Understanding genetic conditions
A genetic condition is a disease or disorder that occurs as the result of a change in the DNA sequence before a child is born. Genetic conditions can be caused by:
- a mutation in one gene (monogenic disorder)
- mutations in multiple genes (multifactorial inheritance disorder)
- a combination of gene mutations and environmental factors
- damage to chromosomes
Facts about genetic conditions
- A genetic condition can occur when a child inherits an altered gene from their parents that increases the risk of developing a particular condition.
- Not all genetic conditions are hereditary, some gene changes occur randomly before birth.
- Genes are contained in a number of packages called chromosomes. You have 23 pairs of chromosomes, 46 in total.
- Changes in your chromosomes, can cause genetic conditions.
- Approximately 6 out of 10 people will be affected by a condition which has some genetic background.
- Genetic conditions can range from mild to very severe.
- Researchers have identified more than 4,000 diseases that are caused by mutations.
What are some recognised genetic conditions?
Genetic conditions are complex and varied, with different changes in DNA presenting many different physical and intellectual symptoms.
- Down syndrome – a genetic condition caused by the occurrence of an extra chromosome.
- Angelman syndrome – a rare neuro-genetic disorder causing physical and intellectual developmental delay.
- Cystic fybrosis – a genetic condition that affects the lungs and digestive system
- Ehlers-Danlos syndrome – a group of connective tissue disorders that can cause joint hypermobility, skin hyperextensibility (skin that can be stretched further than normal), and tissue fragility.
- Fragile X syndrome – a genetic condition which causes intellectual, behavioural and learning challenges.
How can CPL help?
A diagnosis of a genetic disorder can be made anytime during life, from before birth to old age. CPL's Allied Health team can support with a range of therapies including early intervention, physiotherapy, speech therapy and occupational therapy.
The NDIS Early Childhood Early Intervention (ECEI) approach supports children aged 0-6 years who have a developmental delay or disability and their families/carers. CPL's Support Coordinators can help you to navigate your first NDIS plan.
Community access is an important part of everyday life. As this looks different for everyone, we will meet with you and your family to discuss what you like to do and how we can support you.
Sometimes it helps to have an extra set of hands at home. CPL can support your needs, from getting ready for school, university or work, right through to mealtime assistance and medication.