Genomic testing discovered the ultra-rare reasons for Charlie and Rosie’s mystery illnesses. 

What happened to us was a bit like lightning striking multiple times. 

Charlie, our eldest, was born with a congenital heart condition. He had ongoing breathing difficulties, which his doctors thought was the result of the heart surgery he had just after birth. A simple childhood illness could see him back in hospital on oxygen for weeks at a time. 

Meanwhile, Rosie was a very healthy baby until she become unwell at 10 months old. Over two weeks she lost weight, lacked energy and was pale – symptoms which took us to the emergency department just in time to save her life – she was in acute heart failure. Her doctors diagnosed dilated cardiomyopathy, but the gene panel tests they did at the time couldn’t explain why. A whole exome test found Rosie has a rare mitochondrial mutation that Sinead (her mum) shares, which can affect her heart and other organs. 

We moved from London to Melbourne last year, and our kids have had great care at The Royal Children's Hospital. Rosie has continued to improve with only a few protective medications. Charlie on the other hand, was struggling to put weight on and his growth rate was dropping off. He then developed persistent chilblains over the winter and random and severe joint pains. His constellation of symptoms was worrying and unexplained, until we were referred to the Monash Health genetics team. 

They performed a whole exome test which identified an incredibly rare autoimmune condition caused by a mutation on the STING1 gene. The difference that test made is unfathomable. Not only was Charlie spared biopsies and other invasive tests, but his doctors know that the standard immunosuppressive treatments don’t work for his condition – so he receives a targeted medication that has helped significantly improve his quality of life and life-expectancy.  

Charlie’s an amazing, resilient kid – he’s exploded with confidence recently and wants to play football even when he’s in pain. Rosie is feisty and loud and imaginative. Both of them will need lifelong medication, ongoing monitoring and care, but the doctors know what to look for. Life is good now – we don’t quite know what the future holds but we’re trying to live in the present.  

Sinead and Jon 


We could talk genomics all day, but we’ll send you only what’s useful and interesting.

Melbourne Genomics acknowledges the Wurundjeri people of the Kulin Nation, on whose lands we work, and all First Nations peoples across Victoria. We pay respect to Elders past and present. We also acknowledge the First Nations health professionals, researchers and leaders who are shaping the future of genomic medicine.

© 2014–2024 Melbourne Genomics Health Alliance