10-year mystery solved: Edmond鈥檚 rare diagnosis odyssey
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鈥檚 Hospital at Westmead. He presented with several concerns, most significantly...
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