing knowledge of diseases, the pace of research into rare disorders, and  improved clinical management, we think continued efforts should be made to give a complete diagnosis for even the rarest conditions.