One in 12 babies are born with a rare disease, and despite advances in genomic testing, 50 per cent of those affected are left without a diagnosis. But thanks to philanthropic support, there is hope. 

For children and young people with a rare disease, a diagnosis can provide treatment options and life-changing care. Fortunately, through the investment of donors, The Royal Children’s Hospital (RCH), alongside Victorian Clinical Genetic Services and the Murdoch Children’s Research Institute, have been able to develop an innovative program called Rare Diseases (RD) Now, supporting the countless children born with a rare disease each year.  

“There are more than 7,000 rare genetic diseases. While we always say that individually they are rare, if you combine them all, they’re a very common group,” Dr Michelle de Silva, Program Manager of RDNow, said. 

RDNow leverages brand new technology to offer precise diagnoses and optimal care, as well as access to the latest research and therapies for those with rare diseases. It is available to RCH patients who have undergone genomic testing but still don’t have a diagnosis. 

“We see undiagnosed patients and design a bespoke pathway of testing for them that includes some really exciting technology that’s not available through the clinical route,” Michelle explained.  

To get access to this testing, patients across the RCH are able to contact their specialist clinician, geneticist or genetic counsellor to discuss potential involvement with the program. 

This process ensures those who stand to benefit most can access the specialised care and research, offering new possibilities for diagnosis and treatment for these young patients and their families – whether that means access to the latest clinical trials or treatments. 

“When a patient is accepted into RDNow, a genetics doctor and genetic counsellor will meet with the family and discuss what we can do to help find a diagnosis for them,” Michelle explained.  

“And for this set of patients, another 50 per cent will be diagnosed through RDNow,” she added. 

This program can ensure an accurate and earlier genetic diagnosis which can be life-changing for children and their families.  

“Lots of people live for years with uncertainty. Families can experience what we call a diagnostic odyssey where they don’t know what their child has,” Michelle explained. 

“Because of this, they might not be able to make plans for the future or find themselves limited in the reproductive choices they make because they don’t know what the diagnosis in their family is. It is reasons like this that show just how important this research is,” she continued.  

RDNow has already made a huge impact on the lives of patients across the RCH. Looking forward, Michelle hopes the technology will become available to everyone with a rare genetic condition.  

“There are a lot of people who don’t have access to the pathways that are offered by RDNow. It would be amazing if our program could be ongoing to continue helping people here and maybe even at other sites across Australia,” Michelle shared. 

Michelle is extremely grateful to the RCH Foundation, and their supporters for making this program possible.  

“We wouldn’t exist if it wasn’t for philanthropic support – and we wouldn’t have our amazing team if it we didn’t have the support of philanthropists. Thank you so much,” Michelle said.