Gene2Care: Improving the patient journey for children with rare genetic diseases

Don’t be fooled by the word ‘rare’ in Rare Disease. Collectively, rare diseases are very common, with rare genetic disorders affecting 180,000 children in NSW. In developed countries, rare diseases account for 6 out of 10 childhood deaths.

While there are still many children living with an undiagnosed rare disease, the good news is that recent advances in genomic testing have resulted in an increase in genetic diagnoses. Dr Emma Palmer, a geneticist at Sydney Children’s Hospital, Randwick, who specialises in rare diseases, says a diagnosis can be life changing for families of kids with a rare disorder.

“Many families experience years of searching for answers, not knowing if this disease will happen again in their family, or what the future looks like for their child. A diagnosis brings understanding, both for families, and for clinicians, along with the ability to ensure the right specialist supports for children as they develop.” - Dr Emma Palmer, Clinical Geneticist at Sydney Children’s Hospital, Randwick. 

On behalf of our young patients and their families, the Gene2Care team would like to thank you for your generosity. Donations enable clinicians and researchers to dedicate themselves to finding the causes and best management options for rare childhood-onset genetic conditions. 

Research is critical in helping connect children with rare genetic conditions to the better care and support they deserve.