Genetic disorders are diseases that are caused by an abnormality in the genome. Abnormalities can range from a small mutation in a single gene to the addition or subtraction of an entire chromosome or set of chromosomes. Most Genetic disorders are present from birth and are quite rare, often affecting only one person in every several thousand or million. Genetic disorders are usually heritable and are passed down from the parents’ genes. Other defects are caused by new mutations (changes) to the DNA. In these cases the defect will only be heritable if it occurs in the germ line (i.e. a line of biological cells called germ cells that give rise to gamete – cells that fuse during fertilisation – e.g. ovum and sperm).
There are many different types of genetic disorders, all with different features of their own. For specific details on the individual features of specific genetic disorders go to the association websites for each genetic disorder or Wikipedia. Some of the commonly seen genetic disorders include:
Diagnosis alone is NOT the solution. It simply opens the door to getting the help that is needed by arming all involved with the relevant information.
The ‘help’ still needs to be provided. The help that is provided (at least from a therapy perspective) will reflect:
More specific implications of not seeking treatment will be influenced by the common difficulties that are most influencing your individual child.
For more information see the relevant fact sheets under areas of concern or refer to the other relevant resources section below.
Diagnoses are used to label a specific set of symptoms that are being experienced by a child. This label then helps to narrow down and specifically tailor what:
A diagnosis helps the child and their carers (parents, teachers, health professionals, carers) to:
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