Being diagnosed with two rare life-threatening conditions at once was like being in an episode of the American TV medical drama House for Susanna Wills-Johnson, Marketing Manager at The University of Western Australia.
She survived the ordeal last year but a delay in treatment led to six weeks in hospital, including five days in an Intensive Care Unit. A year later today, Thursday 28 February marks International Rare Disease Day.
Researchers at Susanna's workplace are changing the lives of people diagnosed with rare diseases, which can be masked by relatively common symptoms and disorders and lead to misdiagnosis and delayed treatment.
Muscle diseases that affect thousands of infants worldwide are being investigated by UWA Winthrop Research Professor Nigel Laing, who heads the Neuromuscular Diseases Laboratory at the UWA-affiliated WA Institute for Medical Research.
He demonstrated mutations in the actin gene can cause muscle hypercontraction. His finding changed the viewpoint for clinicians who previously would not have considered this type of genetic defect when diagnosing newborn babies with muscle hyperactivity.
Muscle-wasting disease - also known as distal myopathy - can be passed on to future generations and is the subject of research by Dr Rachael Duff, from UWA's Centre for Medical Research. She was the world's first scientist to identify a mutation in the gene encoding the filamin C protein in a patient with distal myopathy.
Dr Duff's work has increased understanding of normal muscle function and provided new avenues to develop genetic counselling and treatment options.
Duchenne Muscular Dystrophy (DMD) is the most common form of muscle-wasting disorder that affects boys. It causes severe, progressive muscle loss and premature death. Professors Sue Fletcher and Steve Wilton, from UWA's Centre for Neuromuscular and Neurological Disorders and the Australian Neuromuscular Research Institute, have been working on restoring the production and function of a muscle protein called dystrophin, which is missing in patients with DMD.
Around the world there are about 7000 known rare diseases affecting up to 10 per cent of any population. Fifty per cent of rare diseases affect children. In Australia more than 1.2 million people have been diagnosed with a rare condition.
Winthrop Professor Nigel Laing (WAIMR) (+61 8) 9346 4611
Dr Rachael Duff (WAIMR) (+61 8) 9346 2423
Professor Sue Fletcher (ANRI) (+61 8) 9346 3583
Professor Steve Wilton (CNND) (+61 8) 9346 3967
Susanna Wills-Johnson (UWA Public Affairs) (+61 8) 6488 5525
Michael Sinclair-Jones (UWA Public Affairs) (+61 8) 6488 3229 / (+61 4) 00 700 783