The Connective Tissue Dysplasia Clinic at The Children's Hospital at Westmead is changing the lives of people suffering from painful disorders affecting connective tissues such as bone, ligaments, tendons and skin.
The clinic has had a fairly low profile, despite it exceeding international expectations and boundaries through its research and care when dealing with the genetic disorders.
The most common of the connective tissue disorders are osteogenesis imperfecta (brittle-bone disease), Ehlers-Danlos syndrome (excessive joint movement), arthrogryposis (limited joint movement), mucopolysaccharidoses (looseness of skin or ligaments), osteochondrodysplasias (short stature) and Marfans syndrome (excessively tall stature).
The clinic aims to to correctly diagnose patients and develop a multidisciplinary approach to a patient's care to give them better quality and length of life.
The clinic's founding director, Professor David Sillence, said community awareness was important as "early diagnosis is key to relieving pain, unnecessary surgery, ineffective treatments and often heartache''.
A survey last year found many people with the disorders were often misdiagnosed and were given unnecessary treatments, he said.
"Thirty years ago our work with some of the more severe disorders was to be available to relieve the suffering of those children as they died from respiratory failure.
"Today, we don't expect any of these children will die. We've relieved their pain enormously and we've made their quality of life just so much better.''
There will be a fund-raising ball at Rosehill Gardens on Saturday, September 6.
Details: youtube.com/user/ConnectedFriend or connectedforkids.org.au.