A recently published article in Perth Now has brought light to the individual journeys of people living with a rare disease through the healthcare system. It follows the story of Alex and his family through his 8 year diagnostic odyssey, trying to find answers for his symptoms.

“Initially he had anaemia, which is unusual for a breastfed baby, and he was very pale and difficult to settle,” His mother, Ms Murray, told the Perth Now reporter. “Then as a toddler he refused to eat more than a teaspoon of food a day. His joints felt loose to the point where he would repeatedly click his fingers back into place, and it took him a long time to crawl, or even walk. And we didn’t realise he had hearing loss until he was four.”

His many years of specialist appointments culminated in 2018 when he was referred to the PCH Undiagnosed Disease Program led by Dr Gareth Baynam. “Dr Gareth Baynam, the head of the program, called me late at night and said they had a diagnosis,” Ms Murray said. “It wasn’t great, but it was good we finally knew.” Alex was diagnosed with Myhre syndrome, a rare connective tissue disorder that causes hearing loss, limited joint mobility and progressive fibrosis of the skin and internal organs.

The WA Rare Disease Care Centre at Perth Children’s Hospital (PCH) provides a centralised care location for families like Alex’s. Ms Murray expressed the hope that the facility provided. “Having this centre would be amazing because it could set Alex up for life.”

Read the full story here.

This article contains extracts from the Perth Now story ‘WA Rare Disease Care Centre: Alex’s story of perseverance’.

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