LIVING with a rare disease can be an isolating experience.
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With two children suffering from rare diseases, Bathurst woman Maria Kamper knows all too well how difficult it can be.
So Maria – along with others across the world – will be hosting a Rare Disease Day event tomorrow in a bid to raise awareness among the public and policy-makers about the impact of the diseases on people’s lives.
“Individuals and their families affected by a rare disease often feel isolated and lack guidance as to how to best treat or manage the condition,” Maria said.
“There are more than 8000 known rare diseases affecting more than two million Australians, of which up to 400,000 are children.
“Most of these diseases are genetic, chronic and debilitating.
“This year’s focus is on improving care for people living with a rare disease.
“People who are affected by rare diseases should be entitled to have the same treatment, access and quality of care as any other patient.”
Maria has two children affected by a rare disease and is passionate about raising awareness in the community.
As well as working for Skillset, she volunteers as president of the VCFS 22q11 Foundation (www.vcfs22q.org.au) and is a member of Rare Voices Australia – Australia’s national organisation advocating for those who live with a rare disease.
Maria’s daughter Charli, 14, has VCFS/22q11.2DS, a genetic condition caused by a deletion on the 22nd chromosome.
The deletion has more than 180 possible symptoms including, but not limited to, congenital heart defects, renal problems, cleft palates, learning disabilities, hearing impairments and mental illness.
Her son Robbie, 13, has Coats’ Disease, a very rare condition found in children and adults where there is abnormal development in the blood vessels behind the retina.
Maria said Rare Disease Day will be celebrated across the globe tomorrow.
Maria, who is Skillset’s centre and corporate services co-ordinator, will host a free event to mark the day at the Flannery Centre starting at 6pm and continuing until 8pm.
Maria thanked everyone who helped make the event possible including Skillset’s Flannery Centre, The Wholefood Kitchen, Vale Creek and Renzaglia Wines.
For more information contact Maria at events@skillset.com.au or telephone 6330 1400.