At only three weeks old, Stella started presenting with signs of what would later be diagnosed as a life-threatening immune disorder.
At first, doctors thought Stella was suffering from extensive eczema or baby acne, but didn’t think there was anything more seriously wrong. She spent one week out of every month in the hospital, completely wrapped in bandages.
Her hands were frequently covered so she wouldn’t scratch her raw and painful skin. Her parents were left feeling helpless.
Thankfully, at age one and a half, Stella was finally diagnosed through whole genome sequencing at Garvan, as part of the CIRCA program.
Stella has DOCK8 immunodeficiency syndrome - a rare immune disorder, which cripples the function of immune cells. This leads to recurrent bacterial, viral and fungal infections of the skin and respiratory system.
Most, if not all, children with DOCK8 deficiency have had to undergo bone marrow or cell transplants to survive, with some even tragically losing their lives to this disease.
There’s still much ahead for Stella and her family. After a bone marrow transplant, and thanks to the early diagnosis because of Garvan and the CIRCA program, Stella’s prognosis is looking good.
We need your support to help the thousands of other Australians living with undiagnosed immune diseases. As an area of research still in its infancy, none of this work is possible without the generosity of visionary people like you.