As you might expect, we work very closely with a small number of charitable organisations that have been set up to support people who have a particular condition and to provide information about the condition to their families, friends and caregivers.
Here we focus on three charities we support.
The peak body in Australia for people with Cystic Fibrosis is Cystic Fibrosis Australia.
Cystic fibrosis affects the lungs and gastrointestinal tract as well as sweat glands and the reproductive system and is characterised by the production of thick mucus that blocks airways and the lungs. As a result, children with the condition are at increased risk of lung infection and malnutrition and other issues that may present in adulthood.
People with the condition need ongoing medical treatment and physiotherapy. It is an inherited condition that can be inherited from either parent, although the specific gene only cases the condition in a small number of cases. Around 4% of people - just over 1 million people in Australia - carry the gene with no symptoms at all, and the condition can skip generations. Around one in every 2,500 babies born in Australia have the condition.
Cystic Fibrosis Australia aims to improve health outcomes for sufferers by encouraging research into the condition and thus help improve clinical practice. Its current mission is to extend life expectancy of sufferers from 37 to 50 by 2025.
The peak body for Down syndrome in Australia is Down Syndrome Australia.
Down syndrome is an inherited (ie genetic) condition - people with Down syndrome have an extra chromosome - 47 instead of the usual 46. In Australia it is believed there are over 13,000 people with the condition, with around one in 1,100 babies born with the condition in Australia.
People with Down syndrome experience some developmental delay and intellectual disability, but the level of this disability can vary widely.
The organisation was only set up relatively recently (2011) and aims to give a voice to all people in Australia with the condition and provide information, education and support to teaching and medical professionals. The peak body is supported by state-based associations and also works closely with Downs Syndrome International and the Australian Federation of Disability Organisations.
Jeans for Genes
Established in 1994 by the Children's Medical Research Institute, 'Jeans for Genes' was set up to help fund research into medical conditions affecting children such as the over 6,000 genetic diseases (one of which is Down syndrome), cancer and epilepsy.
Many children are affected by inherited conditions and birth defects - current statistics indicate 5% of all children are born with a genetic disease. Research projects funded by Jeans for Genes have resulted in new types of drugs to help children with epilepsy, new approaches to cancer diagnosis and treatment planning and the discovery of the single genetic defect that causes cleft lip and palate (among many other things).
At the clinic we are delighted to support these organisations in their work towards helping children with these conditions live a healthier, longer and happier life.