Definitions

What is a sign?

A medical sign is a feature detected by a doctor.

What is a syndrome?

A syndrome is a pattern of features that are recognised to occur together in a person and that have a single cause. These features can be symptoms the person experiences or signs a health professional observes. The presence of features of a syndrome tells the health professional to look for other features.

What is a symptom?

A feeling or observation an individual notices about their own body, such as pain, fatigue or nausea.

What is a genetic condition?

Any health problem caused by a change in a person’s genes or genetic material.

What is a medical diagnosis?

A medical classification of an individual’s health problem. By making a medical diagnosis, health professionals can then understand the likely underlying cause of the health problem.

What is an undiagnosed condition?

Doctors will sometimes say that a child has an “undiagnosed rare condition” or an “undiagnosed genetic condition”. This occurs when a child’s features strongly suggest that they have a genetic condition, but doctors are unable to find a diagnosis for certain characteristics or symptoms. There are thousands of rare genetic conditions. Some of these have only been reported in fewer than five children. Many still do not have a diagnostic test available. This means a diagnosis relies on doctors’ medical experience and their searches on databases and in medical literature.

For these reasons, finding an underlying diagnosis for many conditions can be a very long and frustrating experience. A diagnosis can take as many as five years, and sometimes may never happen, especially with rare conditions. In addition, some experts say that between 30 to 40 per cent of children with special needs do not have an exact diagnosis.

This can be very difficult for parents, who may seek a diagnosis for many reasons. Some parents want a diagnosis to be able to access a doctor who has special knowledge of this condition. Unfortunately, because many of these conditions are extremely rare, there is often not a doctor who has seen many (or any) similar cases. For this reason, it may take a doctor a long time to match symptoms to a possible diagnosis.

What is a genetic counsellor?

A genetic counsellor has specialist training and knowledge in genetics, counselling, and communications. They are not doctors but often work as part of a team alongside geneticists (genetics doctors) and other clinical specialists, such as neurologists.

Genetic counsellors can provide information about testing options and can help translate medical jargon into everyday English for patients in a non-biased form. They do not tell a patient or their family what to do but instead provide them with current information for families to make informed choices and decisions.

A genetic counsellor can help patients and their families understand and adjust to a genetic diagnosis (or lack of one) and its impact. They provide emotional and practical support to people to help them manage the diagnosis adjustment phase or risk of a genetic condition. They may refer patients to other supports such as social workers or psychologists.

Providing information and support to families caring for a child with an undiagnosed or rare genetic condition.

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