A syndrome is a pattern of features which 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.

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

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

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.

Doctors will sometimes say that a child has an “undiagnosed rare condition” or an “undiagnosed genetic condition” when they assess that the child’s features strongly suggest the child has a genetic condition, but they 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, meaning the diagnosis relies on the doctor recognising this rare condition based on searching databases and medical literature, as well as their medical experience.

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 percent 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.

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.

Genetic counselling is the communication process that aims to provide an individual or parent with current information and supportive counselling regarding problems in growth, development or health that may have a genetic basis. This can assist parents and individuals to understand and adjust to the diagnosis of a genetic condition (or lack thereof) and its implications, and to make informed decisions.

Genetic testing can be offered when appropriate, and genetic counsellors may assist in the making of informed decisions with regards to these genetic tests. Genetic counselling is practised in a non-directive manner. This means that individuals will not be “directed” or told what decision they should make. Genetic professionals are not in the business of trying to pursuade people. Their role is to explain the facts as clearly as possible, giving the person or parents accuate information on their options in a way that they can undersand, and helping them to make up their own minds.

While genetic counselling is not a form of psychotherapy, genetic counsellors are trained to offer support and refer parents on to other sources of assistance where required. In some situations this may include social workers and counsellors or psychologists who specialise in specific areas relevant to the needs of the families they see.

Source: http://www.genetics.edu.au/Information/Genetics-Fact-Sheets/Genetic-Counselling-FS3/view, http://www.bsgm.org.uk/information-education/for-patients/