When Edmond came to hospital, there was no test that could provide a complete diagnosis for his complex condition.

It would take 10 years before genomic testing would finally diagnose Edmond with an extremely rare neuropathy and support in providing a treatment with life-changing results.

Edmond was three-years old when he came to Dr Sachin Gupta, Paediatric Neurologist at The Children’s Hospital at Westmead. He presented with several concerns, most significantly... read more.