Patients with rare disease get free access to life-saving wonder drug


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Dr Mark Thomas, a nephrologist at Royal Perth Hospital and director of a statewide Fabry disease service, said the condition usually manifested in childhood, starting with “terrible burning pain” in the hands and feet.


Other symptoms included severe pain, skins rashes, headaches, fatigue, fever, vomiting and diarrhoea and an inability to sweat.


The fatty build-up in major organs could cause stroke, kidney failure and heart disease.


“The most severe cases die before the age of 50,” Dr Thomas said.


When Mrs Chant was diagnosed, the unexplained pains and illnesses she’d experienced since childhood suddenly clicked into place: the sharp pains in her abdomen, the kidney infections, heat intolerance and the appendectomy she probably didn’t need.


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