I saw what was happening emotionally within the family - it was one of those moments when you realise you have a chance to do something.
That was 1972 and I've been working in the area of genetic disorders ever since. Children with Lysosomal Storage Disorders (LSD), develop normally until one to three years of age. Then they generally regress in both development of body and mind. Diseases such as Hurler Syndrome, Hunter Syndrome and Sanfilippo Syndrome describe the clinical presentation of these rare conditions.
After some time in Sweden researching diagnostics, I returned to Australia in 1976 to set up a national service for the diagnosis of LSD in Adelaide under Director Dr Tony Pollard, in the Department of Chemical Pathology at the then Adelaide Children's Hospital.
After years of research, we started clinical trials in 2001 for LSD patients. A series of drug treatments were approved by the Federal Drug Authority in the US in 2005 and 2006 for two different LSD types, and these are now used internationally to treat thousands of patients.
In our research we found a number of genes that code the missing products that makes children unwell. We then used the normal genes to manufacture the missing compounds. We purify each protein and then inject it into patients throughout their life. The treatment means they can survive normally.
If we identify the disorder early enough, we can begin therapy and the child can have a reasonable life. There is great satisfaction for me but enormous benefit for the family.
One father said, after we began to treat his son, 'Before we could get him into therapeutic trials we were looking for carers for our son, but now we are looking for careers for our son'.
The team I work with has made all of this possible. It is the science that makes a difference.
We are now researching disorders that affect millions - dementia, Alzheimer's and Parkinson's disease - conditions that we can look forward to doing something about."